#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
SSU72	29101	broad.mit.edu	37	1	1500240	1500240	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:1500240C>T	ENST00000291386.3	-	2	448	c.137G>A	c.(136-138)gGa>gAa	p.G46E	SSU72_ENST00000359060.4_Missense_Mutation_p.G46E	NM_014188.2	NP_054907.1	Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)	46					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|mRNA polyadenylation (GO:0006378)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)	p.G46E(2)		large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GGGAGCTGGTCCTGGAAGCTT	0.458																																							uc001agd.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(136-138)GGA>GAA		Ssu72 RNA polymerase II CTD phosphatase homolog							138.0	134.0	135.0					1																	1500240		2203	4300	6503	SO:0001583	missense	29101				mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity	g.chr1:1500240C>T	AJ276409	CCDS32.1	1p36	2010-03-24	2006-04-04		ENSG00000160075	ENSG00000160075			25016	protein-coding gene	gene with protein product			"""Ssu72 RNA polymerase II CTD phosphatase homolog (yeast)"""			15125841, 15659578	Standard	NM_014188		Approved	HSPC182	uc001agd.3	Q9NP77	OTTHUMG00000000576	ENST00000291386.3:c.137G>A	1.37:g.1500240C>T	ENSP00000291386:p.Gly46Glu					SSU72_uc009vkg.1_Missense_Mutation_p.G46E|SSU72_uc001age.1_Missense_Mutation_p.G46E	p.G46E	NM_014188	NP_054907	Q9NP77	SSU72_HUMAN		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	2	462	-	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	46					Q9BZS6|Q9H933	Missense_Mutation	SNP	ENST00000291386.3	37	c.137G>A	CCDS32.1	.	.	.	.	.	.	.	.	.	.	C	33	5.289066	0.95517	.	.	ENSG00000160075	ENST00000291386;ENST00000378725;ENST00000359060	T;T	0.71579	-0.58;-0.58	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.89301	0.6676	H	0.95437	3.67	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	0.92103	0.5690	10	0.87932	D	0	-6.5483	18.1993	0.89833	0.0:1.0:0.0:0.0	.	46;46;46	B4DMK6;Q9NP77-2;Q9NP77	.;.;SSU72_HUMAN	E	46	ENSP00000291386:G46E;ENSP00000351955:G46E	ENSP00000291386:G46E	G	-	2	0	SSU72	1490103	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.532000	0.81985	2.641000	0.89580	0.563000	0.77884	GGA		0.458	SSU72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001366.1	NM_014188		26	94	0	0	0	0.003954	0	26	94				
DNAJC11	55735	broad.mit.edu	37	1	6706000	6706000	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:6706000C>T	ENST00000377577.5	-	8	866	c.743G>A	c.(742-744)cGt>cAt	p.R248H	DNAJC11_ENST00000294401.7_Missense_Mutation_p.R248H|DNAJC11_ENST00000465508.1_5'Flank|DNAJC11_ENST00000377573.5_Missense_Mutation_p.R158H|DNAJC11_ENST00000349363.6_Missense_Mutation_p.R210H|DNAJC11_ENST00000542246.1_Missense_Mutation_p.R210H	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	248						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)		p.R248H(2)|p.R278H(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCGGATTCCACGGGATGAAAA	0.537																																							uc001aof.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|skin(1)	2						c.(742-744)CGT>CAT		DnaJ (Hsp40) homolog, subfamily C, member 11							155.0	140.0	145.0					1																	6706000		2203	4300	6503	SO:0001583	missense	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6706000C>T	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.743G>A	1.37:g.6706000C>T	ENSP00000366800:p.Arg248His					DNAJC11_uc010nzt.1_Missense_Mutation_p.R210H|DNAJC11_uc001aog.2_Missense_Mutation_p.R248H|DNAJC11_uc010nzu.1_Missense_Mutation_p.R158H	p.R248H	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	8	849	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	248					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	ENST00000377577.5	37	c.743G>A	CCDS87.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670655	0.88348	.	.	ENSG00000007923	ENST00000377577;ENST00000451196;ENST00000349363;ENST00000294401;ENST00000542246;ENST00000377573;ENST00000426784	T;T;T;T;T;T;T	0.32988	2.45;1.84;1.43;2.45;2.19;1.84;2.36	5.49	5.49	0.81192	.	0.052639	0.85682	D	0.000000	T	0.50034	0.1592	L	0.56769	1.78	0.80722	D	1	D;B;B;B	0.76494	0.999;0.122;0.116;0.249	D;B;B;B	0.64506	0.926;0.006;0.042;0.014	T	0.27468	-1.0073	10	0.23891	T	0.37	-9.4809	18.3778	0.90441	0.0:1.0:0.0:0.0	.	158;224;248;248	B4DGD5;Q5TH61;Q9NVH1-3;Q9NVH1	.;.;.;DJC11_HUMAN	H	248;224;210;248;210;158;278	ENSP00000366800:R248H;ENSP00000415871:R224H;ENSP00000326304:R210H;ENSP00000294401:R248H;ENSP00000444020:R210H;ENSP00000366796:R158H;ENSP00000410194:R278H	ENSP00000294401:R248H	R	-	2	0	DNAJC11	6628587	1.000000	0.71417	0.979000	0.43373	0.999000	0.98932	5.540000	0.67205	2.578000	0.87016	0.655000	0.94253	CGT		0.537	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		66	203	0	0	0	0.00361	0	66	203				
CAMTA1	23261	broad.mit.edu	37	1	7805036	7805036	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:7805036A>G	ENST00000303635.7	+	17	4531	c.4324A>G	c.(4324-4326)Agt>Ggt	p.S1442G	CAMTA1_ENST00000439411.2_Missense_Mutation_p.S1442G|CAMTA1_ENST00000476864.1_Missense_Mutation_p.S6G	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1442					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S1442G(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTGGCTGGCCAGTTATCTAGC	0.517			T	WWTR1	epitheliod hemangioendothelioma																																		uc001aoi.2		NA		Dom	yes		1	1p36.31-p36.23	611501		calmodulin binding transcription activator 1			M					2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(4324-4326)AGT>GGT		calmodulin-binding transcription activator 1							110.0	96.0	101.0					1																	7805036		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7805036A>G	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.4324A>G	1.37:g.7805036A>G	ENSP00000306522:p.Ser1442Gly					CAMTA1_uc010nzv.1_Missense_Mutation_p.S529G|CAMTA1_uc001aok.3_Missense_Mutation_p.S485G|CAMTA1_uc001aoj.2_Missense_Mutation_p.S398G|CAMTA1_uc009vmf.2_Missense_Mutation_p.S46G	p.S1442G	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	17	4531	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	1442					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.4324A>G	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.740385	0.49045	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646;ENST00000476864	T;T;T	0.56275	1.85;1.8;0.47	5.44	3.12	0.35913	.	0.240460	0.48767	D	0.000171	T	0.48169	0.1485	M	0.68593	2.085	0.38639	D	0.951579	B;B;B;B	0.26902	0.0;0.163;0.0;0.0	B;B;B;B	0.23852	0.001;0.049;0.0;0.005	T	0.47724	-0.9095	10	0.56958	D	0.05	-1.5509	9.166	0.37052	0.848:0.0:0.152:0.0	.	1442;505;398;1442	Q9Y6Y1-2;B4DXR3;Q7Z7P1;Q9Y6Y1	.;.;.;CMTA1_HUMAN	G	1442;1442;505;398;6	ENSP00000306522:S1442G;ENSP00000402561:S1442G;ENSP00000452319:S6G	ENSP00000306522:S1442G	S	+	1	0	CAMTA1	7727623	1.000000	0.71417	0.999000	0.59377	0.914000	0.54420	3.664000	0.54525	0.374000	0.24650	0.533000	0.62120	AGT		0.517	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		24	103	0	0	0	0.004656	0	24	103				
PIK3CD	5293	broad.mit.edu	37	1	9714056	9714056	+	Intron	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:9714056G>T	ENST00000377346.4	+	1	58				C1orf200_ENST00000377320.3_Silent_p.L95L|PIK3CD_ENST00000536656.1_Intron	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta						adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.L95L(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	ttgaagccaggagttcaaggt	0.527																																							uc001aqc.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(283-285)CTC>CTA		RecName: Full=Putative uncharacterized protein C1orf200;							17.0	18.0	18.0					1																	9714056		1963	4096	6059	SO:0001627	intron_variant	644997							g.chr1:9714056G>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.-138+2196G>T	1.37:g.9714056G>T						PIK3CD_uc001aqa.2_Intron|PIK3CD_uc001aqb.3_Intron	p.L95L	NR_027045					UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.86e-08)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(185;0.000231)|KIRC - Kidney renal clear cell carcinoma(229;0.000879)|BRCA - Breast invasive adenocarcinoma(304;0.00178)|STAD - Stomach adenocarcinoma(132;0.00331)|READ - Rectum adenocarcinoma(331;0.0419)	2	435	-	all_lung(157;0.222)	Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)						A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	ENST00000377346.4	37	c.285C>A	CCDS104.1																																																																																				0.527	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		6	28	1	0	5.9392e-07	0.001168	6.705e-07	6	28				
CELA2B	51032	broad.mit.edu	37	1	15809791	15809791	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:15809791C>A	ENST00000375910.3	+	5	414	c.389C>A	c.(388-390)cCc>cAc	p.P130H	CELA2B_ENST00000494280.1_3'UTR	NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	130	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.P130H(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						CTGGCTAACCCCGTCTCCCTC	0.612																																							uc001awl.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(388-390)CCC>CAC		elastase 2B preproprotein							188.0	140.0	156.0					1																	15809791		2203	4298	6501	SO:0001583	missense	51032				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15809791C>A		CCDS30605.1	1p36.21	2009-07-09			ENSG00000215704	ENSG00000215704			29995	protein-coding gene	gene with protein product	"""pancreatic elastase IIB"""	609444				3646943, 16327289	Standard	NM_015849		Approved	RP11-265F14.2, ELA2B	uc001awl.3	P08218	OTTHUMG00000002259	ENST00000375910.3:c.389C>A	1.37:g.15809791C>A	ENSP00000365075:p.Pro130His						p.P130H	NM_015849	NP_056933	P08218	CEL2B_HUMAN			5	414	+			130			Peptidase S1.		Q14D16|Q6ISM5|Q96QV5	Missense_Mutation	SNP	ENST00000375910.3	37	c.389C>A	CCDS30605.1	.	.	.	.	.	.	.	.	.	.	C	3.514	-0.099153	0.07010	.	.	ENSG00000215704	ENST00000375910	D	0.94931	-3.56	3.88	1.92	0.25849	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.994891	0.08147	U	0.990714	D	0.94105	0.8110	M	0.86343	2.81	0.09310	N	1	B	0.15141	0.012	B	0.22753	0.041	D	0.84677	0.0715	10	0.38643	T	0.18	.	6.7593	0.23532	0.0:0.5597:0.3397:0.1006	.	130	P08218	CEL2B_HUMAN	H	130	ENSP00000365075:P130H	ENSP00000365075:P130H	P	+	2	0	CELA2B	15682378	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.432000	0.21461	0.374000	0.24650	0.393000	0.25936	CCC		0.612	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006448.1	NM_015849		29	94	1	0	2.81731e-10	0.002096	3.54074e-10	29	94				
DDI2	84301	broad.mit.edu	37	1	15983175	15983175	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:15983175G>T	ENST00000480945.1	+	9	1417		c.e9+1			NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)								aspartic-type endopeptidase activity (GO:0004190)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CCCAGACCAGGTATTTATAGA	0.468																																							uc001awx.1		NA																	0					0						c.e9+1		DNA-damage inducible protein 2							184.0	166.0	172.0					1																	15983175		2203	4300	6503	SO:0001630	splice_region_variant	84301				proteolysis		aspartic-type endopeptidase activity	g.chr1:15983175G>T		CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"""				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.1197+1G>T	1.37:g.15983175G>T						DDI2_uc009voj.1_Splice_Site		NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	9	1342	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)						A8KAE1|Q7RTZ0|Q9BRT1	Splice_Site	SNP	ENST00000480945.1	37	c.1246_splice	CCDS30607.1																																																																																				0.468	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006826.1	NM_032341	Intron	43	149	1	0	1.57019e-19	0.007835	2.53548e-19	43	149				
MYOM3	127294	broad.mit.edu	37	1	24385442	24385442	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:24385442G>A	ENST00000374434.3	-	36	4184	c.4022C>T	c.(4021-4023)cCg>cTg	p.P1341L	MYOM3_ENST00000330966.7_Missense_Mutation_p.P1344L|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Missense_Mutation_p.P234L	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1341	Ig-like C2-type 4.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)	p.P1341L(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGCCACATCCGGCAGACCTCT	0.537																																							uc001bin.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(4021-4023)CCG>CTG		myomesin family, member 3							54.0	59.0	57.0					1																	24385442		1953	4149	6102	SO:0001583	missense	127294							g.chr1:24385442G>A	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.4022C>T	1.37:g.24385442G>A	ENSP00000363557:p.Pro1341Leu					MYOM3_uc001bil.3_Missense_Mutation_p.P234L|MYOM3_uc001bim.3_Missense_Mutation_p.P998L	p.P1341L	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	36	4185	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	1341			Ig-like C2-type 4.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.4022C>T	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822949	0.90873	.	.	ENSG00000142661	ENST00000338909;ENST00000374434;ENST00000330966;ENST00000374442	T;T;T	0.39997	1.05;1.05;1.05	4.64	4.64	0.57946	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66867	0.2833	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69068	-0.5243	10	0.40728	T	0.16	.	17.8652	0.88794	0.0:0.0:1.0:0.0	.	1341;234	Q5VTT5;Q5VTT5-3	MYOM3_HUMAN;.	L	234;1341;1344;235	ENSP00000342689:P234L;ENSP00000363557:P1341L;ENSP00000332670:P1344L	ENSP00000332670:P1344L	P	-	2	0	MYOM3	24258029	1.000000	0.71417	0.994000	0.49952	0.871000	0.50021	9.743000	0.98849	2.272000	0.75746	0.561000	0.74099	CCG		0.537	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		4	14	0	0	0	0.000602	0	4	14				
AHDC1	27245	broad.mit.edu	37	1	27876408	27876408	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:27876408C>G	ENST00000247087.5	-	5	2815	c.2219G>C	c.(2218-2220)cGc>cCc	p.R740P	AHDC1_ENST00000374011.2_Missense_Mutation_p.R740P			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	740	Gly-rich.						DNA binding (GO:0003677)	p.R740P(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CCGTCTCTTGCGCTTTGGCTT	0.677																																							uc009vsy.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(2218-2220)CGC>CCC		AT hook, DNA binding motif, containing 1							46.0	42.0	43.0					1																	27876408		2203	4300	6503	SO:0001583	missense	27245						DNA binding	g.chr1:27876408C>G	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.2219G>C	1.37:g.27876408C>G	ENSP00000247087:p.Arg740Pro					AHDC1_uc009vsz.1_Missense_Mutation_p.R740P	p.R740P	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	3188	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	740			Gly-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.2219G>C	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537072	0.65085	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.64085	-0.08;-0.08	5.78	5.78	0.91487	.	0.413213	0.20384	N	0.093393	T	0.70159	0.3192	N	0.24115	0.695	0.44417	D	0.997332	D	0.76494	0.999	D	0.75484	0.986	T	0.72717	-0.4209	10	0.66056	D	0.02	-11.4315	18.7782	0.91920	0.0:1.0:0.0:0.0	.	740	Q5TGY3	AHDC1_HUMAN	P	740	ENSP00000247087:R740P;ENSP00000363123:R740P	ENSP00000247087:R740P	R	-	2	0	AHDC1	27748995	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	3.863000	0.56016	2.731000	0.93534	0.650000	0.86243	CGC		0.677	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			18	69	0	0	0	0.008871	0	18	69				
AZIN2	113451	broad.mit.edu	37	1	33562427	33562427	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:33562427C>T	ENST00000294517.6	+	9	1460	c.873C>T	c.(871-873)atC>atT	p.I291I	ADC_ENST00000358680.3_Silent_p.I133I|ADC_ENST00000398167.1_Silent_p.I291I|ADC_ENST00000373443.3_Silent_p.I291I|ADC_ENST00000373441.1_Silent_p.I291I|ADC_ENST00000373440.1_Silent_p.I133I|ADC_ENST00000484656.1_3'UTR	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		291					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)	p.I291I(2)		NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	CAGTCAGCATCATTGCCAAGA	0.592																																							uc001bwr.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(871-873)ATC>ATT		ODC antizyme inhibitor-2	L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)						138.0	117.0	124.0					1																	33562427		2203	4300	6503	SO:0001819	synonymous_variant	113451				polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	g.chr1:33562427C>T																												ENST00000294517.6:c.873C>T	1.37:g.33562427C>T						ADC_uc001bws.2_Silent_p.I291I|ADC_uc009vue.2_Silent_p.I291I|ADC_uc001bwt.1_Silent_p.I196I|ADC_uc001bwu.2_Silent_p.I196I|ADC_uc001bwv.2_Silent_p.I196I|ADC_uc001bww.2_Silent_p.I196I|ADC_uc001bwx.1_Silent_p.I268I|ADC_uc001bwz.1_Silent_p.I291I|ADC_uc009vuf.1_Silent_p.I133I|ADC_uc001bwy.1_Silent_p.I140I|ADC_uc009vug.2_Silent_p.I291I	p.I291I	NM_052998	NP_443724	Q96A70	ADC_HUMAN			9	1460	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	291					B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Silent	SNP	ENST00000294517.6	37	c.873C>T	CCDS375.1																																																																																				0.592	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1			36	135	0	0	0	0.004289	0	36	135				
AGO1	26523	broad.mit.edu	37	1	36381063	36381063	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:36381063C>T	ENST00000373204.4	+	15	2161	c.1948C>T	c.(1948-1950)Caa>Taa	p.Q650*	AGO1_ENST00000373206.1_Nonsense_Mutation_p.Q575*	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	650	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Q650*(2)									GCTCCTCATCCAATTCTACAA	0.572																																							uc001bzl.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1948-1950)CAA>TAA		eukaryotic translation initiation factor 2C, 1							161.0	124.0	136.0					1																	36381063		2203	4300	6503	SO:0001587	stop_gained	26523				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding	g.chr1:36381063C>T	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1948C>T	1.37:g.36381063C>T	ENSP00000362300:p.Gln650*					EIF2C1_uc001bzk.2_Nonsense_Mutation_p.Q575*|EIF2C1_uc009vuy.2_RNA	p.Q650*	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN			15	2161	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	650			Piwi.		Q5TA57|Q6P4S0	Nonsense_Mutation	SNP	ENST00000373204.4	37	c.1948C>T	CCDS398.1	.	.	.	.	.	.	.	.	.	.	C	37	6.365726	0.97507	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-21.1922	19.9093	0.97021	0.0:1.0:0.0:0.0	.	.	.	.	X	575;650	.	ENSP00000362300:Q650X	Q	+	1	0	EIF2C1	36153650	1.000000	0.71417	1.000000	0.80357	0.247000	0.25773	7.818000	0.86416	2.785000	0.95823	0.655000	0.94253	CAA		0.572	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			39	85	0	0	0	0.004878	0	39	85				
COL8A2	1296	broad.mit.edu	37	1	36563472	36563472	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:36563472C>A	ENST00000397799.1	-	4	2034	c.1810G>T	c.(1810-1812)Ggc>Tgc	p.G604C	COL8A2_ENST00000303143.4_Missense_Mutation_p.G604C|COL8A2_ENST00000481785.1_Missense_Mutation_p.G539C			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	604	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.G604C(2)		NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGTTGTAGCCGCTGTGGCCA	0.622																																							uc001bzv.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(1810-1812)GGC>TGC		collagen, type VIII, alpha 2 precursor							44.0	41.0	42.0					1																	36563472		2202	4299	6501	SO:0001583	missense	1296				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr1:36563472C>A	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"""Collagens"""	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.1810G>T	1.37:g.36563472C>A	ENSP00000380901:p.Gly604Cys					COL8A2_uc001bzw.1_Missense_Mutation_p.G539C	p.G604C	NM_005202	NP_005193	P25067	CO8A2_HUMAN			2	1817	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	604			C1q.|Nonhelical region (NC1).		Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	37	c.1810G>T	CCDS403.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207367	0.58343	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785;ENST00000373172	D;D;D	0.86432	-2.12;-2.12;-2.12	4.55	3.64	0.41730	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.115576	0.64402	D	0.000014	D	0.89385	0.6700	L	0.46614	1.455	0.42964	D	0.994413	D	0.76494	0.999	D	0.80764	0.994	D	0.88134	0.2840	10	0.45353	T	0.12	.	9.3403	0.38076	0.0:0.8353:0.0:0.1647	.	604	P25067	CO8A2_HUMAN	C	604;604;539;328	ENSP00000305913:G604C;ENSP00000380901:G604C;ENSP00000436433:G539C	ENSP00000305913:G604C	G	-	1	0	COL8A2	36336059	0.979000	0.34478	0.999000	0.59377	0.991000	0.79684	2.504000	0.45416	1.264000	0.44198	0.563000	0.77884	GGC		0.622	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		19	36	1	0	6.33239e-15	0.010504	9.34442e-15	19	36				
RLF	6018	broad.mit.edu	37	1	40705942	40705942	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:40705942C>T	ENST00000372771.4	+	8	5595	c.5568C>T	c.(5566-5568)tcC>tcT	p.S1856S		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1856					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|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.S1856S(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CAGTTCCTTCCTTGGAAAACC	0.423																																							uc001cfc.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(5566-5568)TCC>TCT		rearranged L-myc fusion							114.0	116.0	115.0					1																	40705942		2203	4300	6503	SO:0001819	synonymous_variant	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40705942C>T		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.5568C>T	1.37:g.40705942C>T						RLF_uc001cfd.3_Silent_p.S1547S	p.S1856S	NM_012421	NP_036553	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		8	5599	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1856					Q14CQ1|Q9NU60	Silent	SNP	ENST00000372771.4	37	c.5568C>T	CCDS448.1																																																																																				0.423	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		38	116	0	0	0	0.005524	0	38	116				
TIE1	7075	broad.mit.edu	37	1	43779579	43779579	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:43779579G>T	ENST00000372476.3	+	14	2428	c.2349G>T	c.(2347-2349)ctG>ctT	p.L783L	TIE1_ENST00000433781.2_Silent_p.L428L|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	783					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L783L(3)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTTTAACCCTGGTGTGCATCC	0.657																																							uc001ciu.2		NA																	3	Substitution - coding silent(3)		lung(2)|endometrium(1)	lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7						c.(2347-2349)CTG>CTT		tyrosine kinase with immunoglobulin-like and							77.0	71.0	73.0					1																	43779579		2203	4300	6503	SO:0001819	synonymous_variant	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43779579G>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2349G>T	1.37:g.43779579G>T						TIE1_uc010oke.1_Silent_p.L738L|TIE1_uc009vwq.2_Silent_p.L739L|TIE1_uc010okf.1_Silent_p.L428L|TIE1_uc010okg.1_Silent_p.L428L	p.L783L	NM_005424	NP_005415	P35590	TIE1_HUMAN			14	2428	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	783			Helical; (Potential).		B5A949|B5A950	Silent	SNP	ENST00000372476.3	37	c.2349G>T	CCDS482.1																																																																																				0.657	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		17	52	1	0	3.62473e-10	0.001882	4.51944e-10	17	52				
ATP6V0B	533	broad.mit.edu	37	1	44441771	44441771	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:44441771G>A	ENST00000472174.2	+	3	519	c.126G>A	c.(124-126)acG>acA	p.T42T	ATP6V0B_ENST00000236067.4_5'UTR|ATP6V0B_ENST00000472277.1_3'UTR|ATP6V0B_ENST00000471859.2_Silent_p.T89T|ATP6V0B_ENST00000498664.1_5'UTR|ATP6V0B_ENST00000532642.1_Silent_p.T42T	NM_004047.3	NP_004038.1	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	42					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuole (GO:0005773)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)	p.T42T(2)		breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GGTTCCTGACGGAGACTTCGC	0.562																																							uc001cld.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(124-126)ACG>ACA		ATPase, H+ transporting, lysosomal 21kDa, V0							150.0	130.0	137.0					1																	44441771		2203	4300	6503	SO:0001819	synonymous_variant	533				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity	g.chr1:44441771G>A	BC000423	CCDS505.1, CCDS41315.1, CCDS72772.1	1p32.3	2010-04-21	2006-01-20	2002-05-10	ENSG00000117410	ENSG00000117410		"""ATPases / V-type"""	861	protein-coding gene	gene with protein product		603717	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 21kD"", ""ATPase, H+ transporting, lysosomal 21kDa, V0 subunit c''"""	ATP6F		9653649	Standard	XM_005270944		Approved	VMA16, HATPL	uc001cld.3	Q99437	OTTHUMG00000008298	ENST00000472174.2:c.126G>A	1.37:g.44441771G>A						ATP6V0B_uc001clc.2_Silent_p.T42T|ATP6V0B_uc001cle.2_5'UTR|ATP6V0B_uc001clf.2_5'UTR	p.T42T	NM_004047	NP_004038	Q99437	VATO_HUMAN			3	237	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	42			Cytoplasmic (Potential).		D3DPY5|Q6IB32	Silent	SNP	ENST00000472174.2	37	c.126G>A	CCDS505.1																																																																																				0.562	ATP6V0B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022854.2	NM_004047		15	208	0	0	0	0.007413	0	15	208				
PIK3R3	8503	broad.mit.edu	37	1	46521524	46521524	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:46521524A>G	ENST00000262741.5	-	7	1573	c.884T>C	c.(883-885)aTg>aCg	p.M295T	PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000354242.4_Intron|PIK3R3_ENST00000423209.1_Intron|PIK3R3_ENST00000372006.1_Missense_Mutation_p.M295T|PIK3R3_ENST00000420542.1_Missense_Mutation_p.M295T|PIK3R3_ENST00000540385.1_Missense_Mutation_p.M341T	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	295					insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)	p.M295T(2)		endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	GATGCTATTCATTTTTTTATC	0.428																																							uc001cpb.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(883-885)ATG>ACG		phosphoinositide-3-kinase, regulatory subunit 3							200.0	186.0	190.0					1																	46521524		2203	4300	6503	SO:0001583	missense	8503				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding	g.chr1:46521524A>G	BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.884T>C	1.37:g.46521524A>G	ENSP00000262741:p.Met295Thr					PIK3R3_uc009vyb.2_Intron|PIK3R3_uc009vyc.2_Missense_Mutation_p.M312T|PIK3R3_uc001cpc.3_Missense_Mutation_p.M295T|PIK3R3_uc010olw.1_Missense_Mutation_p.M341T|PIK3R3_uc010olv.1_Missense_Mutation_p.M85T	p.M295T	NM_003629	NP_003620	Q92569	P55G_HUMAN			7	1640	-	Acute lymphoblastic leukemia(166;0.155)		295					B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Missense_Mutation	SNP	ENST00000262741.5	37	c.884T>C	CCDS529.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.939563	0.73557	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000540385	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.48	4.32	0.51571	.	0.035630	0.85682	D	0.000000	T	0.60405	0.2266	M	0.78456	2.415	0.80722	D	1	P;P;P	0.40731	0.728;0.55;0.725	P;D;P	0.64776	0.904;0.929;0.899	T	0.61778	-0.6993	10	0.66056	D	0.02	.	11.8878	0.52613	0.8692:0.0:0.0:0.1308	.	341;328;295	F6TDL0;Q7Z3W2;Q92569	.;.;P55G_HUMAN	T	295;295;295;341	ENSP00000361075:M295T;ENSP00000262741:M295T;ENSP00000412546:M295T;ENSP00000439913:M341T	ENSP00000262741:M295T	M	-	2	0	PIK3R3	46294111	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.339000	0.96797	0.981000	0.38548	0.528000	0.53228	ATG		0.428	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	NM_003629		27	125	0	0	0	0.003755	0	27	125				
CYP4A11	1579	broad.mit.edu	37	1	47395930	47395930	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:47395930G>T	ENST00000310638.4	-	12	1448	c.1417C>A	c.(1417-1419)Ctg>Atg	p.L473M	CYP4A11_ENST00000371904.4_Missense_Mutation_p.L474M|CYP4A11_ENST00000462347.1_Missense_Mutation_p.L375M	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	473					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)	p.L473M(2)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	AGCAGGGTCAGGGCCGTGGCC	0.542																																							uc001cqp.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(1417-1419)CTG>ATG		cytochrome P450, family 4, subfamily A,	NADH(DB00157)						133.0	119.0	124.0					1																	47395930		2203	4300	6503	SO:0001583	missense	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47395930G>T	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.1417C>A	1.37:g.47395930G>T	ENSP00000311095:p.Leu473Met						p.L473M	NM_000778	NP_000769	Q02928	CP4AB_HUMAN			12	1468	-			473					Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	c.1417C>A	CCDS543.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.173759	0.38413	.	.	ENSG00000187048	ENST00000310638;ENST00000371904	T;T	0.69926	-0.44;-0.44	4.41	3.49	0.39957	.	0.287190	0.34853	N	0.003638	T	0.69151	0.3079	L	0.38733	1.17	0.80722	D	1	D	0.60575	0.988	D	0.63033	0.91	T	0.69179	-0.5213	10	0.56958	D	0.05	.	9.5662	0.39400	0.2318:0.0:0.7682:0.0	.	473	Q02928	CP4AB_HUMAN	M	473;474	ENSP00000311095:L473M;ENSP00000360971:L474M	ENSP00000311095:L473M	L	-	1	2	CYP4A11	47168517	0.471000	0.25862	0.999000	0.59377	0.459000	0.32528	0.746000	0.26275	0.991000	0.38814	0.550000	0.68814	CTG		0.542	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		38	174	1	0	6.2361e-21	0.007835	1.03672e-20	38	174				
DAB1	1600	broad.mit.edu	37	1	57611039	57611039	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:57611039G>T	ENST00000371231.1	-	2	165	c.131C>A	c.(130-132)gCc>gAc	p.A44D	DAB1_ENST00000414851.2_Missense_Mutation_p.A44D|DAB1_ENST00000439789.2_Missense_Mutation_p.A44D|DAB1_ENST00000371236.2_Missense_Mutation_p.A44D|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Missense_Mutation_p.A44D|DAB1_ENST00000371234.4_Missense_Mutation_p.A44D|DAB1_ENST00000371230.1_Missense_Mutation_p.A44D			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	44	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)		p.A44D(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GATCAATTTGGCTTTGTACCG	0.418																																							uc001cys.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(130-132)GCC>GAC		disabled homolog 1							151.0	132.0	139.0					1																	57611039		2203	4300	6503	SO:0001583	missense	1600				cell differentiation|nervous system development			g.chr1:57611039G>T	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.131C>A	1.37:g.57611039G>T	ENSP00000360275:p.Ala44Asp					DAB1_uc001cyt.1_Missense_Mutation_p.A44D|DAB1_uc001cyq.1_Missense_Mutation_p.A44D|DAB1_uc001cyr.1_Missense_Mutation_p.A44D|DAB1_uc009vzw.1_Missense_Mutation_p.A44D|DAB1_uc009vzx.1_Missense_Mutation_p.A44D	p.A44D	NM_021080	NP_066566	O75553	DAB1_HUMAN			5	805	-			44			PID.		A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37	c.131C>A		.	.	.	.	.	.	.	.	.	.	G	35	5.490338	0.96339	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231;ENST00000371232;ENST00000332102;ENST00000371230	T;T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.73	5.73	0.89815	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.59514	0.2199	M	0.75615	2.305	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.995;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.991;1.0	T	0.61367	-0.7077	10	0.87932	D	0	-14.633	19.9087	0.97016	0.0:0.0:1.0:0.0	.	44;44;44;44;44	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	D	44	ENSP00000360280:A44D;ENSP00000360278:A44D;ENSP00000395296:A44D;ENSP00000387581:A44D;ENSP00000409328:A44D;ENSP00000360275:A44D;ENSP00000360276:A44D;ENSP00000329120:A44D;ENSP00000360274:A44D	ENSP00000329120:A44D	A	-	2	0	DAB1	57383627	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.864000	0.99589	2.687000	0.91594	0.655000	0.94253	GCC		0.418	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		30	96	1	0	1.88708e-17	0.008361	2.9622e-17	30	96				
DAB1	1600	broad.mit.edu	37	1	57611099	57611099	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:57611099T>A	ENST00000371231.1	-	2	105	c.71A>T	c.(70-72)cAg>cTg	p.Q24L	DAB1_ENST00000414851.2_Missense_Mutation_p.Q24L|DAB1_ENST00000439789.2_Missense_Mutation_p.Q24L|DAB1_ENST00000371236.2_Missense_Mutation_p.Q24L|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Missense_Mutation_p.Q24L|DAB1_ENST00000371234.4_Missense_Mutation_p.Q24L|DAB1_ENST00000371230.1_Missense_Mutation_p.Q24L			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	24					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)		p.Q24L(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						ACTGCGATCCTGACCTAAAAA	0.458																																							uc001cys.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(70-72)CAG>CTG		disabled homolog 1							92.0	85.0	87.0					1																	57611099		2203	4300	6503	SO:0001583	missense	1600				cell differentiation|nervous system development			g.chr1:57611099T>A	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.71A>T	1.37:g.57611099T>A	ENSP00000360275:p.Gln24Leu					DAB1_uc001cyt.1_Missense_Mutation_p.Q24L|DAB1_uc001cyq.1_Missense_Mutation_p.Q24L|DAB1_uc001cyr.1_Missense_Mutation_p.Q24L|DAB1_uc009vzw.1_Missense_Mutation_p.Q24L|DAB1_uc009vzx.1_Missense_Mutation_p.Q24L	p.Q24L	NM_021080	NP_066566	O75553	DAB1_HUMAN			5	745	-			24					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37	c.71A>T		.	.	.	.	.	.	.	.	.	.	T	19.16	3.773152	0.69992	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231;ENST00000371232;ENST00000332102;ENST00000371230	T;T;T;T;T;T;T;T;T	0.64618	0.85;0.85;0.9;0.93;1.9;0.85;0.92;-0.08;-0.11	5.73	5.73	0.89815	Pleckstrin homology-type (1);	0.050040	0.85682	D	0.000000	T	0.71367	0.3331	L	0.54323	1.7	0.38549	D	0.949408	P;P;P;P;P	0.46859	0.792;0.617;0.494;0.885;0.675	B;B;B;P;B	0.56788	0.208;0.067;0.111;0.806;0.327	T	0.71303	-0.4633	10	0.32370	T	0.25	-23.0492	16.0267	0.80550	0.0:0.0:0.0:1.0	.	24;24;24;24;24	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	L	24	ENSP00000360280:Q24L;ENSP00000360278:Q24L;ENSP00000395296:Q24L;ENSP00000387581:Q24L;ENSP00000409328:Q24L;ENSP00000360275:Q24L;ENSP00000360276:Q24L;ENSP00000329120:Q24L;ENSP00000360274:Q24L	ENSP00000329120:Q24L	Q	-	2	0	DAB1	57383687	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.813000	0.86123	2.170000	0.68504	0.533000	0.62120	CAG		0.458	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		20	71	0	0	0	0.010504	0	20	71				
DOCK7	85440	broad.mit.edu	37	1	63084481	63084481	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:63084481C>G	ENST00000340370.5	-	14	1595	c.1578G>C	c.(1576-1578)ccG>ccC	p.P526P	DOCK7_ENST00000251157.5_Silent_p.P526P|DOCK7_ENST00000404627.2_Silent_p.P526P	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	526					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.P526P(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GAAGCAGCTCCGGAGTTAGGC	0.388																																							uc001daq.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(1576-1578)CCG>CCC		dedicator of cytokinesis 7							129.0	138.0	135.0					1																	63084481		2203	4300	6503	SO:0001819	synonymous_variant	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63084481C>G		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.1578G>C	1.37:g.63084481C>G						DOCK7_uc001dan.2_Silent_p.P418P|DOCK7_uc001dao.2_Silent_p.P418P|DOCK7_uc001dap.2_Silent_p.P526P|DOCK7_uc009wah.1_Silent_p.P526P	p.P526P	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			14	1612	-			526					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Silent	SNP	ENST00000340370.5	37	c.1578G>C	CCDS30734.1																																																																																				0.388	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		69	242	0	0	0	0.00361	0	69	242				
LEPR	3953	broad.mit.edu	37	1	66083707	66083707	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:66083707G>A	ENST00000349533.6	+	16	2458	c.2273G>A	c.(2272-2274)tGg>tAg	p.W758*	LEPR_ENST00000344610.8_Nonsense_Mutation_p.W758*|LEPR_ENST00000371060.3_Nonsense_Mutation_p.W758*|LEPR_ENST00000371058.1_Nonsense_Mutation_p.W758*|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Nonsense_Mutation_p.W758*	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.W758*(6)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATTGTTTCCTGGATACTATCA	0.313																																							uc001dci.2		NA																	6	Substitution - Nonsense(6)		lung(6)	skin(1)	1						c.(2272-2274)TGG>TAG		leptin receptor isoform 1							97.0	94.0	95.0					1																	66083707		2203	4298	6501	SO:0001587	stop_gained	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66083707G>A	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2273G>A	1.37:g.66083707G>A	ENSP00000330393:p.Trp758*					LEPR_uc001dcg.2_Nonsense_Mutation_p.W758*|LEPR_uc001dch.2_Nonsense_Mutation_p.W758*|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Nonsense_Mutation_p.W758*|LEPR_uc001dck.2_Nonsense_Mutation_p.W758*	p.W758*	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	16	2475	+			758			Extracellular (Potential).|Fibronectin type-III 4.		Q6FHL5	Nonsense_Mutation	SNP	ENST00000349533.6	37	c.2273G>A	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	39	7.856311	0.98528	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.2448	19.8765	0.96875	0.0:0.0:1.0:0.0	.	.	.	.	X	758	.	ENSP00000340884:W758X	W	+	2	0	LEPR	65856295	1.000000	0.71417	0.999000	0.59377	0.640000	0.38277	7.030000	0.76484	2.695000	0.91970	0.650000	0.86243	TGG		0.313	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		11	90	0	0	0	0.000978	0	11	90				
SGIP1	84251	broad.mit.edu	37	1	67108500	67108500	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:67108500C>A	ENST00000371037.4	+	6	313	c.236C>A	c.(235-237)cCt>cAt	p.P79H	SGIP1_ENST00000371035.3_Missense_Mutation_p.P36H|SGIP1_ENST00000237247.6_Missense_Mutation_p.P83H|SGIP1_ENST00000371036.3_Missense_Mutation_p.P54H|SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000371039.1_Missense_Mutation_p.P55H	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	79					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)	p.P79H(2)|p.P55H(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TAGAACTCACCTGAGCTGGAT	0.328																																							uc001dcr.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)	3						c.(235-237)CCT>CAT		SH3-domain GRB2-like (endophilin) interacting							67.0	76.0	73.0					1																	67108500		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67108500C>A	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.236C>A	1.37:g.67108500C>A	ENSP00000360076:p.Pro79His						p.P79H	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			6	453	+			79					A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.236C>A	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.405694	0.83230	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000424320;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08	5.46	5.46	0.80206	.	0.055058	0.85682	D	0.000000	T	0.30166	0.0756	M	0.69358	2.11	0.44036	D	0.996764	D	0.59767	0.986	P	0.54499	0.754	T	0.04811	-1.0925	10	0.87932	D	0	-11.3666	17.4797	0.87669	0.0:1.0:0.0:0.0	.	79	Q9BQI5	SGIP1_HUMAN	H	83;55;79;36;82;82;54;79	ENSP00000237247:P83H;ENSP00000360078:P55H;ENSP00000410439:P79H;ENSP00000360074:P36H;ENSP00000360075:P54H;ENSP00000360076:P79H	ENSP00000237247:P83H	P	+	2	0	SGIP1	66881088	1.000000	0.71417	0.995000	0.50966	0.895000	0.52256	6.949000	0.75971	2.554000	0.86153	0.655000	0.94253	CCT		0.328	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		17	58	1	0	2.4624e-09	0.008871	2.9944e-09	17	58				
TCTEX1D1	200132	broad.mit.edu	37	1	67243129	67243129	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:67243129C>A	ENST00000282670.2	+	5	660	c.532C>A	c.(532-534)Ctt>Att	p.L178I		NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	178								p.L178I(2)|p.L178F(1)		large_intestine(2)|lung(10)|skin(1)	13						TGCAGTTTACCTTGAGTGATT	0.363																																							uc001dcv.2		NA																	3	Substitution - Missense(3)		lung(3)		0						c.(532-534)CTT>ATT		Tctex1 domain containing 1							96.0	100.0	99.0					1																	67243129		2203	4299	6502	SO:0001583	missense	200132							g.chr1:67243129C>A	AK098192	CCDS633.1	1p31.2	2008-02-05			ENSG00000152760	ENSG00000152760			26882	protein-coding gene	gene with protein product							Standard	NM_152665		Approved	FLJ40873	uc001dcv.3	Q8N7M0	OTTHUMG00000009162	ENST00000282670.2:c.532C>A	1.37:g.67243129C>A	ENSP00000282670:p.Leu178Ile					TCTEX1D1_uc009wau.2_RNA|TCTEX1D1_uc009wav.2_RNA	p.L178I	NM_152665	NP_689878	Q8N7M0	TC1D1_HUMAN			5	663	+			178					Q06YR9|Q5VYE1	Missense_Mutation	SNP	ENST00000282670.2	37	c.532C>A	CCDS633.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103843	0.37145	.	.	ENSG00000152760	ENST00000282670	T	0.30714	1.52	5.93	0.252	0.15545	.	0.507169	0.23160	N	0.051244	T	0.09905	0.0243	L	0.52011	1.625	0.18873	N	0.999987	B	0.14438	0.01	B	0.23150	0.044	T	0.30621	-0.9972	10	0.37606	T	0.19	-7.5846	6.5478	0.22416	0.0:0.2592:0.1213:0.6195	.	178	Q8N7M0	TC1D1_HUMAN	I	178	ENSP00000282670:L178I	ENSP00000282670:L178I	L	+	1	0	TCTEX1D1	67015717	1.000000	0.71417	0.999000	0.59377	0.790000	0.44656	4.305000	0.59110	0.125000	0.18397	-0.175000	0.13238	CTT		0.363	TCTEX1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025399.2	NM_152665		30	111	1	0	3.73148e-12	0.007291	5.12265e-12	30	111				
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74902192	74902192	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:74902192C>T	ENST00000370899.3	+	21	2200	c.2163C>T	c.(2161-2163)aaC>aaT	p.N721N	TNNI3K_ENST00000370891.2_Silent_p.N721N|TNNI3K_ENST00000326637.3_Silent_p.N620N|FPGT-TNNI3K_ENST00000557284.2_Silent_p.N734N	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.N620N(2)									ATGAAGACAACATGACAAAAC	0.358																																							uc001dgf.1		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(1858-1860)AAC>AAT		TNNI3 interacting kinase isoform b							91.0	90.0	90.0					1																	74902192		2203	4300	6503	SO:0001819	synonymous_variant	51086					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74902192C>T			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.2163C>T	1.37:g.74902192C>T						TNNI3K_uc001dgd.2_Silent_p.N721N|TNNI3K_uc001dge.1_Silent_p.N721N	p.N620N	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN			19	1911	+			620			Protein kinase.			Silent	SNP	ENST00000370899.3	37	c.1860C>T																																																																																					0.358	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			10	74	0	0	0	0.000978	0	10	74				
SLC44A5	204962	broad.mit.edu	37	1	75672394	75672394	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:75672394C>A	ENST00000370855.5	-	24	2171	c.2058G>T	c.(2056-2058)ctG>ctT	p.L686L	SLC44A5_ENST00000535611.1_Silent_p.L556L|SLC44A5_ENST00000370859.3_Intron	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	686					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.L686L(2)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CATTTCTTTCCAGATCTTCAC	0.413																																							uc001dgu.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(2)	4						c.(2056-2058)CTG>CTT		solute carrier family 44, member 5 isoform A							139.0	133.0	135.0					1																	75672394		2203	4300	6503	SO:0001819	synonymous_variant	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75672394C>A	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.2058G>T	1.37:g.75672394C>A						SLC44A5_uc001dgt.2_Intron|SLC44A5_uc001dgs.2_Intron|SLC44A5_uc001dgr.2_Intron|SLC44A5_uc010oqz.1_Intron|SLC44A5_uc010ora.1_Silent_p.L680L|SLC44A5_uc010orb.1_Silent_p.L556L	p.L686L	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN			24	2202	-			686			Cytoplasmic (Potential).		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Silent	SNP	ENST00000370855.5	37	c.2058G>T	CCDS667.1																																																																																				0.413	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		46	155	1	0	1.56793e-16	0.00361	2.38059e-16	46	155				
LPHN2	23266	broad.mit.edu	37	1	82447508	82447508	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:82447508G>T	ENST00000370728.1	+	21	3763	c.3118G>T	c.(3118-3120)Gct>Tct	p.A1040S	LPHN2_ENST00000370717.2_Missense_Mutation_p.A1055S|LPHN2_ENST00000370723.1_Missense_Mutation_p.A1042S|LPHN2_ENST00000370715.1_Missense_Mutation_p.A1027S|LPHN2_ENST00000370730.1_Missense_Mutation_p.A1040S|LPHN2_ENST00000370713.1_Missense_Mutation_p.A1027S|LPHN2_ENST00000335786.5_Missense_Mutation_p.A1040S|LPHN2_ENST00000271029.4_Missense_Mutation_p.A1055S|LPHN2_ENST00000359929.3_Missense_Mutation_p.A1027S|LPHN2_ENST00000370721.1_Missense_Mutation_p.A965S|LPHN2_ENST00000394879.1_Missense_Mutation_p.A1042S|LPHN2_ENST00000370727.1_Missense_Mutation_p.A1055S|LPHN2_ENST00000319517.6_Missense_Mutation_p.A1027S|LPHN2_ENST00000370725.1_Missense_Mutation_p.A1055S|LPHN2_ENST00000469377.2_Intron			O95490	LPHN2_HUMAN	latrophilin 2	1040					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.A1027S(1)|p.A1055S(1)|p.A1027T(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GGTGCTTGGCGCTTTCGCTCT	0.383																																							uc001dit.3		NA																	3	Substitution - Missense(3)		lung(2)|large_intestine(1)	ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(3079-3081)GCT>TCT		latrophilin 2 precursor							257.0	262.0	260.0					1																	82447508		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82447508G>T	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.3118G>T	1.37:g.82447508G>T	ENSP00000359763:p.Ala1040Ser					LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.A1027S|LPHN2_uc001div.2_Missense_Mutation_p.A1027S|LPHN2_uc009wcd.2_Missense_Mutation_p.A1027S|LPHN2_uc001diw.2_Missense_Mutation_p.A611S|LPHN2_uc009wce.1_Missense_Mutation_p.A128S	p.A1027S	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	18	3260	+			1040			Helical; Name=6; (Potential).		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.3079G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.68|14.68	2.606836|2.606836	0.46527|0.46527	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000402328	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.37752|.	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18|.	5.67|5.67	5.67|5.67	0.87782|0.87782	GPCR, family 2-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55689|0.55689	0.1936|0.1936	L|L	0.35288|0.35288	1.05|1.05	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.39116|.	0.537;0.521;0.47;0.66|.	P;B;B;B|.	0.47402|.	0.546;0.216;0.108;0.41|.	T|T	0.51442|0.51442	-0.8705|-0.8705	10|5	0.49607|.	T|.	0.09|.	.|.	19.7806|19.7806	0.96414|0.96414	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1040;1027;1027;1027|.	O95490;O95490-3;O95490-4;O95490-2|.	LPHN2_HUMAN;.;.;.|.	S|L	965;1040;1040;1055;1055;1042;1027;1027;1027;1027;1055;1042;1055;1040|45	ENSP00000359756:A965S;ENSP00000359763:A1040S;ENSP00000359765:A1040S;ENSP00000359762:A1055S;ENSP00000359760:A1055S;ENSP00000359758:A1042S;ENSP00000353006:A1027S;ENSP00000359750:A1027S;ENSP00000359748:A1027S;ENSP00000322270:A1027S;ENSP00000359752:A1055S;ENSP00000378344:A1042S;ENSP00000271029:A1055S;ENSP00000337306:A1040S|.	ENSP00000271029:A1055S|.	A|R	+|+	1|2	0|0	LPHN2|LPHN2	82220096|82220096	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.994000|0.994000	0.84299|0.84299	9.869000|9.869000	0.99810|0.99810	2.669000|2.669000	0.90835|0.90835	0.650000|0.650000	0.86243|0.86243	GCT|CGC		0.383	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		110	365	1	0	7.036e-43	0.00361	1.4072e-42	110	365				
C1orf52	148423	broad.mit.edu	37	1	85725280	85725280	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:85725280C>A	ENST00000471115.1	-	1	45	c.37G>T	c.(37-39)Gcg>Tcg	p.A13S	C1orf52_ENST00000294661.4_5'UTR|C1orf52_ENST00000344356.5_Missense_Mutation_p.A13S	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52	13							poly(A) RNA binding (GO:0044822)	p.A13S(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		CCGTATGCCGCAAAATAGCTC	0.652											OREG0013580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001dkv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(37-39)GCG>TCG		hypothetical protein LOC148423							18.0	16.0	17.0					1																	85725280		2203	4299	6502	SO:0001583	missense	148423							g.chr1:85725280C>A	BC029538	CCDS703.1	1p22.3	2008-02-05			ENSG00000162642	ENSG00000162642			24871	protein-coding gene	gene with protein product						11891061	Standard	NM_198077		Approved	gm117, FLJ44982	uc001dkv.3	Q8N6N3	OTTHUMG00000009966	ENST00000471115.1:c.37G>T	1.37:g.85725280C>A	ENSP00000419417:p.Ala13Ser		OREG0013580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1239	C1orf52_uc001dkw.2_RNA|C1orf52_uc001dkx.3_RNA|C1orf52_uc009wcn.2_Missense_Mutation_p.A13S	p.A13S	NM_198077	NP_932343	Q8N6N3	CA052_HUMAN		all cancers(265;0.0105)|Epithelial(280;0.0293)	1	76	-			13					B3KX89|Q8TDK5|Q8TDK6	Missense_Mutation	SNP	ENST00000471115.1	37	c.37G>T	CCDS703.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390797	0.62066	.	.	ENSG00000162642	ENST00000471115;ENST00000344356	.	.	.	5.64	5.64	0.86602	.	0.055194	0.64402	D	0.000001	T	0.45034	0.1322	L	0.38175	1.15	0.44562	D	0.997528	P;P	0.51351	0.944;0.827	P;B	0.44561	0.453;0.359	T	0.40776	-0.9545	9	0.42905	T	0.14	-2.7477	20.0668	0.97706	0.0:1.0:0.0:0.0	.	13;13	Q8N6N3-2;Q8N6N3	.;CA052_HUMAN	S	13	.	ENSP00000345092:A13S	A	-	1	0	C1orf52	85497868	1.000000	0.71417	0.719000	0.30619	0.077000	0.17291	4.967000	0.63722	2.814000	0.96858	0.637000	0.83480	GCG		0.652	C1orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027616.2	NM_198077		7	16	1	0	8.12818e-05	0.001984	8.70246e-05	7	16				
GBP1	2633	broad.mit.edu	37	1	89523826	89523826	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:89523826G>A	ENST00000370473.4	-	6	942	c.723C>T	c.(721-723)ccC>ccT	p.P241P	GBP1_ENST00000484970.1_5'Flank	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	241	GB1/RHD3-type G.|GTPase domain (Globular).				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.P241P(2)		endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TGCGGTGAACGGGCCGATCAA	0.438																																							uc001dmx.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(721-723)CCC>CCT		guanylate binding protein 1,							153.0	166.0	162.0					1																	89523826		2203	4300	6503	SO:0001819	synonymous_variant	2633				interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89523826G>A	BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.723C>T	1.37:g.89523826G>A							p.P241P	NM_002053	NP_002044	P32455	GBP1_HUMAN		all cancers(265;0.0156)|Epithelial(280;0.0291)	6	943	-		Lung NSC(277;0.123)	241					D3DT26|Q5T8M1	Silent	SNP	ENST00000370473.4	37	c.723C>T	CCDS718.1																																																																																				0.438	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	NM_002053		124	313	0	0	0	0.00361	0	124	313				
LRRC8D	55144	broad.mit.edu	37	1	90399760	90399760	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:90399760T>G	ENST00000337338.5	+	3	1540	c.1133T>G	c.(1132-1134)tTt>tGt	p.F378C	LRRC8D_ENST00000394593.3_Missense_Mutation_p.F378C	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	378					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.F378C(2)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GTTTATGGCTTTATCTGCCTC	0.368																																							uc001dnm.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1132-1134)TTT>TGT		leucine rich repeat containing 8 family, member							117.0	116.0	116.0					1																	90399760		2203	4300	6503	SO:0001583	missense	55144					integral to membrane	protein binding	g.chr1:90399760T>G	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.1133T>G	1.37:g.90399760T>G	ENSP00000338887:p.Phe378Cys					LRRC8D_uc001dnn.2_Missense_Mutation_p.F378C	p.F378C	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	3	1558	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	378			Helical; (Potential).		D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	ENST00000337338.5	37	c.1133T>G	CCDS726.1	.	.	.	.	.	.	.	.	.	.	T	10.87	1.473495	0.26423	.	.	ENSG00000171492	ENST00000337338;ENST00000394593	T;T	0.47528	0.84;0.84	5.86	5.86	0.93980	.	0.393773	0.26919	N	0.021824	T	0.17238	0.0414	N	0.14661	0.345	0.39697	D	0.971123	B	0.06786	0.001	B	0.10450	0.005	T	0.09271	-1.0682	9	.	.	.	.	16.251	0.82489	0.0:0.0:0.0:1.0	.	378	Q7L1W4	LRC8D_HUMAN	C	378	ENSP00000338887:F378C;ENSP00000378093:F378C	.	F	+	2	0	LRRC8D	90172348	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	5.141000	0.64814	2.232000	0.73038	0.482000	0.46254	TTT		0.368	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		19	164	0	0	0	0.006122	0	19	164				
ABCA4	24	broad.mit.edu	37	1	94496568	94496568	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:94496568G>T	ENST00000370225.3	-	28	4323	c.4237C>A	c.(4237-4239)Cag>Aag	p.Q1413K		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1413					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.Q1413K(2)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AAGGTGTACTGCTGCCCATAT	0.552																																							uc001dqh.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(4237-4239)CAG>AAG		ATP-binding cassette, sub-family A member 4							102.0	85.0	91.0					1																	94496568		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94496568G>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.4237C>A	1.37:g.94496568G>T	ENSP00000359245:p.Gln1413Lys						p.Q1413K	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	28	4341	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1413			Extracellular.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.4237C>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719153	0.89205	.	.	ENSG00000198691	ENST00000546054;ENST00000370225	D	0.94537	-3.45	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.96213	0.8765	M	0.84082	2.675	0.80722	D	1	D	0.61697	0.99	P	0.55785	0.784	D	0.96533	0.9394	10	0.72032	D	0.01	.	18.0029	0.89202	0.0:0.0:1.0:0.0	.	1413	P78363	ABCA4_HUMAN	K	205;1413	ENSP00000359245:Q1413K	ENSP00000359245:Q1413K	Q	-	1	0	ABCA4	94269156	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.622000	0.98378	2.494000	0.84150	0.655000	0.94253	CAG		0.552	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		10	49	1	0	0.000673444	0.008291	0.000713271	10	49				
PLPPR4	9890	broad.mit.edu	37	1	99772348	99772348	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:99772348A>T	ENST00000370185.3	+	7	2571	c.2074A>T	c.(2074-2076)Agc>Tgc	p.S692C	LPPR4_ENST00000457765.1_Missense_Mutation_p.S634C|LPPR4_ENST00000370184.1_Missense_Mutation_p.S534C	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		692					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.S692C(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CAACATTGATAGCAATGAGCA	0.507																																							uc001dse.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(2074-2076)AGC>TGC		plasticity related gene 1							77.0	67.0	70.0					1																	99772348		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99772348A>T																												ENST00000370185.3:c.2074A>T	1.37:g.99772348A>T	ENSP00000359204:p.Ser692Cys					LPPR4_uc010oue.1_Missense_Mutation_p.S634C	p.S692C	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	2180	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	692					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.2074A>T	CCDS757.1	.	.	.	.	.	.	.	.	.	.	A	5.926	0.354831	0.11239	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000370184	T;T;T	0.24350	2.43;2.44;1.86	6.02	3.72	0.42706	.	1.325690	0.04311	N	0.349053	T	0.05640	0.0148	N	0.08118	0	0.09310	N	1	B;P	0.36027	0.071;0.533	B;B	0.36885	0.084;0.235	T	0.39057	-0.9632	9	.	.	.	-2.4786	10.1941	0.43043	0.8667:0.0:0.1333:0.0	.	634;692	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	C	692;634;534	ENSP00000359204:S692C;ENSP00000394913:S634C;ENSP00000359203:S534C	.	S	+	1	0	RP4-788L13.1	99544936	0.207000	0.23482	0.000000	0.03702	0.045000	0.14185	4.328000	0.59253	0.534000	0.28695	0.533000	0.62120	AGC		0.507	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			13	51	0	0	0	0.00245	0	13	51				
S1PR1	1901	broad.mit.edu	37	1	101704717	101704717	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:101704717C>A	ENST00000305352.6	+	2	552	c.177C>A	c.(175-177)atC>atA	p.I59I	S1PR1_ENST00000475821.1_3'UTR|RP4-575N6.4_ENST00000432195.1_RNA	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	59					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.I59I(2)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GCTGCTTTATCATCCTGGAGA	0.458											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001dud.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(1)	3						c.(175-177)ATC>ATA		sphingosine-1-phosphate receptor 1							147.0	142.0	144.0					1																	101704717		2203	4300	6503	SO:0001819	synonymous_variant	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101704717C>A	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.177C>A	1.37:g.101704717C>A			OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1360	S1PR1_uc009weg.2_Silent_p.I59I	p.I59I	NM_001400	NP_001391	P21453	S1PR1_HUMAN			2	691	+			59			Helical; Name=1; (By similarity).		D3DT66|Q9BYY4|Q9NYN8	Silent	SNP	ENST00000305352.6	37	c.177C>A	CCDS777.1																																																																																				0.458	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		39	113	1	0	1.07637e-12	0.004878	1.50921e-12	39	113				
AMY1C	278	broad.mit.edu	37	1	104297213	104297213	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:104297213G>T	ENST00000370079.3	+	6	1035	c.971G>T	c.(970-972)gGa>gTa	p.G324V		NM_001008219.1	NP_001008220.1	P04745	AMY1_HUMAN	amylase, alpha 1C (salivary)	324					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.G324V(2)		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)		GGCGCTGGAGGAGCCTCTATA	0.413																																						Pancreas(131;743 2392 43382 44986)	uc001duy.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(970-972)GGA>GTA		salivary amylase alpha 1A precursor							169.0	174.0	173.0					1																	104297213		2171	4202	6373	SO:0001583	missense	276				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding|protein binding	g.chr1:104297213G>T		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.971G>T	1.37:g.104297213G>T	ENSP00000359096:p.Gly324Val					AMY1A_uc001duz.2_Missense_Mutation_p.G324V	p.G324V	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	1185	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	324					A6NJS5|A8K8H6|Q13763|Q5T083	Missense_Mutation	SNP	ENST00000370079.3	37	c.971G>T	CCDS30784.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362161	0.41902	.	.	ENSG00000187733	ENST00000370079	.	.	.	2.23	2.23	0.28157	.	0.000000	0.85682	D	0.000000	T	0.80380	0.4612	M	0.94021	3.485	0.80722	D	1	.	.	.	.	.	.	D	0.85636	0.1273	7	0.87932	D	0	.	12.8048	0.57607	0.0:0.0:1.0:0.0	.	.	.	.	V	324	.	ENSP00000359096:G324V	G	+	2	0	AMY1C	104098736	1.000000	0.71417	0.962000	0.40283	0.303000	0.27691	9.255000	0.95524	1.239000	0.43787	0.184000	0.17185	GGA		0.413	AMY1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030375.1	NM_001008219		36	249	1	0	4.60868e-44	0.00361	9.24082e-44	36	249				
STRIP1	85369	broad.mit.edu	37	1	110584388	110584388	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:110584388A>T	ENST00000369795.3	+	8	812	c.790A>T	c.(790-792)Atc>Ttc	p.I264F	STRIP1_ENST00000369796.1_Missense_Mutation_p.I169F	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	264					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.I264F(2)									GCCATTTGCCATCATGCTGTT	0.532																																							uc001dza.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(1)	4						c.(790-792)ATC>TTC		hypothetical protein LOC85369							201.0	180.0	187.0					1																	110584388		2203	4300	6503	SO:0001583	missense	85369					nucleus	protein binding	g.chr1:110584388A>T	AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.790A>T	1.37:g.110584388A>T	ENSP00000358810:p.Ile264Phe					FAM40A_uc001dyz.1_Missense_Mutation_p.I169F|FAM40A_uc009wfp.1_Missense_Mutation_p.I88F	p.I264F	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)	8	809	+		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	264					Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Missense_Mutation	SNP	ENST00000369795.3	37	c.790A>T	CCDS30798.1	.	.	.	.	.	.	.	.	.	.	A	17.67	3.448196	0.63178	.	.	ENSG00000143093	ENST00000369796;ENST00000369795	T;T	0.49720	0.77;0.78	5.81	5.81	0.92471	.	0.053328	0.85682	D	0.000000	T	0.24509	0.0594	L	0.43923	1.385	0.80722	D	1	B;B	0.31256	0.21;0.316	B;B	0.34242	0.109;0.178	T	0.27606	-1.0069	10	0.48119	T	0.1	-26.0161	6.2179	0.20665	0.8063:0.0:0.1937:0.0	.	169;264	Q5VSL9-2;Q5VSL9	.;FA40A_HUMAN	F	169;264	ENSP00000358811:I169F;ENSP00000358810:I264F	ENSP00000358810:I264F	I	+	1	0	FAM40A	110385911	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.122000	0.57910	2.206000	0.71126	0.533000	0.62120	ATC		0.532	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088		75	258	0	0	0	0.00361	0	75	258				
KCNC4	3749	broad.mit.edu	37	1	110754218	110754218	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:110754218G>T	ENST00000369787.3	+	1	124	c.97G>T	c.(97-99)Gag>Tag	p.E33*	KCNC4_ENST00000413138.3_Nonsense_Mutation_p.E33*|KCNC4_ENST00000438661.2_Nonsense_Mutation_p.E33*|KCNC4-AS1_ENST00000455967.1_RNA	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	33					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.E33*(4)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGCCAAGGGCGAGGCGTCGGA	0.627																																							uc001dzh.2		NA																	4	Substitution - Nonsense(4)		lung(4)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(97-99)GAG>TAG		Shaw-related voltage-gated potassium channel							51.0	51.0	51.0					1																	110754218		2203	4300	6503	SO:0001587	stop_gained	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110754218G>T	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.97G>T	1.37:g.110754218G>T	ENSP00000358802:p.Glu33*					KCNC4_uc001dzf.2_Nonsense_Mutation_p.E33*|KCNC4_uc009wfr.2_Nonsense_Mutation_p.E33*|KCNC4_uc001dzg.2_Nonsense_Mutation_p.E33*|KCNC4_uc001dzi.2_RNA	p.E33*	NM_004978	NP_004969	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	154	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	33			Cytoplasmic (Potential).		Q3MIM4|Q5TBI6	Nonsense_Mutation	SNP	ENST00000369787.3	37	c.97G>T	CCDS821.1	.	.	.	.	.	.	.	.	.	.	G	37	6.024115	0.97211	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	.	.	.	3.33	3.33	0.38152	.	0.129964	0.50627	U	0.000107	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	14.4289	0.67236	0.0:0.0:1.0:0.0	.	.	.	.	X	33	.	ENSP00000358802:E33X	E	+	1	0	KCNC4	110555741	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.260000	0.95568	1.714000	0.51371	0.462000	0.41574	GAG		0.627	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		12	39	1	0	5.50884e-06	0.001368	6.07978e-06	12	39				
CHI3L2	1117	broad.mit.edu	37	1	111778693	111778693	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:111778693G>T	ENST00000445067.2	+	9	1424	c.653G>T	c.(652-654)tGg>tTg	p.W218L	CHI3L2_ENST00000369744.2_Missense_Mutation_p.W208L|CHI3L2_ENST00000524472.1_Missense_Mutation_p.W139L|CHI3L2_ENST00000466741.1_Missense_Mutation_p.W139L|CHI3L2_ENST00000369748.4_Missense_Mutation_p.W218L			Q15782	CH3L2_HUMAN	chitinase 3-like 2	218					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)	extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.W218L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		CATGGGTCTTGGGAAAAGCCC	0.512																																							uc001eam.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(652-654)TGG>TTG		chitinase 3-like 2 isoform a							135.0	135.0	135.0					1																	111778693		2203	4300	6503	SO:0001583	missense	1117				chitin catabolic process	extracellular space	cation binding|chitinase activity	g.chr1:111778693G>T	U49835	CCDS30802.1, CCDS30803.1, CCDS41367.1	1p13.3	2008-02-05			ENSG00000064886	ENSG00000064886			1933	protein-coding gene	gene with protein product		601526				8702629	Standard	NM_001025197		Approved	YKL-39, YKL39	uc001eam.3	Q15782	OTTHUMG00000012174	ENST00000445067.2:c.653G>T	1.37:g.111778693G>T	ENSP00000437082:p.Trp218Leu					CHI3L2_uc001ean.2_Missense_Mutation_p.W208L|CHI3L2_uc001eao.2_Missense_Mutation_p.W139L|CHI3L2_uc009wga.2_Missense_Mutation_p.W139L	p.W218L	NM_004000	NP_003991	Q15782	CH3L2_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)	7	724	+		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)	218					A6NNY3|B4DPR7|Q15749|Q15783|Q5VUV7|Q96F97	Missense_Mutation	SNP	ENST00000445067.2	37	c.653G>T	CCDS30802.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.51|17.51	3.407543|3.407543	0.62399|0.62399	.|.	.|.	ENSG00000064886|ENSG00000064886	ENST00000533831|ENST00000445067;ENST00000528451;ENST00000369744;ENST00000369748;ENST00000474304;ENST00000466741;ENST00000477185;ENST00000467038;ENST00000524472;ENST00000497220	.|T;T;T;T;T;T;T;T;T	.|0.10288	.|2.89;2.89;2.89;2.89;2.89;2.89;2.89;2.89;2.89	3.02|3.02	2.07|2.07	0.26955|0.26955	.|Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.|0.231155	.|0.22527	.|N	.|0.058885	T|T	0.08670|0.08670	0.0215|0.0215	M|M	0.86420|0.86420	2.815|2.815	0.40843|0.40843	D|D	0.983689|0.983689	.|B;P;P	.|0.36599	.|0.407;0.56;0.56	.|B;B;B	.|0.36418	.|0.164;0.164;0.224	T|T	0.02093|0.02093	-1.1215|-1.1215	5|10	.|0.66056	.|D	.|0.02	-1.1519|-1.1519	9.147|9.147	0.36939|0.36939	0.0:0.0:0.7804:0.2196|0.0:0.0:0.7804:0.2196	.|.	.|139;208;218	.|B4DPR7;A6NNY3;Q15782	.|.;.;CH3L2_HUMAN	W|L	95|218;218;208;218;199;139;139;120;139;72	.|ENSP00000437082:W218L;ENSP00000436077:W218L;ENSP00000358759:W208L;ENSP00000358763:W218L;ENSP00000437086:W139L;ENSP00000436272:W139L;ENSP00000431978:W120L;ENSP00000432049:W139L;ENSP00000435250:W72L	.|ENSP00000358759:W208L	G|W	+|+	1|2	0|0	CHI3L2|CHI3L2	111580216|111580216	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.782000|5.782000	0.68973|0.68973	0.545000|0.545000	0.28902|0.28902	0.561000|0.561000	0.74099|0.74099	GGG|TGG		0.512	CHI3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033669.4	NM_004000		48	165	1	0	8.72198e-27	0.00361	1.56916e-26	48	165				
SLC16A1	6566	broad.mit.edu	37	1	113456702	113456702	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:113456702G>A	ENST00000538576.1	-	5	2145	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F	SLC16A1_ENST00000369626.3_Silent_p.F438F	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	438					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.F438F(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	CCATGCCAATGAAGAGATAGA	0.398																																							uc001ecx.2		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(1312-1314)TTC>TTT		solute carrier family 16, member 1	Pyruvic acid(DB00119)						146.0	137.0	140.0					1																	113456702		2203	4300	6503	SO:0001819	synonymous_variant	6566				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr1:113456702G>A	BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.1314C>T	1.37:g.113456702G>A						SLC16A1_uc001ecy.2_Silent_p.F438F	p.F438F	NM_003051	NP_003042	P53985	MOT1_HUMAN		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	5	2146	-	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)	438			Helical; (Potential).		Q49A45|Q5T8R6|Q9NSJ9	Silent	SNP	ENST00000538576.1	37	c.1314C>T	CCDS858.1																																																																																				0.398	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033539.1	NM_003051		42	163	0	0	0	0.007835	0	42	163				
HSD3B2	3284	broad.mit.edu	37	1	119964605	119964605	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:119964605G>C	ENST00000543831.1	+	4	730	c.481G>C	c.(481-483)Gct>Cct	p.A161P	HSD3B2_ENST00000369416.3_Missense_Mutation_p.A161P	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	161					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)	p.A161P(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	CAAAAAGCTTGCTGAGAAGGC	0.502																																							uc001ehs.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(481-483)GCT>CCT		3 beta-hydroxysteroid dehydrogenase 2	NADH(DB00157)|Trilostane(DB01108)						79.0	80.0	80.0					1																	119964605		2203	4300	6503	SO:0001583	missense	3284				androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:119964605G>C	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5218	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 2"""	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.481G>C	1.37:g.119964605G>C	ENSP00000445122:p.Ala161Pro					HSD3B2_uc001eht.2_Missense_Mutation_p.A161P|HSD3B2_uc001ehu.2_Intron	p.A161P	NM_000198	NP_000189	P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	3	1254	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	161					A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Missense_Mutation	SNP	ENST00000543831.1	37	c.481G>C	CCDS902.1	.	.	.	.	.	.	.	.	.	.	-	18.08	3.544793	0.65198	.	.	ENSG00000203859	ENST00000543831;ENST00000433745;ENST00000369416	D;D;D	0.91521	-2.86;-2.86;-2.86	3.98	3.98	0.46160	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.96710	0.8926	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98231	1.0483	9	.	.	.	-9.4407	15.0984	0.72253	0.0:0.0:1.0:0.0	.	161	P26439	3BHS2_HUMAN	P	161	ENSP00000445122:A161P;ENSP00000388292:A161P;ENSP00000358424:A161P	.	A	+	1	0	HSD3B2	119766128	1.000000	0.71417	0.998000	0.56505	0.340000	0.28889	9.236000	0.95360	1.795000	0.52594	0.298000	0.19748	GCT		0.502	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198		41	136	0	0	0	0.009718	0	41	136				
C1orf56	54964	broad.mit.edu	37	1	151020974	151020974	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:151020974C>A	ENST00000368926.5	+	1	759	c.651C>A	c.(649-651)acC>acA	p.T217T		NM_017860.3	NP_060330.2	Q9BUN1	MENT_HUMAN	chromosome 1 open reading frame 56	217						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.T217T(2)		endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGTCGGGCACCATGAGCCGGA	0.677											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(146;891 3320 6873)	GBM(146;891 3320 6873)	uc001ewn.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(649-651)ACC>ACA		hypothetical protein LOC54964 precursor							41.0	47.0	45.0					1																	151020974		2203	4298	6501	SO:0001819	synonymous_variant	54964					extracellular region		g.chr1:151020974C>A	BC002469	CCDS980.1	1q21.2	2013-09-20			ENSG00000143443	ENSG00000143443			26045	protein-coding gene	gene with protein product	"""methylated in normal thymocytes"""					12975309, 22133874	Standard	NM_017860		Approved	FLJ20519, MENT	uc001ewn.3	Q9BUN1	OTTHUMG00000035159	ENST00000368926.5:c.651C>A	1.37:g.151020974C>A			OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1737		p.T217T	NM_017860	NP_060330	Q9BUN1	CA056_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		1	716	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		217					B2RDU8|Q9NWZ4	Silent	SNP	ENST00000368926.5	37	c.651C>A	CCDS980.1																																																																																				0.677	C1orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085101.1	NM_017860		58	171	1	0	4.6707e-30	0.00361	8.76312e-30	58	171				
FLG	2312	broad.mit.edu	37	1	152277375	152277375	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:152277375G>C	ENST00000368799.1	-	3	10022	c.9987C>G	c.(9985-9987)gaC>gaG	p.D3329E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3329	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.D3329E(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGTCTACTGTCTCTGACTG	0.572									Ichthyosis																														uc001ezu.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(9985-9987)GAC>GAG		filaggrin							402.0	392.0	395.0					1																	152277375		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152277375G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9987C>G	1.37:g.152277375G>C	ENSP00000357789:p.Asp3329Glu						p.D3329E	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10023	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3329			Filaggrin 20.|Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.9987C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	8.467	0.856555	0.17106	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.00882	5.58	2.79	-4.41	0.03590	.	.	.	.	.	T	0.00300	0.0009	N	0.25144	0.715	0.09310	N	1	B	0.32382	0.368	P	0.47528	0.549	T	0.38542	-0.9656	9	0.07990	T	0.79	.	1.4705	0.02414	0.2256:0.373:0.2532:0.1482	.	3329	P20930	FILA_HUMAN	E	3329;267	ENSP00000357789:D3329E	ENSP00000357786:D267E	D	-	3	2	FLG	150543999	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.267000	0.01170	-1.007000	0.03408	-2.208000	0.00301	GAC		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		228	650	0	0	0	0.00361	0	228	650				
FLG	2312	broad.mit.edu	37	1	152282083	152282083	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:152282083C>G	ENST00000368799.1	-	3	5314	c.5279G>C	c.(5278-5280)gGa>gCa	p.G1760A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1760	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G1760A(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGAACGTCCAGACCTTTC	0.597									Ichthyosis																														uc001ezu.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(5278-5280)GGA>GCA		filaggrin							210.0	215.0	213.0					1																	152282083		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282083C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5279G>C	1.37:g.152282083C>G	ENSP00000357789:p.Gly1760Ala						p.G1760A	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5315	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1760			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5279G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	8.186	0.794845	0.16327	.	.	ENSG00000143631	ENST00000368799	T	0.01572	4.76	1.94	0.98	0.19750	.	.	.	.	.	T	0.02267	0.0070	M	0.80982	2.52	0.09310	N	1	D	0.76494	0.999	D	0.76071	0.987	T	0.33675	-0.9859	9	0.07990	T	0.79	0.0113	6.3291	0.21260	0.0:0.6869:0.3131:0.0	.	1760	P20930	FILA_HUMAN	A	1760	ENSP00000357789:G1760A	ENSP00000357789:G1760A	G	-	2	0	FLG	150548707	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.131000	0.15870	0.364000	0.24374	0.461000	0.40582	GGA		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		223	394	0	0	0	0.00361	0	223	394				
LCE1E	353135	broad.mit.edu	37	1	152759841	152759841	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:152759841C>T	ENST00000368770.3	+	2	119	c.66C>T	c.(64-66)ccC>ccT	p.P22P	LCE1E_ENST00000368771.1_Silent_p.P22P	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	22	Cys-rich.				keratinization (GO:0031424)			p.P22P(2)		lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			agtgccctcccaagtgTCCCA	0.622																																							uc001fan.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(64-66)CCC>CCT		late cornified envelope 1E							98.0	102.0	101.0					1																	152759841		2203	4300	6503	SO:0001819	synonymous_variant	353135				keratinization			g.chr1:152759841C>T	BC038391	CCDS1024.1	1q21.3	2008-02-05			ENSG00000186226	ENSG00000186226		"""Late cornified envelopes"""	29466	protein-coding gene	gene with protein product		612607				11698679	Standard	NM_178353		Approved	LEP5	uc001fan.3	Q5T753	OTTHUMG00000012405	ENST00000368770.3:c.66C>T	1.37:g.152759841C>T							p.P22P	NM_178353	NP_848130	Q5T753	LCE1E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	119	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		22			Cys-rich.		D3DV30	Silent	SNP	ENST00000368770.3	37	c.66C>T	CCDS1024.1																																																																																				0.622	LCE1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034525.1	NM_178353		97	259	0	0	0	0.00361	0	97	259				
NUP210L	91181	broad.mit.edu	37	1	153995618	153995618	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:153995618C>T	ENST00000368559.3	-	31	4349	c.4278G>A	c.(4276-4278)caG>caA	p.Q1426Q	NUP210L_ENST00000271854.3_Silent_p.Q1426Q|NUP210L_ENST00000368553.1_Silent_p.Q359Q	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1426					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.Q1426Q(2)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCAGATAAAGCTGGGTATTGT	0.408																																							uc001fdw.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(4276-4278)CAG>CAA		nucleoporin 210kDa-like isoform 1							112.0	107.0	109.0					1																	153995618		1881	4107	5988	SO:0001819	synonymous_variant	91181					integral to membrane		g.chr1:153995618C>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.4278G>A	1.37:g.153995618C>T						NUP210L_uc009woq.2_Silent_p.Q335Q|NUP210L_uc010peh.1_Silent_p.Q1426Q	p.Q1426Q	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		31	4350	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1426					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	c.4278G>A	CCDS41399.1																																																																																				0.408	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		41	135	0	0	0	0.00874	0	41	135				
BCAN	63827	broad.mit.edu	37	1	156618448	156618448	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:156618448C>G	ENST00000329117.5	+	6	1194	c.858C>G	c.(856-858)acC>acG	p.T286T	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Silent_p.T286T	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	286	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.T286T(4)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGATTGCCACCACGGGCCAAC	0.627																																							uc001fpp.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)|pancreas(1)	2						c.(856-858)ACC>ACG		brevican isoform 1							85.0	79.0	81.0					1																	156618448		2203	4300	6503	SO:0001819	synonymous_variant	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156618448C>G	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.858C>G	1.37:g.156618448C>G						BCAN_uc001fpo.2_Silent_p.T286T	p.T286T	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			6	1194	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		286			Link 2.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Silent	SNP	ENST00000329117.5	37	c.858C>G	CCDS1149.1																																																																																				0.627	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		99	199	0	0	0	0.00361	0	99	199				
SH2D2A	9047	broad.mit.edu	37	1	156784833	156784833	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:156784833G>T	ENST00000368199.3	-	3	457	c.304C>A	c.(304-306)Cgg>Agg	p.R102R	SH2D2A_ENST00000368198.3_Silent_p.R84R|SH2D2A_ENST00000392306.2_Silent_p.R102R|SH2D2A_ENST00000495306.1_5'UTR|NTRK1_ENST00000392302.2_5'Flank	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	102	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)	p.R102R(4)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACTCACCTCCGGGTGATGAAG	0.637																																							uc001fqd.2		NA																	4	Substitution - coding silent(4)		lung(4)		0						c.(304-306)CGG>AGG		SH2 domain protein 2A isoform 2							28.0	30.0	29.0					1																	156784833		2203	4300	6503	SO:0001819	synonymous_variant	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156784833G>T	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.304C>A	1.37:g.156784833G>T						SH2D2A_uc001fqc.1_Silent_p.R74R|SH2D2A_uc009wsh.2_Silent_p.R102R|SH2D2A_uc001fqe.2_Silent_p.R84R|SH2D2A_uc010phs.1_Silent_p.R102R|NTRK1_uc001fqf.1_5'Flank|NTRK1_uc009wsi.1_5'Flank	p.R102R	NM_003975	NP_003966	Q9NP31	SH22A_HUMAN			3	444	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		102			SH2.		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Silent	SNP	ENST00000368199.3	37	c.304C>A	CCDS1159.1																																																																																				0.637	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		5	51	1	0	0.000602214	0.000602	0.000638688	5	51				
KIRREL	55243	broad.mit.edu	37	1	158063219	158063219	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:158063219A>T	ENST00000359209.6	+	12	1629	c.1562A>T	c.(1561-1563)tAc>tTc	p.Y521F	KIRREL_ENST00000360089.4_Missense_Mutation_p.Y357F|KIRREL_ENST00000392272.2_Missense_Mutation_p.Y418F|KIRREL_ENST00000368173.3_Missense_Mutation_p.Y537F|KIRREL_ENST00000368172.1_Missense_Mutation_p.Y335F|KIRREL_ENST00000416935.2_Missense_Mutation_p.Y421F			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	521					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)	p.Y521F(2)|p.Y357F(2)|p.Y537F(2)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TTCTTCCTCTACCGGCGCCGC	0.602																																							uc001frn.3		NA																	6	Substitution - Missense(6)		lung(6)	ovary(1)	1						c.(1561-1563)TAC>TTC		kin of IRRE like precursor							143.0	139.0	140.0					1																	158063219		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158063219A>T	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1562A>T	1.37:g.158063219A>T	ENSP00000352138:p.Tyr521Phe					KIRREL_uc010pib.1_Missense_Mutation_p.Y421F|KIRREL_uc009wsq.2_Missense_Mutation_p.Y357F|KIRREL_uc001fro.3_Missense_Mutation_p.Y335F	p.Y521F	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN			12	1966	+	all_hematologic(112;0.0378)		521			Cytoplasmic (Potential).		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.1562A>T	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	A	14.12	2.440612	0.43326	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.70399	0.48;-0.48;0.15;-0.11;-0.01;0.33	5.71	5.71	0.89125	.	0.000000	0.39274	N	0.001418	T	0.69575	0.3126	L	0.50333	1.59	0.54753	D	0.999986	D;D;D;D	0.89917	0.997;1.0;0.997;0.997	D;D;D;D	0.80764	0.934;0.994;0.985;0.985	T	0.67995	-0.5526	10	0.10636	T	0.68	-23.0229	13.9221	0.63937	1.0:0.0:0.0:0.0	.	421;357;335;521	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	F	357;537;418;521;421;335	ENSP00000353202:Y357F;ENSP00000357155:Y537F;ENSP00000376098:Y418F;ENSP00000352138:Y521F;ENSP00000389674:Y421F;ENSP00000357154:Y335F	ENSP00000352138:Y521F	Y	+	2	0	KIRREL	156329843	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.941000	0.75922	2.173000	0.68751	0.402000	0.26972	TAC		0.602	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		112	153	0	0	0	0.00361	0	112	153				
CD1D	912	broad.mit.edu	37	1	158151904	158151904	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:158151904A>T	ENST00000368171.3	+	4	910	c.411A>T	c.(409-411)caA>caT	p.Q137H		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	137					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)	p.Q137H(2)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TAGCATTTCAAGGAAAAGATA	0.512																																							uc001frr.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(409-411)CAA>CAT		CD1D antigen precursor							135.0	148.0	144.0					1																	158151904		2203	4300	6503	SO:0001583	missense	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158151904A>T	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.411A>T	1.37:g.158151904A>T	ENSP00000357153:p.Gln137His					CD1D_uc009wsr.1_Missense_Mutation_p.Q137H|CD1D_uc009wss.2_Missense_Mutation_p.Q137H|CD1D_uc009wst.1_Missense_Mutation_p.Q33H	p.Q137H	NM_001766	NP_001757	P15813	CD1D_HUMAN			4	910	+	all_hematologic(112;0.0378)		137			Extracellular (Potential).		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	ENST00000368171.3	37	c.411A>T	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	A	17.65	3.443282	0.63067	.	.	ENSG00000158473	ENST00000368171	T	0.07444	3.19	4.74	3.61	0.41365	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.305164	0.24024	N	0.042247	T	0.14874	0.0359	M	0.87381	2.88	0.30761	N	0.744117	D	0.76494	0.999	P	0.62089	0.898	T	0.04961	-1.0915	10	0.66056	D	0.02	-1.2538	7.4115	0.27019	0.9009:0.0:0.0991:0.0	.	137	P15813	CD1D_HUMAN	H	137	ENSP00000357153:Q137H	ENSP00000357153:Q137H	Q	+	3	2	CD1D	156418528	0.286000	0.24305	0.742000	0.31022	0.004000	0.04260	0.015000	0.13355	0.933000	0.37291	-0.270000	0.10280	CAA		0.512	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		159	505	0	0	0	0.00361	0	159	505				
SPTA1	6708	broad.mit.edu	37	1	158644393	158644393	+	Silent	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:158644393A>T	ENST00000368147.4	-	9	1365	c.1185T>A	c.(1183-1185)gcT>gcA	p.A395A		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	395				A -> G (in Ref. 3; AAA60575). {ECO:0000305}.	actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.A395A(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCAGCTCATCAGCATTGATCG	0.507																																							uc001fst.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1183-1185)GCT>GCA		spectrin, alpha, erythrocytic 1							162.0	155.0	158.0					1																	158644393		1992	4185	6177	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158644393A>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1185T>A	1.37:g.158644393A>T							p.A395A	NM_003126	NP_003117	P02549	SPTA1_HUMAN			9	1384	-	all_hematologic(112;0.0378)		395	A -> G (in Ref. 3; AAA60575).		Spectrin 5.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.1185T>A	CCDS41423.1																																																																																				0.507	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		101	232	0	0	0	0.00361	0	101	232				
ATP1A4	480	broad.mit.edu	37	1	160146346	160146346	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:160146346T>A	ENST00000368081.4	+	17	3015	c.2544T>A	c.(2542-2544)gaT>gaA	p.D848E	ATP1A4_ENST00000470705.1_5'Flank|ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	848					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.D848E(2)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAAAGACGGATAATCTGGTGA	0.567																																							uc001fve.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(2542-2544)GAT>GAA		Na+/K+ -ATPase alpha 4 subunit isoform 1							74.0	63.0	67.0					1																	160146346		2203	4300	6503	SO:0001583	missense	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160146346T>A	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2544T>A	1.37:g.160146346T>A	ENSP00000357060:p.Asp848Glu					ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.D351E|ATP1A4_uc001fvh.2_5'Flank	p.D848E	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		17	3023	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		848			Cytoplasmic (Potential).		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.2544T>A	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	T	14.95	2.689228	0.48097	.	.	ENSG00000132681	ENST00000368081	D	0.88046	-2.33	4.8	-4.01	0.04045	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.052482	0.64402	N	0.000001	T	0.69214	0.3086	L	0.56280	1.765	0.80722	D	1	B	0.12630	0.006	B	0.18263	0.021	T	0.55805	-0.8083	10	0.66056	D	0.02	.	7.0264	0.24942	0.1452:0.5083:0.0:0.3465	.	848	Q13733	AT1A4_HUMAN	E	848	ENSP00000357060:D848E	ENSP00000357060:D848E	D	+	3	2	ATP1A4	158412970	0.887000	0.30362	0.093000	0.20910	0.768000	0.43524	0.060000	0.14342	-0.584000	0.05913	0.459000	0.35465	GAT		0.567	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		25	70	0	0	0	0.003954	0	25	70				
LY9	4063	broad.mit.edu	37	1	160784485	160784485	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:160784485C>A	ENST00000263285.6	+	4	1036	c.1006C>A	c.(1006-1008)Cat>Aat	p.H336N	LY9_ENST00000368037.5_Missense_Mutation_p.H336N|LY9_ENST00000392203.4_Missense_Mutation_p.H336N|LY9_ENST00000368041.2_Missense_Mutation_p.H296N|LY9_ENST00000341032.4_Missense_Mutation_p.H336N|LY9_ENST00000368040.1_De_novo_Start_OutOfFrame			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	336	Ig-like V-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.H336N(2)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CGGCCCCTACCATGCCTACGT	0.572																																							uc001fwu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1006-1008)CAT>AAT		lymphocyte antigen 9 isoform a							54.0	51.0	52.0					1																	160784485		2203	4300	6503	SO:0001583	missense	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160784485C>A	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.1006C>A	1.37:g.160784485C>A	ENSP00000263285:p.His336Asn					LY9_uc010pjs.1_Missense_Mutation_p.H336N|LY9_uc001fwv.2_Missense_Mutation_p.H336N|LY9_uc001fww.2_Missense_Mutation_p.H336N|LY9_uc001fwx.2_Missense_Mutation_p.H336N|LY9_uc001fwy.1_Missense_Mutation_p.H238N|LY9_uc001fwz.2_5'UTR	p.H336N	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		4	1056	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		336			Extracellular (Potential).|Ig-like V-type 2.		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.1006C>A	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	C	5.928	0.355279	0.11239	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000542780;ENST00000392203;ENST00000368037;ENST00000368036	T;T	0.01527	4.8;4.8	2.83	-0.483	0.12075	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00580	0.0019	L	0.43923	1.385	0.21822	N	0.999521	B;B;B;B;B;B	0.18166	0.003;0.013;0.015;0.026;0.023;0.013	B;B;B;B;B;B	0.17433	0.005;0.005;0.001;0.018;0.012;0.005	T	0.45775	-0.9238	9	0.48119	T	0.1	2.7949	2.3128	0.04191	0.2607:0.4203:0.0:0.3189	.	336;296;296;336;336;336	B4E0J5;Q5VYH7;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7	.;.;.;.;.;LY9_HUMAN	N	336;336;336;336;296;296;238	ENSP00000342921:H336N;ENSP00000263285:H336N	ENSP00000263285:H336N	H	+	1	0	LY9	159051109	0.014000	0.17966	0.028000	0.17463	0.033000	0.12548	-0.103000	0.10940	-0.106000	0.12110	0.563000	0.77884	CAT		0.572	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		29	68	1	0	9.80776e-20	0.00632	1.59023e-19	29	68				
DPT	1805	broad.mit.edu	37	1	168670292	168670292	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:168670292T>A	ENST00000367817.3	-	3	591	c.502A>T	c.(502-504)Atc>Ttc	p.I168F		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	168	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion (GO:0007155)|collagen fibril organization (GO:0030199)|negative regulation of cell proliferation (GO:0008285)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.I168F(2)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					GCTCCTCGGATATAGTAATCA	0.443																																							uc001gfp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(502-504)ATC>TTC		dermatopontin precursor							187.0	177.0	180.0					1																	168670292		2203	4300	6503	SO:0001583	missense	1805				cell adhesion	extracellular space|proteinaceous extracellular matrix		g.chr1:168670292T>A	BC033736	CCDS1275.1	1q12-q23	2008-02-05			ENSG00000143196	ENSG00000143196			3011	protein-coding gene	gene with protein product		125597				8104875	Standard	NM_001937		Approved		uc001gfp.3	Q07507	OTTHUMG00000034554	ENST00000367817.3:c.502A>T	1.37:g.168670292T>A	ENSP00000356791:p.Ile168Phe						p.I168F	NM_001937	NP_001928	Q07507	DERM_HUMAN			3	518	-	all_hematologic(923;0.208)		168			2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].		A8K981|Q8N4R2|Q9UIX8	Missense_Mutation	SNP	ENST00000367817.3	37	c.502A>T	CCDS1275.1	.	.	.	.	.	.	.	.	.	.	T	15.10	2.733853	0.48939	.	.	ENSG00000143196	ENST00000367817	T	0.56611	0.45	5.51	5.51	0.81932	.	0.359353	0.34507	N	0.003916	T	0.29556	0.0737	L	0.48642	1.525	0.36186	D	0.849784	B	0.32160	0.358	B	0.33042	0.157	T	0.34700	-0.9818	9	0.45353	T	0.12	-16.1699	9.2243	0.37395	0.0:0.0818:0.0:0.9182	.	168	Q07507	DERM_HUMAN	F	168	ENSP00000356791:I168F	ENSP00000356791:I168F	I	-	1	0	DPT	166936916	0.994000	0.37717	0.913000	0.36048	0.991000	0.79684	3.260000	0.51523	2.092000	0.63282	0.524000	0.50904	ATC		0.443	DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083618.1	NM_001937		57	207	0	0	0	0.00361	0	57	207				
SELP	6403	broad.mit.edu	37	1	169566297	169566297	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:169566297A>T	ENST00000263686.6	-	11	1860	c.1823T>A	c.(1822-1824)cTg>cAg	p.L608Q	SELP_ENST00000367791.2_Intron|SELP_ENST00000367786.2_Missense_Mutation_p.L546Q|SELP_ENST00000458599.2_Intron|SELP_ENST00000367794.2_Missense_Mutation_p.L546Q|SELP_ENST00000367788.2_Missense_Mutation_p.L546Q|SELP_ENST00000367793.2_Missense_Mutation_p.L546Q|SELP_ENST00000367792.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	608	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.L608Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	GGGCCCCTCCAGCTTAAAGCC	0.483																																							uc001ggi.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(1822-1824)CTG>CAG		selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						72.0	75.0	74.0					1																	169566297		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169566297A>T	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1823T>A	1.37:g.169566297A>T	ENSP00000263686:p.Leu608Gln					SELP_uc001ggh.2_Missense_Mutation_p.L443Q|SELP_uc009wvr.2_Missense_Mutation_p.L608Q	p.L608Q	NM_003005	NP_002996	P16109	LYAM3_HUMAN			11	1888	-	all_hematologic(923;0.208)		608			Extracellular (Potential).|Sushi 7.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.1823T>A	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	A	12.41	1.929313	0.34096	.	.	ENSG00000174175	ENST00000367790;ENST00000426706;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367788;ENST00000367786;ENST00000458599	T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53	5.14	5.14	0.70334	Complement control module (2);Sushi/SCR/CCP (3);	0.408748	0.18021	N	0.154230	D	0.86744	0.6006	H	0.97707	4.06	0.44754	D	0.997759	D;D;D	0.64830	0.994;0.994;0.987	D;D;D	0.69824	0.95;0.966;0.917	D	0.90228	0.4277	10	0.87932	D	0	-2.3204	11.3512	0.49589	1.0:0.0:0.0:0.0	.	608;608;608	Q6NUL9;P16109;G3V1U2	.;LYAM3_HUMAN;.	Q	608;607;608;608;546;546;546;546;531	ENSP00000263686:L608Q;ENSP00000356767:L546Q;ENSP00000356768:L546Q;ENSP00000356762:L546Q;ENSP00000356760:L546Q	ENSP00000263686:L608Q	L	-	2	0	SELP	167832921	0.061000	0.20836	0.017000	0.16124	0.078000	0.17371	2.752000	0.47516	1.903000	0.55091	0.533000	0.62120	CTG		0.483	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		15	138	0	0	0	0.003163	0	15	138				
SUCO	51430	broad.mit.edu	37	1	172558355	172558355	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:172558355G>T	ENST00000263688.3	+	18	2333	c.2114G>T	c.(2113-2115)aGt>aTt	p.S705I	SUCO_ENST00000610051.1_Intron|SUCO_ENST00000367723.4_Missense_Mutation_p.S856I|SUCO_ENST00000608151.1_Missense_Mutation_p.S857I	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	705					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)		p.S705I(2)|p.S857I(2)									TTAAGTAGTAGTATGCACCAG	0.388																																						Colon(43;174 953 11768 38880 47057)	uc001giq.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(2113-2115)AGT>ATT		chromosome 1 open reading frame 9 protein							104.0	101.0	102.0					1																	172558355		2203	4299	6502	SO:0001583	missense	51430				multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane		g.chr1:172558355G>T	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.2114G>T	1.37:g.172558355G>T	ENSP00000263688:p.Ser705Ile					C1orf9_uc010pmm.1_Missense_Mutation_p.S705I|C1orf9_uc009wwd.2_Missense_Mutation_p.S661I|C1orf9_uc010pmn.1_Intron|C1orf9_uc010pmo.1_RNA	p.S705I	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)	18	2430	+		Breast(1374;0.212)	705					B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	c.2114G>T	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	G	1.593	-0.528460	0.04112	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	0.235	0.235	0.15431	.	0.846645	0.11157	N	0.593518	T	0.10937	0.0267	M	0.62723	1.935	0.09310	N	1	P;B;B	0.47604	0.898;0.116;0.059	B;B;B	0.31290	0.127;0.011;0.046	T	0.12477	-1.0546	8	0.33940	T	0.23	-0.0569	.	.	.	.	705;857;705	B4DZJ3;Q5H945;Q9UBS9	.;.;OSPT_HUMAN	I	857;705	.	ENSP00000263688:S705I	S	+	2	0	C1orf9	170824978	0.001000	0.12720	0.002000	0.10522	0.807000	0.45602	0.364000	0.20325	0.308000	0.22923	0.313000	0.20887	AGT		0.388	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		75	165	1	0	1.15074e-40	0.00361	2.27264e-40	75	165				
PAPPA2	60676	broad.mit.edu	37	1	176738883	176738883	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:176738883C>T	ENST00000367662.3	+	16	5628	c.4464C>T	c.(4462-4464)cgC>cgT	p.R1488R		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1488	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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.R1488R(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTCTGAAACGCTGCTCAATCT	0.522																																							uc001gkz.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(4462-4464)CGC>CGT		pappalysin 2 isoform 1							123.0	122.0	123.0					1																	176738883		1992	4170	6162	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176738883C>T	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.4464C>T	1.37:g.176738883C>T						PAPPA2_uc009www.2_RNA	p.R1488R	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			16	5628	+			1488			Sushi 2.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.4464C>T	CCDS41438.1																																																																																				0.522	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			22	222	0	0	0	0.001882	0	22	222				
ASTN1	460	broad.mit.edu	37	1	176927497	176927497	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:176927497C>G	ENST00000367654.3	-	10	1955	c.1744G>C	c.(1744-1746)Gat>Cat	p.D582H	ASTN1_ENST00000367657.3_Missense_Mutation_p.D574H|ASTN1_ENST00000361833.2_Missense_Mutation_p.D574H|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.D574H	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	582					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.D574H(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCCACAGCATCCTCCATCACA	0.532																																							uc001glc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(1720-1722)GAT>CAT		astrotactin isoform 1							125.0	94.0	105.0					1																	176927497		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176927497C>G	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1744G>C	1.37:g.176927497C>G	ENSP00000356626:p.Asp582His					ASTN1_uc001glb.1_Missense_Mutation_p.D574H|ASTN1_uc001gld.1_Missense_Mutation_p.D574H|ASTN1_uc009wwx.1_Missense_Mutation_p.D574H	p.D574H	NM_004319	NP_004310	O14525	ASTN1_HUMAN			10	1932	-			582					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.1720G>C		.	.	.	.	.	.	.	.	.	.	C	25.0	4.589101	0.86851	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.19938	2.11;2.52;2.52;2.11	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.37517	0.1006	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.79108	0.992;0.98;0.98	T	0.16571	-1.0398	10	0.87932	D	0	-25.5837	18.9852	0.92766	0.0:1.0:0.0:0.0	.	582;574;574	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	H	574;574;582;574;574	ENSP00000356629:D574H;ENSP00000354536:D574H;ENSP00000356626:D582H;ENSP00000395041:D574H	ENSP00000354536:D574H	D	-	1	0	ASTN1	175194120	1.000000	0.71417	0.981000	0.43875	0.954000	0.61252	7.711000	0.84669	2.572000	0.86782	0.655000	0.94253	GAT		0.532	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		34	86	0	0	0	0.003755	0	34	86				
ASTN1	460	broad.mit.edu	37	1	176998824	176998824	+	Missense_Mutation	SNP	C	C	G	rs267598198		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:176998824C>G	ENST00000367654.3	-	5	1277	c.1066G>C	c.(1066-1068)Gac>Cac	p.D356H	MIR488_ENST00000365739.2_RNA|ASTN1_ENST00000367657.3_Missense_Mutation_p.D356H|ASTN1_ENST00000361833.2_Missense_Mutation_p.D356H|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.D356H	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	356					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.D356H(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGCTGGGGGTCGTTTTCTGCC	0.507																																							uc001glc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(1066-1068)GAC>CAC		astrotactin isoform 1							69.0	64.0	66.0					1																	176998824		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176998824C>G	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1066G>C	1.37:g.176998824C>G	ENSP00000356626:p.Asp356His					ASTN1_uc001glb.1_Missense_Mutation_p.D356H|ASTN1_uc001gld.1_Missense_Mutation_p.D356H|ASTN1_uc009wwx.1_Missense_Mutation_p.D356H|ASTN1_uc001gle.3_RNA|MIR488_hsa-mir-488|MI0003123_5'Flank	p.D356H	NM_004319	NP_004310	O14525	ASTN1_HUMAN			5	1278	-			356					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.1066G>C		.	.	.	.	.	.	.	.	.	.	C	27.5	4.836609	0.91117	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.17370	2.28;2.69;2.69;2.28	5.03	5.03	0.67393	.	0.051874	0.85682	D	0.000000	T	0.23014	0.0556	N	0.14661	0.345	0.58432	D	0.999992	D;D;D	0.57571	0.98;0.963;0.963	P;P;P	0.57679	0.825;0.825;0.825	T	0.08953	-1.0697	10	0.66056	D	0.02	-34.671	18.3563	0.90358	0.0:1.0:0.0:0.0	.	356;356;356	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	H	356	ENSP00000356629:D356H;ENSP00000354536:D356H;ENSP00000356626:D356H;ENSP00000395041:D356H	ENSP00000354536:D356H	D	-	1	0	ASTN1	175265447	1.000000	0.71417	0.981000	0.43875	0.945000	0.59286	7.061000	0.76699	2.469000	0.83416	0.650000	0.86243	GAC		0.507	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		21	70	0	0	0	0.001882	0	21	70				
KIAA1614	57710	broad.mit.edu	37	1	180885793	180885793	+	Missense_Mutation	SNP	C	C	T	rs372280369	byFrequency	TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:180885793C>T	ENST00000367588.4	+	2	609	c.554C>T	c.(553-555)cCg>cTg	p.P185L		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	185								p.P185L(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AGGGGGAGCCCGTGGCCTCCA	0.642													C|||	2	0.000399361	0.0	0.0	5008	,	,		16846	0.001		0.0	False		,,,				2504	0.001						uc001gok.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(553-555)CCG>CTG		hypothetical protein LOC57710		C	LEU/PRO	0,3822		0,0,1911	42.0	47.0	45.0		554	-4.8	0.1	1		45	1,8231		0,1,4115	no	missense	KIAA1614	NM_020950.1	98	0,1,6026	TT,TC,CC		0.0121,0.0,0.0083	benign	185/1191	180885793	1,12053	1911	4116	6027	SO:0001583	missense	57710							g.chr1:180885793C>T	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.554C>T	1.37:g.180885793C>T	ENSP00000356560:p.Pro185Leu						p.P185L	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN			2	621	+			185					Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	c.554C>T	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	C	1.215	-0.628541	0.03610	0.0	1.21E-4	ENSG00000135835	ENST00000367588	T	0.05513	3.43	4.15	-4.8	0.03190	.	0.469726	0.15954	N	0.236577	T	0.02727	0.0082	N	0.24115	0.695	0.25823	N	0.984263	B	0.17465	0.022	B	0.09377	0.004	T	0.36456	-0.9747	9	0.33141	T	0.24	-0.1314	0.7679	0.01018	0.1523:0.256:0.2707:0.321	.	185	Q5VZ46	K1614_HUMAN	L	185	ENSP00000356560:P185L	ENSP00000356560:P185L	P	+	2	0	KIAA1614	179152416	0.000000	0.05858	0.079000	0.20413	0.181000	0.23173	-0.897000	0.04110	-0.648000	0.05437	0.467000	0.42956	CCG		0.642	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		46	148	0	0	0	0.00361	0	46	148				
CACNA1E	777	broad.mit.edu	37	1	181546938	181546938	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:181546938C>A	ENST00000367573.2	+	4	549	c.549C>A	c.(547-549)caC>caA	p.H183Q	CACNA1E_ENST00000367570.1_Missense_Mutation_p.H183Q|CACNA1E_ENST00000367567.4_De_novo_Start_InFrame|CACNA1E_ENST00000357570.5_Missense_Mutation_p.H134Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.H183Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.H134Q|CACNA1E_ENST00000526775.1_Missense_Mutation_p.H183Q	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	183					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.H183Q(4)		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						TCAATACTCACGTGGACCTGA	0.552																																							uc001gow.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(547-549)CAC>CAA		calcium channel, voltage-dependent, R type,							57.0	61.0	59.0					1																	181546938		2030	4180	6210	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181546938C>A	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.549C>A	1.37:g.181546938C>A	ENSP00000356545:p.His183Gln					CACNA1E_uc009wxr.2_Missense_Mutation_p.H90Q|CACNA1E_uc009wxs.2_Missense_Mutation_p.H90Q	p.H183Q	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			4	714	+			183			I.|Extracellular (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.549C>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	T	11.30	1.599141	0.28534	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97256	-4.31;-4.31;-4.31;-4.31;-4.31;-4.31;-4.31	5.6	-9.89	0.00464	.	0.442251	0.25172	N	0.032592	D	0.87565	0.6209	N	0.05259	-0.085	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.004	T	0.64698	-0.6346	10	0.16896	T	0.51	.	13.959	0.64166	0.0677:0.4374:0.0:0.4949	.	183;183	Q15878-2;Q15878-3	.;.	Q	183;183;183;134;134;183;183	ENSP00000432038:H183Q;ENSP00000356542:H183Q;ENSP00000434814:H183Q;ENSP00000350183:H134Q;ENSP00000351101:H134Q;ENSP00000353222:H183Q;ENSP00000356545:H183Q	ENSP00000350183:H134Q	H	+	3	2	CACNA1E	179813561	0.000000	0.05858	0.152000	0.22495	0.885000	0.51271	-4.198000	0.00275	-2.577000	0.00464	-2.201000	0.00304	CAC		0.552	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		12	28	1	0	7.03913e-09	0.001368	8.48139e-09	12	28				
TRMT1L	81627	broad.mit.edu	37	1	185106753	185106753	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:185106753C>G	ENST00000367506.5	-	10	1766	c.1498G>C	c.(1498-1500)Ggt>Cgt	p.G500R	TRMT1L_ENST00000367504.3_Missense_Mutation_p.G344R	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	500	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.				adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)	p.G500R(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						ACCATATTACCATCCTTCTGA	0.348																																							uc001grf.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1498-1500)GGT>CGT		N2,N2-dimethylguanosine tRNA							120.0	120.0	120.0					1																	185106753		2203	4300	6503	SO:0001583	missense	81627					intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr1:185106753C>G	AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"""TRM1-like"""	611673	"""chromosome 1 open reading frame 25"", ""TRM1 tRNA methyltransferase 1-like"""	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.1498G>C	1.37:g.185106753C>G	ENSP00000356476:p.Gly500Arg					C1orf25_uc010pon.1_Missense_Mutation_p.G344R	p.G500R	NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN			10	1770	-			500					Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Missense_Mutation	SNP	ENST00000367506.5	37	c.1498G>C	CCDS1366.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773812	0.90108	.	.	ENSG00000121486	ENST00000367504;ENST00000367506;ENST00000458395	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.82761	0.5107	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.83473	0.0060	9	0.72032	D	0.01	-17.1943	20.0812	0.97776	0.0:1.0:0.0:0.0	.	500	Q7Z2T5	TRM1L_HUMAN	R	344;500;124	.	ENSP00000356474:G344R	G	-	1	0	TRMT1L	183373376	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.348000	0.79366	2.744000	0.94065	0.585000	0.79938	GGT		0.348	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1	NM_030934		11	170	0	0	0	0.008291	0	11	170				
HMCN1	83872	broad.mit.edu	37	1	185959564	185959564	+	Silent	SNP	G	G	A	rs199798509		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:185959564G>A	ENST00000271588.4	+	22	3595	c.3366G>A	c.(3364-3366)ccG>ccA	p.P1122P	HMCN1_ENST00000367492.2_Silent_p.P1122P|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1122	Ig-like C2-type 8.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.P1122P(2)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCATCTCACCGTTCTCTCCAA	0.468																																							uc001grq.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(22)|skin(1)	23						c.(3364-3366)CCG>CCA		hemicentin 1 precursor							109.0	98.0	102.0					1																	185959564		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185959564G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3366G>A	1.37:g.185959564G>A						HMCN1_uc001grr.1_Silent_p.P463P	p.P1122P	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			22	3595	+			1122			Ig-like C2-type 8.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.3366G>A	CCDS30956.1																																																																																				0.468	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		53	126	0	0	0	0.00361	0	53	126				
HMCN1	83872	broad.mit.edu	37	1	186114898	186114898	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:186114898G>T	ENST00000271588.4	+	93	14680	c.14451G>T	c.(14449-14451)tgG>tgT	p.W4817C	HMCN1_ENST00000367492.2_Missense_Mutation_p.W4817C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4817	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.W4817C(2)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGGAAGTTGGGGAAGCTGGC	0.502																																							uc001grq.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(22)|skin(1)	23						c.(14449-14451)TGG>TGT		hemicentin 1 precursor							67.0	68.0	68.0					1																	186114898		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186114898G>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14451G>T	1.37:g.186114898G>T	ENSP00000271588:p.Trp4817Cys					HMCN1_uc001grs.1_Missense_Mutation_p.W386C	p.W4817C	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			93	14680	+			4817			TSP type-1 6.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.14451G>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439272	0.83885	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.62788	0.0;0.0	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.87752	0.6256	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92201	0.5768	10	0.87932	D	0	.	19.2606	0.93967	0.0:0.0:1.0:0.0	.	4817	Q96RW7	HMCN1_HUMAN	C	4817	ENSP00000271588:W4817C;ENSP00000356462:W4817C	ENSP00000271588:W4817C	W	+	3	0	HMCN1	184381521	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.402000	0.97298	2.551000	0.86045	0.655000	0.94253	TGG		0.502	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		33	119	1	0	2.35958e-20	0.009718	3.87365e-20	33	119				
KCNT2	343450	broad.mit.edu	37	1	196197364	196197364	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:196197364G>T	ENST00000294725.9	-	28	4313	c.3398C>A	c.(3397-3399)aCt>aAt	p.T1133N	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.T1109N|KCNT2_ENST00000367431.4_Missense_Mutation_p.T1067N|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.T1066N			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1133					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.T1133N(2)		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						TCAAAGTTGAGTTTCCTCCCG	0.398																																							uc001gtd.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|breast(1)|skin(1)	7						c.(3397-3399)ACT>AAT		potassium channel, subfamily T, member 2							72.0	70.0	71.0					1																	196197364		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196197364G>T	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.3398C>A	1.37:g.196197364G>T	ENSP00000294725:p.Thr1133Asn					KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.T1066N|KCNT2_uc001gtf.1_Missense_Mutation_p.T1109N|KCNT2_uc001gtg.1_RNA	p.T1133N	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			28	3458	-			1133			Cytoplasmic (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.3398C>A	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432193	0.62844	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.29142	1.59;1.58;1.77	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000003	T	0.52933	0.1765	L	0.55990	1.75	0.80722	D	1	D;P;D	0.69078	0.997;0.837;0.996	D;P;D	0.68621	0.959;0.559;0.911	T	0.51702	-0.8672	10	0.87932	D	0	-13.8255	19.4708	0.94962	0.0:0.0:1.0:0.0	.	1109;1066;1133	Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;KCNT2_HUMAN	N	1109;1067;1133	ENSP00000356403:T1109N;ENSP00000356401:T1067N;ENSP00000294725:T1133N	ENSP00000294725:T1133N	T	-	2	0	KCNT2	194463987	1.000000	0.71417	1.000000	0.80357	0.511000	0.34104	6.551000	0.73909	2.699000	0.92147	0.650000	0.86243	ACT		0.398	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		10	49	1	0	1.76689e-08	0.006214	2.0843e-08	10	49				
PTPRC	5788	broad.mit.edu	37	1	198721475	198721475	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:198721475G>T	ENST00000367376.2	+	30	3470	c.3299G>T	c.(3298-3300)cGt>cTt	p.R1100L	PTPRC_ENST00000594404.1_Missense_Mutation_p.R939L|PTPRC_ENST00000352140.3_Missense_Mutation_p.R1052L|PTPRC_ENST00000348564.6_Missense_Mutation_p.R941L|PTPRC_ENST00000442510.2_Missense_Mutation_p.R1102L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1100	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R1100L(2)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TATACCCTTCGTGTCTTTGAA	0.358																																							uc001gur.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(3298-3300)CGT>CTT		protein tyrosine phosphatase, receptor type, C							109.0	103.0	105.0					1																	198721475		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198721475G>T	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3299G>T	1.37:g.198721475G>T	ENSP00000356346:p.Arg1100Leu					PTPRC_uc001gus.1_Missense_Mutation_p.R1052L|PTPRC_uc001gut.1_Missense_Mutation_p.R939L	p.R1100L	NM_002838	NP_002829	P08575	PTPRC_HUMAN			30	3479	+			1100			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.3299G>T		.	.	.	.	.	.	.	.	.	.	G	22.2	4.264352	0.80358	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T	0.19105	2.17	5.92	5.02	0.67125	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.47093	D	0.000258	T	0.62962	0.2471	H	0.97874	4.095	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.75484	0.986;0.986;0.986	T	0.78643	-0.2124	10	0.87932	D	0	.	14.9862	0.71351	0.0687:0.0:0.9313:0.0	.	941;1052;1100	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	L	1102;1052;1100;939	ENSP00000193532:R1052L	ENSP00000306782:R939L	R	+	2	0	PTPRC	196988098	1.000000	0.71417	0.491000	0.27477	0.703000	0.40648	6.816000	0.75247	1.531000	0.49152	-0.143000	0.13931	CGT		0.358	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				16	86	1	0	4.14922e-12	0.004007	5.66652e-12	16	86				
PPFIA4	8497	broad.mit.edu	37	1	203024729	203024729	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:203024729G>T	ENST00000447715.2	+	21	2374	c.1933G>T	c.(1933-1935)Ggc>Tgc	p.G645C	PPFIA4_ENST00000367240.2_Missense_Mutation_p.G646C|PPFIA4_ENST00000599966.1_Missense_Mutation_p.G161C|PPFIA4_ENST00000414050.2_Missense_Mutation_p.G374C|PPFIA4_ENST00000272198.6_Missense_Mutation_p.G161C|PPFIA4_ENST00000295706.4_Missense_Mutation_p.G161C			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	645					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)		p.G161C(2)|p.G792C(2)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						ACCACTCAGCGGCCGCTCCAC	0.662																																							uc001gyz.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(4)|skin(1)	5						c.(481-483)GGC>TGC		protein tyrosine phosphatase, receptor type, f							46.0	55.0	52.0					1																	203024729		2156	4252	6408	SO:0001583	missense	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203024729G>T	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.1933G>T	1.37:g.203024729G>T	ENSP00000402576:p.Gly645Cys					PPFIA4_uc009xaj.2_Missense_Mutation_p.G792C|PPFIA4_uc010pqf.1_Missense_Mutation_p.G374C|PPFIA4_uc001gza.2_Missense_Mutation_p.G161C|PPFIA4_uc001gzb.1_5'Flank	p.G161C	NM_015053	NP_055868	O75335	LIPA4_HUMAN			3	1074	+			161					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37	c.481G>T		.	.	.	.	.	.	.	.	.	.	g	35	5.462348	0.96240	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13	5.64	5.64	0.86602	.	0.000000	0.46442	D	0.000298	T	0.79673	0.4486	M	0.83483	2.645	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.81951	-0.0698	10	0.87932	D	0	-27.6746	19.706	0.96072	0.0:0.0:1.0:0.0	.	374;645;161;161	B4DIS5;B1N949;O75335-2;O75335	.;.;.;LIPA4_HUMAN	C	646;645;161;374;161	ENSP00000356209:G646C;ENSP00000402576:G645C;ENSP00000295706:G161C;ENSP00000400379:G374C;ENSP00000272198:G161C	ENSP00000272198:G161C	G	+	1	0	PPFIA4	201291352	1.000000	0.71417	0.986000	0.45419	0.979000	0.70002	9.861000	0.99562	2.649000	0.89929	0.457000	0.33378	GGC		0.662	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		12	55	1	0	3.32936e-07	0.006122	3.77487e-07	12	55				
PLEKHA6	22874	broad.mit.edu	37	1	204237428	204237428	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:204237428C>T	ENST00000272203.3	-	4	431	c.115G>A	c.(115-117)Gcc>Acc	p.A39T	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.A39T	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	39								p.A39T(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GCTTTGCGGGCTGTGCGAGTT	0.602																																							uc001hau.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(115-117)GCC>ACC		phosphoinositol 3-phosphate-binding protein-3							78.0	67.0	70.0					1																	204237428		2203	4300	6503	SO:0001583	missense	22874							g.chr1:204237428C>T	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.115G>A	1.37:g.204237428C>T	ENSP00000272203:p.Ala39Thr						p.A39T	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		4	432	-	all_cancers(21;0.0222)|Breast(84;0.179)		39					A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	c.115G>A	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.574887	0.28092	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.13089	2.62;2.62	5.58	0.481	0.16809	.	0.252810	0.32655	N	0.005813	T	0.06645	0.0170	N	0.19112	0.55	0.22479	N	0.999062	B	0.15141	0.012	B	0.18561	0.022	T	0.27468	-1.0073	10	0.37606	T	0.19	-15.0357	2.4731	0.04569	0.5418:0.1356:0.0711:0.2514	.	39	Q9Y2H5	PKHA6_HUMAN	T	39	ENSP00000272203:A39T;ENSP00000402046:A39T	ENSP00000272203:A39T	A	-	1	0	PLEKHA6	202504051	0.729000	0.28090	0.070000	0.20053	0.429000	0.31625	1.327000	0.33746	-0.169000	0.10834	-1.482000	0.00985	GCC		0.602	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		11	54	0	0	0	0.000978	0	11	54				
NUAK2	81788	broad.mit.edu	37	1	205290708	205290708	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:205290708C>G	ENST00000367157.3	-	1	175	c.49G>C	c.(49-51)Gca>Cca	p.A17P		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2									p.A17P(2)		breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCTAGCTCTGCGGCCGAGGGA	0.677																																							uc001hce.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|stomach(1)|breast(1)	5						c.(49-51)GCA>CCA		NUAK family, SNF1-like kinase, 2							21.0	26.0	25.0					1																	205290708		2202	4299	6501	SO:0001583	missense	81788				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:205290708C>G	AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.49G>C	1.37:g.205290708C>G	ENSP00000356125:p.Ala17Pro						p.A17P	NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		1	176	-	Breast(84;0.186)		17						Missense_Mutation	SNP	ENST00000367157.3	37	c.49G>C	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.152925	0.38021	.	.	ENSG00000163545	ENST00000367157	T	0.72725	-0.68	3.71	-0.583	0.11706	.	1.762940	0.03724	U	0.252260	T	0.46132	0.1377	N	0.12182	0.205	0.09310	N	1	B	0.31680	0.335	B	0.24394	0.053	T	0.34502	-0.9826	10	0.42905	T	0.14	.	0.6997	0.00905	0.1692:0.3458:0.1658:0.3193	.	17	Q9H093	NUAK2_HUMAN	P	17	ENSP00000356125:A17P	ENSP00000356125:A17P	A	-	1	0	NUAK2	203557331	0.207000	0.23482	0.000000	0.03702	0.006000	0.05464	0.521000	0.22893	-0.048000	0.13401	0.561000	0.74099	GCA		0.677	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952		11	21	0	0	0	0.008291	0	11	21				
MFSD4	148808	broad.mit.edu	37	1	205538353	205538353	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:205538353G>C	ENST00000367147.4	+	1	249	c.156G>C	c.(154-156)caG>caC	p.Q52H	RNU2-19P_ENST00000517288.1_RNA|MFSD4_ENST00000536357.1_Missense_Mutation_p.Q52H|MFSD4_ENST00000539267.1_Missense_Mutation_p.Q52H	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	52					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.Q52H(2)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CGCTGCCCCAGATCTCCTGGG	0.672																																							uc001hcv.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|central_nervous_system(1)	3						c.(154-156)CAG>CAC		major facilitator superfamily domain containing							22.0	16.0	18.0					1																	205538353		2199	4289	6488	SO:0001583	missense	148808				transmembrane transport	integral to membrane		g.chr1:205538353G>C	BC036549	CCDS1455.1	1q32.1	2008-02-05			ENSG00000174514	ENSG00000174514			25433	protein-coding gene	gene with protein product							Standard	NM_181644		Approved	DKFZp761N1114, FLJ34577, UNQ3064, FLJ25004	uc001hcv.4	Q8N468	OTTHUMG00000037197	ENST00000367147.4:c.156G>C	1.37:g.205538353G>C	ENSP00000356115:p.Gln52His					MFSD4_uc010prk.1_Missense_Mutation_p.Q52H|MFSD4_uc010prl.1_RNA	p.Q52H	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0908)		1	242	+	Breast(84;0.07)		52					B7Z8X3|Q6UY25|Q8NAY0|Q8TCP4	Missense_Mutation	SNP	ENST00000367147.4	37	c.156G>C	CCDS1455.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.725533	0.30593	.	.	ENSG00000174514	ENST00000367147;ENST00000539267;ENST00000536357	T;T;D	0.82167	0.23;0.23;-1.58	3.11	3.11	0.35812	Major facilitator superfamily domain, general substrate transporter (1);	0.315488	0.30269	N	0.010017	D	0.82568	0.5065	L	0.43152	1.355	0.36625	D	0.876004	B;P	0.52316	0.41;0.952	B;P	0.56960	0.135;0.81	D	0.83473	0.0060	10	0.42905	T	0.14	-5.1779	8.0753	0.30712	0.0:0.252:0.748:0.0	.	52;52	B7Z8X3;Q8N468	.;MFSD4_HUMAN	H	52	ENSP00000356115:Q52H;ENSP00000445329:Q52H;ENSP00000440183:Q52H	ENSP00000356115:Q52H	Q	+	3	2	MFSD4	203804976	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.070000	0.50033	1.569000	0.49696	0.467000	0.42956	CAG		0.672	MFSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090391.1	NM_181644		5	10	0	0	0	0.001984	0	5	10				
HHIPL2	79802	broad.mit.edu	37	1	222713410	222713410	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:222713410C>A	ENST00000343410.6	-	4	1450	c.1392G>T	c.(1390-1392)tgG>tgT	p.W464C		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	464					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)	p.W464C(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCTTTGCTCTCCAGCCATAGT	0.488																																							uc001hnh.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1390-1392)TGG>TGT		HHIP-like 2 precursor							93.0	96.0	95.0					1																	222713410		2203	4300	6503	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222713410C>A	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1392G>T	1.37:g.222713410C>A	ENSP00000342118:p.Trp464Cys						p.W464C	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	4	1450	-			464					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.1392G>T	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781666	0.70222	.	.	ENSG00000143512	ENST00000343410	T	0.38401	1.14	5.48	5.48	0.80851	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Glucose/Sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.062472	0.64402	D	0.000001	T	0.76557	0.4004	H	0.98276	4.19	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.86271	0.1661	10	0.87932	D	0	-4.9938	19.0129	0.92881	0.0:1.0:0.0:0.0	.	464	Q6UWX4	HIPL2_HUMAN	C	464	ENSP00000342118:W464C	ENSP00000342118:W464C	W	-	3	0	HHIPL2	220780033	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	5.562000	0.67346	2.567000	0.86603	0.585000	0.79938	TGG		0.488	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		47	148	1	0	3.21987e-24	0.00361	5.62585e-24	47	148				
SDE2	163859	broad.mit.edu	37	1	226176062	226176062	+	Silent	SNP	T	T	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:226176062T>G	ENST00000272091.7	-	6	687	c.669A>C	c.(667-669)gcA>gcC	p.A223A		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	223								p.A223A(2)|p.A211A(2)									TGGACCCTTCTGCAGTCTCTA	0.473																																							uc001hpu.3		NA																	4	Substitution - coding silent(4)		lung(4)	lung(1)	1						c.(667-669)GCA>GCC		hypothetical protein LOC163859							83.0	84.0	84.0					1																	226176062		1961	4155	6116	SO:0001819	synonymous_variant	163859							g.chr1:226176062T>G	BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751			26643	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 55"""	C1orf55		21333630	Standard	NM_152608		Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.669A>C	1.37:g.226176062T>G						C1orf55_uc001hpv.2_Silent_p.A223A	p.A223A	NM_152608	NP_689821	Q6IQ49	CA055_HUMAN			6	722	-	Breast(184;0.197)		223					A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Silent	SNP	ENST00000272091.7	37	c.669A>C	CCDS41473.1																																																																																				0.473	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091310.1	NM_152608		58	131	0	0	0	0.00361	0	58	131				
ITPKB	3707	broad.mit.edu	37	1	226822507	226822507	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:226822507C>A	ENST00000272117.3	-	7	2705	c.2706G>T	c.(2704-2706)acG>acT	p.T902T	ITPKB_ENST00000429204.1_Silent_p.T902T			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	902					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.T902T(2)|p.T428T(2)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CAGGCAGGGGCGTGGTTTTCC	0.597																																					Colon(84;110 1851 5306 33547)	Colon(84;110 1851 5306 33547)	uc010pvo.1		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(4)|central_nervous_system(1)	5						c.(2704-2706)ACG>ACT		1D-myo-inositol-trisphosphate 3-kinase B							104.0	84.0	91.0					1																	226822507		2203	4300	6503	SO:0001819	synonymous_variant	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226822507C>A	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2706G>T	1.37:g.226822507C>A							p.T902T	NM_002221	NP_002212	P27987	IP3KB_HUMAN			8	3046	-		Prostate(94;0.0773)	902					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Silent	SNP	ENST00000272117.3	37	c.2706G>T	CCDS1555.1																																																																																				0.597	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		18	49	1	0	1.33834e-09	0.007413	1.64269e-09	18	49				
CDC42BPA	8476	broad.mit.edu	37	1	227219083	227219083	+	Silent	SNP	T	T	G	rs181637825		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:227219083T>G	ENST00000366769.3	-	27	4877	c.3586A>C	c.(3586-3588)Aga>Cga	p.R1196R	CDC42BPA_ENST00000366766.2_Silent_p.R1231R|CDC42BPA_ENST00000366765.3_Silent_p.R1209R|CDC42BPA_ENST00000334218.5_Silent_p.R1196R|CDC42BPA_ENST00000366764.2_Silent_p.R1168R|CDC42BPA_ENST00000535525.1_Silent_p.R1176R|CDC42BPA_ENST00000366767.3_Silent_p.R1115R	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.R1231R(2)|p.R1115R(2)|p.R1196R(2)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GAGCGGTCTCTGAATTTGTTT	0.418																																							uc001hqr.2		NA																	6	Substitution - coding silent(6)		lung(6)	lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11						c.(3586-3588)AGA>CGA		CDC42-binding protein kinase alpha isoform B							165.0	165.0	165.0					1																	227219083		2203	4300	6503	SO:0001819	synonymous_variant	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227219083T>G	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.3586A>C	1.37:g.227219083T>G						CDC42BPA_uc001hqq.2_Silent_p.R495R|CDC42BPA_uc001hqs.2_Silent_p.R1115R|CDC42BPA_uc009xes.2_Silent_p.R1168R|CDC42BPA_uc010pvs.1_Silent_p.R1176R|CDC42BPA_uc001hqp.2_Silent_p.R352R|CDC42BPA_uc001hqt.2_Silent_p.R74R|CDC42BPA_uc001hqu.1_Silent_p.R403R	p.R1196R	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN			27	4529	-		all_cancers(173;0.156)|Prostate(94;0.0792)	1209						Silent	SNP	ENST00000366769.3	37	c.3586A>C	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	T	10.55	1.381587	0.24944	.	.	ENSG00000143776	ENST00000448940;ENST00000442054;ENST00000429440;ENST00000441725	.	.	.	5.71	3.31	0.37934	.	.	.	.	.	T	0.67011	0.2848	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62704	-0.6798	4	.	.	.	.	12.6409	0.56709	0.0:0.0:0.2613:0.7387	.	.	.	.	P	398;524;93;420	.	.	Q	-	2	0	CDC42BPA	225285706	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.251000	0.58778	0.396000	0.25283	0.533000	0.62120	CAG		0.418	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		147	234	0	0	0	0.00361	0	147	234				
OBSCN	84033	broad.mit.edu	37	1	228509335	228509335	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:228509335G>C	ENST00000422127.1	+	55	14837	c.14793G>C	c.(14791-14793)tgG>tgC	p.W4931C	OBSCN_ENST00000366707.4_Missense_Mutation_p.W2565C|OBSCN_ENST00000366709.4_Missense_Mutation_p.W2050C|OBSCN_ENST00000284548.11_Missense_Mutation_p.W4931C|OBSCN_ENST00000570156.2_Missense_Mutation_p.W5888C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4931	Ig-like 48.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.W5513C(2)|p.W4931C(2)|p.W5643C(2)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGCCCGCTGGCTGAAGGATG	0.637																																							uc009xez.1		NA																	6	Substitution - Missense(6)		lung(6)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(14791-14793)TGG>TGC		obscurin, cytoskeletal calmodulin and							41.0	45.0	44.0					1																	228509335		2174	4272	6446	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228509335G>C	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.14793G>C	1.37:g.228509335G>C	ENSP00000409493:p.Trp4931Cys					OBSCN_uc001hsn.2_Missense_Mutation_p.W4931C	p.W4931C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			55	14837	+		Prostate(94;0.0405)	4931			Ig-like 48.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.14793G>C	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038452	0.75617	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.97	5.34	5.34	0.76211	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.99111	0.9694	H	0.99286	4.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98931	1.0787	10	0.87932	D	0	.	19.0433	0.93010	0.0:0.0:1.0:0.0	.	4931;4931	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	C	4931;4931;2565;2050	ENSP00000284548:W4931C;ENSP00000409493:W4931C;ENSP00000355668:W2565C;ENSP00000355670:W2050C	ENSP00000284548:W4931C	W	+	3	0	OBSCN	226575958	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	9.317000	0.96327	2.510000	0.84645	0.655000	0.94253	TGG		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		19	56	0	0	0	0.006122	0	19	56				
ACTA1	58	broad.mit.edu	37	1	229568343	229568343	+	Silent	SNP	G	G	T	rs121909526		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:229568343G>T	ENST00000366684.3	-	3	516	c.414C>A	c.(412-414)atC>atA	p.I138I	ACTA1_ENST00000366683.2_Intron	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	138			I -> M (in NEM3; autosomal recessive). {ECO:0000269|PubMed:11333380, ECO:0000269|PubMed:15198992}.		cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)	p.I138I(3)		endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				GCACGGCCTGGATGGCCACGT	0.706																																							uc001htm.2		NA																	3	Substitution - coding silent(3)		lung(3)		0	GRCh37	CM012323	ACTA1	M	rs121909526	c.(412-414)ATC>ATA		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						56.0	57.0	56.0					1																	229568343		2202	4299	6501	SO:0001819	synonymous_variant	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229568343G>T	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.414C>A	1.37:g.229568343G>T							p.I138I	NM_001100	NP_001091	P68133	ACTS_HUMAN			3	519	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	138		I -> M (in NEM3; autosomal recessive).			P02568|P99020|Q5T8M9	Silent	SNP	ENST00000366684.3	37	c.414C>A	CCDS1578.1																																																																																				0.706	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		54	81	1	0	7.50695e-29	0.00361	1.38212e-28	54	81				
NID1	4811	broad.mit.edu	37	1	236192920	236192920	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:236192920C>A	ENST00000264187.6	-	7	1750	c.1668G>T	c.(1666-1668)gtG>gtT	p.V556V	NID1_ENST00000366595.3_Silent_p.V556V	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	556	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.V556V(2)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GAATCTGCGGCACGCGGCCCT	0.642																																							uc001hxo.2		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|pancreas(1)	2						c.(1666-1668)GTG>GTT		nidogen 1 precursor	Becaplermin(DB00102)|Urokinase(DB00013)						47.0	33.0	37.0					1																	236192920		2202	4300	6502	SO:0001819	synonymous_variant	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236192920C>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1668G>T	1.37:g.236192920C>A						NID1_uc009xgd.2_Silent_p.V556V	p.V556V	NM_002508	NP_002499	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		7	1770	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	556			Nidogen G2 beta-barrel.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	37	c.1668G>T	CCDS1608.1																																																																																				0.642	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		7	19	1	0	3.86212e-05	0.008291	4.16897e-05	7	19				
ACTN2	88	broad.mit.edu	37	1	236907995	236907995	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:236907995G>T	ENST00000366578.4	+	12	1491	c.1325G>T	c.(1324-1326)cGg>cTg	p.R442L	ACTN2_ENST00000542672.1_Missense_Mutation_p.R442L|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_5'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	442					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.R442L(2)		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)			GCTCTGCTGCGGAAGCACGAG	0.592																																							uc001hyf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(1324-1326)CGG>CTG		actinin, alpha 2							61.0	53.0	55.0					1																	236907995		2203	4300	6503	SO:0001583	missense	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.chr1:236907995G>T	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.1325G>T	1.37:g.236907995G>T	ENSP00000355537:p.Arg442Leu					ACTN2_uc001hyg.2_Missense_Mutation_p.R234L|ACTN2_uc009xgi.1_Missense_Mutation_p.R442L|ACTN2_uc010pxu.1_Missense_Mutation_p.R131L|ACTN2_uc001hyh.2_Missense_Mutation_p.R130L	p.R442L	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		12	1529	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	442			Spectrin 2.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.1325G>T	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	34	5.305644	0.95601	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	T;T	0.52526	0.66;0.66	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.72614	0.3482	M	0.84326	2.69	0.80722	D	1	D;P;D;D	0.69078	0.996;0.578;0.997;0.99	D;B;D;D	0.75484	0.986;0.24;0.967;0.977	T	0.77180	-0.2682	10	0.87932	D	0	.	19.0257	0.92931	0.0:0.0:1.0:0.0	.	227;442;212;442	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	L	442;442;211	ENSP00000443495:R442L;ENSP00000355537:R442L	ENSP00000355537:R442L	R	+	2	0	ACTN2	234974618	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	6.748000	0.74877	2.546000	0.85860	0.563000	0.77884	CGG		0.592	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		19	76	1	0	4.63292e-17	0.008871	7.15832e-17	19	76				
ZP4	57829	broad.mit.edu	37	1	238053457	238053457	+	Missense_Mutation	SNP	G	G	T	rs527859514		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:238053457G>T	ENST00000366570.4	-	2	353	c.195C>A	c.(193-195)caC>caA	p.H65Q	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	65					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.H65Q(2)		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)			TCTGCAGCTCGTGCAGCAGCC	0.552																																					NSCLC(166;160 2029 11600 18754 19936)	NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(193-195)CAC>CAA		zona pellucida glycoprotein 4 preproprotein							78.0	73.0	75.0					1																	238053457		2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238053457G>T	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.195C>A	1.37:g.238053457G>T	ENSP00000355529:p.His65Gln					LOC100130331_uc010pyc.1_Intron	p.H65Q	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		2	195	-	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)	65			Extracellular (Potential).		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.195C>A	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163491	0.38217	.	.	ENSG00000116996	ENST00000366570	T	0.76316	-1.01	5.07	5.07	0.68467	.	0.719105	0.12634	N	0.451926	D	0.87083	0.6089	M	0.81497	2.545	0.09310	N	1	D	0.64830	0.994	P	0.60609	0.877	T	0.79142	-0.1925	10	0.62326	D	0.03	-4.3002	13.9409	0.64054	0.0:0.0:1.0:0.0	.	65	Q12836	ZP4_HUMAN	Q	65	ENSP00000355529:H65Q	ENSP00000355529:H65Q	H	-	3	2	ZP4	236120080	0.794000	0.28838	0.015000	0.15790	0.013000	0.08279	1.332000	0.33805	2.349000	0.79799	0.655000	0.94253	CAC		0.552	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			47	135	1	0	8.86878e-18	0.00361	1.40052e-17	47	135				
FMN2	56776	broad.mit.edu	37	1	240255646	240255646	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:240255646G>T	ENST00000319653.9	+	1	467	c.237G>T	c.(235-237)cgG>cgT	p.R79R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	79					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.R222R(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)			CCAACCTGCGGATCAGGAAGA	0.662																																							uc010pyd.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(235-237)CGG>CGT		formin 2							15.0	18.0	17.0					1																	240255646		2202	4300	6502	SO:0001819	synonymous_variant	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.chr1:240255646G>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.237G>T	1.37:g.240255646G>T						FMN2_uc010pye.1_Silent_p.R79R	p.R79R	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	462	+	Ovarian(103;0.127)	all_cancers(173;0.013)	79					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.237G>T	CCDS31069.2																																																																																				0.662	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		10	42	1	0	4.3838e-07	0.001855	4.95615e-07	10	42				
NLRP3	114548	broad.mit.edu	37	1	247587961	247587961	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:247587961T>C	ENST00000336119.3	+	3	1962	c.1216T>C	c.(1216-1218)Ttc>Ctc	p.F406L	NLRP3_ENST00000391828.3_Missense_Mutation_p.F406L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.F406L|NLRP3_ENST00000366497.2_Missense_Mutation_p.F406L|NLRP3_ENST00000391827.2_Missense_Mutation_p.F406L|NLRP3_ENST00000348069.2_Missense_Mutation_p.F406L	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	406	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.F406L(2)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CGAGGTCCTCTTCACCATGTG	0.532																																							uc001icr.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(1216-1218)TTC>CTC		NLR family, pyrin domain containing 3 isoform a							102.0	79.0	87.0					1																	247587961		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247587961T>C	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1216T>C	1.37:g.247587961T>C	ENSP00000337383:p.Phe406Leu					NLRP3_uc001ics.2_Missense_Mutation_p.F406L|NLRP3_uc001icu.2_Missense_Mutation_p.F406L|NLRP3_uc001icw.2_Missense_Mutation_p.F406L|NLRP3_uc001icv.2_Missense_Mutation_p.F406L|NLRP3_uc010pyw.1_Missense_Mutation_p.F404L|NLRP3_uc001ict.1_Missense_Mutation_p.F404L	p.F406L	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	1354	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	406			NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1216T>C	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	T	13.89	2.371603	0.42003	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87;-1.87	4.17	3.02	0.34903	NACHT nucleoside triphosphatase (1);	0.117825	0.39341	N	0.001400	T	0.77903	0.4200	L	0.43701	1.375	0.34952	D	0.751375	B;B;B;B;B	0.23490	0.056;0.086;0.033;0.022;0.0	B;B;B;B;B	0.28849	0.038;0.095;0.072;0.026;0.002	T	0.76435	-0.2960	10	0.52906	T	0.07	.	5.4703	0.16666	0.0:0.1363:0.0:0.8637	.	406;406;406;406;406	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	L	406	ENSP00000375704:F406L;ENSP00000355453:F406L;ENSP00000337383:F406L;ENSP00000294752:F406L;ENSP00000355452:F406L;ENSP00000375703:F406L	ENSP00000337383:F406L	F	+	1	0	NLRP3	245654584	0.387000	0.25188	0.990000	0.47175	0.967000	0.64934	2.285000	0.43487	0.929000	0.37192	0.533000	0.62120	TTC		0.532	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		27	133	0	0	0	0.004656	0	27	133				
OR13G1	441933	broad.mit.edu	37	1	247835510	247835510	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:247835510C>A	ENST00000359688.2	-	1	855	c.834G>T	c.(832-834)gtG>gtT	p.V278V	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V278V(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATGTGGGAGTCACAAGAGTAT	0.438																																							uc001idi.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(832-834)GTG>GTT		olfactory receptor, family 13, subfamily G,							115.0	117.0	117.0					1																	247835510		2203	4300	6503	SO:0001819	synonymous_variant	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247835510C>A	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.834G>T	1.37:g.247835510C>A							p.V278V	NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	834	-	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)		278			Helical; Name=7; (Potential).		B2RN80|Q5T2T2|Q6IF86	Silent	SNP	ENST00000359688.2	37	c.834G>T	CCDS31094.1																																																																																				0.438	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		60	112	1	0	1.1362e-29	0.00361	2.12162e-29	60	112				
TRIM58	25893	broad.mit.edu	37	1	248028078	248028078	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:248028078G>A	ENST00000366481.3	+	3	636	c.588G>A	c.(586-588)gaG>gaA	p.E196E		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	196						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.E196E(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	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)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGCCCAGGAGGAGCAACGGC	0.612																																							uc001ido.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7						c.(586-588)GAG>GAA		tripartite motif-containing 58							59.0	49.0	53.0					1																	248028078		2203	4300	6503	SO:0001819	synonymous_variant	25893					intracellular	zinc ion binding	g.chr1:248028078G>A	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.588G>A	1.37:g.248028078G>A							p.E196E	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	636	+	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)	all_cancers(173;0.0286)	196			Potential.		Q6B0H9	Silent	SNP	ENST00000366481.3	37	c.588G>A	CCDS1636.1																																																																																				0.612	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		5	64	0	0	0	0.004482	0	5	64				
OR2L8	391190	broad.mit.edu	37	1	248112202	248112202	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:248112202G>T	ENST00000357191.3	+	1	43	c.43G>T	c.(43-45)Ggg>Tgg	p.G15W	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G15W(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CATCTTATTGGGGCTGTTTCC	0.368																																							uc001idt.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(43-45)GGG>TGG		olfactory receptor, family 2, subfamily L,							168.0	155.0	159.0					1																	248112202		2203	4300	6503	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112202G>T	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.43G>T	1.37:g.248112202G>T	ENSP00000349719:p.Gly15Trp					OR2L13_uc001ids.2_Intron	p.G15W	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	43	+	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)		15			Extracellular (Potential).		Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.43G>T	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.707615	0.48412	.	.	ENSG00000196936	ENST00000357191	T	0.00662	5.93	1.48	1.48	0.22813	.	.	.	.	.	T	0.06416	0.0165	H	0.95328	3.655	0.23282	N	0.997982	D	0.89917	1.0	D	0.97110	1.0	T	0.04767	-1.0928	9	0.87932	D	0	.	9.7152	0.40270	0.0:0.0:1.0:0.0	.	15	Q8NGY9	OR2L8_HUMAN	W	15	ENSP00000349719:G15W	ENSP00000349719:G15W	G	+	1	0	OR2L8	246178825	1.000000	0.71417	0.019000	0.16419	0.284000	0.27059	4.458000	0.60095	0.803000	0.34113	0.298000	0.19748	GGG		0.368	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			55	167	1	0	5.73376e-24	0.00361	9.97395e-24	55	167				
OR14I1	401994	broad.mit.edu	37	1	248844970	248844970	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:248844970C>A	ENST00000342623.3	-	1	659	c.636G>T	c.(634-636)atG>atT	p.M212I		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M212I(2)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						AGGAGATCATCATGAGAATAA	0.493																																							uc001ieu.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(634-636)ATG>ATT		olfactory receptor, family 14, subfamily I,							78.0	84.0	82.0					1																	248844970		2203	4300	6503	SO:0001583	missense	401994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248844970C>A		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.636G>T	1.37:g.248844970C>A	ENSP00000339726:p.Met212Ile						p.M212I	NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN			1	636	-			212			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000342623.3	37	c.636G>T	CCDS31125.1	.	.	.	.	.	.	.	.	.	.	.	1.020	-0.685056	0.03328	.	.	ENSG00000189181	ENST00000342623	T	0.00010	9.43	3.34	-6.68	0.01778	GPCR, rhodopsin-like superfamily (1);	0.225948	0.30602	N	0.009280	T	0.00012	0.0000	N	0.00036	-2.54	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.51028	-0.8757	10	0.02654	T	1	.	2.7495	0.05277	0.3851:0.1635:0.3527:0.0988	.	212	A6ND48	O14I1_HUMAN	I	212	ENSP00000339726:M212I	ENSP00000339726:M212I	M	-	3	0	OR14I1	246911593	0.000000	0.05858	0.000000	0.03702	0.400000	0.30750	-5.754000	0.00100	-1.280000	0.02402	0.543000	0.68304	ATG		0.493	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		49	95	1	0	4.10826e-27	0.00361	7.44209e-27	49	95				
OR14I1	401994	broad.mit.edu	37	1	248845065	248845065	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:248845065G>A	ENST00000342623.3	-	1	564	c.541C>T	c.(541-543)Cat>Tat	p.H181Y		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H181Y(2)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GCCAACACATGAGGGATGTCA	0.502																																							uc001ieu.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(541-543)CAT>TAT		olfactory receptor, family 14, subfamily I,							89.0	91.0	90.0					1																	248845065		2203	4300	6503	SO:0001583	missense	401994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248845065G>A		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.541C>T	1.37:g.248845065G>A	ENSP00000339726:p.His181Tyr						p.H181Y	NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN			1	541	-			181			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000342623.3	37	c.541C>T	CCDS31125.1	.	.	.	.	.	.	.	.	.	.	.	18.07	3.540849	0.65085	.	.	ENSG00000189181	ENST00000342623	T	0.00123	8.7	2.95	2.95	0.34219	GPCR, rhodopsin-like superfamily (1);	0.136255	0.32244	N	0.006380	T	0.00356	0.0011	M	0.62723	1.935	0.09310	N	1	D	0.65815	0.995	D	0.66351	0.943	T	0.50311	-0.8843	10	0.62326	D	0.03	.	11.6362	0.51204	0.0:0.0:1.0:0.0	.	181	A6ND48	O14I1_HUMAN	Y	181	ENSP00000339726:H181Y	ENSP00000339726:H181Y	H	-	1	0	OR14I1	246911688	0.000000	0.05858	0.038000	0.18304	0.957000	0.61999	0.592000	0.23984	1.611000	0.50210	0.543000	0.68304	CAT		0.502	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		7	98	0	0	0	0.001984	0	7	98				
RBM17	84991	broad.mit.edu	37	10	6157491	6157491	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:6157491G>C	ENST00000446108.1	+	12	1822	c.1178G>C	c.(1177-1179)aGg>aCg	p.R393T	RBM17_ENST00000476706.1_3'UTR|RBM17_ENST00000379888.4_Missense_Mutation_p.R393T	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	393					alternative mRNA splicing, via spliceosome (GO:0000380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R393T(2)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						GACAAATTCAGGGTCTTGGAT	0.408																																							uc001ijb.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1177-1179)AGG>ACG		RNA binding motif protein 17							167.0	164.0	165.0					10																	6157491		2203	4300	6503	SO:0001583	missense	84991				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr10:6157491G>C	AF083384	CCDS7077.1	10p15.1	2013-01-28			ENSG00000134453	ENSG00000134453		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	16944	protein-coding gene	gene with protein product	"""splicing factor 45kDa"""	606935				9731529	Standard	NM_032905		Approved	SPF45, MGC14439	uc001ijb.3	Q96I25	OTTHUMG00000017618	ENST00000446108.1:c.1178G>C	10.37:g.6157491G>C	ENSP00000388638:p.Arg393Thr					RBM17_uc010qav.1_Missense_Mutation_p.R393T|RBM17_uc001ijc.2_RNA	p.R393T	NM_032905	NP_116294	Q96I25	SPF45_HUMAN			12	1404	+			393					Q96GY6	Missense_Mutation	SNP	ENST00000446108.1	37	c.1178G>C	CCDS7077.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528739	0.64860	.	.	ENSG00000134453	ENST00000379888;ENST00000446108	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.58337	0.2115	M	0.77486	2.375	0.80722	D	1	P	0.41748	0.761	B	0.33295	0.161	T	0.66304	-0.5957	9	0.45353	T	0.12	-18.7954	18.8842	0.92368	0.0:0.0:1.0:0.0	.	393	Q96I25	SPF45_HUMAN	T	393	.	ENSP00000369218:R393T	R	+	2	0	RBM17	6197497	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.967000	0.93402	2.518000	0.84900	0.655000	0.94253	AGG		0.408	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046635.1	NM_032905		38	167	0	0	0	0.005524	0	38	167				
GATA3	2625	broad.mit.edu	37	10	8105983	8105983	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:8105983C>A	ENST00000346208.3	+	4	1258	c.803C>A	c.(802-804)gCa>gAa	p.A268E	GATA3_ENST00000461472.1_Intron|GATA3_ENST00000379328.3_Missense_Mutation_p.A269E			P23771	GATA3_HUMAN	GATA binding protein 3	268					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|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 of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.A269E(2)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AACTGTGGGGCAACCTCGACC	0.552			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																																uc001ika.2		NA		Rec	yes		10	10p15	2625	F|N|S	GATA binding protein 3	yes	HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)	E			breast		2	Substitution - Missense(2)		lung(2)	breast(17)|ovary(3)|central_nervous_system(2)	22						c.(802-804)GCA>GAA		GATA binding protein 3 isoform 2							169.0	120.0	137.0					10																	8105983		2203	4300	6503	SO:0001583	missense	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8105983C>A	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.803C>A	10.37:g.8105983C>A	ENSP00000341619:p.Ala268Glu					GATA3_uc001ijz.2_Missense_Mutation_p.A269E	p.A268E	NM_002051	NP_002042	P23771	GATA3_HUMAN			4	1360	+			268			GATA-type 1.		Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	c.803C>A	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742888	0.89573	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.99519	-6.07;-6.07	5.39	5.39	0.77823	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (5);	0.000000	0.85682	D	0.000000	D	0.99375	0.9780	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	D	0.98850	1.0758	10	0.87932	D	0	-19.5702	15.5222	0.75874	0.1386:0.8614:0.0:0.0	.	268;269	P23771;P23771-2	GATA3_HUMAN;.	E	269;268	ENSP00000368632:A269E;ENSP00000341619:A268E	ENSP00000341619:A268E	A	+	2	0	GATA3	8145989	1.000000	0.71417	0.918000	0.36340	0.926000	0.56050	6.081000	0.71309	2.519000	0.84933	0.655000	0.94253	GCA		0.552	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		30	121	1	0	2.81731e-10	0.002096	3.54074e-10	30	121				
ITGA8	8516	broad.mit.edu	37	10	15628598	15628598	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:15628598T>A	ENST00000378076.3	-	23	2710	c.2357A>T	c.(2356-2358)cAg>cTg	p.Q786L		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	786					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|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)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)	p.Q786L(2)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TATTTCCACCTGCGCTACAGC	0.368																																							uc001ioc.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(3)	6						c.(2356-2358)CAG>CTG		integrin, alpha 8 precursor							145.0	126.0	133.0					10																	15628598		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15628598T>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2357A>T	10.37:g.15628598T>A	ENSP00000367316:p.Gln786Leu					ITGA8_uc010qcb.1_Missense_Mutation_p.Q771L	p.Q786L	NM_003638	NP_003629	P53708	ITA8_HUMAN			23	2357	-			786			Extracellular (Potential).		B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.2357A>T	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	T	15.70	2.910881	0.52439	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.47177	0.85	5.32	5.32	0.75619	Integrin alpha-2 (1);	0.205916	0.52532	D	0.000079	T	0.61714	0.2369	M	0.75777	2.31	0.48341	D	0.999638	D;D	0.57571	0.975;0.98	P;P	0.57244	0.72;0.816	T	0.60136	-0.7322	10	0.22706	T	0.39	.	14.4031	0.67063	0.0:0.0:0.0:1.0	.	771;786	F5H818;P53708	.;ITA8_HUMAN	L	786;771	ENSP00000367316:Q786L	ENSP00000367316:Q786L	Q	-	2	0	ITGA8	15668604	1.000000	0.71417	0.996000	0.52242	0.371000	0.29859	4.898000	0.63238	2.131000	0.65755	0.528000	0.53228	CAG		0.368	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		14	54	0	0	0	0.006122	0	14	54				
ARHGAP21	57584	broad.mit.edu	37	10	24889599	24889599	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:24889599C>A	ENST00000396432.2	-	14	3594	c.3108G>T	c.(3106-3108)caG>caT	p.Q1036H	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.Q823H|ARHGAP21_ENST00000493154.1_5'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1035	Interaction with ARF1 and ARF6.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.Q1035H(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGCTGCTCTCCTGGATCGTCT	0.443																																							uc001isb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|pancreas(1)	8						c.(3106-3108)CAG>CAT		Rho GTPase activating protein 21							134.0	128.0	130.0					10																	24889599		2203	4300	6503	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24889599C>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3108G>T	10.37:g.24889599C>A	ENSP00000379709:p.Gln1036His					ARHGAP21_uc010qdb.1_RNA|ARHGAP21_uc009xkl.1_Missense_Mutation_p.Q1036H|ARHGAP21_uc010qdc.1_Missense_Mutation_p.Q871H	p.Q1036H	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN			14	3595	-			1035			Interaction with ARF1 and ARF6.|PH.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.3108G>T	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086796	0.76642	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	6.02	6.02	0.97574	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.83871	0.5348	L	0.51853	1.615	0.54753	D	0.999986	P;D	0.89917	0.718;1.0	P;D	0.91635	0.776;0.999	D	0.83939	0.0310	10	0.62326	D	0.03	.	11.429	0.50029	0.0:0.8929:0.0:0.1071	.	1026;1035	F8W9U9;Q5T5U3	.;RHG21_HUMAN	H	1036;823;1026;1036;871	ENSP00000379709:Q1036H;ENSP00000365604:Q823H;ENSP00000365592:Q1026H;ENSP00000405018:Q1036H	ENSP00000365604:Q823H	Q	-	3	2	ARHGAP21	24929605	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	2.461000	0.45040	2.865000	0.98341	0.655000	0.94253	CAG		0.443	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		25	131	1	0	1.66031e-10	0.003954	2.1136e-10	25	131				
ALOX5	240	broad.mit.edu	37	10	45938974	45938974	+	Missense_Mutation	SNP	G	G	A	rs368826060		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:45938974G>A	ENST00000374391.2	+	11	1615	c.1562G>A	c.(1561-1563)cGc>cAc	p.R521H	ALOX5_ENST00000542434.1_Missense_Mutation_p.R521H|RP11-67C2.2_ENST00000435635.1_RNA	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	521	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)	p.R521H(1)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	ATGCGGGGCCGCAAGTCCTCA	0.692																																							uc001jce.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1561-1563)CGC>CAC		arachidonate 5-lipoxygenase	Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)						48.0	46.0	47.0					10																	45938974		2203	4300	6503	SO:0001583	missense	240				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr10:45938974G>A	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.1562G>A	10.37:g.45938974G>A	ENSP00000363512:p.Arg521His					ALOX5_uc009xmt.2_Missense_Mutation_p.R489H|ALOX5_uc010qfg.1_Missense_Mutation_p.R521H	p.R521H	NM_000698	NP_000689	P09917	LOX5_HUMAN			11	1661	+		Lung SC(717;0.0257)	521			Lipoxygenase.		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	ENST00000374391.2	37	c.1562G>A	CCDS7212.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.076380	0.36662	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	T;T	0.77489	-1.1;-1.1	5.26	-7.75	0.01236	Lipoxygenase, C-terminal (3);	1.243410	0.04886	N	0.448689	T	0.64394	0.2594	N	0.21508	0.67	0.09310	N	1	P;P;P	0.50819	0.939;0.641;0.778	B;B;B	0.42282	0.382;0.271;0.269	T	0.63585	-0.6604	10	0.32370	T	0.25	-2.3428	14.9821	0.71319	0.6:0.0:0.4:0.0	.	521;489;521	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	H	521	ENSP00000437634:R521H;ENSP00000363512:R521H	ENSP00000363512:R521H	R	+	2	0	ALOX5	45258980	0.000000	0.05858	0.091000	0.20842	0.967000	0.64934	-0.786000	0.04623	-1.659000	0.01488	-0.140000	0.14226	CGC		0.692	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			4	32	0	0	0	0.009096	0	4	32				
NPY4R	5540	broad.mit.edu	37	10	47087824	47087824	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:47087824G>A	ENST00000395716.1	+	2	1126	c.1041G>A	c.(1039-1041)gaG>gaA	p.E347E	NPY4R_ENST00000374312.1_Silent_p.E347E			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	347					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)	p.E347E(2)									CCCCCCTGGAGGAGTCGGAGC	0.557																																							uc001jee.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(1039-1041)GAG>GAA		pancreatic polypeptide receptor 1							120.0	121.0	121.0					10																	47087824		2203	4300	6503	SO:0001819	synonymous_variant	5540				blood circulation|digestion|feeding behavior	integral to plasma membrane		g.chr10:47087824G>A		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.1041G>A	10.37:g.47087824G>A						ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Silent_p.E347E	p.E347E	NM_005972	NP_005963	P50391	NPY4R_HUMAN			3	1460	+			347			Cytoplasmic (Potential).		Q13456|Q5ISU3|Q5T2X9|Q6FH06	Silent	SNP	ENST00000395716.1	37	c.1041G>A	CCDS31193.1																																																																																				0.557	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			21	147	0	0	0	0.010504	0	21	147				
ASAH2	56624	broad.mit.edu	37	10	51978271	51978271	+	Splice_Site	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:51978271T>A	ENST00000395526.4	-	7	1012	c.1013A>T	c.(1012-1014)cAg>cTg	p.Q338L	ASAH2_ENST00000447815.1_Splice_Site_p.Q338L|ASAH2_ENST00000329428.6_Splice_Site_p.Q319L|ASAH2_ENST00000443575.1_Splice_Site_p.Q180L	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	338					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ceramidase activity (GO:0017040)	p.Q338L(1)|p.Q319L(1)		large_intestine(1)|lung(9)|urinary_tract(1)	11						AATTCTCACCTGTCCAGGTAG	0.393																																							uc001jjd.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1012-1014)CAG>CTG		N-acylsphingosine amidohydrolase 2 isoform a							27.0	20.0	25.0					10																	51978271		1946	1109	3055	SO:0001630	splice_region_variant	56624				apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity	g.chr10:51978271T>A	AF250847	CCDS7239.2, CCDS44398.1	10q11.23	2008-08-11			ENSG00000188611	ENSG00000188611			18860	protein-coding gene	gene with protein product		611202				10781606	Standard	NM_019893		Approved		uc001jjd.3	Q9NR71	OTTHUMG00000018223	ENST00000395526.4:c.1014+1A>T	10.37:g.51978271T>A						ASAH2_uc009xos.2_Missense_Mutation_p.Q338L	p.Q338L	NM_019893	NP_063946	Q9NR71	ASAH2_HUMAN			7	1013	-			338			Lumenal (Potential).		Q3KNU1|Q5SNT7|Q5SZP6|Q5SZP7|Q5T1D5|Q71ME6	Missense_Mutation	SNP	ENST00000395526.4	37	c.1013A>T	CCDS7239.2	.	.	.	.	.	.	.	.	.	.	T	15.24	2.774343	0.49786	.	.	ENSG00000188611	ENST00000395526;ENST00000447815;ENST00000443575;ENST00000329428	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.94	4.94	0.65067	.	0.468230	0.22296	N	0.061937	T	0.50684	0.1630	M	0.79693	2.465	0.42819	D	0.993983	P;B	0.36282	0.546;0.316	B;B	0.41946	0.371;0.307	T	0.53394	-0.8445	10	0.37606	T	0.19	.	12.5483	0.56212	0.0:0.0:0.0:1.0	.	338;338	Q9NR71-2;Q9NR71	.;ASAH2_HUMAN	L	338;338;180;319	ENSP00000378897:Q338L;ENSP00000388206:Q338L;ENSP00000392766:Q180L;ENSP00000329886:Q319L	ENSP00000329886:Q319L	Q	-	2	0	ASAH2	51648277	1.000000	0.71417	0.964000	0.40570	0.606000	0.37113	7.911000	0.87458	1.837000	0.53436	0.374000	0.22700	CAG		0.393	ASAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048061.3	NM_019893	Missense_Mutation	30	31	0	0	0	0.00361	0	30	31				
EGR2	1959	broad.mit.edu	37	10	64575716	64575716	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:64575716A>G	ENST00000242480.3	-	1	399	c.74T>C	c.(73-75)aTc>aCc	p.I25T	EGR2_ENST00000493899.2_5'UTR|EGR2_ENST00000411732.1_5'UTR|EGR2_ENST00000439032.1_Missense_Mutation_p.I25T	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	25					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.I25T(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CACCGGGTAGATGTTGTCAGA	0.572																																							uc010qim.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(73-75)ATC>ACC		early growth response 2 protein isoform a							193.0	175.0	181.0					10																	64575716		2203	4300	6503	SO:0001583	missense	1959				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr10:64575716A>G	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.74T>C	10.37:g.64575716A>G	ENSP00000242480:p.Ile25Thr					EGR2_uc010qin.1_5'UTR|EGR2_uc001jmi.2_Missense_Mutation_p.I25T|EGR2_uc010qio.1_Missense_Mutation_p.I38T|EGR2_uc009xph.2_Missense_Mutation_p.I25T	p.I25T	NM_001136177	NP_001129649	P11161	EGR2_HUMAN			2	228	-	Prostate(12;0.0297)|all_hematologic(501;0.228)		25					B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Missense_Mutation	SNP	ENST00000242480.3	37	c.74T>C	CCDS7267.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.903696	0.52333	.	.	ENSG00000122877	ENST00000242480;ENST00000439032;ENST00000432380	T;T	0.14266	2.52;2.52	5.1	5.1	0.69264	.	0.136574	0.49916	D	0.000122	T	0.14442	0.0349	L	0.43152	1.355	0.80722	D	1	B	0.23058	0.079	B	0.20955	0.032	T	0.02491	-1.1151	10	0.59425	D	0.04	-13.94	14.2068	0.65739	1.0:0.0:0.0:0.0	.	25	P11161	EGR2_HUMAN	T	25;25;38	ENSP00000242480:I25T;ENSP00000402040:I25T	ENSP00000242480:I25T	I	-	2	0	EGR2	64245722	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.182000	0.89698	2.061000	0.61500	0.454000	0.30748	ATC		0.572	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399		74	140	0	0	0	0.00361	0	74	140				
POLR3A	11128	broad.mit.edu	37	10	79784770	79784770	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:79784770C>A	ENST00000372371.3	-	4	586	c.449G>T	c.(448-450)tGc>tTc	p.C150F		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	150					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|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)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)	p.C150F(2)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TTTCTTCCGGCACTTGTCAGA	0.468																																							uc001jzn.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(448-450)TGC>TTC		polymerase (RNA) III (DNA directed) polypeptide							136.0	126.0	129.0					10																	79784770		2203	4300	6503	SO:0001583	missense	11128				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	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79784770C>A	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.449G>T	10.37:g.79784770C>A	ENSP00000361446:p.Cys150Phe						p.C150F	NM_007055	NP_008986	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		4	543	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		150					Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	c.449G>T	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	c	22.4	4.290336	0.80914	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.25414	1.8	5.63	5.63	0.86233	RNA polymerase Rpb1, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.63827	0.2544	H	0.94886	3.595	0.80722	D	1	D	0.71674	0.998	D	0.65773	0.938	T	0.74699	-0.3577	9	.	.	.	-19.4673	19.7052	0.96069	0.0:1.0:0.0:0.0	.	150	O14802	RPC1_HUMAN	F	150	ENSP00000361446:C150F	.	C	-	2	0	POLR3A	79454776	1.000000	0.71417	0.998000	0.56505	0.807000	0.45602	7.478000	0.81082	2.656000	0.90262	0.550000	0.68814	TGC		0.468	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		43	76	1	0	7.53189e-24	0.007835	1.30442e-23	43	76				
PAX2	5076	broad.mit.edu	37	10	102509514	102509514	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:102509514G>A	ENST00000428433.1	+	2	605	c.55G>A	c.(55-57)Ggt>Agt	p.G19S	PAX2_ENST00000556085.1_Missense_Mutation_p.G18S|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000355243.3_Missense_Mutation_p.G19S|PAX2_ENST00000370296.2_Missense_Mutation_p.G19S|PAX2_ENST00000361791.3_Missense_Mutation_p.G19S	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	19	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)	p.G19S(4)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		AGGGCACGGGGGTGTGAACCA	0.672																																							uc001krk.3		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(55-57)GGT>AGT		paired box protein 2 isoform e							30.0	35.0	33.0					10																	102509514		2196	4292	6488	SO:0001583	missense	5076				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	g.chr10:102509514G>A		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.55G>A	10.37:g.102509514G>A	ENSP00000396259:p.Gly19Ser					PAX2_uc001krl.3_Missense_Mutation_p.G19S|PAX2_uc001krm.3_Missense_Mutation_p.G19S|PAX2_uc001kro.3_Missense_Mutation_p.G19S|PAX2_uc001krn.3_Missense_Mutation_p.G19S|PAX2_uc010qps.1_Missense_Mutation_p.G18S|PAX2_uc001krp.1_Missense_Mutation_p.G23S	p.G19S	NM_003990	NP_003981	Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	2	605	+		Colorectal(252;0.234)	19			Paired.		Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Missense_Mutation	SNP	ENST00000428433.1	37	c.55G>A	CCDS53569.1	.	.	.	.	.	.	.	.	.	.	G	37	6.076059	0.97262	.	.	ENSG00000075891	ENST00000370296;ENST00000428433;ENST00000361791;ENST00000355243;ENST00000556085;ENST00000427256;ENST00000554172	D;D;D;D;D;D;D	0.99338	-5.76;-5.76;-5.76;-5.76;-5.76;-5.76;-5.76	6.17	6.17	0.99709	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99507	0.9824	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.996;0.997;1.0;1.0;0.999;0.999	D	0.99023	1.0818	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	18;19;19;23;19;19;23	G3V5U4;Q02962-2;Q02962-3;Q6YFJ8;Q02962;Q02962-4;G3V5S4	.;.;.;.;PAX2_HUMAN;.;.	S	19;19;19;19;18;19;23	ENSP00000359319:G19S;ENSP00000396259:G19S;ENSP00000355069:G19S;ENSP00000347385:G19S;ENSP00000452527:G18S;ENSP00000398652:G19S;ENSP00000452489:G23S	ENSP00000347385:G19S	G	+	1	0	PAX2	102499504	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.011000	0.88624	2.941000	0.99782	0.655000	0.94253	GGT		0.672	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				22	48	0	0	0	0.00333	0	22	48				
BTRC	8945	broad.mit.edu	37	10	103291028	103291028	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:103291028G>T	ENST00000370187.3	+	7	896	c.778G>T	c.(778-780)Ggg>Tgg	p.G260W	BTRC_ENST00000408038.2_Missense_Mutation_p.G224W|BTRC_ENST00000393441.4_Missense_Mutation_p.G219W	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	260					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G260W(3)		endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		ACCTCCTGACGGGAATGCTCC	0.313																																							uc001kta.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(778-780)GGG>TGG		beta-transducin repeat containing protein							96.0	108.0	104.0					10																	103291028		2203	4300	6503	SO:0001583	missense	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103291028G>T	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.778G>T	10.37:g.103291028G>T	ENSP00000359206:p.Gly260Trp					BTRC_uc001ktb.2_Missense_Mutation_p.G224W|BTRC_uc001ktc.2_Missense_Mutation_p.G234W	p.G260W	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	7	891	+		Colorectal(252;0.234)	260					B5MD49|Q5W141|Q5W142|Q9Y213	Missense_Mutation	SNP	ENST00000370187.3	37	c.778G>T	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.080364	0.55753	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038	T;T;T	0.22336	1.96;1.96;1.96	5.44	5.44	0.79542	F-box domain, Skp2-like (1);	0.071942	0.56097	D	0.000021	T	0.28566	0.0707	L	0.34521	1.04	0.53688	D	0.999979	P;B;P	0.47604	0.687;0.413;0.898	B;B;P	0.49853	0.256;0.149;0.624	T	0.01363	-1.1374	10	0.62326	D	0.03	-6.4172	19.2602	0.93964	0.0:0.0:1.0:0.0	.	234;224;260	B7Z3H4;Q9Y297-2;Q9Y297	.;.;FBW1A_HUMAN	W	260;219;224	ENSP00000359206:G260W;ENSP00000377088:G219W;ENSP00000385339:G224W	ENSP00000359206:G260W	G	+	1	0	BTRC	103281018	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	5.853000	0.69496	2.552000	0.86080	0.484000	0.47621	GGG		0.313	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		32	121	1	0	2.32173e-10	0.004878	2.93664e-10	32	121				
SORCS3	22986	broad.mit.edu	37	10	106960961	106960961	+	Silent	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:106960961A>G	ENST00000369701.3	+	16	2438	c.2211A>G	c.(2209-2211)tcA>tcG	p.S737S	SORCS3_ENST00000369699.4_Silent_p.S23S	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	737					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.S737S(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GAGACCACTCAGGATCAGTGG	0.493																																					NSCLC(116;1497 1690 7108 13108 14106)	NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(2209-2211)TCA>TCG		VPS10 domain receptor protein SORCS 3 precursor							129.0	113.0	119.0					10																	106960961		2203	4300	6503	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106960961A>G	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2211A>G	10.37:g.106960961A>G						SORCS3_uc010qqz.1_RNA	p.S737S	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	16	2438	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	737			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.2211A>G	CCDS7558.1																																																																																				0.493	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		53	114	0	0	0	0.00361	0	53	114				
ATRNL1	26033	broad.mit.edu	37	10	116930936	116930936	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:116930936G>A	ENST00000355044.3	+	8	1360	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K	ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Nonsense_Mutation_p.W382*	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	412					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.E412K(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GTATGCTGTGGAGGGACATTC	0.373																																							uc001lcg.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)	7						c.(1234-1236)GAG>AAG		attractin-like 1 precursor							202.0	189.0	193.0					10																	116930936		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:116930936G>A	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1234G>A	10.37:g.116930936G>A	ENSP00000347152:p.Glu412Lys					ATRNL1_uc001lce.2_RNA|ATRNL1_uc001lcf.2_Missense_Mutation_p.E412K|ATRNL1_uc009xyq.2_Nonsense_Mutation_p.W382*	p.E412K	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	8	1620	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	412			Kelch 2.|Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.1234G>A	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621448	0.87460	.	.	ENSG00000107518	ENST00000355044	T	0.13901	2.55	5.87	4.97	0.65823	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.32010	0.0815	L	0.59436	1.845	0.80722	D	1	D;B	0.69078	0.997;0.054	D;B	0.73380	0.98;0.043	T	0.02156	-1.1204	10	0.30078	T	0.28	-19.4565	14.848	0.70275	0.0687:0.0:0.9313:0.0	.	412;412	Q5VV63;Q5VV63-2	ATRN1_HUMAN;.	K	412	ENSP00000347152:E412K	ENSP00000347152:E412K	E	+	1	0	ATRNL1	116920926	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.000000	0.93564	1.484000	0.48361	0.650000	0.86243	GAG		0.373	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		48	104	0	0	0	0.00361	0	48	104				
VAX1	11023	broad.mit.edu	37	10	118896117	118896117	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:118896117G>A	ENST00000369206.5	-	2	294	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	VAX1_ENST00000277905.2_Missense_Mutation_p.R99W	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	99					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R99W(4)		endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CTCTTAGGCCGGTCCAAGTCC	0.657																																							uc009xyx.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(295-297)CGG>TGG		ventral anterior homeobox 1 isoform a							53.0	47.0	49.0					10																	118896117		2203	4300	6503	SO:0001583	missense	11023					nucleus	sequence-specific DNA binding	g.chr10:118896117G>A	AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"""Homeoboxes / ANTP class : NKL subclass"""	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.295C>T	10.37:g.118896117G>A	ENSP00000358207:p.Arg99Trp					VAX1_uc001ldb.1_Missense_Mutation_p.R99W	p.R99W	NM_001112704	NP_001106175	Q5SQQ9	VAX1_HUMAN		all cancers(201;0.0108)	2	540	-			99					B1AVW5|Q6ZSX0	Missense_Mutation	SNP	ENST00000369206.5	37	c.295C>T	CCDS44483.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.116981	0.56505	.	.	ENSG00000148704	ENST00000277905;ENST00000369206	D;D	0.96073	-3.9;-3.9	3.9	1.9	0.25705	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.64402	D	0.000001	D	0.96228	0.8770	L	0.60455	1.87	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.79108	0.958;0.992	D	0.94889	0.8046	10	0.87932	D	0	-15.033	9.7636	0.40548	0.0:0.1531:0.6881:0.1588	.	99;99	Q5SQQ9;Q5SQQ9-2	VAX1_HUMAN;.	W	99	ENSP00000277905:R99W;ENSP00000358207:R99W	ENSP00000277905:R99W	R	-	1	2	VAX1	118886107	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.303000	0.78871	0.265000	0.21872	0.305000	0.20034	CGG		0.657	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	XM_301242		9	57	0	0	0	0.000978	0	9	57				
CPXM2	119587	broad.mit.edu	37	10	125528162	125528162	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:125528162C>A	ENST00000241305.3	-	9	1333	c.1179G>T	c.(1177-1179)gtG>gtT	p.V393V	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	393					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.V393V(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		ACACGAACTGCACCAGCAGCA	0.627																																							uc001lhk.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(1177-1179)GTG>GTT		carboxypeptidase X (M14 family), member 2							96.0	94.0	95.0					10																	125528162		2203	4300	6503	SO:0001819	synonymous_variant	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125528162C>A	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1179G>T	10.37:g.125528162C>A						CPXM2_uc001lhj.2_RNA	p.V393V	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	9	1504	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	393					B4E3Q2	Silent	SNP	ENST00000241305.3	37	c.1179G>T	CCDS7637.1																																																																																				0.627	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		43	120	1	0	2.24722e-20	0.00361	3.69689e-20	43	120				
STK32C	282974	broad.mit.edu	37	10	134040330	134040330	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:134040330C>A	ENST00000368622.1	-	4	643	c.262G>T	c.(262-264)Gac>Tac	p.D88Y	STK32C_ENST00000368625.4_Missense_Mutation_p.D218Y					serine/threonine kinase 32C									p.D205Y(2)|p.D218Y(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CGCAGGTAGTCCAGAGCCAGT	0.642																																							uc001lle.1		NA																	4	Substitution - Missense(4)		lung(4)	large_intestine(2)|lung(2)|breast(1)	5						c.(613-615)GAC>TAC		serine/threonine kinase 32C							121.0	90.0	101.0					10																	134040330		2203	4300	6503	SO:0001583	missense	282974						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr10:134040330C>A	AK057849	CCDS7666.1	10q26.3	2004-07-22			ENSG00000165752	ENSG00000165752			21332	protein-coding gene	gene with protein product							Standard	NM_173575		Approved	PKE, MGC23665, YANK3	uc001lle.1	Q86UX6	OTTHUMG00000019285	ENST00000368622.1:c.262G>T	10.37:g.134040330C>A	ENSP00000357611:p.Asp88Tyr					STK32C_uc001lld.1_Missense_Mutation_p.D88Y|STK32C_uc010quu.1_Missense_Mutation_p.D218Y|STK32C_uc009ybc.1_Missense_Mutation_p.D88Y|STK32C_uc009ybd.1_Missense_Mutation_p.D88Y|STK32C_uc001llb.2_5'UTR|STK32C_uc001llc.1_RNA	p.D205Y	NM_173575	NP_775846	Q86UX6	ST32C_HUMAN		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)	4	753	-		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)	205			Protein kinase.			Missense_Mutation	SNP	ENST00000368622.1	37	c.613G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	15.67|15.67	2.900737|2.900737	0.52227|0.52227	.|.	.|.	ENSG00000165752|ENSG00000165752	ENST00000368622;ENST00000298630;ENST00000368625|ENST00000368620	T;T;T|.	0.66460|.	-0.21;-0.21;-0.21|.	4.93|4.93	4.93|4.93	0.64822|0.64822	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|.	0.64402|.	D|.	0.000005|.	T|T	0.72684|0.72684	0.3491|0.3491	L|L	0.56199|0.56199	1.76|1.76	0.80722|0.80722	D|D	1|1	D;D;P|.	0.76494|.	0.998;0.999;0.915|.	D;D;D|.	0.79108|.	0.992;0.979;0.968|.	T|T	0.76096|0.76096	-0.3084|-0.3084	10|6	0.87932|0.87932	D|D	0|0	.|.	18.1817|18.1817	0.89780|0.89780	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	218;144;205|.	B7Z7J1;F2Z300;Q86UX6|.	.;.;ST32C_HUMAN|.	Y|V	88;205;218|275	ENSP00000357611:D88Y;ENSP00000298630:D205Y;ENSP00000357614:D218Y|.	ENSP00000298630:D205Y|ENSP00000357609:G275V	D|G	-|-	1|2	0|0	STK32C|STK32C	133890320|133890320	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.028000|0.028000	0.11728|0.11728	5.452000|5.452000	0.66638|0.66638	2.311000|2.311000	0.77944|0.77944	0.460000|0.460000	0.39030|0.39030	GAC|GGA		0.642	STK32C-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051068.2	NM_173575		20	60	1	0	7.45023e-12	0.010504	1.00699e-11	20	60				
LRRC56	115399	broad.mit.edu	37	11	552165	552165	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:552165G>T	ENST00000270115.7	+	12	1614	c.1114G>T	c.(1114-1116)Gac>Tac	p.D372Y		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	372								p.D372Y(1)		kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCAGAGCCTGACCCTGCAGA	0.662																																							uc010qvz.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1114-1116)GAC>TAC		leucine rich repeat containing 56							39.0	44.0	42.0					11																	552165		2200	4299	6499	SO:0001583	missense	115399							g.chr11:552165G>T		CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.1114G>T	11.37:g.552165G>T	ENSP00000270115:p.Asp372Tyr						p.D372Y	NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	12	1619	+		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	372					Q8N3Q4	Missense_Mutation	SNP	ENST00000270115.7	37	c.1114G>T	CCDS7700.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624411	0.66901	.	.	ENSG00000161328	ENST00000270115	T	0.13196	2.61	4.38	2.5	0.30297	.	1.058730	0.07412	N	0.892577	T	0.16214	0.0390	L	0.29908	0.895	0.09310	N	1	D	0.56968	0.978	P	0.51415	0.669	T	0.22487	-1.0215	10	0.59425	D	0.04	-0.6605	6.0944	0.20013	0.3172:0.0:0.6828:0.0	.	372	Q8IYG6	LRC56_HUMAN	Y	372	ENSP00000270115:D372Y	ENSP00000270115:D372Y	D	+	1	0	LRRC56	542165	0.044000	0.20184	0.006000	0.13384	0.666000	0.39218	2.308000	0.43690	0.601000	0.29879	0.561000	0.74099	GAC		0.662	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254969.1	NM_198075		30	45	1	0	3.1745e-13	0.008361	4.51535e-13	30	45				
MUC2	4583	broad.mit.edu	37	11	1103934	1103934	+	Splice_Site	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:1103934A>T	ENST00000441003.2	+	48	8260	c.8233A>T	c.(8233-8235)Atg>Ttg	p.M2745L		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5107					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.M2745L(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)	GACATTTGTCATGTGAGTCCC	0.672																																							uc001lsx.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(15319-15321)ATG>TTG		mucin 2 precursor	Pranlukast(DB01411)						23.0	26.0	25.0					11																	1103934		2074	4186	6260	SO:0001630	splice_region_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1103934A>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.8234+1A>T	11.37:g.1103934A>T							p.M5107L	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)	51	15346	+		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)	5107			CTCK.		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.15319A>T		.	.	.	.	.	.	.	.	.	.	A	3.665	-0.068764	0.07228	.	.	ENSG00000198788	ENST00000441003	T	0.12361	2.69	3.79	1.36	0.22044	.	.	.	.	.	T	0.14657	0.0354	M	0.79475	2.455	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.46233	-0.9206	9	0.08837	T	0.75	.	7.9423	0.29965	0.5835:0.4165:0.0:0.0	.	2745	E7EUV1	.	L	2745	ENSP00000415183:M2745L	ENSP00000415183:M2745L	M	+	1	0	MUC2	1093934	0.961000	0.32948	0.950000	0.38849	0.008000	0.06430	1.351000	0.34022	0.079000	0.16929	-0.513000	0.04457	ATG		0.672	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	Missense_Mutation	2	1	0	0	0	0.004672	0	2	1				
OR51B2	79345	broad.mit.edu	37	11	5345155	5345155	+	Missense_Mutation	SNP	G	G	T	rs376911782		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:5345155G>T	ENST00000328813.2	-	1	427	c.373C>A	c.(373-375)Cgc>Agc	p.R125S	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R125S(2)		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)		AAAGGATTGCGGATGGCAATG	0.453																																							uc001mao.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(373-375)CGC>AGC		olfactory receptor, family 51, subfamily B,							99.0	89.0	93.0					11																	5345155		2201	4297	6498	SO:0001583	missense	79345				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5345155G>T	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.373C>A	11.37:g.5345155G>T	ENSP00000327540:p.Arg125Ser					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	p.R125S	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	428	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	125			Cytoplasmic (Potential).		Q96RD4	Missense_Mutation	SNP	ENST00000328813.2	37	c.373C>A	CCDS31377.1	.	.	.	.	.	.	.	.	.	.	G	9.915	1.210616	0.22289	.	.	ENSG00000184881	ENST00000328813	T	0.18810	2.19	4.28	-4.35	0.03656	GPCR, rhodopsin-like superfamily (1);	0.389135	0.18729	U	0.132787	T	0.12475	0.0303	L	0.33710	1.025	0.09310	N	1	P	0.39940	0.696	B	0.40038	0.317	T	0.18713	-1.0328	10	0.31617	T	0.26	.	7.9383	0.29944	0.6519:0.0:0.2226:0.1254	.	125	Q9Y5P1	O51B2_HUMAN	S	125	ENSP00000327540:R125S	ENSP00000327540:R125S	R	-	1	0	OR51B2	5301731	0.000000	0.05858	0.150000	0.22450	0.920000	0.55202	-0.167000	0.09940	-0.714000	0.04975	0.644000	0.83932	CGC		0.453	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180		34	55	1	0	8.4185e-14	0.002445	1.20834e-13	34	55				
OLFML1	283298	broad.mit.edu	37	11	7531356	7531356	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:7531356C>A	ENST00000329293.3	+	3	1540	c.1146C>A	c.(1144-1146)gcC>gcA	p.A382A	OLFML1_ENST00000530135.1_Silent_p.A382A|OLFML1_ENST00000528758.1_3'UTR|CTD-2516F10.2_ENST00000530201.1_RNA	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	382	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.					extracellular region (GO:0005576)		p.A382A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AGCTCTATGCCTGGAATGAAG	0.463																																							uc001mfi.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1144-1146)GCC>GCA		olfactomedin-like 1 precursor							58.0	52.0	54.0					11																	7531356		2201	4296	6497	SO:0001819	synonymous_variant	283298					extracellular region		g.chr11:7531356C>A	AY358591	CCDS7779.1	11p15	2008-02-05			ENSG00000183801	ENSG00000183801			24473	protein-coding gene	gene with protein product							Standard	NM_198474		Approved	UNQ564	uc001mfi.3	Q6UWY5	OTTHUMG00000165527	ENST00000329293.3:c.1146C>A	11.37:g.7531356C>A						OLFML1_uc010raz.1_Silent_p.A246A|OLFML1_uc010rba.1_Silent_p.A382A	p.A382A	NM_198474	NP_940876	Q6UWY5	OLFL1_HUMAN		Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	3	1498	+			382			Olfactomedin-like.		B4DP03|Q569G4	Silent	SNP	ENST00000329293.3	37	c.1146C>A	CCDS7779.1																																																																																				0.463	OLFML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384656.1	NM_198474		23	46	1	0	7.41877e-09	0.001882	8.89882e-09	23	46				
NELL1	4745	broad.mit.edu	37	11	20948973	20948973	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:20948973G>C	ENST00000357134.5	+	8	1031	c.879G>C	c.(877-879)agG>agC	p.R293S	NELL1_ENST00000325319.5_Missense_Mutation_p.R236S|NELL1_ENST00000532434.1_Missense_Mutation_p.R293S|NELL1_ENST00000298925.5_Missense_Mutation_p.R321S	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	293	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.R293S(2)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ACCATTGCAGGAACTGCACTT	0.383																																							uc001mqe.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)	3						c.(877-879)AGG>AGC		nel-like 1 isoform 1 precursor							104.0	98.0	100.0					11																	20948973		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20948973G>C	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.879G>C	11.37:g.20948973G>C	ENSP00000349654:p.Arg293Ser					NELL1_uc001mqf.2_Missense_Mutation_p.R293S|NELL1_uc009yid.2_Missense_Mutation_p.R321S|NELL1_uc010rdo.1_Missense_Mutation_p.R236S|NELL1_uc010rdp.1_Missense_Mutation_p.R53S	p.R293S	NM_006157	NP_006148	Q92832	NELL1_HUMAN			8	1032	+			293			VWFC 1.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.879G>C	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162668	0.57368	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.7	4.78	0.61160	von Willebrand factor, type C (4);	0.000000	0.85682	D	0.000000	T	0.75339	0.3836	L	0.41632	1.29	0.58432	D	0.999996	D;D;B;D	0.69078	0.996;0.997;0.007;0.997	D;D;B;D	0.80764	0.99;0.994;0.023;0.994	T	0.70189	-0.4940	10	0.09590	T	0.72	-19.8764	14.9826	0.71321	0.0691:0.0:0.9308:0.0	.	236;321;293;293	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	S	321;293;236;293	ENSP00000298925:R321S;ENSP00000349654:R293S;ENSP00000317837:R236S;ENSP00000437170:R293S	ENSP00000298925:R321S	R	+	3	2	NELL1	20905549	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.956000	0.49129	1.385000	0.46445	0.557000	0.71058	AGG		0.383	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		12	48	0	0	0	0.000978	0	12	48				
ANO5	203859	broad.mit.edu	37	11	22248963	22248963	+	Missense_Mutation	SNP	G	G	A	rs150652958		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:22248963G>A	ENST00000324559.8	+	7	796	c.479G>A	c.(478-480)cGc>cAc	p.R160H		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	160					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)	p.R160H(2)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GATATTCCCCGCCCTAAGCAC	0.433																																							uc001mqi.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(3)|ovary(1)	4						c.(478-480)CGC>CAC		anoctamin 5 isoform a		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	143.0	137.0	139.0		476,479	1.9	0.0	11	dbSNP_134	139	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	ANO5	NM_001142649.1,NM_213599.2	29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	159/913,160/914	22248963	2,13004	2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22248963G>A	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.479G>A	11.37:g.22248963G>A	ENSP00000315371:p.Arg160His					ANO5_uc001mqj.2_Missense_Mutation_p.R159H	p.R160H	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			7	796	+			160			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000324559.8	37	c.479G>A	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	G	6.550	0.469735	0.12461	0.0	2.33E-4	ENSG00000171714	ENST00000324559	T	0.56275	0.47	5.84	1.87	0.25490	.	1.173880	0.05865	N	0.623690	T	0.43411	0.1246	N	0.25647	0.755	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.37009	-0.9724	10	0.41790	T	0.15	.	12.49	0.55895	0.0:0.5272:0.382:0.0909	.	160	Q75V66	ANO5_HUMAN	H	160	ENSP00000315371:R160H	ENSP00000315371:R160H	R	+	2	0	ANO5	22205539	0.000000	0.05858	0.004000	0.12327	0.014000	0.08584	0.957000	0.29215	0.091000	0.17302	0.650000	0.86243	CGC		0.433	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		50	104	0	0	0	0.00361	0	50	104				
SLC5A12	159963	broad.mit.edu	37	11	26700315	26700315	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:26700315C>A	ENST00000396005.3	-	13	1832	c.1523G>T	c.(1522-1524)aGt>aTt	p.S508I		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	508					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.S508I(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GCCCACTGCACTGTAGTAAAG	0.463																																							uc001mra.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1522-1524)AGT>ATT		solute carrier family 5 (sodium/glucose							137.0	135.0	136.0					11																	26700315		1985	4170	6155	SO:0001583	missense	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26700315C>A	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.1523G>T	11.37:g.26700315C>A	ENSP00000379326:p.Ser508Ile					SLC5A12_uc001mrb.2_RNA	p.S508I	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN			13	1836	-			508			Helical; (Potential).		Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	c.1523G>T	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780557	0.90195	.	.	ENSG00000148942	ENST00000396005	T	0.66460	-0.21	5.95	5.95	0.96441	.	0.181162	0.45867	U	0.000325	D	0.84037	0.5384	M	0.85373	2.75	0.80722	D	1	D	0.69078	0.997	D	0.69307	0.963	D	0.85585	0.1242	10	0.87932	D	0	.	19.1569	0.93514	0.0:1.0:0.0:0.0	.	508	Q1EHB4	SC5AC_HUMAN	I	508	ENSP00000379326:S508I	ENSP00000379326:S508I	S	-	2	0	SLC5A12	26656891	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.863000	0.69568	2.825000	0.97269	0.655000	0.94253	AGT		0.463	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		44	86	1	0	7.05121e-23	0.002522	1.20008e-22	44	86				
BBOX1	8424	broad.mit.edu	37	11	27147256	27147256	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:27147256A>T	ENST00000529202.1	+	7	1231	c.892A>T	c.(892-894)Aca>Tca	p.T298S	RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000530430.1_RNA|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000525090.1_Missense_Mutation_p.T298S|BBOX1_ENST00000263182.3_Missense_Mutation_p.T298S|BBOX1_ENST00000528583.1_Missense_Mutation_p.T298S			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	298					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)	p.T298S(2)		breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	aactagggacacaatatttga	0.348																																							uc001mre.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(892-894)ACA>TCA		gamma-butyrobetaine dioxygenase	Succinic acid(DB00139)|Vitamin C(DB00126)						95.0	81.0	85.0					11																	27147256		2201	4299	6500	SO:0001583	missense	8424				carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr11:27147256A>T	AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	ENST00000529202.1:c.892A>T	11.37:g.27147256A>T	ENSP00000435781:p.Thr298Ser					BBOX1_uc009yih.1_Missense_Mutation_p.T298S|BBOX1_uc001mrg.1_Missense_Mutation_p.T298S	p.T298S	NM_003986	NP_003977	O75936	BODG_HUMAN			8	1260	+			298					B2R8L7|D3DQZ1|Q6IBJ2	Missense_Mutation	SNP	ENST00000529202.1	37	c.892A>T	CCDS7862.1	.	.	.	.	.	.	.	.	.	.	A	7.407	0.633965	0.14322	.	.	ENSG00000129151	ENST00000529202;ENST00000263182;ENST00000528583;ENST00000525090	T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47	6.03	6.03	0.97812	.	0.102551	0.64402	D	0.000002	T	0.53932	0.1827	N	0.01405	-0.89	0.41197	D	0.986346	B	0.10296	0.003	B	0.12156	0.007	T	0.56135	-0.8029	10	0.19590	T	0.45	.	10.6055	0.45392	0.8565:0.0:0.0:0.1435	.	298	O75936	BODG_HUMAN	S	298	ENSP00000435781:T298S;ENSP00000263182:T298S;ENSP00000434918:T298S;ENSP00000433772:T298S	ENSP00000263182:T298S	T	+	1	0	BBOX1	27103832	1.000000	0.71417	0.996000	0.52242	0.761000	0.43186	5.022000	0.64078	2.302000	0.77476	0.533000	0.62120	ACA		0.348	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387946.1	NM_003986		11	22	0	0	0	0.008291	0	11	22				
LMO2	4005	broad.mit.edu	37	11	33886333	33886333	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:33886333G>A	ENST00000395833.3	-	2	501	c.72C>T	c.(70-72)ccC>ccT	p.P24P	LMO2_ENST00000257818.2_Silent_p.P93P	NM_001142315.1|NM_001142316.1	NP_001135787.1|NP_001135788.1	P25791	RBTN2_HUMAN	LIM domain only 2 (rhombotin-like 1)	24					cellular response to thyroid hormone stimulus (GO:0097067)|embryonic hemopoiesis (GO:0035162)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|cofactor binding (GO:0048037)|E-box binding (GO:0070888)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|zinc ion binding (GO:0008270)	p.P24P(2)		NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						GCAGGGATGGGGGGATCTGCA	0.617			T	TRD@	T-ALL																																		uc001mve.2		NA		Dom	yes		11	11p13	4005	T	LIM domain only 2 (rhombotin-like 1) (RBTN2)			L	TRD@		T-ALL		2	Substitution - coding silent(2)		lung(2)	lung(1)	1						c.(70-72)CCC>CCT		LIM domain only 2 isoform 2							57.0	50.0	52.0					11																	33886333		2202	4298	6500	SO:0001819	synonymous_variant	4005				multicellular organismal development	nucleus	protein binding|zinc ion binding	g.chr11:33886333G>A	X61118	CCDS7888.2, CCDS44567.1	11p13	2008-07-18			ENSG00000135363	ENSG00000135363			6642	protein-coding gene	gene with protein product	"""T-cell translocation gene 2"", ""rhombotin-like 1"""	180385		RBTNL1		2034676	Standard	NM_005574		Approved	TTG2, RHOM2, RBTN2	uc010rem.2	P25791	OTTHUMG00000157176	ENST00000395833.3:c.72C>T	11.37:g.33886333G>A						LMO2_uc001mvc.2_Silent_p.P17P|LMO2_uc001mvd.2_Silent_p.P17P|LMO2_uc010rel.1_Silent_p.P24P|LMO2_uc010rem.1_Silent_p.P93P	p.P24P	NM_001142316	NP_001135788	P25791	RBTN2_HUMAN			2	511	-			24					Q9HD58	Silent	SNP	ENST00000395833.3	37	c.72C>T	CCDS44567.1																																																																																				0.617	LMO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347777.1	NM_005574		9	70	0	0	0	0.001368	0	9	70				
TTC17	55761	broad.mit.edu	37	11	43411214	43411214	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:43411214G>T	ENST00000039989.4	+	3	276	c.262G>T	c.(262-264)Gct>Tct	p.A88S	TTC17_ENST00000299240.6_Missense_Mutation_p.A88S|RP11-484D2.4_ENST00000394183.2_RNA	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	88					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.A88S(2)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						ACAATTAGTTGCTCAAAAAAT	0.383																																							uc001mxi.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)	5						c.(262-264)GCT>TCT		tetratricopeptide repeat domain 17							86.0	83.0	84.0					11																	43411214		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43411214G>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.262G>T	11.37:g.43411214G>T	ENSP00000039989:p.Ala88Ser					TTC17_uc001mxh.2_Missense_Mutation_p.A88S|TTC17_uc010rfj.1_Missense_Mutation_p.A31S	p.A88S	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN			3	276	+			88					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.262G>T	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937570	0.73557	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.33654	1.4;1.41	4.87	4.87	0.63330	.	0.047599	0.85682	D	0.000000	T	0.51652	0.1687	L	0.54323	1.7	0.58432	D	0.999993	P;P;D	0.62365	0.944;0.688;0.991	P;B;P	0.61070	0.655;0.13;0.883	T	0.40194	-0.9576	10	0.23891	T	0.37	-10.3625	18.3743	0.90430	0.0:0.0:1.0:0.0	.	88;88;88	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	S	88	ENSP00000299240:A88S;ENSP00000039989:A88S	ENSP00000039989:A88S	A	+	1	0	TTC17	43367790	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.420000	0.97426	2.400000	0.81607	0.563000	0.77884	GCT		0.383	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		28	75	1	0	2.25844e-05	0.007291	2.46489e-05	28	75				
OR4A15	81328	broad.mit.edu	37	11	55136164	55136164	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:55136164G>T	ENST00000314706.3	+	1	805	c.805G>T	c.(805-807)Gca>Tca	p.A269S		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A269S(2)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTACACCTGTGCATCCCACGT	0.423																																							uc010rif.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(805-807)GCA>TCA		olfactory receptor, family 4, subfamily A,							222.0	201.0	208.0					11																	55136164		2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55136164G>T	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.805G>T	11.37:g.55136164G>T	ENSP00000325065:p.Ala269Ser						p.A269S	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	805	+			269			Helical; Name=6; (Potential).		Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.805G>T	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	-	8.837	0.941383	0.18281	.	.	ENSG00000181958	ENST00000314706	T	0.38887	1.11	3.65	0.319	0.15873	GPCR, rhodopsin-like superfamily (1);	1.072530	0.07285	N	0.871393	T	0.22126	0.0533	N	0.16201	0.385	0.09310	N	1	B	0.13145	0.007	B	0.23716	0.048	T	0.29792	-1.0000	10	0.07990	T	0.79	.	5.4841	0.16739	0.5889:0.0:0.4111:0.0	.	269	Q8NGL6	O4A15_HUMAN	S	269	ENSP00000325065:A269S	ENSP00000325065:A269S	A	+	1	0	OR4A15	54892740	0.000000	0.05858	0.012000	0.15200	0.899000	0.52679	-1.156000	0.03160	0.225000	0.20959	0.492000	0.49549	GCA		0.423	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		69	232	1	0	1.72039e-30	0.00361	3.251e-30	69	232				
OR4C6	219432	broad.mit.edu	37	11	55432926	55432926	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:55432926G>C	ENST00000314259.3	+	1	313	c.284G>C	c.(283-285)tGc>tCc	p.C95S		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C95S(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTCAAAGGCTGCCTCACCCAG	0.527																																							uc001nht.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(283-285)TGC>TCC		olfactory receptor, family 4, subfamily C,							134.0	121.0	126.0					11																	55432926		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432926G>C	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.284G>C	11.37:g.55432926G>C	ENSP00000324769:p.Cys95Ser					OR4C6_uc010rik.1_Missense_Mutation_p.C95S	p.C95S	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	549	+			95			Extracellular (Potential).		B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.284G>C	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.751095	0.49257	.	.	ENSG00000181903	ENST00000314259	T	0.00540	6.7	3.83	3.83	0.44106	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42053	D	0.000771	T	0.05686	0.0149	H	0.99545	4.62	0.43593	D	0.995946	D	0.89917	1.0	D	0.91635	0.999	T	0.05666	-1.0871	10	0.87932	D	0	.	14.3601	0.66766	0.0:0.0:1.0:0.0	.	95	Q8NH72	OR4C6_HUMAN	S	95	ENSP00000324769:C95S	ENSP00000324769:C95S	C	+	2	0	OR4C6	55189502	1.000000	0.71417	0.856000	0.33681	0.065000	0.16274	8.001000	0.88508	1.698000	0.51180	0.543000	0.68304	TGC		0.527	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		40	160	0	0	0	0.00623	0	40	160				
OR4C6	219432	broad.mit.edu	37	11	55433526	55433526	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:55433526C>A	ENST00000314259.3	+	1	913	c.884C>A	c.(883-885)gCc>gAc	p.A295D		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A295D(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GTGAAAAGTGCCATGAAGAAA	0.433																																							uc001nht.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(883-885)GCC>GAC		olfactory receptor, family 4, subfamily C,							82.0	82.0	82.0					11																	55433526		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433526C>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.884C>A	11.37:g.55433526C>A	ENSP00000324769:p.Ala295Asp					OR4C6_uc010rik.1_Missense_Mutation_p.A295D	p.A295D	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	1149	+			295			Cytoplasmic (Potential).		B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.884C>A	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043917	0.36085	.	.	ENSG00000181903	ENST00000314259	T	0.46063	0.88	4.0	2.07	0.26955	.	0.202272	0.24447	N	0.038458	T	0.69531	0.3121	H	0.99464	4.58	0.09310	N	0.999992	P	0.48694	0.914	P	0.55667	0.781	T	0.64558	-0.6379	10	0.87932	D	0	.	3.533	0.07784	0.1721:0.5647:0.1671:0.0961	.	295	Q8NH72	OR4C6_HUMAN	D	295	ENSP00000324769:A295D	ENSP00000324769:A295D	A	+	2	0	OR4C6	55190102	0.000000	0.05858	0.987000	0.45799	0.904000	0.53231	0.881000	0.28173	0.196000	0.20367	0.530000	0.56133	GCC		0.433	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		20	79	1	0	2.94398e-08	0.007413	3.44704e-08	20	79				
OR5D16	390144	broad.mit.edu	37	11	55607101	55607101	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:55607101T>A	ENST00000378396.1	+	1	874	c.874T>A	c.(874-876)Tac>Aac	p.Y292N		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y292N(2)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TCCCCTGATCTACAGTCTGAG	0.378																																							uc010rio.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(874-876)TAC>AAC		olfactory receptor, family 5, subfamily D,							55.0	54.0	55.0					11																	55607101		2201	4296	6497	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55607101T>A	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.874T>A	11.37:g.55607101T>A	ENSP00000367649:p.Tyr292Asn						p.Y292N	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			1	874	+		all_epithelial(135;0.208)	292			Helical; Name=7; (Potential).		Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.874T>A	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	12.50	1.957275	0.34565	.	.	ENSG00000205029	ENST00000378396	T	0.61859	0.07	4.43	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.74966	0.3786	M	0.85710	2.77	0.35572	D	0.805552	D	0.89917	1.0	D	0.83275	0.996	T	0.80016	-0.1559	9	0.87932	D	0	-18.9148	8.4601	0.32923	0.1747:0.0:0.0:0.8253	.	292	Q8NGK9	OR5DG_HUMAN	N	292	ENSP00000367649:Y292N	ENSP00000367649:Y292N	Y	+	1	0	OR5D16	55363677	1.000000	0.71417	0.007000	0.13788	0.041000	0.13682	7.465000	0.80898	0.623000	0.30267	0.439000	0.28862	TAC		0.378	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		27	90	0	0	0	0.004656	0	27	90				
OR10AG1	282770	broad.mit.edu	37	11	55735298	55735298	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:55735298G>A	ENST00000312345.2	-	1	692	c.642C>T	c.(640-642)tcC>tcT	p.S214S		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S214S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TCAAAATGTTGGAGATAATTT	0.393																																							uc010rit.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(2)	2						c.(640-642)TCC>TCT		olfactory receptor, family 10, subfamily AG,							64.0	64.0	64.0					11																	55735298		2201	4296	6497	SO:0001819	synonymous_variant	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735298G>A	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.642C>T	11.37:g.55735298G>A							p.S214S	NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN			1	642	-	Esophageal squamous(21;0.0137)		214			Cytoplasmic (Potential).		B2RNH4|Q6IEU3	Silent	SNP	ENST00000312345.2	37	c.642C>T	CCDS31514.1																																																																																				0.393	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		20	49	0	0	0	0.007413	0	20	49				
OR8K5	219453	broad.mit.edu	37	11	55927268	55927268	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:55927268G>T	ENST00000313447.1	-	1	525	c.526C>A	c.(526-528)Cat>Aat	p.H176N		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H176N(2)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CAGTAAAAATGACTGATGACA	0.358																																							uc010rja.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(526-528)CAT>AAT		olfactory receptor, family 8, subfamily K,							92.0	93.0	93.0					11																	55927268		2201	4295	6496	SO:0001583	missense	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927268G>T	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.526C>A	11.37:g.55927268G>T	ENSP00000323853:p.His176Asn						p.H176N	NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN			1	526	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	176			Extracellular (Potential).		Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	c.526C>A	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979050	0.53827	.	.	ENSG00000181752	ENST00000313447	T	0.00164	8.64	4.18	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000017	T	0.00328	0.0010	M	0.86805	2.84	0.25350	N	0.988877	P	0.49358	0.923	P	0.48571	0.582	T	0.21965	-1.0230	10	0.72032	D	0.01	.	11.3805	0.49754	0.0929:0.0:0.9071:0.0	.	176	Q8NH50	OR8K5_HUMAN	N	176	ENSP00000323853:H176N	ENSP00000323853:H176N	H	-	1	0	OR8K5	55683844	0.762000	0.28451	1.000000	0.80357	0.962000	0.63368	1.111000	0.31159	1.096000	0.41439	0.567000	0.79289	CAT		0.358	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		27	98	1	0	4.87955e-14	0.005443	7.01659e-14	27	98				
OR5T3	390154	broad.mit.edu	37	11	56020456	56020456	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:56020456G>C	ENST00000303059.3	+	1	781	c.781G>C	c.(781-783)Gct>Cct	p.A261P		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A261P(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GATGCATTCTGCTAAGGGAAG	0.408																																							uc010rjd.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(781-783)GCT>CCT		olfactory receptor, family 5, subfamily T,							226.0	205.0	212.0					11																	56020456		2201	4295	6496	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020456G>C	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.781G>C	11.37:g.56020456G>C	ENSP00000305403:p.Ala261Pro						p.A261P	NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN			1	781	+	Esophageal squamous(21;0.00448)		261			Cytoplasmic (Potential).		Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.781G>C	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	G	6.916	0.538714	0.13250	.	.	ENSG00000172489	ENST00000303059	T	0.00220	8.52	4.65	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.307999	0.23224	N	0.050525	T	0.00241	0.0007	M	0.70108	2.13	0.09310	N	1	B	0.20887	0.049	B	0.33254	0.16	T	0.33727	-0.9857	10	0.62326	D	0.03	.	5.5657	0.17168	0.1658:0.0:0.6742:0.1601	.	261	Q8NGG3	OR5T3_HUMAN	P	261	ENSP00000305403:A261P	ENSP00000305403:A261P	A	+	1	0	OR5T3	55777032	0.000000	0.05858	0.428000	0.26697	0.016000	0.09150	0.037000	0.13840	0.638000	0.30545	0.643000	0.83706	GCT		0.408	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		76	252	0	0	0	0.00361	0	76	252				
OR5M1	390168	broad.mit.edu	37	11	56380871	56380871	+	Silent	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:56380871T>A	ENST00000526538.1	-	1	107	c.108A>T	c.(106-108)ctA>ctT	p.L36L		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L36L(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						CCAGTGTGATTAGGTAGATCG	0.498																																							uc001nja.1		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(106-108)CTA>CTT		olfactory receptor, family 5, subfamily M,							169.0	164.0	166.0					11																	56380871		1974	4159	6133	SO:0001819	synonymous_variant	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380871T>A	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.108A>T	11.37:g.56380871T>A							p.L36L	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN			1	108	-			36			Helical; Name=1; (Potential).		Q6IF60|Q96RB6	Silent	SNP	ENST00000526538.1	37	c.108A>T	CCDS53631.1																																																																																				0.498	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		48	149	0	0	0	0.00361	0	48	149				
OR9G4	283189	broad.mit.edu	37	11	56511222	56511222	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:56511222G>T	ENST00000302957.3	-	1	65	c.66C>A	c.(64-66)acC>acA	p.T22T		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T22T(2)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CAGTCAGGATGGTGCAATTTC	0.423																																							uc010rjo.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(64-66)ACC>ACA		olfactory receptor, family 9, subfamily G,							92.0	85.0	87.0					11																	56511222		2201	4296	6497	SO:0001819	synonymous_variant	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56511222G>T	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.66C>A	11.37:g.56511222G>T							p.T22T	NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN			1	66	-			22			Extracellular (Potential).		Q6IF62|Q96RA9	Silent	SNP	ENST00000302957.3	37	c.66C>A	CCDS31537.1																																																																																				0.423	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		22	79	1	0	5.26018e-13	0.001882	7.44169e-13	22	79				
OR5B12	390191	broad.mit.edu	37	11	58207543	58207543	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:58207543C>A	ENST00000302572.2	-	1	103	c.82G>T	c.(82-84)Gtc>Ttc	p.V28F		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V28F(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAAAGGAAGACTATGAAGAGT	0.468																																							uc010rkh.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(82-84)GTC>TTC		olfactory receptor, family 5, subfamily B,							96.0	108.0	104.0					11																	58207543		2201	4295	6496	SO:0001583	missense	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58207543C>A	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.82G>T	11.37:g.58207543C>A	ENSP00000306657:p.Val28Phe						p.V28F	NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN			1	82	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	28			Helical; Name=1; (Potential).		B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	c.82G>T	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	C	5.665	0.307364	0.10733	.	.	ENSG00000172362	ENST00000302572	T	0.03065	4.06	4.74	-3.62	0.04543	.	1.114660	0.06903	N	0.806259	T	0.03959	0.0111	L	0.36672	1.1	0.09310	N	1	P	0.37061	0.58	B	0.38296	0.27	T	0.40590	-0.9555	10	0.59425	D	0.04	-9.0902	7.8603	0.29506	0.0:0.4061:0.3377:0.2562	.	28	Q96R08	OR5BC_HUMAN	F	28	ENSP00000306657:V28F	ENSP00000306657:V28F	V	-	1	0	OR5B12	57964119	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-8.809000	0.00016	-0.787000	0.04510	-0.367000	0.07326	GTC		0.468	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		34	88	1	0	2.47316e-13	0.003271	3.53052e-13	34	88				
GLYATL2	219970	broad.mit.edu	37	11	58604550	58604550	+	Silent	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:58604550T>C	ENST00000287275.1	-	5	804	c.414A>G	c.(412-414)ccA>ccG	p.P138P	GLYATL2_ENST00000532258.1_Silent_p.P138P|GLYATL2_ENST00000533636.1_5'UTR	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	138						endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)	p.P138P(2)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TGTGTTTCTTTGGTAATTCCG	0.378																																							uc001nnd.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(412-414)CCA>CCG		glycine-N-acyltransferase-like 2	Glycine(DB00145)						185.0	168.0	173.0					11																	58604550		1887	4117	6004	SO:0001819	synonymous_variant	219970					mitochondrion	glycine N-acyltransferase activity	g.chr11:58604550T>C	AF426250	CCDS41649.1	11q12.1	2008-02-05				ENSG00000156689			24178	protein-coding gene	gene with protein product		614762				12477932	Standard	NM_145016		Approved	BXMAS2-10, MGC24009	uc001nnd.4	Q8WU03		ENST00000287275.1:c.414A>G	11.37:g.58604550T>C						GLYATL2_uc009ymq.2_Silent_p.P138P	p.P138P	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN			5	545	-		Breast(21;0.0044)|all_epithelial(135;0.0216)	138					A5LGC7|Q86WC3|Q96AT2	Silent	SNP	ENST00000287275.1	37	c.414A>G	CCDS41649.1																																																																																				0.378	GLYATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394599.1	NM_145016		45	158	0	0	0	0.009718	0	45	158				
GLYATL2	219970	broad.mit.edu	37	11	58605833	58605833	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:58605833G>T	ENST00000287275.1	-	3	477	c.87C>A	c.(85-87)ggC>ggA	p.G29G	GLYATL2_ENST00000532258.1_Silent_p.G29G|GLYATL2_ENST00000533636.1_5'UTR	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	29						endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)	p.G29G(2)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TGAAAATGGCGCCATATACCT	0.418																																							uc001nnd.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(85-87)GGC>GGA		glycine-N-acyltransferase-like 2	Glycine(DB00145)						85.0	84.0	84.0					11																	58605833		1919	4155	6074	SO:0001819	synonymous_variant	219970					mitochondrion	glycine N-acyltransferase activity	g.chr11:58605833G>T	AF426250	CCDS41649.1	11q12.1	2008-02-05				ENSG00000156689			24178	protein-coding gene	gene with protein product		614762				12477932	Standard	NM_145016		Approved	BXMAS2-10, MGC24009	uc001nnd.4	Q8WU03		ENST00000287275.1:c.87C>A	11.37:g.58605833G>T						GLYATL2_uc009ymq.2_Silent_p.G29G	p.G29G	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN			3	218	-		Breast(21;0.0044)|all_epithelial(135;0.0216)	29					A5LGC7|Q86WC3|Q96AT2	Silent	SNP	ENST00000287275.1	37	c.87C>A	CCDS41649.1																																																																																				0.418	GLYATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394599.1	NM_145016		13	41	1	0	2.27111e-07	0.001368	2.59367e-07	13	41				
MS4A4A	51338	broad.mit.edu	37	11	60064675	60064675	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:60064675G>T	ENST00000337908.4	+	3	297	c.207G>T	c.(205-207)gtG>gtT	p.V69V	MS4A4A_ENST00000532114.1_Silent_p.V69V|MS4A4A_ENST00000395016.3_Silent_p.V50V|MS4A4A_ENST00000355131.3_Silent_p.V50V	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	69						integral component of membrane (GO:0016021)		p.V50V(2)|p.V69V(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						TTTAGGTTGTGCAGATTCTGA	0.423																																							uc001noz.2		NA																	4	Substitution - coding silent(4)		lung(4)		0						c.(205-207)GTG>GTT		membrane-spanning 4-domains, subfamily A, member							142.0	128.0	133.0					11																	60064675		2203	4300	6503	SO:0001819	synonymous_variant	51338					integral to membrane	receptor activity	g.chr11:60064675G>T	AB013102	CCDS7982.1, CCDS58135.1	11q12	2012-02-28	2012-02-28		ENSG00000110079	ENSG00000110079			13371	protein-coding gene	gene with protein product		606547	"""membrane-spanning 4-domains, subfamily A, member 4"""	MS4A4		11245982, 11401424	Standard	NM_148975		Approved	CD20L1, MS4A7	uc001noz.3	Q96JQ5	OTTHUMG00000154949	ENST00000337908.4:c.207G>T	11.37:g.60064675G>T						MS4A4A_uc001npa.2_Silent_p.V50V|MS4A4A_uc001npb.2_Silent_p.V50V|MS4A4A_uc001npc.2_Silent_p.V50V	p.V69V	NM_148975	NP_683876	Q96JQ5	M4A4A_HUMAN			3	217	+			69			Helical; (Potential).		Q8TEZ6|Q96PG7|Q9BY18|Q9H3V3|Q9P1S3	Silent	SNP	ENST00000337908.4	37	c.207G>T	CCDS7982.1																																																																																				0.423	MS4A4A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337774.2			36	112	1	0	1.836e-18	0.003755	2.91687e-18	36	112				
INTS5	80789	broad.mit.edu	37	11	62415695	62415695	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:62415695C>A	ENST00000330574.2	-	2	1909	c.1857G>T	c.(1855-1857)gaG>gaT	p.E619D	GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000534779.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	619					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.E619D(2)		breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CAGCTACTTCCTCCTCAGGAT	0.617																																							uc001nud.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1855-1857)GAG>GAT		integrator complex subunit 5							44.0	40.0	41.0					11																	62415695		2202	4298	6500	SO:0001583	missense	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62415695C>A	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.1857G>T	11.37:g.62415695C>A	ENSP00000327889:p.Glu619Asp					GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	p.E619D	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN			2	1910	-			619					Q8N6W5|Q9C0G5	Missense_Mutation	SNP	ENST00000330574.2	37	c.1857G>T	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	C	2.862	-0.235908	0.05944	.	.	ENSG00000185085	ENST00000330574	.	.	.	5.44	1.49	0.22878	.	0.275439	0.35067	N	0.003480	T	0.12646	0.0307	N	0.14661	0.345	0.25768	N	0.984865	P	0.40834	0.73	B	0.38755	0.281	T	0.15093	-1.0449	9	0.12103	T	0.63	.	4.1083	0.10047	0.1538:0.5126:0.0:0.3336	.	619	Q6P9B9	INT5_HUMAN	D	619	.	ENSP00000327889:E619D	E	-	3	2	INTS5	62172271	0.968000	0.33430	1.000000	0.80357	0.995000	0.86356	0.001000	0.13038	0.435000	0.26365	-0.136000	0.14681	GAG		0.617	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		17	63	1	0	3.41278e-10	0.00499	4.27547e-10	17	63				
SLC22A6	9356	broad.mit.edu	37	11	62751943	62751943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:62751943G>A	ENST00000377871.3	-	1	486	c.220C>T	c.(220-222)Cag>Tag	p.Q74*	SLC22A6_ENST00000458333.2_Nonsense_Mutation_p.Q74*|SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000360421.4_Nonsense_Mutation_p.Q74*|SLC22A6_ENST00000421062.2_Nonsense_Mutation_p.Q74*	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	74					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.Q74*(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GACTCAGGCTGCCCCTGCCTG	0.677																																							uc001nwk.2		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(220-222)CAG>TAG		solute carrier family 22 member 6 isoform a							45.0	48.0	47.0					11																	62751943		2201	4298	6499	SO:0001587	stop_gained	9356				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	g.chr11:62751943G>A	AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.220C>T	11.37:g.62751943G>A	ENSP00000367102:p.Gln74*					SLC22A6_uc001nwl.2_Nonsense_Mutation_p.Q74*|SLC22A6_uc001nwj.2_Nonsense_Mutation_p.Q74*|SLC22A6_uc001nwm.2_Nonsense_Mutation_p.Q74*	p.Q74*	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN			1	527	-			74			Extracellular (Potential).		A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Nonsense_Mutation	SNP	ENST00000377871.3	37	c.220C>T	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236724	0.58886	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	.	.	.	4.71	1.38	0.22167	.	0.843870	0.10412	N	0.677745	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.928	0.41505	0.0:0.0:0.4267:0.5733	.	.	.	.	X	74;53;74;74;74	.	ENSP00000353597:Q74X	Q	-	1	0	SLC22A6	62508519	0.000000	0.05858	0.005000	0.12908	0.045000	0.14185	0.263000	0.18478	0.541000	0.28827	0.557000	0.71058	CAG		0.677	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		16	41	0	0	0	0.007413	0	16	41				
CDC42BPG	55561	broad.mit.edu	37	11	64606195	64606195	+	Silent	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:64606195A>G	ENST00000342711.5	-	8	1055	c.1056T>C	c.(1054-1056)taT>taC	p.Y352Y		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)									p.Y352Y(2)		central_nervous_system(1)|lung(3)	4						GCTCAGGAATATAGGGGGCCG	0.617																																							uc001obs.3		NA																	2	Substitution - coding silent(2)		lung(2)	lung(3)|central_nervous_system(1)	4						c.(1054-1056)TAT>TAC		CDC42 binding protein kinase gamma (DMPK-like)							55.0	57.0	56.0					11																	64606195		2201	4297	6498	SO:0001819	synonymous_variant	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64606195A>G	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.1056T>C	11.37:g.64606195A>G							p.Y352Y	NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN			8	1056	-			352			AGC-kinase C-terminal.			Silent	SNP	ENST00000342711.5	37	c.1056T>C	CCDS31601.1																																																																																				0.617	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		24	100	0	0	0	0.00333	0	24	100				
SYT12	91683	broad.mit.edu	37	11	66812117	66812117	+	Silent	SNP	C	C	A	rs202228241		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:66812117C>A	ENST00000393946.2	+	9	2053	c.891C>A	c.(889-891)gcC>gcA	p.A297A	SYT12_ENST00000525457.1_Silent_p.A297A|SYT12_ENST00000527043.1_Silent_p.A297A			Q8IV01	SYT12_HUMAN	synaptotagmin XII	297	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)		p.A297A(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						TCCCCACAGCCGAGCGCCTCA	0.662																																					Ovarian(65;2862 3307)	Ovarian(65;2862 3307)	uc009yrl.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(889-891)GCC>GCA		synaptotagmin XII							77.0	64.0	69.0					11																	66812117		2200	4295	6495	SO:0001819	synonymous_variant	91683					cell junction|integral to membrane|synaptic vesicle membrane		g.chr11:66812117C>A	AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"""Synaptotagmins"""	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.891C>A	11.37:g.66812117C>A						SYT12_uc001oju.2_Silent_p.A297A	p.A297A	NM_177963	NP_808878	Q8IV01	SYT12_HUMAN			6	1121	+			297			C2 2.|Cytoplasmic (Potential).			Silent	SNP	ENST00000393946.2	37	c.891C>A	CCDS8154.1																																																																																				0.662	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	NM_177963		29	93	1	0	7.01153e-11	0.007291	9.08732e-11	29	93				
PPP1CA	5499	broad.mit.edu	37	11	67168577	67168577	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:67168577G>T	ENST00000376745.4	-	2	297	c.149C>A	c.(148-150)cCc>cAc	p.P50H	TBC1D10C_ENST00000526387.1_5'Flank|PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000312989.7_Missense_Mutation_p.P61H|TBC1D10C_ENST00000312390.5_5'Flank|PPP1CA_ENST00000358239.4_Intron	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	50					branching morphogenesis of an epithelial tube (GO:0048754)|cell cycle (GO:0007049)|cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|lung development (GO:0030324)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)|ribonucleoprotein complex binding (GO:0043021)	p.P147H(2)|p.P50H(1)|p.P61H(1)		breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CAGAAGAATGGGCTGGCTCAG	0.612																																							uc001okw.1		NA																	4	Substitution - Missense(4)		lung(4)	breast(1)|pancreas(1)	2						c.(148-150)CCC>CAC		protein phosphatase 1, catalytic subunit, alpha							53.0	60.0	58.0					11																	67168577		2200	4295	6495	SO:0001583	missense	5499				cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity	g.chr11:67168577G>T		CCDS8160.1, CCDS8161.1, CCDS31618.1	11q13	2013-01-18	2010-03-05			ENSG00000172531	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9281	protein-coding gene	gene with protein product		176875	"""protein phosphatase 1, catalytic subunit, alpha isoform"""	PPP1A			Standard	NM_002708		Approved	PP1A, PP-1A, PP1alpha	uc001oku.1	P62136		ENST00000376745.4:c.149C>A	11.37:g.67168577G>T	ENSP00000365936:p.Pro50His					PPP1CA_uc009yro.1_5'UTR|PPP1CA_uc001okt.1_Missense_Mutation_p.P55H|PPP1CA_uc001oku.1_Missense_Mutation_p.P61H|PPP1CA_uc001okv.1_Intron|PPP1CA_uc001okx.1_Missense_Mutation_p.P138H|PPP1CA_uc001oky.2_Missense_Mutation_p.P50H|TBC1D10C_uc001okz.2_5'Flank|TBC1D10C_uc001ola.2_5'Flank	p.P50H	NM_002708	NP_002699	P62136	PP1A_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.53e-07)		2	272	-			50					A6NNR3|B2R908|P08129|P20653|P22802|Q07161	Missense_Mutation	SNP	ENST00000376745.4	37	c.149C>A	CCDS8160.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654834	0.67472	.	.	ENSG00000172531	ENST00000312989;ENST00000451458;ENST00000376745;ENST00000527663;ENST00000546202;ENST00000542876	T;T;T;T;T	0.09538	2.97;2.97;2.97;2.97;2.97	4.93	4.93	0.64822	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);	0.000000	0.85682	D	0.000000	T	0.53351	0.1791	H	0.99238	4.48	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.99;0.995;0.999	D;D;P;D;D	0.74348	0.967;0.967;0.884;0.918;0.983	T	0.75722	-0.3218	10	0.87932	D	0	.	17.3129	0.87214	0.0:0.0:1.0:0.0	.	147;147;50;61;59	B3KXM2;E9PDP1;P62136;Q07161;F8W0W8	.;.;PP1A_HUMAN;.;.	H	61;147;50;50;135;147	ENSP00000326031:P61H;ENSP00000365936:P50H;ENSP00000431146:P50H;ENSP00000439568:P135H;ENSP00000438409:P147H	ENSP00000326031:P61H	P	-	2	0	PPP1CA	66925153	1.000000	0.71417	0.932000	0.37286	0.106000	0.19336	9.726000	0.98782	2.451000	0.82905	0.563000	0.77884	CCC		0.612	PPP1CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395487.1	NM_002708		26	68	1	0	2.48779e-11	0.005443	3.27276e-11	26	68				
KCTD14	65987	broad.mit.edu	37	11	77727720	77727720	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:77727720G>A	ENST00000353172.5	-	2	731	c.687C>T	c.(685-687)ttC>ttT	p.F229F	KCTD14_ENST00000533144.1_Silent_p.F199F|RP11-7I15.3_ENST00000533697.1_RNA	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	229					protein homooligomerization (GO:0051260)			p.F229F(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			AGAACTTGGAGAATACCTTGT	0.493																																					NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748)	NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748)	uc001oyw.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(685-687)TTC>TTT		potassium channel tetramerisation domain							159.0	141.0	147.0					11																	77727720		2200	4292	6492	SO:0001819	synonymous_variant	65987					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:77727720G>A	BC001062	CCDS8255.2, CCDS60908.1	11q13.4	2013-06-20	2013-06-20		ENSG00000151364	ENSG00000151364			23295	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 14"""			12477932	Standard	NM_023930		Approved	MGC2376	uc001oyw.4	Q9BQ13	OTTHUMG00000150224	ENST00000353172.5:c.687C>T	11.37:g.77727720G>A							p.F229F	NM_023930	NP_076419	Q9BQ13	KCD14_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1e-24)		2	712	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		229					B2R9R8	Silent	SNP	ENST00000353172.5	37	c.687C>T	CCDS8255.2																																																																																				0.493	KCTD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316888.1	NM_023930		30	114	0	0	0	0.008361	0	30	114				
TENM4	26011	broad.mit.edu	37	11	78369779	78369779	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:78369779G>A	ENST00000278550.7	-	34	8096	c.7634C>T	c.(7633-7635)tCc>tTc	p.S2545F		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2545					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.S2545F(4)									GGTGATTGTGGAGCCATAGAG	0.537																																							uc001ozl.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|pancreas(2)	4						c.(7633-7635)TCC>TTC		odz, odd Oz/ten-m homolog 4							65.0	68.0	67.0					11																	78369779		1997	4161	6158	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78369779G>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7634C>T	11.37:g.78369779G>A	ENSP00000278550:p.Ser2545Phe					ODZ4_uc001ozk.3_Missense_Mutation_p.S770F|ODZ4_uc009yvb.1_Intron	p.S2545F	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			34	8097	-			2545			Extracellular (Potential).		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.7634C>T	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331436	0.60853	.	.	ENSG00000149256	ENST00000278550	D	0.90563	-2.69	5.35	5.35	0.76521	.	0.199992	0.43110	D	0.000605	D	0.88573	0.6473	L	0.38175	1.15	0.54753	D	0.999982	P	0.46395	0.877	P	0.45037	0.467	D	0.87012	0.2123	9	.	.	.	.	19.2539	0.93938	0.0:0.0:1.0:0.0	.	2545	Q6N022	TEN4_HUMAN	F	2545	ENSP00000278550:S2545F	.	S	-	2	0	ODZ4	78047427	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	6.527000	0.73803	2.780000	0.95670	0.655000	0.94253	TCC		0.537	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			37	85	0	0	0	0.004289	0	37	85				
TENM4	26011	broad.mit.edu	37	11	78380866	78380866	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:78380866C>A	ENST00000278550.7	-	32	6986	c.6524G>T	c.(6523-6525)cGa>cTa	p.R2175L		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2175					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.R2175L(4)|p.R2175Q(1)									CTTCACTACTCGCCCCATGTT	0.498																																							uc001ozl.3		NA																	5	Substitution - Missense(5)		lung(4)|skin(1)	ovary(2)|pancreas(2)	4						c.(6523-6525)CGA>CTA		odz, odd Oz/ten-m homolog 4							80.0	83.0	82.0					11																	78380866		2086	4222	6308	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78380866C>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.6524G>T	11.37:g.78380866C>A	ENSP00000278550:p.Arg2175Leu					ODZ4_uc001ozk.3_Missense_Mutation_p.R400L|ODZ4_uc009yvb.1_Missense_Mutation_p.R759L	p.R2175L	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			32	6987	-			2175			YD 17.|Extracellular (Potential).		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.6524G>T	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468615	0.84533	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.93763	-3.28;0.11	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.96589	0.8887	M	0.77103	2.36	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	D	0.96137	0.9097	9	.	.	.	.	18.8078	0.92045	0.0:1.0:0.0:0.0	.	2175	Q6N022	TEN4_HUMAN	L	2175;639	ENSP00000278550:R2175L;ENSP00000431711:R639L	.	R	-	2	0	ODZ4	78058514	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	7.651000	0.83577	2.677000	0.91161	0.655000	0.94253	CGA		0.498	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			15	46	1	0	1.15088e-07	0.004007	1.32393e-07	15	46				
DDIAS	220042	broad.mit.edu	37	11	82645123	82645123	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:82645123G>T	ENST00000533655.1	+	6	2955	c.2743G>T	c.(2743-2745)Ggt>Tgt	p.G915C	C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000329143.3_Missense_Mutation_p.G614C|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.G915C	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		915					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.G915C(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						AACCAATAAAGGTTTAATTAA	0.343																																							uc001ozt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2743-2745)GGT>TGT		nitric oxide-inducible gene protein							35.0	37.0	36.0					11																	82645123		2202	4299	6501	SO:0001583	missense	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82645123G>T																												ENST00000533655.1:c.2743G>T	11.37:g.82645123G>T	ENSP00000435421:p.Gly915Cys					C11orf82_uc010rsr.1_Missense_Mutation_p.G614C|C11orf82_uc010rss.1_Missense_Mutation_p.G614C|C11orf82_uc009yvd.2_Intron	p.G915C	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN			6	2987	+			915					Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	c.2743G>T	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	G	3.502	-0.101596	0.06967	.	.	ENSG00000165490	ENST00000430323;ENST00000533655;ENST00000329143	T;T;T	0.18338	2.49;2.49;2.22	5.73	-4.66	0.03329	.	1.745760	0.02561	N	0.096747	T	0.07098	0.0180	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26087	-1.0113	9	.	.	.	2.5782	3.4047	0.07336	0.1111:0.2505:0.4512:0.1872	.	915	Q8IXT1	NOXIN_HUMAN	C	915;915;614	ENSP00000414687:G915C;ENSP00000435421:G915C;ENSP00000329930:G614C	.	G	+	1	0	C11orf82	82322771	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.031000	0.12287	-0.361000	0.08125	-0.262000	0.10625	GGT		0.343	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			18	57	1	0	2.35188e-11	0.006122	3.10433e-11	18	57				
FAT3	120114	broad.mit.edu	37	11	92620173	92620173	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:92620173G>A	ENST00000298047.6	+	24	12962	c.12945G>A	c.(12943-12945)ggG>ggA	p.G4315G	FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000525166.1_Silent_p.G4165G|FAT3_ENST00000409404.2_Silent_p.G4315G|FAT3_ENST00000533797.1_Silent_p.G650G			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4315					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G4315G(4)|p.G890G(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAGACAAAGGGGTTGATGACC	0.493										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	6	Substitution - coding silent(6)		lung(6)	ovary(4)|pancreas(1)	5						c.(12943-12945)GGG>GGA		FAT tumor suppressor homolog 3							42.0	44.0	44.0					11																	92620173		1898	4115	6013	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92620173G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12945G>A	11.37:g.92620173G>A		TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Silent_p.G755G	p.G4315G	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			24	12962	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4315			Cytoplasmic (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.12945G>A																																																																																					0.493	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		8	14	0	0	0	0.00308	0	8	14				
GPR83	10888	broad.mit.edu	37	11	94134234	94134234	+	Silent	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:94134234G>C	ENST00000243673.2	-	1	351	c.180C>G	c.(178-180)cgC>cgG	p.R60R	GPR83_ENST00000539203.2_Silent_p.R60R	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	60					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)	p.R60R(2)		NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CAGCGCCGTAGCGCCTCCTGC	0.582																																							uc001pet.2		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(178-180)CGC>CGG		G protein-coupled receptor 83 precursor							83.0	83.0	83.0					11																	94134234		2201	4298	6499	SO:0001819	synonymous_variant	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94134234G>C	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.180C>G	11.37:g.94134234G>C							p.R60R	NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN			1	352	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	60			Extracellular (Potential).		B0M0K5|Q6NWR4|Q9P1Y8	Silent	SNP	ENST00000243673.2	37	c.180C>G	CCDS8297.1																																																																																				0.582	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		21	60	0	0	0	0.010504	0	21	60				
CNTN5	53942	broad.mit.edu	37	11	99941253	99941253	+	Silent	SNP	G	G	T	rs367915776		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:99941253G>T	ENST00000524871.1	+	11	1550	c.1260G>T	c.(1258-1260)acG>acT	p.T420T	CNTN5_ENST00000418526.2_Silent_p.T346T|CNTN5_ENST00000279463.3_Silent_p.T420T|CNTN5_ENST00000528682.1_Silent_p.T420T|CNTN5_ENST00000527185.1_Silent_p.T420T	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	420	Ig-like C2-type 4.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.T420T(4)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCAGACCCACGTATCGTTGGC	0.478																																							uc001pga.2		NA																	4	Substitution - coding silent(4)		lung(4)	skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(1258-1260)ACG>ACT		contactin 5 isoform long							99.0	97.0	98.0					11																	99941253		1900	4108	6008	SO:0001819	synonymous_variant	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99941253G>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.1260G>T	11.37:g.99941253G>T						CNTN5_uc009ywv.1_Silent_p.T420T|CNTN5_uc001pfz.2_Silent_p.T420T|CNTN5_uc001pgb.2_Silent_p.T346T	p.T420T	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	11	1599	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	420			Ig-like C2-type 4.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	ENST00000524871.1	37	c.1260G>T	CCDS53696.1																																																																																				0.478	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		11	42	1	0	3.07112e-06	0.000978	3.42297e-06	11	42				
CNTN5	53942	broad.mit.edu	37	11	99945012	99945012	+	Silent	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:99945012T>C	ENST00000524871.1	+	13	1856	c.1566T>C	c.(1564-1566)gtT>gtC	p.V522V	CNTN5_ENST00000418526.2_Silent_p.V448V|CNTN5_ENST00000279463.3_Silent_p.V522V|CNTN5_ENST00000528682.1_Silent_p.V522V|CNTN5_ENST00000527185.1_Silent_p.V522V	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	522	Ig-like C2-type 5.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.V522V(4)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACAGAGCAGTTAGAGAAAACA	0.363																																							uc001pga.2		NA																	4	Substitution - coding silent(4)		lung(4)	skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(1564-1566)GTT>GTC		contactin 5 isoform long							59.0	59.0	59.0					11																	99945012		1820	4077	5897	SO:0001819	synonymous_variant	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99945012T>C	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.1566T>C	11.37:g.99945012T>C						CNTN5_uc009ywv.1_Silent_p.V522V|CNTN5_uc001pfz.2_Silent_p.V522V|CNTN5_uc001pgb.2_Silent_p.V448V	p.V522V	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	13	1905	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	522			Ig-like C2-type 5.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	ENST00000524871.1	37	c.1566T>C	CCDS53696.1																																																																																				0.363	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		4	16	0	0	0	0.000602	0	4	16				
DYNC2H1	79659	broad.mit.edu	37	11	103128358	103128358	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:103128358C>T	ENST00000375735.2	+	69	10627	c.10483C>T	c.(10483-10485)Ctg>Ttg	p.L3495L	DYNC2H1_ENST00000398093.3_Silent_p.L3502L|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3495					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.L935L(2)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTATCTCCCCCTGGCTGAGAG	0.423																																							uc001pho.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(10483-10485)CTG>TTG		dynein, cytoplasmic 2, heavy chain 1							127.0	118.0	121.0					11																	103128358		1876	4112	5988	SO:0001819	synonymous_variant	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103128358C>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.10483C>T	11.37:g.103128358C>T						DYNC2H1_uc001phn.1_Silent_p.L3502L|DYNC2H1_uc009yxe.1_Intron	p.L3495L	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	69	10627	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	3495					O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	c.10483C>T	CCDS53701.1																																																																																				0.423	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		12	68	0	0	0	0.001855	0	12	68				
DDI1	414301	broad.mit.edu	37	11	103908255	103908255	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:103908255C>A	ENST00000302259.3	+	1	948	c.705C>A	c.(703-705)ccC>ccA	p.P235P	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	235							aspartic-type endopeptidase activity (GO:0004190)	p.P235P(6)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		AAGAGGCCCCCGAGAGTTTTG	0.478																																							uc001phr.2		NA																	6	Substitution - coding silent(6)		lung(6)	large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5						c.(703-705)CCC>CCA		DDI1, DNA-damage inducible 1, homolog 1							114.0	128.0	124.0					11																	103908255		2202	4299	6501	SO:0001819	synonymous_variant	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908255C>A		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.705C>A	11.37:g.103908255C>A						PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	p.P235P	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	948	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	235					Q7Z4U6|Q8WTS3	Silent	SNP	ENST00000302259.3	37	c.705C>A	CCDS31660.1																																																																																				0.478	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		49	180	1	0	4.10826e-27	0.00361	7.44209e-27	49	180				
NCAM1	4684	broad.mit.edu	37	11	113102898	113102898	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:113102898C>A	ENST00000533760.1	+	10	1462	c.863C>A	c.(862-864)cCa>cAa	p.P288Q	NCAM1_ENST00000316851.7_Missense_Mutation_p.P406Q|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.P415Q	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	416	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.P415Q(4)|p.P406Q(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GCAGATGCCCCAAAGCTACAG	0.522																																							uc009yyq.1		NA																	6	Substitution - Missense(6)		lung(6)	ovary(1)	1						c.(970-972)CCA>CAA		neural cell adhesion molecule 1 isoform 3							44.0	45.0	45.0					11																	113102898		1916	4139	6055	SO:0001583	missense	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113102898C>A		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.863C>A	11.37:g.113102898C>A	ENSP00000473281:p.Pro288Gln						p.P324Q	NM_001076682	NP_001070150	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	12	1665	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	416			Ig-like C2-type 5.|Extracellular (Potential).		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37	c.971C>A		.	.	.	.	.	.	.	.	.	.	C	18.50	3.636935	0.67130	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	D;D	0.92446	-3.04;-3.04	5.51	5.51	0.81932	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	U	0.000000	D	0.96460	0.8845	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.80764	0.994;0.994;0.985;0.994	D	0.96550	0.9407	9	0.87932	D	0	-13.8795	19.7829	0.96424	0.0:1.0:0.0:0.0	.	416;406;416;406	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	Q	288;415;406	ENSP00000384055:P415Q;ENSP00000318472:P406Q	ENSP00000318472:P406Q	P	+	2	0	NCAM1	112608108	1.000000	0.71417	1.000000	0.80357	0.281000	0.26958	7.418000	0.80167	2.758000	0.94735	0.460000	0.39030	CCA		0.522	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		11	44	1	0	0.000151284	0.001855	0.000161534	11	44				
RNF26	79102	broad.mit.edu	37	11	119207086	119207086	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:119207086C>T	ENST00000311413.4	+	1	1850	c.1254C>T	c.(1252-1254)tgC>tgT	p.C418C	RP11-334E6.10_ENST00000501918.2_RNA|C1QTNF5_ENST00000525657.1_5'Flank	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	418						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.C418C(2)		cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		ACCGCAATTGCCCGCTCTGCC	0.642																																							uc001pwh.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1252-1254)TGC>TGT		ring finger protein 26							65.0	64.0	64.0					11																	119207086		2199	4295	6494	SO:0001819	synonymous_variant	79102						zinc ion binding	g.chr11:119207086C>T	AB055622	CCDS8419.1	11q23	2008-07-21				ENSG00000173456		"""RING-type (C3HC4) zinc fingers"""	14646	protein-coding gene	gene with protein product	"""ring finger protein with leucine zipper"""	606130				11352657	Standard	NM_032015		Approved	MGC2642	uc001pwh.3	Q9BY78		ENST00000311413.4:c.1254C>T	11.37:g.119207086C>T							p.C418C	NM_032015	NP_114404	Q9BY78	RNF26_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)	1	1850	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	418			RING-type.		Q542Y8	Silent	SNP	ENST00000311413.4	37	c.1254C>T	CCDS8419.1																																																																																				0.642	RNF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388220.1	NM_032015		33	130	0	0	0	0.003755	0	33	130				
TRIM29	23650	broad.mit.edu	37	11	119996441	119996441	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:119996441C>A	ENST00000341846.5	-	4	1712	c.1291G>T	c.(1291-1293)Gac>Tac	p.D431Y	TRIM29_ENST00000528870.1_5'Flank|TRIM29_ENST00000529044.1_Missense_Mutation_p.D170Y|TRIM29_ENST00000541857.1_Missense_Mutation_p.D164Y|TRIM29_ENST00000524816.3_5'Flank	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	431					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.D431Y(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CGGCTCAGGTCCGCCTTGCAC	0.562																																							uc001pwz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|kidney(1)|skin(1)	4						c.(1291-1293)GAC>TAC		tripartite motif protein TRIM29							93.0	85.0	87.0					11																	119996441		2199	4295	6494	SO:0001583	missense	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:119996441C>A	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.1291G>T	11.37:g.119996441C>A	ENSP00000343129:p.Asp431Tyr					TRIM29_uc001pwy.2_5'Flank|TRIM29_uc010rzi.1_Missense_Mutation_p.D170Y|TRIM29_uc010rzj.1_Missense_Mutation_p.D164Y|TRIM29_uc001pxa.2_RNA	p.D431Y	NM_012101	NP_036233	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	4	1415	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	431					Q96AA9|Q9BZY7	Missense_Mutation	SNP	ENST00000341846.5	37	c.1291G>T	CCDS8428.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629666	0.67015	.	.	ENSG00000137699	ENST00000341846;ENST00000541857;ENST00000529044	T	0.43294	0.95	4.54	4.54	0.55810	.	0.302095	0.29660	N	0.011540	T	0.42720	0.1215	N	0.14661	0.345	0.50313	D	0.999865	P;D;P	0.63046	0.891;0.992;0.828	B;P;B	0.60345	0.444;0.873;0.34	T	0.28522	-1.0041	9	.	.	.	.	16.0374	0.80640	0.0:1.0:0.0:0.0	.	164;170;431	B7Z8U9;E9PRL4;Q14134	.;.;TRI29_HUMAN	Y	431;164;170	ENSP00000343129:D431Y	.	D	-	1	0	TRIM29	119501651	0.997000	0.39634	0.126000	0.21872	0.997000	0.91878	4.556000	0.60775	2.518000	0.84900	0.655000	0.94253	GAC		0.562	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		21	81	1	0	1.55795e-14	0.001882	2.26924e-14	21	81				
OR8D4	338662	broad.mit.edu	37	11	123777159	123777159	+	Silent	SNP	C	C	T	rs207472447		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:123777159C>T	ENST00000321355.2	+	1	51	c.21C>T	c.(19-21)tcC>tcT	p.S7S		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S7S(2)		large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		AAAACCATTCCACAGTGACTG	0.388																																							uc010saa.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(19-21)TCC>TCT		olfactory receptor, family 8, subfamily D,							66.0	63.0	64.0					11																	123777159		2202	4299	6501	SO:0001819	synonymous_variant	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777159C>T	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.21C>T	11.37:g.123777159C>T							p.S7S	NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	21	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	7			Extracellular (Potential).		Q6IFE9	Silent	SNP	ENST00000321355.2	37	c.21C>T	CCDS31698.1																																																																																				0.388	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		27	94	0	0	0	0.004656	0	27	94				
OR4D5	219875	broad.mit.edu	37	11	123811224	123811224	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:123811224C>T	ENST00000307033.2	+	1	975	c.901C>T	c.(901-903)Ctg>Ttg	p.L301L		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L301L(2)|p.L301M(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CATGAAGAAGCTGTGGAGGAG	0.493																																							uc001pzk.1		NA																	3	Substitution - coding silent(2)|Substitution - Missense(1)		lung(2)|large_intestine(1)	ovary(1)	1						c.(901-903)CTG>TTG		olfactory receptor, family 4, subfamily D,							85.0	84.0	85.0					11																	123811224		2202	4299	6501	SO:0001819	synonymous_variant	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123811224C>T	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.901C>T	11.37:g.123811224C>T							p.L301L	NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	901	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	301			Cytoplasmic (Potential).		B9EGZ4|Q6IFE6	Silent	SNP	ENST00000307033.2	37	c.901C>T	CCDS31699.1																																																																																				0.493	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		31	150	0	0	0	0.002096	0	31	150				
OR10S1	219873	broad.mit.edu	37	11	123848164	123848164	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:123848164G>A	ENST00000531945.1	-	1	324	c.235C>T	c.(235-237)Ctc>Ttc	p.L79F		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L79F(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGGAAGGAGAGGTGCCCCAGG	0.557																																							uc001pzm.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(235-237)CTC>TTC		olfactory receptor, family 10, subfamily S,							90.0	74.0	79.0					11																	123848164		2202	4299	6501	SO:0001583	missense	219873				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123848164G>A	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.235C>T	11.37:g.123848164G>A	ENSP00000431914:p.Leu79Phe						p.L79F	NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	235	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	79			Helical; Name=2; (Potential).		B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	c.235C>T	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967246	0.74131	.	.	ENSG00000196248	ENST00000531945	T	0.00354	7.93	4.84	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34507	U	0.003919	T	0.00724	0.0024	M	0.76002	2.32	0.34768	D	0.733439	D	0.89917	1.0	D	0.91635	0.999	T	0.66110	-0.6005	10	0.87932	D	0	-19.1139	13.337	0.60522	0.0789:0.0:0.9211:0.0	.	79	Q8NGN2	O10S1_HUMAN	F	79	ENSP00000431914:L79F	ENSP00000431914:L79F	L	-	1	0	OR10S1	123353374	0.997000	0.39634	1.000000	0.80357	0.987000	0.75469	0.368000	0.20399	2.544000	0.85801	0.638000	0.83543	CTC		0.557	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		15	53	0	0	0	0.00245	0	15	53				
OR10G8	219869	broad.mit.edu	37	11	123900722	123900722	+	Nonsense_Mutation	SNP	C	C	A	rs543177104		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:123900722C>A	ENST00000431524.1	+	1	426	c.393C>A	c.(391-393)taC>taA	p.Y131*		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y131*(2)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CGCTCAGGTACACCAGCATGA	0.542																																							uc001pzp.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)|skin(1)	2						c.(391-393)TAC>TAA		olfactory receptor, family 10, subfamily G,							156.0	146.0	149.0					11																	123900722		2201	4299	6500	SO:0001587	stop_gained	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900722C>A	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.393C>A	11.37:g.123900722C>A	ENSP00000389072:p.Tyr131*						p.Y131*	NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	393	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	131			Cytoplasmic (Potential).		B2RNJ3|Q6IEV2	Nonsense_Mutation	SNP	ENST00000431524.1	37	c.393C>A	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577327	0.45902	.	.	ENSG00000234560	ENST00000431524	.	.	.	3.04	-0.143	0.13444	.	0.000000	0.42548	D	0.000697	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.8137	0.29247	0.0:0.6879:0.0:0.3121	.	.	.	.	X	131	.	ENSP00000389072:Y131X	Y	+	3	2	OR10G8	123405932	0.000000	0.05858	0.459000	0.27081	0.422000	0.31414	-1.202000	0.03023	-0.156000	0.11079	-0.157000	0.13467	TAC		0.542	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		58	205	1	0	1.46156e-29	0.00361	2.71629e-29	58	205				
PANX3	116337	broad.mit.edu	37	11	124489566	124489566	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:124489566A>G	ENST00000284288.2	+	4	981	c.914A>G	c.(913-915)tAt>tGt	p.Y305C		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	305					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)	p.Y305C(2)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		TTATCTGTCTATGAGATGCTC	0.443																																							uc001qah.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(913-915)TAT>TGT		pannexin 3							144.0	131.0	135.0					11																	124489566		2201	4299	6500	SO:0001583	missense	116337				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr11:124489566A>G	AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"""Ion channels / Pannexins"""	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.914A>G	11.37:g.124489566A>G	ENSP00000284288:p.Tyr305Cys						p.Y305C	NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	4	914	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	305			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000284288.2	37	c.914A>G	CCDS8447.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.971092	0.74246	.	.	ENSG00000154143	ENST00000284288	T	0.29397	1.57	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.56877	0.2015	M	0.74467	2.265	0.54753	D	0.999989	D	0.89917	1.0	D	0.87578	0.998	T	0.61797	-0.6989	10	0.87932	D	0	-14.1467	15.6093	0.76704	1.0:0.0:0.0:0.0	.	305	Q96QZ0	PANX3_HUMAN	C	305	ENSP00000284288:Y305C	ENSP00000284288:Y305C	Y	+	2	0	PANX3	123994776	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	8.757000	0.91657	2.093000	0.63338	0.459000	0.35465	TAT		0.443	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1			40	136	0	0	0	0.00874	0	40	136				
ROBO4	54538	broad.mit.edu	37	11	124754957	124754957	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:124754957C>T	ENST00000306534.3	-	17	3466	c.2981G>A	c.(2980-2982)tGt>tAt	p.C994Y	ROBO4_ENST00000533054.1_Missense_Mutation_p.C849Y|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	994					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.C994Y(2)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGGCATACGACAGTGGAGCTG	0.587																																							uc001qbg.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(2980-2982)TGT>TAT		roundabout homolog 4, magic roundabout							77.0	76.0	76.0					11																	124754957		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124754957C>T	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.2981G>A	11.37:g.124754957C>T	ENSP00000304945:p.Cys994Tyr					ROBO4_uc010sas.1_Missense_Mutation_p.C849Y	p.C994Y	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	17	3121	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	994					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.2981G>A	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	C	7.588	0.670065	0.14776	.	.	ENSG00000154133	ENST00000306534;ENST00000533054	T;T	0.64991	-0.13;0.24	4.76	1.26	0.21427	.	0.584896	0.14454	N	0.318616	T	0.48059	0.1479	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41928	-0.9481	10	0.54805	T	0.06	.	4.3924	0.11346	0.0:0.3946:0.4365:0.1689	.	994	Q8WZ75	ROBO4_HUMAN	Y	994;849	ENSP00000304945:C994Y;ENSP00000437129:C849Y	ENSP00000304945:C994Y	C	-	2	0	ROBO4	124260167	0.000000	0.05858	0.001000	0.08648	0.947000	0.59692	0.061000	0.14366	0.487000	0.27698	0.655000	0.94253	TGT		0.587	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		34	126	0	0	0	0.004289	0	34	126				
PKNOX2	63876	broad.mit.edu	37	11	125301253	125301253	+	Missense_Mutation	SNP	G	G	T	rs372201456		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:125301253G>T	ENST00000298282.9	+	13	1655	c.1384G>T	c.(1384-1386)Gac>Tac	p.D462Y	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.D398Y	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	462					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)	p.D462Y(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		AAATGTCAGCGACCTGGGCTT	0.587																																							uc001qbu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1384-1386)GAC>TAC		PBX/knotted 1 homeobox 2							50.0	57.0	55.0					11																	125301253		2164	4242	6406	SO:0001583	missense	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125301253G>T	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.1384G>T	11.37:g.125301253G>T	ENSP00000298282:p.Asp462Tyr					PKNOX2_uc010saz.1_Missense_Mutation_p.D433Y|PKNOX2_uc010sba.1_Missense_Mutation_p.D433Y|PKNOX2_uc010sbb.1_Missense_Mutation_p.D398Y|PKNOX2_uc001qbv.2_Missense_Mutation_p.D227Y	p.D462Y	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	13	1698	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	462					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	c.1384G>T	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247347	0.59103	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175	D;D;D;D	0.85484	-1.98;-1.98;-1.99;-1.97	4.56	4.56	0.56223	.	0.576707	0.19581	N	0.110868	D	0.88876	0.6556	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.74023	0.982;0.964;0.959	D	0.89551	0.3799	10	0.59425	D	0.04	-20.4321	17.4841	0.87682	0.0:0.0:1.0:0.0	.	398;433;462	F5GZ15;B7Z3G7;Q96KN3	.;.;PKNX2_HUMAN	Y	433;433;462;398	ENSP00000434732:D433Y;ENSP00000433971:D433Y;ENSP00000298282:D462Y;ENSP00000441470:D398Y	ENSP00000298282:D462Y	D	+	1	0	PKNOX2	124806463	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.783000	0.75078	2.517000	0.84864	0.655000	0.94253	GAC		0.587	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			15	53	1	0	6.31663e-08	0.003163	7.34145e-08	15	53				
STT3A	3703	broad.mit.edu	37	11	125482978	125482978	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:125482978C>G	ENST00000529196.1	+	14	1666	c.1460C>G	c.(1459-1461)tCc>tGc	p.S487C	STT3A_ENST00000392708.4_Missense_Mutation_p.S487C|STT3A_ENST00000531491.1_Missense_Mutation_p.S395C			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	487					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)	p.S487C(2)		NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TCTTCTCCGTCCATTGTACTA	0.473																																							uc001qcd.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1459-1461)TCC>TGC		integral membrane protein 1							211.0	191.0	198.0					11																	125482978		2201	4299	6500	SO:0001583	missense	3703				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	g.chr11:125482978C>G	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"""dolichyl-diphosphooligosaccharide protein glycotransferase"""	601134	"""integral membrane protein 1"", ""STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)"", ""STT3A, cataylic subunit of the oligosaccharyltransferase complex"""	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.1460C>G	11.37:g.125482978C>G	ENSP00000436962:p.Ser487Cys					STT3A_uc001qce.2_Missense_Mutation_p.S487C|STT3A_uc010sbg.1_Missense_Mutation_p.S395C|STT3A_uc009zbn.2_Missense_Mutation_p.S209C	p.S487C	NM_152713	NP_689926	P46977	STT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)	13	1570	+	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	487			Lumenal (Potential).		B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Missense_Mutation	SNP	ENST00000529196.1	37	c.1460C>G	CCDS8458.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965161	0.74131	.	.	ENSG00000134910	ENST00000392708;ENST00000529196;ENST00000531491	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.89983	0.6873	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92372	0.5906	9	0.87932	D	0	-16.7616	19.8035	0.96518	0.0:1.0:0.0:0.0	.	395;487	B4DJ24;P46977	.;STT3A_HUMAN	C	487;487;395	.	ENSP00000376472:S487C	S	+	2	0	STT3A	124988188	1.000000	0.71417	1.000000	0.80357	0.532000	0.34746	6.022000	0.70839	2.771000	0.95319	0.563000	0.77884	TCC		0.473	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		60	226	0	0	0	0.00361	0	60	226				
CACNA2D4	93589	broad.mit.edu	37	12	1969334	1969334	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:1969334C>G	ENST00000382722.5	-	19	2279	c.1917G>C	c.(1915-1917)acG>acC	p.T639T	CACNA2D4_ENST00000587995.1_Silent_p.T614T|CACNA2D4_ENST00000588077.1_Silent_p.T575T|CACNA2D4_ENST00000586184.1_Silent_p.T639T|CACNA2D4_ENST00000585708.1_Silent_p.T575T|CACNA2D4_ENST00000585732.1_Silent_p.T500T|CACNA2D4_ENST00000539048.2_5'UTR	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	639					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.T639T(4)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CGCTGATGTCCGTGAAGAAGT	0.502																																					Colon(2;101 179 21030 23310 28141)	Colon(2;101 179 21030 23310 28141)	uc001qjp.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)	1						c.(1915-1917)ACG>ACC		voltage-gated calcium channel alpha(2)delta-4							67.0	69.0	69.0					12																	1969334		1973	4167	6140	SO:0001819	synonymous_variant	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1969334C>G	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1917G>C	12.37:g.1969334C>G						CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Silent_p.T503T	p.T639T	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	19	2148	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	639			Extracellular (Potential).		Q7Z3S8|Q86XZ5|Q8IZS9	Silent	SNP	ENST00000382722.5	37	c.1917G>C	CCDS44785.1																																																																																				0.502	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			9	14	0	0	0	0.001368	0	9	14				
CD163L1	283316	broad.mit.edu	37	12	7559189	7559189	+	Silent	SNP	T	T	C	rs376908493		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:7559189T>C	ENST00000313599.3	-	5	1083	c.1026A>G	c.(1024-1026)agA>agG	p.R342R	CD163L1_ENST00000416109.2_Silent_p.R352R|CD163L1_ENST00000396630.1_Silent_p.R342R			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	342	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.R342R(2)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTCCGGAATGTCTGCAGTCCC	0.433																																							uc001qsy.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(1024-1026)AGA>AGG		scavenger receptor cysteine-rich type 1		T		0,4406		0,0,2203	124.0	107.0	113.0		1026	1.8	0.0	12		113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CD163L1	NM_174941.4		0,1,6502	CC,CT,TT		0.0116,0.0,0.0077		342/1454	7559189	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7559189T>C	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.1026A>G	12.37:g.7559189T>C						CD163L1_uc010sge.1_Silent_p.R352R	p.R342R	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			5	1052	-			342			SRCR 3.|Extracellular (Potential).		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	c.1026A>G	CCDS8577.1																																																																																				0.433	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		23	93	0	0	0	0.001882	0	23	93				
SLC2A3	6515	broad.mit.edu	37	12	8075422	8075422	+	Missense_Mutation	SNP	C	C	A	rs201737691		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:8075422C>A	ENST00000075120.7	-	9	1507	c.1267G>T	c.(1267-1269)Gct>Tct	p.A423S		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	423					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.A423S(2)		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)		CTTACAGCAGCGGAGGGGAAG	0.547																																					Colon(96;424 1461 14416 20933 23688)	Colon(96;424 1461 14416 20933 23688)	uc001qtr.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|pancreas(1)	4						c.(1267-1269)GCT>TCT		solute carrier family 2 (facilitated glucose							46.0	47.0	47.0					12																	8075422		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.chr12:8075422C>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.1267G>T	12.37:g.8075422C>A	ENSP00000075120:p.Ala423Ser						p.A423S	NM_006931	NP_008862	P11169	GTR3_HUMAN		Kidney(36;0.0866)	9	1529	-			423			Extracellular (Potential).		B2R606|D3DUU6|Q6I9U2|Q9UG15	Missense_Mutation	SNP	ENST00000075120.7	37	c.1267G>T	CCDS8586.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831300	0.32329	.	.	ENSG00000059804	ENST00000075120;ENST00000540978	T	0.81078	-1.45	4.34	4.34	0.51931	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.119065	0.56097	D	0.000022	D	0.88012	0.6323	M	0.73319	2.225	0.33527	D	0.593136	D	0.56968	0.978	D	0.69479	0.964	D	0.91878	0.5513	10	0.87932	D	0	.	14.7219	0.69314	0.0:1.0:0.0:0.0	.	423	P11169	GTR3_HUMAN	S	423;349	ENSP00000075120:A423S	ENSP00000075120:A423S	A	-	1	0	SLC2A3	7966689	0.944000	0.32072	0.938000	0.37757	0.037000	0.13140	2.007000	0.40883	2.398000	0.81561	0.655000	0.94253	GCT		0.547	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		23	63	1	0	6.44725e-10	0.002299	7.9881e-10	23	63				
A2M	2	broad.mit.edu	37	12	9225296	9225296	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:9225296C>A	ENST00000318602.7	-	30	4235	c.3928G>T	c.(3928-3930)Ggg>Tgg	p.G1310W		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1310					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.G1310W(2)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	CTGTATTCCCCAGGCAGCTCT	0.517																																							uc001qvk.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(4)|skin(1)	5						c.(3928-3930)GGG>TGG		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						188.0	191.0	190.0					12																	9225296		2162	4292	6454	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9225296C>A	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3928G>T	12.37:g.9225296C>A	ENSP00000323929:p.Gly1310Trp					A2M_uc001qvj.1_Missense_Mutation_p.G352W|A2M_uc009zgk.1_Missense_Mutation_p.G1160W	p.G1310W	NM_000014	NP_000005	P01023	A2MG_HUMAN			30	4041	-			1310					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.3928G>T	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.794988	0.90453	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.35421	1.31	5.98	5.98	0.97165	.	0.256397	0.37437	N	0.002085	T	0.71467	0.3343	M	0.93062	3.375	0.49483	D	0.999791	D	0.89917	1.0	D	0.83275	0.996	T	0.77395	-0.2604	10	0.87932	D	0	.	20.0532	0.97636	0.0:1.0:0.0:0.0	.	1310	P01023	A2MG_HUMAN	W	1310;1325	ENSP00000323929:G1310W	ENSP00000323929:G1310W	G	-	1	0	A2M	9116563	0.951000	0.32395	0.349000	0.25694	0.988000	0.76386	7.476000	0.81055	2.835000	0.97688	0.650000	0.86243	GGG		0.517	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		51	154	1	0	2.23044e-30	0.00361	4.20475e-30	51	154				
PZP	5858	broad.mit.edu	37	12	9302192	9302192	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:9302192G>T	ENST00000261336.2	-	35	4419	c.4391C>A	c.(4390-4392)tCt>tAt	p.S1464Y	PZP_ENST00000381997.2_Missense_Mutation_p.S1250Y	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1464					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S1250Y(2)|p.S1464Y(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AGCAACCACAGACTCATCTGA	0.463																																					Melanoma(125;1402 1695 4685 34487 38571)	Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(4390-4392)TCT>TAT		pregnancy-zone protein precursor							152.0	133.0	139.0					12																	9302192		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9302192G>T	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.4391C>A	12.37:g.9302192G>T	ENSP00000261336:p.Ser1464Tyr					PZP_uc009zgl.2_Missense_Mutation_p.S1250Y	p.S1464Y	NM_002864	NP_002855					35	4420	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.4391C>A	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	G	3.295	-0.144057	0.06627	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.23950	1.88;1.88	3.94	-3.18	0.05186	Alpha-macroglobulin, receptor-binding (3);	0.875360	0.09796	U	0.754691	T	0.12092	0.0294	N	0.21617	0.685	0.09310	N	1	B;B	0.34241	0.444;0.004	B;B	0.32149	0.141;0.021	T	0.33752	-0.9856	10	0.12430	T	0.62	.	6.6805	0.23117	0.7065:0.0:0.1658:0.1277	.	1250;1464	P20742-2;P20742	.;PZP_HUMAN	Y	1464;1250	ENSP00000261336:S1464Y;ENSP00000371427:S1250Y	ENSP00000261336:S1464Y	S	-	2	0	PZP	9193459	0.000000	0.05858	0.003000	0.11579	0.032000	0.12392	-0.052000	0.11865	-0.465000	0.06953	-0.379000	0.06801	TCT		0.463	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		30	70	1	0	1.06801e-11	0.009535	1.43372e-11	30	70				
MANSC1	54682	broad.mit.edu	37	12	12491436	12491436	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:12491436G>A	ENST00000535902.1	-	3	845	c.282C>T	c.(280-282)aaC>aaT	p.N94N	MANSC1_ENST00000545735.1_Silent_p.N13N|MANSC1_ENST00000396349.3_Silent_p.N60N			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	94	MANSC. {ECO:0000255|PROSITE- ProRule:PRU00341}.					integral component of membrane (GO:0016021)		p.N94N(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		ATAGGTAGCAGTTGGGTTGTC	0.393																																							uc001rai.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(280-282)AAC>AAT		MANSC domain containing 1 precursor							178.0	174.0	175.0					12																	12491436		2203	4300	6503	SO:0001819	synonymous_variant	54682					integral to membrane		g.chr12:12491436G>A	AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.282C>T	12.37:g.12491436G>A						MANSC1_uc010shm.1_Silent_p.N28N|MANSC1_uc001raj.1_Silent_p.N60N|MANSC1_uc009zht.1_Silent_p.N13N	p.N94N	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.185)	3	540	-		Prostate(47;0.0865)	94			MANSC.|Extracellular (Potential).		Q8NEC1|Q9NW60	Silent	SNP	ENST00000535902.1	37	c.282C>T	CCDS8648.1																																																																																				0.393	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	NM_018050		34	88	0	0	0	0.002836	0	34	88				
PIK3C2G	5288	broad.mit.edu	37	12	18499667	18499667	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:18499667G>T	ENST00000266497.5	+	10	1560	c.1522G>T	c.(1522-1524)Gta>Tta	p.V508L	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.V508L|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.V508L|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.V508L			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	508	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.V508L(4)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TTTTCAGCCTGTAAATGTACC	0.438																																							uc001rdt.2		NA																	4	Substitution - Missense(4)		lung(4)	lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21						c.(1522-1524)GTA>TTA		phosphoinositide-3-kinase, class 2 gamma							164.0	160.0	161.0					12																	18499667		1942	4133	6075	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18499667G>T	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.1522G>T	12.37:g.18499667G>T	ENSP00000266497:p.Val508Leu					PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.V508L|PIK3C2G_uc010sic.1_Missense_Mutation_p.V286L	p.V508L	NM_004570	NP_004561	O75747	P3C2G_HUMAN			11	1638	+		Hepatocellular(102;0.194)	508					A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.1522G>T	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	G	4.700	0.130138	0.08981	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.60920	1.52;0.15;0.15;0.18	3.98	2.15	0.27550	Phosphoinositide 3-kinase, C2 (1);	9.657640	0.00166	N	0.000002	T	0.29256	0.0728	N	0.01267	-0.92	0.21386	N	0.999705	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.09377	0.001;0.003;0.004	T	0.30592	-0.9973	10	0.15499	T	0.54	-2.3165	6.6532	0.22973	0.1144:0.2643:0.6212:0.0	.	507;508;508	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	L	508	ENSP00000443850:V508L;ENSP00000404845:V508L;ENSP00000266497:V508L;ENSP00000445381:V508L	ENSP00000266497:V508L	V	+	1	0	PIK3C2G	18390934	0.919000	0.31177	0.696000	0.30242	0.719000	0.41307	1.063000	0.30567	0.636000	0.30508	0.555000	0.69702	GTA		0.438	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		29	74	1	0	1.80694e-10	0.009535	2.29657e-10	29	74				
PDE3A	5139	broad.mit.edu	37	12	20801732	20801733	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:20801732_20801733GG>TT	ENST00000359062.3	+	13	2716_2717	c.2676_2677GG>TT	c.(2674-2679)gtGGaa>gtTTaa	p.E893*	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	893	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.E893*(2)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	TTGACCATGTGGAATTTAAGCA	0.401																																							uc001reh.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(2674-2679)GTGGAA>GTTTAA		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)																																			SO:0001587	stop_gained	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20801732_20801733GG>TT		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	Exception_encountered	12.37:g.20801732_20801733delinsTT	ENSP00000351957:p.Glu893*						p.E893*	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			13	2698_2699	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	893			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Nonsense_Mutation	DNP	ENST00000359062.3	37	c.2676_2677GG>TT	CCDS31754.1																																																																																				0.401	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			35	103	0	0	0	0.004672	0	35	103				
SLCO1B1	10599	broad.mit.edu	37	12	21355423	21355423	+	Splice_Site	SNP	A	A	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:21355423A>C	ENST00000256958.2	+	10	1231		c.e10-1			NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1						bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.?(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TTTTTTTTCTAGGAGTCATAA	0.269																																							uc001req.3		NA																	2	Unknown(2)		lung(2)	ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.e10-2		solute carrier organic anion transporter family,	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						30.0	32.0	32.0					12																	21355423		2203	4290	6493	SO:0001630	splice_region_variant	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21355423A>C		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1136-1A>C	12.37:g.21355423A>C							p.G379_splice	NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN			10	1240	+								B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Splice_Site	SNP	ENST00000256958.2	37	c.1136_splice	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	A	11.45	1.642549	0.29246	.	.	ENSG00000134538	ENST00000256958	.	.	.	3.23	3.23	0.37069	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.4116	0.38496	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLCO1B1	21246690	1.000000	0.71417	0.903000	0.35520	0.012000	0.07955	6.606000	0.74159	1.455000	0.47813	0.397000	0.26171	.		0.269	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446	Intron	13	25	0	0	0	0.001368	0	13	25				
CASC1	55259	broad.mit.edu	37	12	25261485	25261485	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:25261485G>T	ENST00000320267.9	-	15	2229	c.2148C>A	c.(2146-2148)tcC>tcA	p.S716S	CASC1_ENST00000545133.1_Silent_p.S657S|CASC1_ENST00000354189.5_3'UTR|CASC1_ENST00000395990.2_Silent_p.S676S|CASC1_ENST00000537577.1_3'UTR|CASC1_ENST00000395987.3_Silent_p.S722S	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	716								p.S722S(2)		breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			GTGGAGGTTAGGAGTAGCTGA	0.418																																							uc001rgl.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(2146-2148)TCC>TCA		cancer susceptibility candidate 1 isoform b							61.0	56.0	58.0					12																	25261485		2203	4300	6503	SO:0001819	synonymous_variant	55259							g.chr12:25261485G>T	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.2148C>A	12.37:g.25261485G>T						CASC1_uc001rgk.2_Silent_p.S722S|CASC1_uc001rgm.3_3'UTR|CASC1_uc001rgj.2_Silent_p.S676S|CASC1_uc010sje.1_Silent_p.S657S|CASC1_uc010sjf.1_3'UTR	p.S716S	NM_001082973	NP_001076442	Q6TDU7	CASC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)		15	2230	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		716					B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Silent	SNP	ENST00000320267.9	37	c.2148C>A	CCDS41762.1	.	.	.	.	.	.	.	.	.	.	G	3.931	-0.016103	0.07681	.	.	ENSG00000118307	ENST00000556006	.	.	.	5.76	-4.55	0.03441	.	.	.	.	.	T	0.38532	0.1044	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37911	-0.9685	4	.	.	.	-18.1154	2.34	0.04257	0.268:0.3425:0.2779:0.1116	.	.	.	.	I	553	.	.	L	-	1	2	CASC1	25152752	0.473000	0.25878	0.028000	0.17463	0.007000	0.05969	-0.328000	0.07945	-0.702000	0.05056	-1.005000	0.02491	CTA		0.418	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		12	25	1	0	4.36969e-10	0.001855	5.43968e-10	12	25				
CNTN1	1272	broad.mit.edu	37	12	41422935	41422935	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:41422935C>G	ENST00000551295.2	+	23	3011	c.2894C>G	c.(2893-2895)cCa>cGa	p.P965R	CNTN1_ENST00000347616.1_Missense_Mutation_p.P965R|CNTN1_ENST00000348761.2_Missense_Mutation_p.P954R	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	965	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.P965R(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				ATAGAAGTCCCAATCCCCAGA	0.448																																							uc001rmm.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(2893-2895)CCA>CGA		contactin 1 isoform 1 precursor							194.0	181.0	186.0					12																	41422935		2203	4300	6503	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41422935C>G	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2894C>G	12.37:g.41422935C>G	ENSP00000447006:p.Pro965Arg					CNTN1_uc001rmn.1_Missense_Mutation_p.P954R	p.P965R	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			23	3007	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	965			Fibronectin type-III 4.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.2894C>G	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669941	0.67814	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.52526	0.66;0.66;0.66	5.18	5.18	0.71444	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67277	0.2876	M	0.73962	2.25	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.75484	0.986;0.969	T	0.61941	-0.6959	10	0.12766	T	0.61	.	19.077	0.93167	0.0:1.0:0.0:0.0	.	954;965	Q12860-2;Q12860	.;CNTN1_HUMAN	R	965;965;954	ENSP00000447006:P965R;ENSP00000325660:P965R;ENSP00000261160:P954R	ENSP00000325660:P965R	P	+	2	0	CNTN1	39709202	1.000000	0.71417	0.995000	0.50966	0.631000	0.37964	6.947000	0.75959	2.588000	0.87417	0.591000	0.81541	CCA		0.448	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		70	147	0	0	0	0.00361	0	70	147				
ADAMTS20	80070	broad.mit.edu	37	12	43925996	43925996	+	Silent	SNP	C	C	A	rs572409221		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:43925996C>A	ENST00000389420.3	-	3	455	c.456G>T	c.(454-456)acG>acT	p.T152T	ADAMTS20_ENST00000553158.1_Silent_p.T152T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	152				T -> V (in Ref. 2; CAD56159/CAD56160). {ECO:0000305}.	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.T152T(2)|p.V152V(2)		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)		TAAATGTTCCCGTCTGAAAAT	0.353																																							uc010skx.1		NA																	4	Substitution - coding silent(4)		lung(4)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(454-456)ACG>ACT		a disintegrin-like and metalloprotease with							105.0	110.0	108.0					12																	43925996		2202	4300	6502	SO:0001819	synonymous_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43925996C>A	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.456G>T	12.37:g.43925996C>A							p.T152T	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	3	456	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	152	T -> V (in Ref. 2; CAD56159/CAD56160).				A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	c.456G>T	CCDS31778.2																																																																																				0.353	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		24	69	1	0	5.61819e-17	0.005443	8.64674e-17	24	69				
WNT1	7471	broad.mit.edu	37	12	49374219	49374219	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:49374219C>A	ENST00000293549.3	+	3	407	c.371C>A	c.(370-372)aCg>aAg	p.T124K		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	124					bone development (GO:0060348)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to peptide hormone stimulus (GO:0071375)|central nervous system morphogenesis (GO:0021551)|cerebellum formation (GO:0021588)|diencephalon development (GO:0021536)|embryonic axis specification (GO:0000578)|forebrain anterior/posterior pattern specification (GO:0021797)|hematopoietic stem cell proliferation (GO:0071425)|hepatocyte differentiation (GO:0070365)|inner ear morphogenesis (GO:0042472)|midbrain development (GO:0030901)|midbrain-hindbrain boundary maturation during brain development (GO:0022004)|myoblast fusion (GO:0007520)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell aging (GO:0090344)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|neuron fate determination (GO:0048664)|organ regeneration (GO:0031100)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dermatome development (GO:0061184)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to wounding (GO:0009611)|signal transduction in response to DNA damage (GO:0042770)|Spemann organizer formation (GO:0060061)|spinal cord association neuron differentiation (GO:0021527)|T cell differentiation in thymus (GO:0033077)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription regulatory region DNA binding (GO:0044212)	p.T124K(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		TGTCGAGAAACGGCGTTTATC	0.652																																							uc001rsu.2		NA																	2	Substitution - Missense(2)		lung(2)	kidney(1)	1						c.(370-372)ACG>AAG		wingless-type MMTV integration site family,							38.0	34.0	36.0					12																	49374219		2203	4300	6503	SO:0001583	missense	7471				brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding	g.chr12:49374219C>A	X03072	CCDS8776.1	12q13	2013-02-28				ENSG00000125084		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12774	protein-coding gene	gene with protein product		164820		INT1		2998762, 3281802	Standard	NM_005430		Approved		uc001rsu.3	P04628	OTTHUMG00000170403	ENST00000293549.3:c.371C>A	12.37:g.49374219C>A	ENSP00000293549:p.Thr124Lys						p.T124K	NM_005430	NP_005421	P04628	WNT1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.244)	3	569	+			124					Q5U0N2	Missense_Mutation	SNP	ENST00000293549.3	37	c.371C>A	CCDS8776.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212421	0.79240	.	.	ENSG00000125084	ENST00000293549	T	0.77229	-1.08	5.04	5.04	0.67666	.	0.054684	0.64402	D	0.000001	D	0.88808	0.6537	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.90015	0.4124	10	0.66056	D	0.02	.	17.3322	0.87268	0.0:1.0:0.0:0.0	.	124	P04628	WNT1_HUMAN	K	124	ENSP00000293549:T124K	ENSP00000293549:T124K	T	+	2	0	WNT1	47660486	1.000000	0.71417	0.952000	0.39060	0.307000	0.27823	5.924000	0.70054	2.630000	0.89119	0.655000	0.94253	ACG		0.652	WNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408937.1			15	32	1	0	1.5739e-10	0.004007	2.01992e-10	15	32				
KMT2D	8085	broad.mit.edu	37	12	49432243	49432243	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:49432243G>A	ENST00000301067.7	-	34	8895	c.8896C>T	c.(8896-8898)Cgg>Tgg	p.R2966W	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2966	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R2696W(2)|p.R2966W(2)									GACGGGGGCCGGTTGACCAGC	0.602																																							uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		4	Substitution - Missense(4)		lung(4)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(8896-8898)CGG>TGG		myeloid/lymphoid or mixed-lineage leukemia 2							66.0	72.0	70.0					12																	49432243		1928	4121	6049	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49432243G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.8896C>T	12.37:g.49432243G>A	ENSP00000301067:p.Arg2966Trp	HNSCC(34;0.089)					p.R2966W	NM_003482	NP_003473	O14686	MLL2_HUMAN			34	8896	-			2966			Pro-rich.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.8896C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	7.047	0.563745	0.13498	.	.	ENSG00000167548	ENST00000301067	T	0.79554	-1.28	5.73	4.78	0.61160	.	0.000000	0.35708	N	0.003039	T	0.60248	0.2254	N	0.08118	0	0.23872	N	0.99661	D	0.62365	0.991	B	0.36766	0.232	T	0.63501	-0.6623	10	0.87932	D	0	.	13.1363	0.59411	0.0:0.0:0.8402:0.1598	.	2966	O14686	MLL2_HUMAN	W	2966	ENSP00000301067:R2966W	ENSP00000301067:R2966W	R	-	1	2	MLL2	47718510	0.100000	0.21855	0.996000	0.52242	0.314000	0.28054	1.216000	0.32443	2.882000	0.98803	0.655000	0.94253	CGG		0.602	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			52	90	0	0	0	0.00361	0	52	90				
KCNH3	23416	broad.mit.edu	37	12	49949578	49949578	+	Missense_Mutation	SNP	G	G	A	rs368671377		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:49949578G>A	ENST00000257981.6	+	12	2572	c.2312G>A	c.(2311-2313)cGt>cAt	p.R771H	MCRS1_ENST00000547182.1_5'Flank	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	771					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.R771H(2)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CTATCCCCACGTCGAACAGCA	0.697																																							uc001ruh.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2311-2313)CGT>CAT		potassium voltage-gated channel, subfamily H		G	HIS/ARG	0,4406		0,0,2203	35.0	34.0	34.0		2312	4.0	0.1	12		34	1,8599	1.2+/-3.3	0,1,4299	no	missense	KCNH3	NM_012284.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	771/1084	49949578	1,13005	2203	4300	6503	SO:0001583	missense	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49949578G>A	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.2312G>A	12.37:g.49949578G>A	ENSP00000257981:p.Arg771His					KCNH3_uc010smj.1_Missense_Mutation_p.R711H	p.R771H	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN			12	2572	+			771			Cytoplasmic (Potential).		Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	c.2312G>A	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.279640	0.23307	0.0	1.16E-4	ENSG00000135519	ENST00000257981	D	0.98777	-5.13	4.87	3.98	0.46160	.	0.138729	0.34002	N	0.004350	D	0.92993	0.7770	N	0.08118	0	0.19775	N	0.999957	D	0.57257	0.979	B	0.39068	0.289	D	0.88416	0.3025	10	0.13470	T	0.59	.	9.984	0.41830	0.0967:0.0:0.9033:0.0	.	771	Q9ULD8	KCNH3_HUMAN	H	771	ENSP00000257981:R771H	ENSP00000257981:R771H	R	+	2	0	KCNH3	48235845	0.002000	0.14202	0.058000	0.19502	0.616000	0.37450	0.797000	0.26999	1.380000	0.46344	-0.137000	0.14449	CGT		0.697	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		19	26	0	0	0	0.00278	0	19	26				
FMNL3	91010	broad.mit.edu	37	12	50045837	50045837	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:50045837C>G	ENST00000293590.5	-	14	1715	c.1482G>C	c.(1480-1482)ctG>ctC	p.L494L	FMNL3_ENST00000352151.5_Silent_p.L443L|FMNL3_ENST00000335154.5_Silent_p.L494L|FMNL3_ENST00000550488.1_Silent_p.L494L			Q8IVF7	FMNL3_HUMAN	formin-like 3	494					actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)	p.L494L(4)		breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TGCCCTCACTCAGCTCTGCAG	0.652																																							uc001ruv.1		NA																	4	Substitution - coding silent(4)		lung(4)	breast(2)|pancreas(2)	4						c.(1480-1482)CTG>CTC		formin-like 3 isoform 1							24.0	29.0	27.0					12																	50045837		2082	4191	6273	SO:0001819	synonymous_variant	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50045837C>G	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1482G>C	12.37:g.50045837C>G						FMNL3_uc001ruw.1_Silent_p.L443L|FMNL3_uc001rut.1_Silent_p.L60L|FMNL3_uc001ruu.1_Silent_p.L344L	p.L494L	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN			14	1716	-			494					B0JZA7|Q6ZRJ1	Silent	SNP	ENST00000293590.5	37	c.1482G>C																																																																																					0.652	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		10	18	0	0	0	0.008291	0	10	18				
ASIC1	41	broad.mit.edu	37	12	50472204	50472204	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:50472204C>A	ENST00000447966.2	+	6	1067	c.838C>A	c.(838-840)Ctc>Atc	p.L280I	ASIC1_ENST00000228468.4_Splice_Site_p.L280I|ASIC1_ENST00000552438.1_Splice_Site_p.L314I	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	280					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)	p.L280I(2)								Amiloride(DB00594)|Diclofenac(DB00586)	CTCCCAGCAGCTCATCTACCT	0.582																																							uc001rvw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(838-840)CTC>ATC		amiloride-sensitive cation channel 2, neuronal	Amiloride(DB00594)						82.0	90.0	87.0					12																	50472204		2203	4300	6503	SO:0001630	splice_region_variant	41				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr12:50472204C>A	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.838-1C>A	12.37:g.50472204C>A						ACCN2_uc001rvv.2_Missense_Mutation_p.L280I|ACCN2_uc009zln.2_Missense_Mutation_p.L71I|ACCN2_uc009zlo.2_Missense_Mutation_p.L280I	p.L280I	NM_001095	NP_001086	P78348	ACCN2_HUMAN			6	1067	+			280			Extracellular (By similarity).		A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	ENST00000447966.2	37	c.838C>A	CCDS44876.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479731	0.84747	.	.	ENSG00000110881	ENST00000228468;ENST00000447966;ENST00000552438	T;T;T	0.64803	-0.12;-0.12;-0.12	4.07	4.07	0.47477	.	0.000000	0.64402	D	0.000015	T	0.73281	0.3567	L	0.54965	1.715	0.80722	D	1	B;B	0.31318	0.319;0.011	P;B	0.52957	0.714;0.017	T	0.70360	-0.4893	9	.	.	.	-29.9762	16.8282	0.85937	0.0:1.0:0.0:0.0	.	280;280	P78348;P78348-1	ACCN2_HUMAN;.	I	280;280;314	ENSP00000228468:L280I;ENSP00000400228:L280I;ENSP00000450247:L314I	.	L	+	1	0	ACCN2	48758471	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.003000	0.76310	2.265000	0.75225	0.462000	0.41574	CTC		0.582	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039	Missense_Mutation	55	92	1	0	1.39843e-22	0.00361	2.37492e-22	55	92				
SLC4A8	9498	broad.mit.edu	37	12	51879644	51879644	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:51879644G>C	ENST00000453097.2	+	17	2463	c.2246G>C	c.(2245-2247)gGa>gCa	p.G749A	SLC4A8_ENST00000358657.3_Missense_Mutation_p.G776A	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8									p.G749A(4)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TTTTTGATTGGAGTCCCATCA	0.418																																							uc001rys.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|pancreas(1)|skin(1)	5						c.(2245-2247)GGA>GCA		solute carrier family 4, sodium bicarbonate							197.0	159.0	171.0					12																	51879644		2203	4300	6503	SO:0001583	missense	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51879644G>C	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.2246G>C	12.37:g.51879644G>C	ENSP00000405812:p.Gly749Ala					SLC4A8_uc001rym.2_Missense_Mutation_p.G696A|SLC4A8_uc001ryn.2_Missense_Mutation_p.G696A|SLC4A8_uc001ryo.2_Missense_Mutation_p.G696A|SLC4A8_uc010snj.1_Missense_Mutation_p.G776A|SLC4A8_uc001ryr.2_Missense_Mutation_p.G749A	p.G749A	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	17	2424	+			749			Helical; (Potential).			Missense_Mutation	SNP	ENST00000453097.2	37	c.2246G>C	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.898556	0.91962	.	.	ENSG00000050438	ENST00000358657;ENST00000453097;ENST00000319957;ENST00000551071	T;T	0.79141	-1.24;-1.24	5.42	5.42	0.78866	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89406	0.6706	M	0.85197	2.74	0.80722	D	1	P;D;D	0.60575	0.69;0.988;0.975	P;D;D	0.73708	0.508;0.981;0.953	D	0.90483	0.4461	10	0.72032	D	0.01	.	18.386	0.90466	0.0:0.0:1.0:0.0	.	776;749;749	Q2Y0W8-2;Q2Y0W8;Q2Y0W8-3	.;S4A8_HUMAN;.	A	776;749;749;696	ENSP00000351483:G776A;ENSP00000405812:G749A	ENSP00000315789:G749A	G	+	2	0	SLC4A8	50165911	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.712000	0.92718	0.591000	0.81541	GGA		0.418	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		47	79	0	0	0	0.00361	0	47	79				
HOXC6	3223	broad.mit.edu	37	12	54423739	54423739	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:54423739A>C	ENST00000243108.4	+	2	865	c.701A>C	c.(700-702)aAa>aCa	p.K234T	HOXC5_ENST00000312492.2_5'Flank|RP11-834C11.12_ENST00000513209.1_Intron|RP11-834C11.14_ENST00000512206.1_RNA|HOXC4_ENST00000303406.4_Intron|HOXC6_ENST00000394331.3_Missense_Mutation_p.K152T	NM_004503.3	NP_004494.1	P09630	HXC6_HUMAN	homeobox C6	234	Glu/Lys-rich.				anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.K234T(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GAGAAGCAGAAAGAGTGACCA	0.582																																							uc001sev.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(700-702)AAA>ACA		homeobox C6 isoform 1							135.0	161.0	152.0					12																	54423739		2200	4300	6500	SO:0001583	missense	3223				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:54423739A>C		CCDS8871.1, CCDS41792.1	12q13.13	2011-06-20	2005-12-22		ENSG00000197757	ENSG00000197757		"""Homeoboxes / ANTP class : HOXL subclass"""	5128	protein-coding gene	gene with protein product		142972	"""homeo box C6"""	HOX3C, HOX3		1973146, 1358459	Standard	NM_153693		Approved		uc001sev.3	P09630	OTTHUMG00000160027	ENST00000243108.4:c.701A>C	12.37:g.54423739A>C	ENSP00000243108:p.Lys234Thr					HOXC6_uc001ses.2_Missense_Mutation_p.K152T|HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron	p.K234T	NM_004503	NP_004494	P09630	HXC6_HUMAN			2	813	+			234			Glu/Lys-rich.		B2RBV2|Q6DK09	Missense_Mutation	SNP	ENST00000243108.4	37	c.701A>C	CCDS8871.1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.030659	0.35797	.	.	ENSG00000197757	ENST00000394331;ENST00000243108	D;D	0.93076	-3.16;-3.09	4.96	3.77	0.43336	.	0.052285	0.85682	D	0.000000	T	0.81413	0.4817	N	0.08118	0	0.80722	D	1	P	0.37233	0.588	B	0.17433	0.018	T	0.80917	-0.1168	10	0.66056	D	0.02	.	10.0462	0.42188	0.8489:0.0:0.0:0.1511	.	234	P09630	HXC6_HUMAN	T	152;234	ENSP00000377864:K152T;ENSP00000243108:K234T	ENSP00000243108:K234T	K	+	2	0	HOXC6	52710006	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.529000	0.60588	0.866000	0.35629	0.459000	0.35465	AAA		0.582	HOXC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358943.2			6	12	0	0	0	0.001984	0	6	12				
SLC16A7	9194	broad.mit.edu	37	12	60098636	60098636	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:60098636G>C	ENST00000261187.4	+	2	218	c.54G>C	c.(52-54)tgG>tgC	p.W18C	SLC16A7_ENST00000552432.1_Missense_Mutation_p.W18C|SLC16A7_ENST00000543448.1_5'UTR|SLC16A7_ENST00000549588.1_3'UTR|SLC16A7_ENST00000549465.1_Missense_Mutation_p.W18C|SLC16A7_ENST00000552024.1_Missense_Mutation_p.W18C|SLC16A7_ENST00000547379.1_Missense_Mutation_p.W18C	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	18					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.W18C(2)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	ATGGAGGATGGGGTTGGATTG	0.433																																							uc001sqs.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(52-54)TGG>TGC		solute carrier family 16, member 7	Pyruvic acid(DB00119)						87.0	78.0	81.0					12																	60098636		2203	4300	6503	SO:0001583	missense	9194					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr12:60098636G>C	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.54G>C	12.37:g.60098636G>C	ENSP00000261187:p.Trp18Cys					SLC16A7_uc001sqt.2_Missense_Mutation_p.W18C|SLC16A7_uc001squ.2_Missense_Mutation_p.W18C|SLC16A7_uc009zqi.2_5'UTR|SLC16A7_uc010ssi.1_5'UTR	p.W18C	NM_004731	NP_004722	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	3	353	+			18			Helical; (Potential).		Q8NEM3|Q9UPB3	Missense_Mutation	SNP	ENST00000261187.4	37	c.54G>C	CCDS8961.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.875490	0.72180	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000549465;ENST00000552024;ENST00000548610;ENST00000261187	T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5	5.52	5.52	0.82312	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.83672	0.5305	H	0.98256	4.185	0.80722	D	1	D	0.56968	0.978	D	0.70227	0.968	D	0.89311	0.3633	9	.	.	.	.	19.8212	0.96595	0.0:0.0:1.0:0.0	.	18	O60669	MOT2_HUMAN	C	18	ENSP00000449547:W18C;ENSP00000448071:W18C;ENSP00000447555:W18C;ENSP00000448742:W18C;ENSP00000446722:W18C;ENSP00000261187:W18C	.	W	+	3	0	SLC16A7	58384903	1.000000	0.71417	1.000000	0.80357	0.575000	0.36095	9.718000	0.98758	2.764000	0.94973	0.650000	0.86243	TGG		0.433	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		27	43	0	0	0	0.004656	0	27	43				
ZFC3H1	196441	broad.mit.edu	37	12	72027129	72027129	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:72027129T>C	ENST00000378743.3	-	13	2958	c.2600A>G	c.(2599-2601)aAg>aGg	p.K867R		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	867					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.K867R(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTTTGTAATCTTTGCTTCAGC	0.289																																							uc001swo.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(2599-2601)AAG>AGG		proline/serine-rich coiled-coil 2							59.0	55.0	56.0					12																	72027129		1801	4048	5849	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72027129T>C	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.2600A>G	12.37:g.72027129T>C	ENSP00000368017:p.Lys867Arg						p.K867R	NM_144982	NP_659419	O60293	ZC3H1_HUMAN			13	2959	-			867			Potential.		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.2600A>G	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.423255	0.62733	.	.	ENSG00000133858	ENST00000378743	T	0.36520	1.25	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.41419	0.1158	N	0.19112	0.55	0.80722	D	1	D	0.67145	0.996	D	0.65140	0.932	T	0.21449	-1.0245	10	0.25106	T	0.35	.	14.7711	0.69679	0.0:0.0:0.0:1.0	.	867	O60293	ZC3H1_HUMAN	R	867	ENSP00000368017:K867R	ENSP00000368017:K867R	K	-	2	0	ZFC3H1	70313396	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.456000	0.80751	1.885000	0.54596	0.377000	0.23210	AAG		0.289	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		10	21	0	0	0	0.006214	0	10	21				
CAPS2	84698	broad.mit.edu	37	12	75678809	75678809	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:75678809C>A	ENST00000409445.3	-	16	1700	c.1504G>T	c.(1504-1506)Gat>Tat	p.D502Y	CAPS2_ENST00000409799.1_Missense_Mutation_p.D420Y|CAPS2_ENST00000393284.3_Missense_Mutation_p.D270Y|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000442339.2_Missense_Mutation_p.D92Y|RP11-560G2.1_ENST00000549953.1_RNA	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	502	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.D270Y(2)|p.D502Y(2)		endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						TCTCCATAATCAACCTTGCCA	0.323																																							uc001sxk.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(1504-1506)GAT>TAT		calcyphosine 2							135.0	122.0	127.0					12																	75678809		2203	4298	6501	SO:0001583	missense	84698						calcium ion binding	g.chr12:75678809C>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.1504G>T	12.37:g.75678809C>A	ENSP00000386959:p.Asp502Tyr					CAPS2_uc001sxm.3_Missense_Mutation_p.D270Y|CAPS2_uc009zsa.2_Missense_Mutation_p.D92Y|CAPS2_uc001sxi.3_Missense_Mutation_p.D238Y|CAPS2_uc001sxj.3_Missense_Mutation_p.D413Y|CAPS2_uc001sxl.3_Missense_Mutation_p.D483Y	p.D502Y	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN			16	1701	-			502			EF-hand 2.|2 (Potential).		Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	ENST00000409445.3	37	c.1504G>T	CCDS9008.2	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113236	0.37339	.	.	ENSG00000180881	ENST00000409799;ENST00000409445;ENST00000378703;ENST00000393284;ENST00000442339	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.72	5.72	0.89469	EF-hand-like domain (1);	0.072360	0.56097	D	0.000031	D	0.87877	0.6288	M	0.94063	3.49	0.49798	D	0.999826	D;P;D;D;D	0.89917	0.96;0.837;1.0;1.0;1.0	P;P;D;D;D	0.81914	0.862;0.713;0.995;0.992;0.986	D	0.90204	0.4259	10	0.87932	D	0	-18.9932	15.4056	0.74874	0.0:0.9315:0.0:0.0685	.	92;270;238;502;420	A2RRN2;Q9BXY5-2;Q9BXY5-3;Q9BXY5;B9A061	.;.;.;CAYP2_HUMAN;.	Y	420;502;238;270;92	ENSP00000386977:D420Y;ENSP00000386959:D502Y;ENSP00000376963:D270Y;ENSP00000389633:D92Y	ENSP00000367975:D238Y	D	-	1	0	CAPS2	73965076	0.988000	0.35896	0.386000	0.26170	0.016000	0.09150	2.917000	0.48821	2.857000	0.98124	0.650000	0.86243	GAT		0.323	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2			34	38	1	0	2.68265e-12	0.002836	3.70865e-12	34	38				
PPFIA2	8499	broad.mit.edu	37	12	81676789	81676789	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:81676789C>A	ENST00000549396.1	-	26	3178	c.3018G>T	c.(3016-3018)caG>caT	p.Q1006H	PPFIA2_ENST00000549325.1_Splice_Site_p.Q991H|PPFIA2_ENST00000550584.2_Splice_Site_p.Q1006H|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000552948.1_Splice_Site_p.Q985H|PPFIA2_ENST00000550359.2_Splice_Site_p.Q853H|PPFIA2_ENST00000548586.1_Splice_Site_p.Q1006H|PPFIA2_ENST00000443686.3_Splice_Site_p.Q907H|PPFIA2_ENST00000333447.7_Splice_Site_p.Q991H|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541570.2_Intron|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000407050.4_Splice_Site_p.Q911H	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1006					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.Q1006H(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AATCTCCTACCTGGGCCCAGC	0.318																																							uc001szo.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|pancreas(1)	6						c.(3016-3018)CAG>CAT		PTPRF interacting protein alpha 2							78.0	72.0	74.0					12																	81676789		1828	4081	5909	SO:0001630	splice_region_variant	8499							g.chr12:81676789C>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3018+1G>T	12.37:g.81676789C>A						PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_Intron|PPFIA2_uc009zsh.2_Intron	p.Q1006H	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			26	3179	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.3018G>T	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.28|15.28	2.787826|2.787826	0.49997|0.49997	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000551147	T;T;T;T;T;T;T|.	0.26518|.	2.15;2.16;1.79;2.16;2.06;1.73;2.17|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72326|0.72326	0.3446|0.3446	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	D|.	0.57571|.	0.98|.	D|.	0.66979|.	0.948|.	T|T	0.71182|0.71182	-0.4668|-0.4668	9|5	.|.	.|.	.|.	-17.7807|-17.7807	13.1621|13.1621	0.59550|0.59550	0.0:0.9269:0.0:0.0731|0.0:0.9269:0.0:0.0731	.|.	1006|.	O75334|.	LIPA2_HUMAN|.	H|L	1006;991;911;1017;991;1006;907;985|151	ENSP00000450337:Q1006H;ENSP00000450298:Q991H;ENSP00000385093:Q911H;ENSP00000327416:Q991H;ENSP00000449338:Q1006H;ENSP00000388373:Q907H;ENSP00000447868:Q985H|.	.|.	Q|V	-|-	3|1	2|0	PPFIA2|PPFIA2	80200920|80200920	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	4.767000|4.767000	0.62286|0.62286	2.779000|2.779000	0.95612|0.95612	0.655000|0.655000	0.94253|0.94253	CAG|GTG		0.318	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1		Missense_Mutation	8	17	1	0	1.58986e-06	0.008291	1.77956e-06	8	17				
CCER1	196477	broad.mit.edu	37	12	91347339	91347339	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:91347339G>A	ENST00000358859.2	-	1	1614	c.1181C>T	c.(1180-1182)cCa>cTa	p.P394L	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	394								p.P394L(2)									GGATTCCTGTGGCACTTTGGG	0.408																																							uc001tbj.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|pancreas(1)	2						c.(1180-1182)CCA>CTA		hypothetical protein LOC196477							91.0	96.0	94.0					12																	91347339		2203	4300	6503	SO:0001583	missense	196477							g.chr12:91347339G>A	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.1181C>T	12.37:g.91347339G>A	ENSP00000351727:p.Pro394Leu						p.P394L	NM_152638	NP_689851	Q8TC90	CL012_HUMAN			1	1615	-			394					Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.1181C>T	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	G	9.435	1.086541	0.20390	.	.	ENSG00000197651	ENST00000358859	T	0.18810	2.19	5.41	4.45	0.53987	.	0.244121	0.21527	N	0.073112	T	0.12561	0.0305	N	0.24115	0.695	0.09310	N	0.999997	B	0.22909	0.077	B	0.23419	0.046	T	0.17992	-1.0351	10	0.19147	T	0.46	-0.0133	8.202	0.31430	0.108:0.0:0.892:0.0	.	394	Q8TC90	CL012_HUMAN	L	394	ENSP00000351727:P394L	ENSP00000351727:P394L	P	-	2	0	C12orf12	89871470	0.031000	0.19500	0.484000	0.27391	0.108000	0.19459	2.768000	0.47645	2.807000	0.96579	0.591000	0.81541	CCA		0.408	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		58	68	0	0	0	0.00361	0	58	68				
CKAP4	10970	broad.mit.edu	37	12	106633401	106633401	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:106633401G>C	ENST00000378026.4	-	2	1346	c.1210C>G	c.(1210-1212)Caa>Gaa	p.Q404E	CKAP4_ENST00000552828.1_5'Flank	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	404						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.Q404E(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						TGACTCTTTTGCTGGAGTGCC	0.632																																							uc001tlk.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1210-1212)CAA>GAA		cytoskeleton-associated protein 4							58.0	60.0	60.0					12																	106633401		2203	4300	6503	SO:0001583	missense	10970					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction		g.chr12:106633401G>C	X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.1210C>G	12.37:g.106633401G>C	ENSP00000367265:p.Gln404Glu						p.Q404E	NM_006825	NP_006816	Q07065	CKAP4_HUMAN			2	1294	-			404			Potential.		Q504S5|Q53ES6	Missense_Mutation	SNP	ENST00000378026.4	37	c.1210C>G	CCDS9103.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.356868	0.00214	.	.	ENSG00000136026	ENST00000378026	T	0.77098	-1.07	5.95	-9.25	0.00666	.	1.893840	0.02145	N	0.057510	T	0.43255	0.1239	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.53408	-0.8443	10	0.02654	T	1	-0.3209	8.9807	0.35964	0.0:0.3518:0.3942:0.2539	.	404	Q07065	CKAP4_HUMAN	E	404	ENSP00000367265:Q404E	ENSP00000367265:Q404E	Q	-	1	0	CKAP4	105157531	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.248000	0.18198	-1.999000	0.00967	-2.216000	0.00297	CAA		0.632	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407196.1			53	83	0	0	0	0.00361	0	53	83				
BTBD11	121551	broad.mit.edu	37	12	108042981	108042981	+	Splice_Site	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:108042981A>T	ENST00000280758.5	+	15	3450		c.e15-1		BTBD11_ENST00000420571.2_Splice_Site|BTBD11_ENST00000357167.4_Splice_Site|BTBD11_ENST00000494235.2_Splice_Site|BTBD11_ENST00000490090.2_Splice_Site|Y_RNA_ENST00000410228.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11							integral component of membrane (GO:0016021)		p.?(2)		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						GTTTTCTTCCAGCTGGTTATG	0.468																																							uc001tmk.1		NA																	2	Unknown(2)		lung(2)	skin(2)|ovary(1)	3						c.e15-2		BTB (POZ) domain containing 11 isoform a							324.0	247.0	273.0					12																	108042981		2203	4300	6503	SO:0001630	splice_region_variant	121551					integral to membrane	DNA binding	g.chr12:108042981A>T	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.2923-1A>T	12.37:g.108042981A>T						BTBD11_uc001tmj.2_Splice_Site_p.L975_splice|BTBD11_uc001tml.1_Splice_Site_p.L512_splice|BTBD11_uc001tmm.1_Splice_Site_p.L54_splice	p.L975_splice	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN			15	3444	+								A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Splice_Site	SNP	ENST00000280758.5	37	c.2923_splice	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	A	18.28	3.589953	0.66105	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000357167;ENST00000494235	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3882	0.74718	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BTBD11	106567111	1.000000	0.71417	0.999000	0.59377	0.652000	0.38707	8.962000	0.93254	2.022000	0.59522	0.459000	0.35465	.		0.468	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322	Intron	57	59	0	0	0	0.00361	0	57	59				
TRPV4	59341	broad.mit.edu	37	12	110232179	110232179	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:110232179C>A	ENST00000418703.2	-	7	1540	c.1446G>T	c.(1444-1446)atG>atT	p.M482I	TRPV4_ENST00000261740.2_Missense_Mutation_p.M482I|TRPV4_ENST00000536838.1_Missense_Mutation_p.M448I|TRPV4_ENST00000544971.1_Missense_Mutation_p.M375I|TRPV4_ENST00000392719.2_Missense_Mutation_p.M435I|TRPV4_ENST00000346520.2_Missense_Mutation_p.M422I|TRPV4_ENST00000537083.1_Missense_Mutation_p.M422I|TRPV4_ENST00000541794.1_Missense_Mutation_p.M435I	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	482					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)	p.M482I(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TGAAGATGACCATGGCACACA	0.632																																							uc001tpj.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(1444-1446)ATG>ATT		transient receptor potential cation channel,							130.0	120.0	124.0					12																	110232179		2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110232179C>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1446G>T	12.37:g.110232179C>A	ENSP00000406191:p.Met482Ile					TRPV4_uc001tpg.1_Missense_Mutation_p.M448I|TRPV4_uc001tph.1_Missense_Mutation_p.M435I|TRPV4_uc001tpi.1_Missense_Mutation_p.M375I|TRPV4_uc001tpk.1_Missense_Mutation_p.M482I|TRPV4_uc001tpl.1_Missense_Mutation_p.M422I	p.M482I	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN			7	1541	-			482			Helical; (Potential).		B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.1446G>T	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.078737	0.55753	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.91994	0.7464	L	0.53561	1.675	0.80722	D	1	D;D;D;B;P	0.65815	0.995;0.989;0.988;0.357;0.542	D;D;D;B;B	0.79784	0.993;0.958;0.981;0.219;0.395	D	0.89193	0.3552	10	0.16420	T	0.52	-6.7462	16.3763	0.83401	0.0:1.0:0.0:0.0	.	422;482;375;435;448	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	I	482;482;435;422;375;422;435;448	ENSP00000406191:M482I;ENSP00000261740:M482I;ENSP00000376480:M435I;ENSP00000319003:M422I;ENSP00000443611:M375I;ENSP00000442738:M422I;ENSP00000442167:M435I;ENSP00000444336:M448I	ENSP00000261740:M482I	M	-	3	0	TRPV4	108716562	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.718000	0.54919	2.327000	0.79052	0.561000	0.74099	ATG		0.632	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		47	68	1	0	5.48756e-27	0.002852	9.89519e-27	47	68				
ALDH2	217	broad.mit.edu	37	12	112235926	112235926	+	Silent	SNP	G	G	T	rs182362882		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:112235926G>T	ENST00000261733.2	+	10	1189	c.1128G>T	c.(1126-1128)acG>acT	p.T376T	ALDH2_ENST00000416293.3_Silent_p.T329T	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	376					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)	p.T376T(4)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	ACATCAACACGGGGAAGCAAG	0.542			T	HMGA2	leiomyoma																																		uc001tst.2		NA		Dom	yes		12	12q24.2	217	T	aldehyde dehydrogenase 2 family (mitochondrial)			M	HMGA2		leiomyoma		4	Substitution - coding silent(4)		lung(4)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1126-1128)ACG>ACT		mitochondrial aldehyde dehydrogenase 2	Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)						79.0	71.0	74.0					12																	112235926		2203	4300	6503	SO:0001819	synonymous_variant	217				carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase|electron carrier activity	g.chr12:112235926G>T	M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"""Aldehyde dehydrogenases"""	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.1128G>T	12.37:g.112235926G>T						ALDH2_uc010syi.1_Silent_p.T329T|ALDH2_uc009zvy.2_Silent_p.T300T	p.T376T	NM_000690	NP_000681	P05091	ALDH2_HUMAN			10	1569	+			376					B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Silent	SNP	ENST00000261733.2	37	c.1128G>T	CCDS9155.1																																																																																				0.542	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1	NM_000690		24	51	1	0	5.45024e-15	0.00333	8.07291e-15	24	51				
DTX1	1840	broad.mit.edu	37	12	113515246	113515246	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:113515246C>A	ENST00000257600.3	+	2	780	c.277C>A	c.(277-279)Cgg>Agg	p.R93R		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	93	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R93R(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GCGGCCCGTGCGGCGCAACTT	0.682																																							uc001tuk.1		NA																	2	Substitution - coding silent(2)		lung(2)	lung(2)|ovary(1)|central_nervous_system(1)	4						c.(277-279)CGG>AGG		deltex homolog 1							38.0	38.0	38.0					12																	113515246		2202	4300	6502	SO:0001819	synonymous_variant	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113515246C>A	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.277C>A	12.37:g.113515246C>A							p.R93R	NM_004416	NP_004407	Q86Y01	DTX1_HUMAN			2	613	+			93			WWE 1.		O60630|Q9BS04	Silent	SNP	ENST00000257600.3	37	c.277C>A	CCDS9164.1																																																																																				0.682	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			24	37	1	0	4.26978e-12	0.00333	5.81103e-12	24	37				
KDM2B	84678	broad.mit.edu	37	12	121882033	121882033	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:121882033C>A	ENST00000377071.4	-	16	2305	c.2233G>T	c.(2233-2235)Ggc>Tgc	p.G745C	KDM2B_ENST00000542973.1_Missense_Mutation_p.G113C|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377069.4_Missense_Mutation_p.G714C	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	745					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)	p.G384C(2)|p.G745C(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						AGCAGGGAGCCGGGCAGGTTG	0.572											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001uat.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|skin(1)	2						c.(2233-2235)GGC>TGC		F-box and leucine-rich repeat protein 10 isoform							54.0	56.0	55.0					12																	121882033		2001	4165	6166	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121882033C>A	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2233G>T	12.37:g.121882033C>A	ENSP00000366271:p.Gly745Cys		OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1514	KDM2B_uc001uaq.2_Missense_Mutation_p.G185C|KDM2B_uc010szy.1_Missense_Mutation_p.G185C|KDM2B_uc001uar.2_Missense_Mutation_p.G336C|KDM2B_uc001uas.2_Missense_Mutation_p.G714C|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_5'UTR|KDM2B_uc010szx.1_5'UTR|KDM2B_uc001uap.2_RNA	p.G745C	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN			16	2337	-			745					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.2233G>T	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	C	33	5.217045	0.95104	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.25912	2.06;2.4;1.77	5.95	5.95	0.96441	.	0.000000	0.52532	D	0.000061	T	0.49779	0.1577	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.993;1.0	T	0.24799	-1.0150	10	0.46703	T	0.11	-26.6101	20.3854	0.98941	0.0:1.0:0.0:0.0	.	185;745;714;188	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	C	745;113;714;745;188;748	ENSP00000437821:G113C;ENSP00000366269:G714C;ENSP00000366271:G745C	ENSP00000261824:G748C	G	-	1	0	KDM2B	120366416	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.825000	0.97269	0.655000	0.94253	GGC		0.572	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		68	77	1	0	3.30712e-30	0.00361	6.21959e-30	68	77				
ABCB9	23457	broad.mit.edu	37	12	123434340	123434340	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:123434340C>A	ENST00000542678.1	-	4	3680	c.842G>T	c.(841-843)cGc>cTc	p.R281L	ABCB9_ENST00000344275.7_Missense_Mutation_p.R281L|ABCB9_ENST00000442833.2_Missense_Mutation_p.R281L|ABCB9_ENST00000346530.5_Missense_Mutation_p.R281L|ABCB9_ENST00000540285.1_Missense_Mutation_p.R281L|ABCB9_ENST00000392439.3_Missense_Mutation_p.R281L|ABCB9_ENST00000442028.2_Missense_Mutation_p.R281L|ABCB9_ENST00000280560.8_Missense_Mutation_p.R281L			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	281	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)	p.R281L(2)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CCAACCTGTGCGGTTCTCATC	0.567																																					Ovarian(49;786 1333 9175 38236)	Ovarian(49;786 1333 9175 38236)	uc001udm.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(841-843)CGC>CTC		ATP-binding cassette, sub-family B (MDR/TAP),							113.0	115.0	114.0					12																	123434340		2203	4300	6503	SO:0001583	missense	23457				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr12:123434340C>A	U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"""ATP binding cassette transporters / subfamily B"""	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.842G>T	12.37:g.123434340C>A	ENSP00000440288:p.Arg281Leu					ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Missense_Mutation_p.R281L|ABCB9_uc010taj.1_Missense_Mutation_p.R281L|ABCB9_uc001udp.2_Missense_Mutation_p.R281L|ABCB9_uc001udq.2_Missense_Mutation_p.R63L|ABCB9_uc001udr.2_Missense_Mutation_p.R281L	p.R281L	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)	4	1152	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		281			ABC transmembrane type-1.		B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Missense_Mutation	SNP	ENST00000542678.1	37	c.842G>T	CCDS9241.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432140	0.62844	.	.	ENSG00000150967	ENST00000280560;ENST00000540285;ENST00000346530;ENST00000392439;ENST00000542678;ENST00000442028;ENST00000536976;ENST00000541424	T;D;T;T;T;T;T;T	0.92249	-1.47;-3.0;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47	5.84	5.84	0.93424	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.051161	0.85682	D	0.000000	D	0.91102	0.7199	M	0.80422	2.495	0.48395	D	0.999643	B;B;B;P;B	0.36110	0.006;0.04;0.001;0.537;0.06	B;B;B;B;B	0.35899	0.023;0.076;0.023;0.213;0.124	D	0.90347	0.4363	10	0.62326	D	0.03	-35.5742	9.1572	0.37000	0.147:0.7807:0.0:0.0724	.	281;281;63;281;281	B4E2J0;Q9NP78-3;B3KNJ8;Q9NP78-2;Q9NP78	.;.;.;.;ABCB9_HUMAN	L	281;281;281;281;281;281;43;60	ENSP00000280560:R281L;ENSP00000441734:R281L;ENSP00000280559:R281L;ENSP00000376234:R281L;ENSP00000440288:R281L;ENSP00000394898:R281L;ENSP00000443433:R43L;ENSP00000440138:R60L	ENSP00000280560:R281L	R	-	2	0	ABCB9	122000293	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.526000	0.53509	2.768000	0.95171	0.561000	0.74099	CGC		0.567	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624		53	78	1	0	2.13883e-14	0.00361	3.10386e-14	53	78				
DNAH10	196385	broad.mit.edu	37	12	124364246	124364246	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:124364246G>A	ENST00000409039.3	+	49	8203	c.8178G>A	c.(8176-8178)agG>agA	p.R2726R		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2726					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R1318R(2)|p.R2726R(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGGTGATGAGGGATCCCATAT	0.493																																							uc001uft.3		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(8176-8178)AGG>AGA		dynein, axonemal, heavy chain 10							247.0	237.0	240.0					12																	124364246		2036	4186	6222	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124364246G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.8178G>A	12.37:g.124364246G>A							p.R2726R	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	49	8203	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		2726					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.8178G>A	CCDS9255.2																																																																																				0.493	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			109	184	0	0	0	0.00361	0	109	184				
TMEM132D	121256	broad.mit.edu	37	12	129563130	129563130	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:129563130C>A	ENST00000422113.2	-	8	2390	c.2064G>T	c.(2062-2064)agG>agT	p.R688S	TMEM132D_ENST00000389441.4_Missense_Mutation_p.R226S	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	688					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.R688S(2)		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)		CAAAGATGGCCCTGTTGCTTC	0.582																																							uc009zyl.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(2062-2064)AGG>AGT		transmembrane protein 132D precursor							131.0	113.0	119.0					12																	129563130		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129563130C>A	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.2064G>T	12.37:g.129563130C>A	ENSP00000408581:p.Arg688Ser					TMEM132D_uc001uia.2_Missense_Mutation_p.R226S	p.R688S	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	8	2392	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	688			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.2064G>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.513984	0.44763	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.13538	2.58;2.58	4.79	-6.47	0.01902	.	0.115150	0.53938	D	0.000048	T	0.23014	0.0556	M	0.69463	2.115	0.39283	D	0.964606	D;P	0.59357	0.985;0.917	P;P	0.53861	0.676;0.736	T	0.17501	-1.0367	9	.	.	.	-22.0191	18.6276	0.91347	0.0:0.721:0.0:0.279	.	688;226	Q14C87;Q14C87-2	T132D_HUMAN;.	S	226;688	ENSP00000374092:R226S;ENSP00000408581:R688S	.	R	-	3	2	TMEM132D	128129083	0.164000	0.22935	0.779000	0.31741	0.393000	0.30537	-0.378000	0.07446	-1.670000	0.01468	-2.010000	0.00438	AGG		0.582	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		56	82	1	0	4.17463e-26	0.00361	7.45943e-26	56	82				
AMER2	219287	broad.mit.edu	37	13	25744474	25744474	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr13:25744474C>A	ENST00000515384.1	-	1	1951	c.1284G>T	c.(1282-1284)ccG>ccT	p.P428P	AMER2_ENST00000381853.3_Silent_p.P309P|AMER2_ENST00000357816.2_Silent_p.P309P|AMER2-AS1_ENST00000413501.1_lincRNA			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	428					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.P428P(2)|p.P309P(2)									CCACCTCGTCCGGGCTGGCCA	0.652																																							uc001uqb.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(2)|large_intestine(1)|lung(1)	4						c.(1282-1284)CCG>CCT		hypothetical protein LOC219287 isoform 1							33.0	28.0	30.0					13																	25744474		2203	4300	6503	SO:0001819	synonymous_variant	219287							g.chr13:25744474C>A	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1284G>T	13.37:g.25744474C>A						FAM123A_uc001uqa.2_Silent_p.P309P|FAM123A_uc001uqc.2_Silent_p.P309P	p.P428P	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1384	-		Lung SC(185;0.0225)|Breast(139;0.0602)	428					Q5RL80|Q5VX56|Q8N593|Q96NN5	Silent	SNP	ENST00000515384.1	37	c.1284G>T	CCDS53859.1																																																																																				0.652	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		12	46	1	0	2.27111e-07	0.001368	2.59367e-07	12	46				
ATP8A2	51761	broad.mit.edu	37	13	26043257	26043257	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr13:26043257C>A	ENST00000381655.2	+	2	361	c.219C>A	c.(217-219)atC>atA	p.I73I	ATP8A2_ENST00000255283.8_Silent_p.I33I	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	33					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|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.I73I(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ACAACCAGATCAGGTAGGAGA	0.667																																							uc001uqk.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(217-219)ATC>ATA		ATPase, aminophospholipid transporter-like,							47.0	51.0	49.0					13																	26043257		1964	4151	6115	SO:0001819	synonymous_variant	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26043257C>A	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.219C>A	13.37:g.26043257C>A						ATP8A2_uc010tdi.1_Silent_p.I33I|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc001uql.1_Silent_p.I33I	p.I73I	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	2	361	+		Breast(139;0.0201)|Lung SC(185;0.0225)	33			Cytoplasmic (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Silent	SNP	ENST00000381655.2	37	c.219C>A	CCDS41873.1																																																																																				0.667	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		9	27	1	0	2.74318e-10	0.006214	3.4586e-10	9	27				
RCBTB2	1102	broad.mit.edu	37	13	49076887	49076887	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr13:49076887C>A	ENST00000344532.3	-	11	1513	c.1090G>T	c.(1090-1092)Gcc>Tcc	p.A364S	RCBTB2_ENST00000544904.1_3'UTR|RCBTB2_ENST00000544492.1_Missense_Mutation_p.A90S|RCBTB2_ENST00000430805.2_Missense_Mutation_p.A369S	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	364					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.A364S(2)		breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		CACGTGACGGCGGGCGTGGCA	0.592																																							uc001vch.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|skin(1)	5						c.(1090-1092)GCC>TCC		regulator of chromosome condensation and BTB							67.0	60.0	62.0					13																	49076887		2202	4299	6501	SO:0001583	missense	1102						Ran guanyl-nucleotide exchange factor activity	g.chr13:49076887C>A	AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.1090G>T	13.37:g.49076887C>A	ENSP00000345144:p.Ala364Ser					RCBTB2_uc010tgg.1_Missense_Mutation_p.A369S|RCBTB2_uc001vci.2_Missense_Mutation_p.A340S|RCBTB2_uc010tgh.1_Missense_Mutation_p.A90S|RCBTB2_uc001vcj.2_Missense_Mutation_p.A316S|RCBTB2_uc010acv.1_RNA|RCBTB2_uc010tgi.1_3'UTR	p.A364S	NM_001268	NP_001259	O95199	RCBT2_HUMAN		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)	11	1461	-		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	364			RCC1 6.		B2RDW8	Missense_Mutation	SNP	ENST00000344532.3	37	c.1090G>T	CCDS9411.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971426	0.53614	.	.	ENSG00000136161	ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544492	T;T;T	0.74632	0.02;0.02;-0.86	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.57989	0.2091	N	0.16602	0.42	0.80722	D	1	B;B;P;B	0.39060	0.249;0.022;0.657;0.022	B;B;B;B	0.32762	0.144;0.02;0.152;0.044	T	0.57969	-0.7719	10	0.12430	T	0.62	.	19.956	0.97218	0.0:1.0:0.0:0.0	.	90;369;316;364	B4E372;B4DWG0;B3KVB1;O95199	.;.;.;RCBT2_HUMAN	S	364;316;369;369;90	ENSP00000345144:A364S;ENSP00000389910:A369S;ENSP00000443862:A90S	ENSP00000345144:A364S	A	-	1	0	RCBTB2	47974888	1.000000	0.71417	0.949000	0.38748	0.103000	0.19146	4.656000	0.61483	2.788000	0.95919	0.557000	0.71058	GCC		0.592	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	NM_001268		35	53	1	0	2.42023e-17	0.003271	3.76906e-17	35	53				
RNY4P30	100862673	broad.mit.edu	37	13	50466697	50466697	+	RNA	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr13:50466697A>G	ENST00000410216.1	-	0	0									RNA, Ro-associated Y4 pseudogene 30																		TGCATTCAGAAATGGAATTCA	0.403																																							uc001vdk.2		NA																	0					0						c.(1969-1971)GAA>GAG		Homo sapiens CTAGE family, member 5 pseudogene, mRNA (cDNA clone IMAGE:5270026).																																						220429							g.chr13:50466697A>G			13q14.2	2011-08-03			ENSG00000222148	ENSG00000222148			42498	pseudogene	RNA, pseudogene							Standard	NG_032103		Approved						13.37:g.50466697A>G							p.E657E	NR_003268						1	2153	+									Silent	SNP	ENST00000410216.1	37	c.1971A>G																																																																																					0.403	RNY4P30-201	KNOWN	basic	misc_RNA	misc_RNA				54	118	0	0	0	0.00361	0	54	118				
VPS36	51028	broad.mit.edu	37	13	53024666	53024666	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr13:53024666G>A	ENST00000378060.4	-	1	91	c.64C>T	c.(64-66)Cgc>Tgc	p.R22C	VPS36_ENST00000480923.1_5'Flank	NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	22	GLUE N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00828}.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)	p.R22C(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		CGCACCCCGCGCTGCTGGATC	0.711																																							uc001vgs.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(64-66)CGC>TGC		vacuolar protein sorting 36							38.0	34.0	35.0					13																	53024666		2203	4300	6503	SO:0001583	missense	51028				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	g.chr13:53024666G>A	AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"""chromosome 13 open reading frame 9"", ""vacuolar protein sorting 36 homolog (yeast)"""	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.64C>T	13.37:g.53024666G>A	ENSP00000367299:p.Arg22Cys					VPS36_uc001vgq.2_5'Flank	p.R22C	NM_016075	NP_057159	Q86VN1	VPS36_HUMAN		GBM - Glioblastoma multiforme(99;3.14e-08)	1	98	-		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	22			GLUE N-terminal.		A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	Missense_Mutation	SNP	ENST00000378060.4	37	c.64C>T	CCDS9434.1	.	.	.	.	.	.	.	.	.	.	.	15.83	2.949411	0.53186	.	.	ENSG00000136100	ENST00000378060	.	.	.	4.59	3.72	0.42706	.	0.000000	0.85682	D	0.000000	T	0.66626	0.2808	M	0.61703	1.905	0.80722	D	1	D	0.71674	0.998	P	0.57846	0.828	T	0.68606	-0.5364	9	0.56958	D	0.05	-16.2672	11.5645	0.50796	0.0:0.181:0.819:0.0	.	22	Q86VN1	VPS36_HUMAN	C	22	.	ENSP00000367299:R22C	R	-	1	0	VPS36	51922667	1.000000	0.71417	0.876000	0.34364	0.054000	0.15201	3.525000	0.53502	1.100000	0.41517	0.555000	0.69702	CGC		0.711	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045059.3			19	17	0	0	0	0.001882	0	19	17				
HNRNPA1L2	144983	broad.mit.edu	37	13	53217055	53217055	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr13:53217055G>T	ENST00000357495.2	+	1	488	c.428G>T	c.(427-429)gGc>gTc	p.G143V	HNRNPA1L2_ENST00000342657.3_Missense_Mutation_p.G143V|HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.G143V			Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	143	Globular B domain.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|mRNA transport (GO:0051028)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.G143V(2)		cervix(1)|large_intestine(1)|lung(5)	7						CGAGGCAGTGGCAAGAAAAGG	0.408																																							uc001vgx.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(427-429)GGC>GTC		heterogeneous nuclear ribonucleoprotein A1-like							34.0	38.0	36.0					13																	53217055		1610	2993	4603	SO:0001583	missense	144983				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding	g.chr13:53217055G>T		CCDS31980.1	13q14.3	2013-02-12			ENSG00000139675	ENSG00000139675		"""RNA binding motif (RRM) containing"""	27067	protein-coding gene	gene with protein product						12477932	Standard	NM_001011724		Approved	LOC144983	uc001vgy.1	Q32P51	OTTHUMG00000016972	ENST00000357495.2:c.428G>T	13.37:g.53217055G>T	ENSP00000350090:p.Gly143Val					HNRNPA1L2_uc001vgy.1_Missense_Mutation_p.G143V|HNRNPA1L2_uc001vgz.1_Missense_Mutation_p.G143V	p.G143V	NM_001011724	NP_001011724	Q32P51	RA1L2_HUMAN			7	1501	+			143			Globular B domain.|RRM 2.		Q5TBS2	Missense_Mutation	SNP	ENST00000357495.2	37	c.428G>T	CCDS31980.1	.	.	.	.	.	.	.	.	.	.	g	15.01	2.705326	0.48412	.	.	ENSG00000139675	ENST00000342657;ENST00000398039;ENST00000357495	D;D;D	0.96041	-3.89;-3.89;-3.89	0.352	0.352	0.16051	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.155755	0.24886	U	0.034802	D	0.97523	0.9189	H	0.96365	3.81	0.58432	D	0.999999	D	0.65815	0.995	P	0.61592	0.891	D	0.95884	0.8901	10	0.87932	D	0	.	6.5752	0.22562	2.0E-4:0.0:0.9998:0.0	.	143	Q32P51	RA1L2_HUMAN	V	143	ENSP00000341285:G143V;ENSP00000381119:G143V;ENSP00000350090:G143V	ENSP00000341285:G143V	G	+	2	0	HNRNPA1L2	52115056	1.000000	0.71417	0.825000	0.32803	0.124000	0.20399	6.482000	0.73613	0.455000	0.26910	0.089000	0.15464	GGC		0.408	HNRNPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045098.1	NM_001011724		17	57	1	0	1.99824e-07	0.00499	2.29201e-07	17	57				
PCDH20	64881	broad.mit.edu	37	13	61987564	61987564	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr13:61987564G>T	ENST00000409186.1	-	5	2773	c.668C>A	c.(667-669)cCt>cAt	p.P223H	PCDH20_ENST00000409204.4_Missense_Mutation_p.P223H			Q8N6Y1	PCD20_HUMAN	protocadherin 20	223	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)|poly(A) RNA binding (GO:0044822)	p.P196H(2)|p.P223H(2)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGTGTTTACAGGTGCATTTTC	0.517																																							uc001vid.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(4)|breast(1)|central_nervous_system(1)	6						c.(667-669)CCT>CAT		protocadherin 20							108.0	97.0	101.0					13																	61987564		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61987564G>T	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.668C>A	13.37:g.61987564G>T	ENSP00000386653:p.Pro223His					PCDH20_uc010thj.1_Missense_Mutation_p.P223H	p.P223H	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	2	1032	-		Breast(118;0.195)|Prostate(109;0.229)	196			Cadherin 2.|Extracellular (Potential).		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.668C>A	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	g	15.51	2.855101	0.51376	.	.	ENSG00000197991	ENST00000409204;ENST00000409186	T;T	0.55588	0.51;0.51	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000006	T	0.71634	0.3363	M	0.65975	2.015	0.58432	D	0.999999	D	0.76494	0.999	D	0.66847	0.947	T	0.70749	-0.4787	10	0.51188	T	0.08	.	19.9686	0.97276	0.0:0.0:1.0:0.0	.	223	A8K1K9	.	H	223	ENSP00000387250:P223H;ENSP00000386653:P223H	ENSP00000386653:P223H	P	-	2	0	PCDH20	60885565	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.455000	0.60075	2.722000	0.93159	0.651000	0.88453	CCT		0.517	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		58	148	1	0	1.54043e-34	0.00361	2.97515e-34	58	148				
SLITRK5	26050	broad.mit.edu	37	13	88329238	88329238	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr13:88329238G>T	ENST00000325089.6	+	2	1814	c.1595G>T	c.(1594-1596)aGg>aTg	p.R532M	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R291M	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	532					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.R532M(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACCCTCCTCAGGCTAAACCTG	0.527																																							uc001vln.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(1594-1596)AGG>ATG		SLIT and NTRK-like family, member 5 precursor							68.0	70.0	70.0					13																	88329238		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88329238G>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1595G>T	13.37:g.88329238G>T	ENSP00000366283:p.Arg532Met					SLITRK5_uc010tic.1_Missense_Mutation_p.R291M	p.R532M	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	1814	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		532			Extracellular (Potential).|LRR 12.		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.1595G>T	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200682	0.58126	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.57436	0.4;0.4	4.86	4.86	0.63082	.	0.056194	0.64402	D	0.000003	T	0.58623	0.2135	N	0.25286	0.73	0.58432	D	0.999991	D;D	0.89917	0.993;1.0	D;D	0.87578	0.982;0.998	T	0.57441	-0.7811	9	.	.	.	-11.9286	15.4774	0.75493	0.0:0.0:1.0:0.0	.	291;532	B4DSH5;O94991	.;SLIK5_HUMAN	M	532;291	ENSP00000366283:R532M;ENSP00000442244:R291M	.	R	+	2	0	SLITRK5	87127239	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.864000	0.99589	2.226000	0.72624	0.561000	0.74099	AGG		0.527	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			48	74	1	0	6.21074e-16	0.002852	9.35768e-16	48	74				
DOCK9	23348	broad.mit.edu	37	13	99520213	99520213	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr13:99520213T>C	ENST00000376460.1	-	29	3223	c.3143A>G	c.(3142-3144)tAc>tGc	p.Y1048C	DOCK9_ENST00000448493.2_Missense_Mutation_p.Y1060C|DOCK9_ENST00000339416.2_Missense_Mutation_p.Y1049C|DOCK9_ENST00000442173.1_Missense_Mutation_p.Y1048C	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1049					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Y1049C(2)|p.Y1060C(2)|p.Y1048C(2)		breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACAGCTAATGTAGTTGTTGAT	0.428																																							uc001vnt.2		NA																	6	Substitution - Missense(6)		lung(6)	central_nervous_system(1)	1						c.(3145-3147)TAC>TGC		dedicator of cytokinesis 9 isoform a							49.0	46.0	47.0					13																	99520213		1862	4108	5970	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99520213T>C	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.3143A>G	13.37:g.99520213T>C	ENSP00000365643:p.Tyr1048Cys					DOCK9_uc001vnw.2_Missense_Mutation_p.Y1048C|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.Y1049C|DOCK9_uc010tis.1_Missense_Mutation_p.Y1048C|DOCK9_uc010tit.1_Missense_Mutation_p.Y1049C|DOCK9_uc010tiq.1_Missense_Mutation_p.Y13C|DOCK9_uc010afu.1_Missense_Mutation_p.Y895C	p.Y1049C	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN			29	3201	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		1049					B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.3146A>G	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.301874	0.81136	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.55893	0.1949	M	0.86097	2.795	0.80722	D	1	D;D;D;D;P;D	0.89917	0.999;0.999;1.0;0.999;0.818;0.997	D;D;D;D;P;P	0.87578	0.987;0.945;0.998;0.987;0.471;0.882	T	0.64158	-0.6473	10	0.87932	D	0	.	15.2165	0.73270	0.0:0.0:0.0:1.0	.	1049;1048;1049;1048;1048;1049	A6H8Z6;E9PFM9;A8MWZ5;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;.;DOCK9_HUMAN	C	1048;1049;1049;1049;1048;1049;1060;1048	ENSP00000365643:Y1048C;ENSP00000341086:Y1049C;ENSP00000401958:Y1060C;ENSP00000406883:Y1048C	ENSP00000341086:Y1049C	Y	-	2	0	DOCK9	98318214	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.619000	0.83057	2.054000	0.61138	0.533000	0.62120	TAC		0.428	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		13	14	0	0	0	0.001855	0	13	14				
FGF14	2259	broad.mit.edu	37	13	102378993	102378993	+	Silent	SNP	T	T	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr13:102378993T>G	ENST00000376143.4	-	4	575	c.576A>C	c.(574-576)ccA>ccC	p.P192P	FGF14_ENST00000376131.4_Silent_p.P197P	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	192					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.P192P(2)|p.P197P(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATGAGCTGCTGGTTTGGTTT	0.363																																							uc001vpe.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(2)|lung(1)|large_intestine(1)	4						c.(574-576)CCA>CCC		fibroblast growth factor 14 isoform 1A							169.0	149.0	156.0					13																	102378993		2203	4300	6503	SO:0001819	synonymous_variant	2259				cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	g.chr13:102378993T>G		CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.576A>C	13.37:g.102378993T>G						FGF14_uc001vpf.2_Silent_p.P197P	p.P192P	NM_004115	NP_004106	Q92915	FGF14_HUMAN			4	576	-	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		192					Q86YN7|Q96QX6	Silent	SNP	ENST00000376143.4	37	c.576A>C	CCDS9501.1																																																																																				0.363	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045679.2			27	44	0	0	0	0.003954	0	27	44				
COL4A1	1282	broad.mit.edu	37	13	110863998	110863998	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr13:110863998A>T	ENST00000375820.4	-	8	585	c.464T>A	c.(463-465)aTg>aAg	p.M155K	COL4A1_ENST00000543140.1_Missense_Mutation_p.M155K	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	155					axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)	p.M155K(2)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			ATGTACCTTCATCCCTGGTAA	0.313																																							uc001vqw.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(463-465)ATG>AAG		alpha 1 type IV collagen preproprotein							107.0	113.0	111.0					13																	110863998		2203	4300	6503	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110863998A>T	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.464T>A	13.37:g.110863998A>T	ENSP00000364979:p.Met155Lys					COL4A1_uc010agl.2_Missense_Mutation_p.M155K	p.M155K	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		8	586	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	155					A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.464T>A	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	A	8.843	0.942607	0.18281	.	.	ENSG00000187498	ENST00000375820;ENST00000397198;ENST00000543140	D;D	0.92911	-3.13;-3.13	5.18	5.18	0.71444	.	0.155316	0.53938	D	0.000051	T	0.81851	0.4910	N	0.24115	0.695	0.36085	D	0.84302	P;B	0.36249	0.545;0.27	B;B	0.32677	0.15;0.136	T	0.81380	-0.0959	10	0.06099	T	0.92	.	9.5673	0.39407	0.9217:0.0:0.0783:0.0	.	155;155	F5H5K0;P02462	.;CO4A1_HUMAN	K	155	ENSP00000364979:M155K;ENSP00000443348:M155K	ENSP00000364979:M155K	M	-	2	0	COL4A1	109661999	1.000000	0.71417	0.999000	0.59377	0.799000	0.45148	3.655000	0.54460	1.955000	0.56771	0.523000	0.50628	ATG		0.313	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			14	36	0	0	0	0.00245	0	14	36				
OR4K14	122740	broad.mit.edu	37	14	20483031	20483031	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:20483031T>C	ENST00000305045.2	-	1	321	c.322A>G	c.(322-324)Act>Gct	p.T108A		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T108A(2)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GCCCCACCAGTAAAGTGCAAG	0.463																																							uc010tky.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|large_intestine(1)	3						c.(322-324)ACT>GCT		olfactory receptor, family 4, subfamily K,							101.0	98.0	99.0					14																	20483031		2203	4300	6503	SO:0001583	missense	122740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20483031T>C		CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"""GPCR / Class A : Olfactory receptors"""	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.322A>G	14.37:g.20483031T>C	ENSP00000305011:p.Thr108Ala						p.T108A	NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	322	-	all_cancers(95;0.00108)		108			Helical; Name=3; (Potential).		Q6IEU1|Q96R71	Missense_Mutation	SNP	ENST00000305045.2	37	c.322A>G	CCDS32027.1	.	.	.	.	.	.	.	.	.	.	.	11.27	1.589463	0.28357	.	.	ENSG00000169484	ENST00000305045	T	0.00473	7.18	4.04	-1.88	0.07713	GPCR, rhodopsin-like superfamily (1);	0.774077	0.10946	N	0.616620	T	0.00178	0.0005	N	0.03608	-0.345	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.38134	-0.9675	10	0.49607	T	0.09	.	0.8693	0.01210	0.2837:0.3331:0.1445:0.2387	.	108	Q8NGD5	OR4KE_HUMAN	A	108	ENSP00000305011:T108A	ENSP00000305011:T108A	T	-	1	0	OR4K14	19552871	0.000000	0.05858	0.968000	0.41197	0.990000	0.78478	-1.244000	0.02902	-0.577000	0.05967	0.413000	0.27773	ACT		0.463	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			17	75	0	0	0	0.006122	0	17	75				
OR6S1	341799	broad.mit.edu	37	14	21108972	21108972	+	Silent	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:21108972A>G	ENST00000320704.3	-	1	878	c.879T>C	c.(877-879)taT>taC	p.Y293Y		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y293Y(2)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TACGTAAGGCATAGATGAATG	0.438																																							uc001vxv.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(877-879)TAT>TAC		olfactory receptor, family 6, subfamily S,							203.0	183.0	190.0					14																	21108972		2203	4300	6503	SO:0001819	synonymous_variant	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21108972A>G	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"""GPCR / Class A : Olfactory receptors"""	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.879T>C	14.37:g.21108972A>G							p.Y293Y	NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	1	879	-	all_cancers(95;0.00304)		293			Helical; Name=7; (Potential).		Q6IFJ9	Silent	SNP	ENST00000320704.3	37	c.879T>C	CCDS32038.1																																																																																				0.438	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			60	188	0	0	0	0.00361	0	60	188				
MYH6	4624	broad.mit.edu	37	14	23866764	23866764	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:23866764C>A	ENST00000356287.3	-	15	1979	c.1950G>T	c.(1948-1950)tcG>tcT	p.S650S	MYH6_ENST00000405093.3_Silent_p.S650S			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	650	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|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)|protein kinase binding (GO:0019901)	p.S650S(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGTGGAGAGCCGACACCGTCT	0.542																																							uc001wjv.2		NA																	2	Substitution - coding silent(2)		lung(2)	pancreas(2)|ovary(1)|skin(1)	4						c.(1948-1950)TCG>TCT		myosin heavy chain 6							90.0	86.0	87.0					14																	23866764		2203	4300	6503	SO:0001819	synonymous_variant	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23866764C>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1950G>T	14.37:g.23866764C>A							p.S650S	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	16	2017	-	all_cancers(95;2.54e-05)		650			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	c.1950G>T	CCDS9600.1																																																																																				0.542	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			39	142	1	0	2.58029e-29	0.009718	4.78415e-29	39	142				
MYH7	4625	broad.mit.edu	37	14	23886822	23886823	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:23886822_23886823CC>AA	ENST00000355349.3	-	31	4404_4405	c.4242_4243GG>TT	c.(4240-4245)ctGGag>ctTTag	p.E1415*	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1415					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.E1415*(2)|p.E1415Q(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)		TTGGTCTTCTCCAGCGAGGAGC	0.609																																							uc001wjx.2		NA																	3	Substitution - Nonsense(2)|Substitution - Missense(1)		lung(3)	ovary(3)|skin(1)	4						c.(4240-4245)CTGGAG>CTTTAG		myosin, heavy chain 7, cardiac muscle, beta																																				SO:0001587	stop_gained	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.chr14:23886822_23886823CC>AA	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.4242_4243delinsAA	14.37:g.23886822_23886823delinsAA	ENSP00000347507:p.Glu1415*						p.E1415*	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	31	4348_4349	-	all_cancers(95;2.54e-05)		1415			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Nonsense_Mutation	DNP	ENST00000355349.3	37	c.4242_4243GG>TT	CCDS9601.1																																																																																				0.609	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		26	109	0	0	0	0.004672	0	26	109				
ARHGAP5	394	broad.mit.edu	37	14	32560197	32560198	+	Missense_Mutation	DNP	CG	CG	TC			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:32560197_32560198CG>TC	ENST00000345122.3	+	2	637_638	c.322_323CG>TC	c.(322-324)CGg>TCg	p.R108S	ARHGAP5_ENST00000539826.2_Missense_Mutation_p.R108S|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.R108S|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.R108S|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	108					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.R108S(2)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CTTGCCTCATCGGAGTACGAAT	0.381																																					NSCLC(9;77 350 3443 29227 41353)	NSCLC(9;77 350 3443 29227 41353)	uc001wrl.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(1)	5						c.(322-324)CGG>TCG		Rho GTPase activating protein 5 isoform b																																				SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32560197_32560198CG>TC	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		Exception_encountered	14.37:g.32560197_32560198delinsTC	ENSP00000371897:p.Arg108Ser					ARHGAP5_uc001wrm.2_Missense_Mutation_p.R108S|ARHGAP5_uc001wrn.2_Missense_Mutation_p.R108S|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	p.R108S	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	561_562	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		108					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	DNP	ENST00000345122.3	37	c.322_323CG>TC	CCDS32062.1																																																																																				0.381	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		37	131	0	0	0	0.004672	0	37	131				
AKAP6	9472	broad.mit.edu	37	14	33205041	33205041	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:33205041G>T	ENST00000280979.4	+	11	3495	c.3325G>T	c.(3325-3327)Gaa>Taa	p.E1109*	AKAP6_ENST00000557272.1_Nonsense_Mutation_p.E1109*	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1109					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.E1109*(2)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCTGAGACAAGAAAAGGAAGG	0.373																																					Melanoma(49;821 1200 7288 13647 42351)	Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2		NA																	2	Substitution - Nonsense(2)		lung(2)	breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(3325-3327)GAA>TAA		A-kinase anchor protein 6							76.0	84.0	81.0					14																	33205041		2203	4300	6503	SO:0001587	stop_gained	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33205041G>T	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.3325G>T	14.37:g.33205041G>T	ENSP00000280979:p.Glu1109*						p.E1109*	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	11	3495	+	Breast(36;0.0388)|Prostate(35;0.15)		1109			Spectrin 2.		A7E242|A7E2D4|O15028	Nonsense_Mutation	SNP	ENST00000280979.4	37	c.3325G>T	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	44	10.881251	0.99483	.	.	ENSG00000151320	ENST00000280979;ENST00000557272	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-17.809	19.8437	0.96701	0.0:0.0:1.0:0.0	.	.	.	.	X	1109	.	ENSP00000280979:E1109X	E	+	1	0	AKAP6	32274792	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.594000	0.74104	2.693000	0.91896	0.585000	0.79938	GAA		0.373	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		18	82	1	0	1.99824e-07	0.00499	2.29201e-07	18	82				
SEC23A	10484	broad.mit.edu	37	14	39556195	39556195	+	Silent	SNP	A	A	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:39556195A>C	ENST00000307712.6	-	6	1138	c.621T>G	c.(619-621)tcT>tcG	p.S207S	SEC23A_ENST00000536508.1_Silent_p.S81S|SEC23A_ENST00000537403.1_Silent_p.S5S|SEC23A_ENST00000545328.2_Silent_p.S178S	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	207					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.S207S(2)		kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		GTGGTACTTTAGAGAGCCCCA	0.363																																							uc001wup.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|upper_aerodigestive_tract(1)	5						c.(619-621)TCT>TCG		SEC23-related protein A							116.0	108.0	111.0					14																	39556195		2203	4300	6503	SO:0001819	synonymous_variant	10484				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	g.chr14:39556195A>C	X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"""Sec23 (S. cerevisiae) homolog A"""			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.621T>G	14.37:g.39556195A>C						SEC23A_uc010tqa.1_Silent_p.S69S|SEC23A_uc010tqb.1_Silent_p.S178S|SEC23A_uc010tqc.1_Silent_p.S69S	p.S207S	NM_006364	NP_006355	Q15436	SC23A_HUMAN	Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)	6	844	-	Hepatocellular(127;0.213)		207					B2R5P4|B3KXI2|Q8NE16	Silent	SNP	ENST00000307712.6	37	c.621T>G	CCDS9668.1																																																																																				0.363	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2			32	70	0	0	0	0.002836	0	32	70				
GPR135	64582	broad.mit.edu	37	14	59930621	59930621	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:59930621T>A	ENST00000395116.1	-	1	1439	c.1324A>T	c.(1324-1326)Aac>Tac	p.N442Y		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	442						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.N442Y(2)		breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		GACATCCTGTTGCAGGCCCCC	0.632																																							uc010apj.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1324-1326)AAC>TAC		G protein-coupled receptor 135							39.0	33.0	35.0					14																	59930621		2203	4300	6503	SO:0001583	missense	64582					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:59930621T>A	AY288418	CCDS9738.1	14q23.1	2012-08-21			ENSG00000181619	ENSG00000181619		"""GPCR / Class A : Orphans"""	19991	protein-coding gene	gene with protein product		607970				14623098	Standard	NM_022571		Approved	HUMNPIIY20, PAFR	uc010apj.3	Q8IZ08	OTTHUMG00000140325	ENST00000395116.1:c.1324A>T	14.37:g.59930621T>A	ENSP00000378548:p.Asn442Tyr					GPR135_uc001xed.2_RNA	p.N442Y	NM_022571	NP_072093	Q8IZ08	GP135_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.134)	1	1439	-			442			Cytoplasmic (Potential).		Q7Z604|Q86SM3|Q8NH39	Missense_Mutation	SNP	ENST00000395116.1	37	c.1324A>T	CCDS9738.1	.	.	.	.	.	.	.	.	.	.	t	17.59	3.426932	0.62733	.	.	ENSG00000181619	ENST00000395116	T	0.63255	-0.03	4.89	1.07	0.20283	.	0.120124	0.53938	U	0.000050	T	0.31734	0.0806	N	0.08118	0	0.58432	D	0.999996	P	0.34780	0.468	B	0.21360	0.034	T	0.12502	-1.0545	10	0.72032	D	0.01	-10.562	6.4009	0.21638	0.0:0.1439:0.1319:0.7243	.	442	Q8IZ08	GP135_HUMAN	Y	442	ENSP00000378548:N442Y	ENSP00000378548:N442Y	N	-	1	0	GPR135	59000374	1.000000	0.71417	0.003000	0.11579	0.435000	0.31806	2.027000	0.41078	0.343000	0.23821	0.529000	0.55759	AAC		0.632	GPR135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276941.1	NM_022571		10	24	0	0	0	0.001855	0	10	24				
CCDC175	729665	broad.mit.edu	37	14	59970757	59970757	+	IGR	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:59970757A>T	ENST00000537690.2	-	0	2616				JKAMP_ENST00000261247.9_Silent_p.S301S|JKAMP_ENST00000356057.5_Silent_p.S309S|JKAMP_ENST00000425728.2_Silent_p.S295S|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000554271.1_Silent_p.S315S	NM_001164399.1	NP_001157871.1	P0C221	CC175_HUMAN	coiled-coil domain containing 175									p.S311S(2)|p.S309S(2)									CCGAACCTTCAAGGATACTCT	0.398																																							uc001xei.3		NA																	4	Substitution - coding silent(4)		lung(4)	breast(1)	1						c.(943-945)TCA>TCT		JNK1-associated membrane protein isoform 2							76.0	71.0	73.0					14																	59970757		1826	4085	5911	SO:0001628	intergenic_variant	51528				ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding	g.chr14:59970757A>T		CCDS53898.1	14q23.1	2012-09-24	2012-09-24	2012-09-24	ENSG00000151838	ENSG00000151838			19847	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 38"""	C14orf38			Standard	NM_001164399		Approved		uc021rtw.1	P0C221			14.37:g.59970757A>T						JKAMP_uc001xef.3_Silent_p.S301S|JKAMP_uc001xeh.3_Silent_p.S295S|JKAMP_uc001xeg.3_Silent_p.S309S|JKAMP_uc010try.1_Silent_p.S238S|JKAMP_uc001xej.3_Silent_p.S238S	p.S315S	NM_001098625	NP_001092095	Q9P055	JKAMP_HUMAN			7	1447	+			316			Cytoplasmic (Potential).		G3V5J7	Silent	SNP	ENST00000537690.2	37	c.945A>T	CCDS53898.1																																																																																				0.398	CCDC175-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471273.1	NM_001164399		7	55	0	0	0	0.001984	0	7	55				
SYNE2	23224	broad.mit.edu	37	14	64483301	64483301	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:64483301G>T	ENST00000344113.4	+	33	5051	c.4839G>T	c.(4837-4839)gaG>gaT	p.E1613D	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.E1613D|SYNE2_ENST00000358025.3_Missense_Mutation_p.E1613D	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1613					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.E1613D(2)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTTTTGAAGAGCCCCCTTTTG	0.284																																							uc001xgm.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(4837-4839)GAG>GAT		spectrin repeat containing, nuclear envelope 2							27.0	27.0	27.0					14																	64483301		1781	4026	5807	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64483301G>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.4839G>T	14.37:g.64483301G>T	ENSP00000341781:p.Glu1613Asp					SYNE2_uc001xgl.2_Missense_Mutation_p.E1613D	p.E1613D	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	33	5069	+			1613			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.4839G>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	9.271	1.045629	0.19748	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.59224	1.34;1.34;0.28	4.61	-5.78	0.02362	.	0.227873	0.30260	N	0.010028	T	0.33118	0.0852	L	0.28115	0.83	0.80722	D	1	B;B	0.15930	0.009;0.015	B;B	0.16722	0.007;0.016	T	0.11817	-1.0572	10	0.20046	T	0.44	.	7.5506	0.27796	0.3514:0.2773:0.3713:0.0	.	1613;1613	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	D	1613	ENSP00000350719:E1613D;ENSP00000341781:E1613D;ENSP00000452570:E1613D	ENSP00000261678:E1613D	E	+	3	2	SYNE2	63553054	0.946000	0.32159	0.375000	0.26029	0.978000	0.69477	-0.095000	0.11077	-2.177000	0.00769	-1.164000	0.01763	GAG		0.284	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		8	25	1	0	5.18039e-06	0.00308	5.7495e-06	8	25				
SPTB	6710	broad.mit.edu	37	14	65253520	65253520	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:65253520C>A	ENST00000389721.5	-	15	3195	c.3163G>T	c.(3163-3165)Gac>Tac	p.D1055Y	SPTB_ENST00000556626.1_Missense_Mutation_p.D1055Y|SPTB_ENST00000389720.3_Missense_Mutation_p.D1055Y|SPTB_ENST00000542895.1_Missense_Mutation_p.D1055Y|SPTB_ENST00000389722.3_Missense_Mutation_p.D1055Y	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1055					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.D1055Y(2)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCCAGCAAGTCCTCCTGGCCC	0.607																																							uc001xht.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(3163-3165)GAC>TAC		spectrin beta isoform b							48.0	53.0	51.0					14																	65253520		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65253520C>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.3163G>T	14.37:g.65253520C>A	ENSP00000374371:p.Asp1055Tyr					SPTB_uc001xhr.2_Missense_Mutation_p.D1055Y|SPTB_uc001xhs.2_Missense_Mutation_p.D1055Y|SPTB_uc001xhu.2_Missense_Mutation_p.D1055Y	p.D1055Y	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	15	3217	-		all_lung(585;4.15e-09)	1055			Spectrin 8.		Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.3163G>T	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935034	0.52866	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	4.89	3.95	0.45737	.	0.487560	0.21935	N	0.066962	T	0.54398	0.1856	M	0.68317	2.08	0.31801	N	0.628374	P;P	0.40107	0.537;0.703	B;P	0.45660	0.389;0.489	T	0.66093	-0.6009	10	0.66056	D	0.02	.	13.8985	0.63787	0.0:0.7966:0.2034:0.0	.	1055;1059	P11277;Q59FP5	SPTB1_HUMAN;.	Y	1059;1055;1055;1055;1055;1055	ENSP00000374372:D1055Y;ENSP00000451752:D1055Y;ENSP00000374371:D1055Y;ENSP00000443882:D1055Y;ENSP00000374370:D1055Y	ENSP00000374370:D1055Y	D	-	1	0	SPTB	64323273	1.000000	0.71417	0.996000	0.52242	0.497000	0.33675	6.125000	0.71627	1.042000	0.40150	0.549000	0.68633	GAC		0.607	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			23	124	1	0	1.22574e-08	0.002299	1.46124e-08	23	124				
SLC8A3	6547	broad.mit.edu	37	14	70515594	70515594	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:70515594C>G	ENST00000381269.2	-	7	3050	c.2297G>C	c.(2296-2298)gGc>gCc	p.G766A	SLC8A3_ENST00000216568.7_Missense_Mutation_p.G137A|SLC8A3_ENST00000533541.1_Missense_Mutation_p.G123A|SLC8A3_ENST00000356921.2_Missense_Mutation_p.G760A|SLC8A3_ENST00000357887.3_Missense_Mutation_p.G764A|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G764A|SLC8A3_ENST00000534137.1_Missense_Mutation_p.G763A|SLC8A3_ENST00000394330.2_Missense_Mutation_p.G123A	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	766					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)	p.G766A(2)|p.G764A(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GGTGAGCATGCCAATGATGAG	0.572																																							uc001xly.2		NA																	4	Substitution - Missense(4)		lung(4)	skin(3)|ovary(2)|breast(2)	7						c.(2296-2298)GGC>GCC		solute carrier family 8 (sodium/calcium							80.0	66.0	71.0					14																	70515594		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70515594C>G	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.2297G>C	14.37:g.70515594C>G	ENSP00000370669:p.Gly766Ala					SLC8A3_uc001xlu.2_Missense_Mutation_p.G123A|SLC8A3_uc001xlv.2_Missense_Mutation_p.G137A|SLC8A3_uc001xlw.2_Missense_Mutation_p.G763A|SLC8A3_uc001xlx.2_Missense_Mutation_p.G764A|SLC8A3_uc001xlz.2_Missense_Mutation_p.G760A|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_Missense_Mutation_p.G123A	p.G766A	NM_183002	NP_892114	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	7	3051	-			766			Helical; (Potential).		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.2297G>C	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	31	5.064017	0.93898	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000216568;ENST00000394330;ENST00000534137;ENST00000528359;ENST00000533541	T;T;T;T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.39	5.78	5.78	0.91487	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.80314	0.4600	M	0.85945	2.785	0.80722	D	1	P;D;D;D;D;D	0.89917	0.901;1.0;1.0;0.999;1.0;0.985	P;D;D;D;D;P	0.91635	0.86;0.998;0.999;0.997;0.998;0.85	T	0.81771	-0.0780	10	0.62326	D	0.03	.	20.0165	0.97478	0.0:1.0:0.0:0.0	.	123;760;766;764;763;137	F2Z391;P57103-2;P57103;Q96QG2;Q96QG1;Q5K3P6	.;.;NAC3_HUMAN;.;.;.	A	760;766;764;137;123;763;764;123	ENSP00000349392:G760A;ENSP00000370669:G766A;ENSP00000350560:G764A;ENSP00000216568:G137A;ENSP00000377863:G123A;ENSP00000436688:G763A;ENSP00000433531:G764A;ENSP00000437103:G123A	ENSP00000216568:G137A	G	-	2	0	SLC8A3	69585347	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	7.757000	0.85209	2.740000	0.93945	0.455000	0.32223	GGC		0.572	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			7	35	0	0	0	0.00308	0	7	35				
LTBP2	4053	broad.mit.edu	37	14	74969481	74969481	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:74969481G>T	ENST00000261978.4	-	34	5431	c.5045C>A	c.(5044-5046)cCc>cAc	p.P1682H	LTBP2_ENST00000556690.1_Missense_Mutation_p.P1638H	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1682					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.P1682H(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGTGTCCTCGGGGCCCAGGTA	0.632																																							uc001xqa.2		NA																	2	Substitution - Missense(2)		lung(2)	liver(1)|skin(1)	2						c.(5044-5046)CCC>CAC		latent transforming growth factor beta binding							72.0	75.0	74.0					14																	74969481		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74969481G>T		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.5045C>A	14.37:g.74969481G>T	ENSP00000261978:p.Pro1682His						p.P1682H	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	34	5432	-			1682					Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.5045C>A	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.982626	0.53827	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.79352	-1.26;-1.26	4.9	4.0	0.46444	.	0.000000	0.39834	N	0.001248	T	0.75361	0.3839	L	0.32530	0.975	0.28957	N	0.890089	D	0.62365	0.991	P	0.55161	0.77	T	0.70163	-0.4947	10	0.51188	T	0.08	.	9.2607	0.37610	0.1674:0.0:0.8326:0.0	.	1682	Q14767	LTBP2_HUMAN	H	1682;1638	ENSP00000261978:P1682H;ENSP00000451477:P1638H	ENSP00000261978:P1682H	P	-	2	0	LTBP2	74039234	0.997000	0.39634	0.968000	0.41197	0.566000	0.35808	3.870000	0.56070	1.246000	0.43901	0.561000	0.74099	CCC		0.632	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		35	140	1	0	1.45844e-13	0.002836	2.08575e-13	35	140				
KCNK10	54207	broad.mit.edu	37	14	88658607	88658607	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:88658607C>A	ENST00000340700.5	-	5	1265	c.814G>T	c.(814-816)Gtc>Ttc	p.V272F	KCNK10_ENST00000319231.5_Missense_Mutation_p.V277F|KCNK10_ENST00000312350.5_Missense_Mutation_p.V277F	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	272					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.V277F(4)|p.V272F(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GTCAGAGTGACCACCACAAAG	0.542																																							uc001xwo.2		NA																	6	Substitution - Missense(6)		lung(6)	ovary(2)|skin(2)|pancreas(1)	5						c.(814-816)GTC>TTC		potassium channel, subfamily K, member 10							126.0	130.0	129.0					14																	88658607		2203	4300	6503	SO:0001583	missense	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88658607C>A	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.814G>T	14.37:g.88658607C>A	ENSP00000343104:p.Val272Phe					KCNK10_uc001xwm.2_Missense_Mutation_p.V277F|KCNK10_uc001xwn.2_Missense_Mutation_p.V277F	p.V272F	NM_021161	NP_066984	P57789	KCNKA_HUMAN			5	1271	-			272					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	c.814G>T	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436811	0.83885	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	T;T;T	0.37235	1.21;1.21;1.21	5.89	5.0	0.66597	Ion transport 2 (1);	0.099990	0.64402	D	0.000002	T	0.60366	0.2263	M	0.80332	2.49	0.80722	D	1	D;D;D	0.59357	0.985;0.985;0.985	D;D;P	0.66497	0.944;0.944;0.889	T	0.64433	-0.6409	10	0.87932	D	0	.	14.4585	0.67433	0.0:0.93:0.0:0.07	.	272;277;277	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	F	272;277;277	ENSP00000343104:V272F;ENSP00000310568:V277F;ENSP00000312811:V277F	ENSP00000310568:V277F	V	-	1	0	KCNK10	87728360	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.041000	0.49807	2.790000	0.95986	0.655000	0.94253	GTC		0.542	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		30	133	1	0	1.74807e-11	0.002096	2.31899e-11	30	133				
SERPINA4	5267	broad.mit.edu	37	14	95030031	95030031	+	Missense_Mutation	SNP	C	C	A	rs373612181		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:95030031C>A	ENST00000557004.1	+	2	633	c.212C>A	c.(211-213)cCg>cAg	p.P71Q	SERPINA4_ENST00000298841.5_Missense_Mutation_p.P71Q|SERPINA4_ENST00000555095.1_Missense_Mutation_p.P71Q|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	71					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P71Q(3)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TCGGAGACCCCGGGGAAGAAC	0.607																																							uc001ydk.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(3)|skin(1)	4						c.(211-213)CCG>CAG		serine (or cysteine) proteinase inhibitor, clade							67.0	64.0	65.0					14																	95030031		2203	4300	6503	SO:0001583	missense	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95030031C>A	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.212C>A	14.37:g.95030031C>A	ENSP00000450838:p.Pro71Gln					SERPINA4_uc010avd.2_Missense_Mutation_p.P108Q|SERPINA4_uc001ydl.2_Missense_Mutation_p.P71Q	p.P71Q	NM_006215	NP_006206	P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	278	+			71					Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	ENST00000557004.1	37	c.212C>A	CCDS9927.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757603	0.49468	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.84516	-1.86;-1.86;-1.86	4.38	1.24	0.21308	Serpin domain (3);	0.108637	0.39544	N	0.001322	D	0.89015	0.6595	M	0.67397	2.05	0.09310	N	0.999996	D;D	0.89917	1.0;0.982	D;P	0.91635	0.999;0.828	T	0.79538	-0.1762	10	0.54805	T	0.06	.	8.2057	0.31454	0.3844:0.5389:0.0:0.0767	.	71;71	B2R815;P29622	.;KAIN_HUMAN	Q	71	ENSP00000450838:P71Q;ENSP00000451172:P71Q;ENSP00000298841:P71Q	ENSP00000298841:P71Q	P	+	2	0	SERPINA4	94099784	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.519000	0.06260	0.399000	0.25367	0.563000	0.77884	CCG		0.607	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		52	102	1	0	9.57592e-29	0.00361	1.75893e-28	52	102				
HHIPL1	84439	broad.mit.edu	37	14	100118631	100118631	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:100118631G>T	ENST00000330710.5	+	2	424	c.326G>T	c.(325-327)gGg>gTg	p.G109V	HHIPL1_ENST00000357223.2_Missense_Mutation_p.G109V	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	109					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)	p.G109V(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				ACGGTGCCCGGGCTCTGCCAG	0.612																																							uc010avs.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(325-327)GGG>GTG		HHIP-like protein 1 isoform a							64.0	64.0	64.0					14																	100118631		2203	4300	6503	SO:0001583	missense	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100118631G>T	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.326G>T	14.37:g.100118631G>T	ENSP00000330601:p.Gly109Val					HHIPL1_uc001ygl.1_Missense_Mutation_p.G109V	p.G109V	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN			2	391	+		Melanoma(154;0.128)	109					A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	ENST00000330710.5	37	c.326G>T	CCDS45162.1	.	.	.	.	.	.	.	.	.	.	g	19.39	3.817528	0.70912	.	.	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.37058	1.22;1.22	4.8	4.8	0.61643	Folate receptor-like (1);	0.000000	0.85682	D	0.000000	T	0.54870	0.1885	L	0.60845	1.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.47275	-0.9130	10	0.14252	T	0.57	.	18.2331	0.89941	0.0:0.0:1.0:0.0	.	109;109	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	V	109	ENSP00000330601:G109V;ENSP00000349757:G109V	ENSP00000330601:G109V	G	+	2	0	HHIPL1	99188384	1.000000	0.71417	0.998000	0.56505	0.903000	0.53119	9.869000	0.99810	2.354000	0.79902	0.655000	0.94253	GGG		0.612	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		31	81	1	0	3.80469e-20	0.009535	6.20724e-20	31	81				
NPAP1	23742	broad.mit.edu	37	15	24922547	24922547	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:24922547C>A	ENST00000329468.2	+	1	2007	c.1533C>A	c.(1531-1533)gtC>gtA	p.V511V		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	511	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.V511V(2)									AGCCTCCCGTCACAAGGGAGT	0.537																																							uc001ywo.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(1531-1533)GTC>GTA		hypothetical protein LOC23742							183.0	194.0	190.0					15																	24922547		2203	4300	6503	SO:0001819	synonymous_variant	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24922547C>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1533C>A	15.37:g.24922547C>A							p.V511V	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	2007	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	511			Pro-rich.			Silent	SNP	ENST00000329468.2	37	c.1533C>A	CCDS10015.1																																																																																				0.537	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		113	284	1	0	1.30845e-55	0.00361	2.69206e-55	113	284				
RYR3	6263	broad.mit.edu	37	15	33872331	33872331	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:33872331C>G	ENST00000389232.4	+	13	1493	c.1423C>G	c.(1423-1425)Ctt>Gtt	p.L475V	RYR3_ENST00000415757.3_Missense_Mutation_p.L475V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	475					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.L475V(3)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGACAAAATCTTTTCAAGGA	0.443																																							uc001zhi.2		NA																	3	Substitution - Missense(3)		lung(2)|cervix(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(1423-1425)CTT>GTT		ryanodine receptor 3							37.0	37.0	37.0					15																	33872331		1909	4129	6038	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33872331C>G		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1423C>G	15.37:g.33872331C>G	ENSP00000373884:p.Leu475Val					RYR3_uc010bar.2_Missense_Mutation_p.L475V	p.L475V	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	13	1493	+		all_lung(180;7.18e-09)	475			Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.1423C>G	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519419	0.85495	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.99376	-5.79;-5.79	5.15	5.15	0.70609	Intracellular calcium-release channel (1);	0.000000	0.64402	D	0.000001	D	0.99477	0.9814	M	0.86651	2.83	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.77557	0.99;0.952	D	0.98681	1.0692	10	0.72032	D	0.01	.	18.8252	0.92115	0.0:1.0:0.0:0.0	.	475;475	Q15413-2;Q15413	.;RYR3_HUMAN	V	475	ENSP00000373884:L475V;ENSP00000399610:L475V	ENSP00000354735:L475V	L	+	1	0	RYR3	31659623	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.748000	0.62148	2.674000	0.91012	0.655000	0.94253	CTT		0.443	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			14	15	0	0	0	0.001855	0	14	15				
SEMA6D	80031	broad.mit.edu	37	15	48057248	48057248	+	Missense_Mutation	SNP	T	T	G	rs147987261		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:48057248T>G	ENST00000316364.5	+	13	1861	c.1422T>G	c.(1420-1422)caT>caG	p.H474Q	SEMA6D_ENST00000389432.2_Missense_Mutation_p.H474Q|SEMA6D_ENST00000536845.2_Missense_Mutation_p.H474Q|SEMA6D_ENST00000558816.1_Missense_Mutation_p.H474Q|SEMA6D_ENST00000354744.4_Missense_Mutation_p.H474Q|SEMA6D_ENST00000537942.1_Missense_Mutation_p.H474Q|SEMA6D_ENST00000389433.2_Missense_Mutation_p.H474Q|SEMA6D_ENST00000558014.1_Missense_Mutation_p.H474Q|SEMA6D_ENST00000389428.3_Missense_Mutation_p.H474Q|SEMA6D_ENST00000355997.3_Missense_Mutation_p.H474Q|SEMA6D_ENST00000358066.4_Missense_Mutation_p.H474Q|SEMA6D_ENST00000389425.3_Missense_Mutation_p.H474Q	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	474	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.H474Q(4)		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)		CCTACAACCATGCAAAGTAGG	0.423																																							uc010bek.2		NA																	4	Substitution - Missense(4)		lung(4)	skin(3)|breast(1)	4						c.(1420-1422)CAT>CAG		semaphorin 6D isoform 4 precursor							123.0	109.0	114.0					15																	48057248		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48057248T>G	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.1422T>G	15.37:g.48057248T>G	ENSP00000324857:p.His474Gln					SEMA6D_uc001zvw.2_Missense_Mutation_p.H474Q|SEMA6D_uc001zvx.1_Missense_Mutation_p.H474Q|SEMA6D_uc001zvy.2_Missense_Mutation_p.H474Q|SEMA6D_uc001zvz.2_Missense_Mutation_p.H474Q|SEMA6D_uc001zwa.2_Missense_Mutation_p.H474Q|SEMA6D_uc001zwb.2_Missense_Mutation_p.H474Q|SEMA6D_uc001zwc.2_Missense_Mutation_p.H474Q	p.H474Q	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	13	1782	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	474			Sema.|Extracellular (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.1422T>G	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	T	15.94	2.980261	0.53827	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.10382	2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88	5.79	-3.43	0.04810	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.647879	0.18109	N	0.151404	T	0.02649	0.0080	N	0.02830	-0.485	0.33111	D	0.540505	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.0;0.002;0.0;0.002;0.0	T	0.33292	-0.9874	10	0.27082	T	0.32	.	0.8041	0.01080	0.2534:0.1262:0.2096:0.4107	.	474;474;474;474;474	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	Q	474	ENSP00000442040:H474Q;ENSP00000446152:H474Q;ENSP00000324857:H474Q;ENSP00000374084:H474Q;ENSP00000374083:H474Q;ENSP00000346786:H474Q;ENSP00000350770:H474Q;ENSP00000374079:H474Q;ENSP00000348276:H474Q;ENSP00000374076:H474Q	ENSP00000324857:H474Q	H	+	3	2	SEMA6D	45844540	0.995000	0.38212	0.988000	0.46212	0.996000	0.88848	0.225000	0.17757	-0.503000	0.06586	0.533000	0.62120	CAT		0.423	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		17	56	0	0	0	0.006122	0	17	56				
UNC13C	440279	broad.mit.edu	37	15	54586108	54586108	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:54586108C>A	ENST00000260323.11	+	10	3834	c.3834C>A	c.(3832-3834)tcC>tcA	p.S1278S	UNC13C_ENST00000545554.1_Silent_p.S1278S|UNC13C_ENST00000537900.1_Silent_p.S1276S	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1278	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.S1278S(4)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTCATAACTCCACAGATCGAA	0.323																																							uc002ack.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(5)|pancreas(2)	7						c.(3832-3834)TCC>TCA		unc-13 homolog C							104.0	102.0	102.0					15																	54586108		1899	4118	6017	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54586108C>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3834C>A	15.37:g.54586108C>A						UNC13C_uc002acl.2_Silent_p.S108S	p.S1278S	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	9	3834	+			1278			C2 1.		Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.3834C>A	CCDS45264.1																																																																																				0.323	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		27	46	1	0	4.72057e-08	0.003954	5.50268e-08	27	46				
VPS13C	54832	broad.mit.edu	37	15	62304305	62304305	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:62304305C>A	ENST00000261517.5	-	12	957		c.e12+1		VPS13C_ENST00000395898.3_Splice_Site|VPS13C_ENST00000249837.3_Splice_Site|VPS13C_ENST00000395896.4_Splice_Site	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.?(4)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTATTACTTACTGTATTGATA	0.244																																							uc002agz.2		NA																	4	Unknown(4)		lung(4)	ovary(2)	2						c.e12+1		vacuolar protein sorting 13C protein isoform 2A							28.0	32.0	31.0					15																	62304305		2161	4264	6425	SO:0001630	splice_region_variant	54832				protein localization			g.chr15:62304305C>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.883+1G>T	15.37:g.62304305C>A						VPS13C_uc002aha.2_Splice_Site_p.I252_splice|VPS13C_uc002ahb.1_Splice_Site_p.I295_splice|VPS13C_uc002ahc.1_Splice_Site_p.I252_splice	p.I295_splice	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			12	957	-									Splice_Site	SNP	ENST00000261517.5	37	c.883_splice	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541885	0.85917	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9422	0.97170	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VPS13C	60091597	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.320000	0.65841	2.890000	0.99128	0.650000	0.86243	.		0.244	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	Intron	7	29	1	0	8.12818e-05	0.001984	8.70246e-05	7	29				
HERC1	8925	broad.mit.edu	37	15	63987027	63987027	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:63987027G>C	ENST00000443617.2	-	28	5275	c.5188C>G	c.(5188-5190)Caa>Gaa	p.Q1730E	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1730					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.Q1730E(4)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GACAACTGTTGATAAATTTTA	0.378																																							uc002amp.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(5188-5190)CAA>GAA		hect domain and RCC1-like domain 1							113.0	106.0	108.0					15																	63987027		1841	4098	5939	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63987027G>C	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.5188C>G	15.37:g.63987027G>C	ENSP00000390158:p.Gln1730Glu						p.Q1730E	NM_003922	NP_003913	Q15751	HERC1_HUMAN			28	5336	-			1730					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.5188C>G	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.906887	0.72868	.	.	ENSG00000103657	ENST00000443617	T	0.24908	1.83	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	T	0.40619	0.1124	L	0.29908	0.895	0.80722	D	1	P	0.49447	0.924	P	0.62298	0.9	T	0.16364	-1.0405	10	0.66056	D	0.02	.	19.7578	0.96301	0.0:0.0:1.0:0.0	.	1730	Q15751	HERC1_HUMAN	E	1730	ENSP00000390158:Q1730E	ENSP00000390158:Q1730E	Q	-	1	0	HERC1	61774080	1.000000	0.71417	0.991000	0.47740	0.975000	0.68041	9.672000	0.98629	2.748000	0.94277	0.655000	0.94253	CAA		0.378	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		20	51	0	0	0	0.010504	0	20	51				
MAP2K1	5604	broad.mit.edu	37	15	66729153	66729153	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:66729153T>A	ENST00000307102.5	+	3	892	c.361T>A	c.(361-363)Tgc>Agc	p.C121S		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	121	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)	p.C121S(4)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	TCTGCATGAGTGCAACTCTCC	0.502																																							uc010bhq.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(361-363)TGC>AGC		mitogen-activated protein kinase kinase 1							161.0	124.0	136.0					15																	66729153		2201	4299	6500	SO:0001583	missense	5604	Cardiofaciocutaneous_syndrome			activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:66729153T>A	L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.361T>A	15.37:g.66729153T>A	ENSP00000302486:p.Cys121Ser					MAP2K1_uc010ujp.1_Missense_Mutation_p.C99S	p.C121S	NM_002755	NP_002746	Q02750	MP2K1_HUMAN			3	836	+			121			Protein kinase.			Missense_Mutation	SNP	ENST00000307102.5	37	c.361T>A	CCDS10216.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	31|31	5.080315|5.080315	0.94050|0.94050	.|.	.|.	ENSG00000169032|ENSG00000169032	ENST00000307102|ENST00000425818	T|.	0.64085|.	-0.08|.	5.15|5.15	5.15|5.15	0.70609|0.70609	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|T	0.59155|0.59155	0.2173|0.2173	L|L	0.39692|0.39692	1.235|1.235	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.79784|.	0.993;0.993|.	T|T	0.56396|0.56396	-0.7986|-0.7986	10|5	0.29301|.	T|.	0.29|.	-17.2891|-17.2891	15.0077|15.0077	0.71524|0.71524	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	99;121|.	B4DFY5;Q02750|.	.;MP2K1_HUMAN|.	S|E	121|60	ENSP00000302486:C121S|.	ENSP00000302486:C121S|.	C|V	+|+	1|2	0|0	MAP2K1|MAP2K1	64516207|64516207	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.924000|7.924000	0.87555|0.87555	1.934000|1.934000	0.56057|0.56057	0.533000|0.533000	0.62120|0.62120	TGC|GTG		0.502	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256906.4			37	68	0	0	0	0.003755	0	37	68				
LINGO1	84894	broad.mit.edu	37	15	77907260	77907260	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:77907260G>T	ENST00000355300.6	-	2	1163	c.989C>A	c.(988-990)gCc>gAc	p.A330D	LINGO1_ENST00000561030.1_Missense_Mutation_p.A324D	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	330					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A324D(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GCCGCGGAAGGCATAGGGCTC	0.617																																							uc002bct.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(988-990)GCC>GAC		leucine-rich repeat neuronal 6A							58.0	59.0	59.0					15																	77907260		2151	4247	6398	SO:0001583	missense	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77907260G>T	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.989C>A	15.37:g.77907260G>T	ENSP00000347451:p.Ala330Asp					LINGO1_uc002bcu.1_Missense_Mutation_p.A324D	p.A330D	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN			2	1041	-			330			Extracellular (Potential).|LRR 10.		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	c.989C>A	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805505	0.70682	.	.	ENSG00000169783	ENST00000355300	T	0.60797	0.16	5.08	5.08	0.68730	.	0.051290	0.85682	D	0.000000	T	0.75737	0.3890	M	0.76838	2.35	0.80722	D	1	D	0.76494	0.999	P	0.62740	0.906	T	0.79855	-0.1627	10	0.87932	D	0	.	18.4662	0.90755	0.0:0.0:1.0:0.0	.	330	Q96FE5	LIGO1_HUMAN	D	330	ENSP00000347451:A330D	ENSP00000347451:A330D	A	-	2	0	LINGO1	75694315	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	9.869000	0.99810	2.363000	0.80096	0.462000	0.41574	GCC		0.617	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		11	17	1	0	1.08611e-07	0.000978	1.25308e-07	11	17				
MESDC1	59274	broad.mit.edu	37	15	81295579	81295579	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:81295579A>G	ENST00000267984.2	+	1	2285	c.967A>G	c.(967-969)Agg>Ggg	p.R323G		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	323								p.R323G(1)		endometrium(1)|lung(2)	3						GTCGGACCACAGGGAGAGGCT	0.662																																							uc002bfz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(967-969)AGG>GGG		mesoderm development candidate 1							13.0	17.0	15.0					15																	81295579		2198	4294	6492	SO:0001583	missense	59274							g.chr15:81295579A>G	AY007810	CCDS10316.1	15q13	2008-07-18			ENSG00000140406	ENSG00000140406			13519	protein-coding gene	gene with protein product		615466				11247670	Standard	NM_022566		Approved	MGC99595	uc002bfz.3	Q9H1K6	OTTHUMG00000144185	ENST00000267984.2:c.967A>G	15.37:g.81295579A>G	ENSP00000267984:p.Arg323Gly						p.R323G	NM_022566	NP_072088	Q9H1K6	MESD1_HUMAN			1	2285	+			323						Missense_Mutation	SNP	ENST00000267984.2	37	c.967A>G	CCDS10316.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.908924	0.52439	.	.	ENSG00000140406	ENST00000267984	.	.	.	5.07	2.52	0.30459	.	0.063172	0.56097	U	0.000030	T	0.42177	0.1191	L	0.29908	0.895	0.47065	D	0.999302	P	0.44139	0.827	B	0.43575	0.424	T	0.32348	-0.9910	9	0.48119	T	0.1	-15.1867	11.3603	0.49640	0.7122:0.2878:0.0:0.0	.	323	Q9H1K6	MESD1_HUMAN	G	323	.	ENSP00000267984:R323G	R	+	1	2	MESDC1	79082634	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.065000	0.64344	0.743000	0.32719	0.448000	0.29417	AGG		0.662	MESDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291390.1	NM_022566		4	11	0	0	0	0.001168	0	4	11				
IL16	3603	broad.mit.edu	37	15	81585042	81585042	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:81585042G>T	ENST00000302987.4	+	11	1566	c.1566G>T	c.(1564-1566)ggG>ggT	p.G522G	IL16_ENST00000394660.2_Silent_p.G522G			Q14005	IL16_HUMAN	interleukin 16	522					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G522G(4)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GGTCCCCAGGGGGAAGTCCTG	0.607																																							uc002bgh.3		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(2)|lung(1)|skin(1)	4						c.(1564-1566)GGG>GGT		interleukin 16 isoform 2							44.0	50.0	48.0					15																	81585042		2036	4202	6238	SO:0001819	synonymous_variant	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81585042G>T	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.1566G>T	15.37:g.81585042G>T						IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Silent_p.G522G|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Silent_p.G564G|IL16_uc002bgg.2_Silent_p.G522G|IL16_uc002bgi.1_5'UTR|IL16_uc002bgj.2_Silent_p.G16G|IL16_uc002bgk.2_5'Flank	p.G522G	NM_172217	NP_757366	Q14005	IL16_HUMAN			12	1942	+			522					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Silent	SNP	ENST00000302987.4	37	c.1566G>T	CCDS42069.1																																																																																				0.607	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		22	50	1	0	2.32416e-17	0.002299	3.6338e-17	22	50				
AP3B2	8120	broad.mit.edu	37	15	83349376	83349376	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:83349376G>T	ENST00000261722.3	-	8	1110	c.903C>A	c.(901-903)gaC>gaA	p.D301E	AP3B2_ENST00000535359.1_Missense_Mutation_p.D301E|AP3B2_ENST00000535348.1_Missense_Mutation_p.D269E|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	301					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.D301E(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GCAGCCGGTGGTCGGGGTCCA	0.706																																							uc010uoh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|pancreas(1)	5						c.(901-903)GAC>GAA		adaptor-related protein complex 3, beta 2							9.0	11.0	10.0					15																	83349376		1781	3935	5716	SO:0001583	missense	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83349376G>T	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.903C>A	15.37:g.83349376G>T	ENSP00000261722:p.Asp301Glu					AP3B2_uc010uoi.1_Missense_Mutation_p.D301E|AP3B2_uc010uoj.1_Missense_Mutation_p.D269E|AP3B2_uc010uog.1_5'Flank	p.D301E	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		8	1080	-			301					A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	c.903C>A	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.327053	0.60743	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.24350	1.86;1.86;1.86	4.9	-0.937	0.10415	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.045781	0.85682	D	0.000000	T	0.49270	0.1547	M	0.87180	2.865	0.80722	D	1	P;D;D	0.89917	0.57;1.0;1.0	B;D;D	0.91635	0.301;0.999;0.999	T	0.52102	-0.8620	10	0.87932	D	0	-21.5176	9.1621	0.37030	0.4364:0.0:0.5636:0.0	.	269;301;301	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	E	301;269;301	ENSP00000261722:D301E;ENSP00000438721:D269E;ENSP00000440984:D301E	ENSP00000261722:D301E	D	-	3	2	AP3B2	81146430	1.000000	0.71417	0.896000	0.35187	0.021000	0.10359	2.522000	0.45572	-0.066000	0.12998	-0.136000	0.14681	GAC		0.706	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			6	18	1	0	0.00198382	0.001984	0.00206506	6	18				
AKAP13	11214	broad.mit.edu	37	15	86266326	86266326	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:86266326C>A	ENST00000394518.2	+	26	6615	c.6520C>A	c.(6520-6522)Cta>Ata	p.L2174I	AKAP13_ENST00000394510.2_Missense_Mutation_p.L419I|AKAP13_ENST00000361243.2_Missense_Mutation_p.L2178I|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2174	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.|Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.L2178I(2)|p.L254I(2)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GCAGGAAGATCTAGCACAGTC	0.418																																					Melanoma(94;603 1453 3280 32295 32951)	Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1		NA																	4	Substitution - Missense(4)		lung(4)	central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(6520-6522)CTA>ATA		A-kinase anchor protein 13 isoform 2							108.0	98.0	102.0					15																	86266326		2202	4299	6501	SO:0001583	missense	11214				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|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86266326C>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.6520C>A	15.37:g.86266326C>A	ENSP00000378026:p.Leu2174Ile					AKAP13_uc002blu.1_Missense_Mutation_p.L2178I|AKAP13_uc010bnf.1_Missense_Mutation_p.L795I|AKAP13_uc002blw.1_Missense_Mutation_p.L639I|AKAP13_uc002blx.1_Missense_Mutation_p.L419I	p.L2174I	NM_007200	NP_009131	Q12802	AKP13_HUMAN			26	6690	+			2174			Interaction with ESR1.|DH.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.6520C>A	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487663	0.84854	.	.	ENSG00000170776	ENST00000426424;ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.70869	-0.52;-0.52;-0.52	5.83	1.58	0.23477	Dbl homology (DH) domain (5);	.	.	.	.	T	0.74913	0.3779	L	0.42245	1.32	0.20307	N	0.999911	D;D;D	0.60160	0.984;0.987;0.984	D;D;D	0.83275	0.993;0.996;0.993	T	0.61227	-0.7105	9	0.62326	D	0.03	.	5.7883	0.18347	0.0:0.3481:0.4047:0.2472	.	2154;2174;2178	Q12802-4;Q12802;Q12802-2	.;AKP13_HUMAN;.	I	254;2178;2174;2177;2153;419	ENSP00000354718:L2178I;ENSP00000378026:L2174I;ENSP00000378018:L419I	ENSP00000354718:L2178I	L	+	1	2	AKAP13	84067330	0.034000	0.19679	0.001000	0.08648	0.854000	0.48673	0.143000	0.16115	0.033000	0.15463	0.655000	0.94253	CTA		0.418	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		19	48	1	0	2.94398e-08	0.007413	3.44704e-08	19	48				
AGBL1	123624	broad.mit.edu	37	15	86702201	86702201	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:86702201G>T	ENST00000441037.2	+	4	389	c.294G>T	c.(292-294)atG>atT	p.M98I	AGBL1_ENST00000421325.2_Missense_Mutation_p.M98I	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	98					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.M98I(2)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGGAGCCATGGAACTGCTTT	0.443																																							uc002blz.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(292-294)ATG>ATT		ATP/GTP binding protein-like 1							150.0	136.0	140.0					15																	86702201		1912	4122	6034	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86702201G>T	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.294G>T	15.37:g.86702201G>T	ENSP00000413001:p.Met98Ile						p.M98I	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN			4	374	+			98					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.294G>T	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.143870	0.37825	.	.	ENSG00000166748	ENST00000441037;ENST00000421325	T	0.48836	0.8	5.01	5.01	0.66863	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.47563	0.1452	M	0.69823	2.125	0.80722	D	1	P	0.34724	0.465	B	0.33690	0.168	T	0.47355	-0.9124	9	0.33940	T	0.23	-12.7024	14.1673	0.65486	0.0:0.0:1.0:0.0	.	98	Q96MI9	CBPC4_HUMAN	I	127;98	ENSP00000397173:M98I	ENSP00000397173:M98I	M	+	3	0	AGBL1	84503205	1.000000	0.71417	0.999000	0.59377	0.689000	0.40095	5.401000	0.66326	2.478000	0.83669	0.655000	0.94253	ATG		0.443	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		38	82	1	0	4.4882e-36	0.009718	8.77594e-36	38	82				
ACAN	176	broad.mit.edu	37	15	89400186	89400186	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:89400186T>C	ENST00000561243.1	+	11	4370	c.4370T>C	c.(4369-4371)cTa>cCa	p.L1457P	ACAN_ENST00000352105.7_Missense_Mutation_p.L1457P|ACAN_ENST00000559004.1_Missense_Mutation_p.L1457P|ACAN_ENST00000439576.2_Missense_Mutation_p.L1457P			P16112	PGCA_HUMAN	aggrecan	1461	29 X 19 AA approximate tandem repeats of E-[IVDG]-[LV]-[EV]-[GTI]-[STA]-[ATV]- [SP]-[GA]-[VIFAD]-[GEDL]-[DE]-[LVI]-[SG]- [GERK]-[LV]-P-S-G.|CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.L1343P(4)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGAGAAGTTCTAGAGACTTCT	0.517																																							uc010upo.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|central_nervous_system(1)	3						c.(4369-4371)CTA>CCA		aggrecan isoform 2 precursor							103.0	104.0	104.0					15																	89400186		1840	4087	5927	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89400186T>C	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.4370T>C	15.37:g.89400186T>C	ENSP00000453342:p.Leu1457Pro					ACAN_uc010upp.1_Missense_Mutation_p.L1457P|ACAN_uc002bna.2_RNA	p.L1457P	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	4744	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1457					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.4370T>C	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	-	13.88	2.367707	0.42003	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.95518	-3.73;-3.73	3.22	-4.37	0.03633	.	.	.	.	.	D	0.88858	0.6551	N	0.25060	0.705	0.28564	N	0.91098	B;B	0.15141	0.01;0.012	B;B	0.22880	0.007;0.042	T	0.76713	-0.2858	9	0.30078	T	0.28	1.9551	8.591	0.33688	0.0:0.3726:0.0:0.6274	.	1457;1457	E7ENV9;E7EX88	.;.	P	1457;1457;1343	ENSP00000387356:L1457P;ENSP00000341615:L1457P	ENSP00000268134:L1343P	L	+	2	0	ACAN	87201190	0.737000	0.28175	0.028000	0.17463	0.105000	0.19272	1.571000	0.36450	-0.850000	0.04152	-0.464000	0.05259	CTA		0.517	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		84	148	0	0	0	0.00361	0	84	148				
TICRR	90381	broad.mit.edu	37	15	90138748	90138748	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:90138748G>T	ENST00000268138.7	+	7	1911	c.1806G>T	c.(1804-1806)gtG>gtT	p.V602V	TICRR_ENST00000560985.1_Silent_p.V601V			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	602					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.V602V(2)									GTCCGGATGTGGCTGGGGAGA	0.443																																							uc002boe.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(1804-1806)GTG>GTT		leucine-rich repeat kinase 1							108.0	103.0	105.0					15																	90138748		1876	4111	5987	SO:0001819	synonymous_variant	90381				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	g.chr15:90138748G>T	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.1806G>T	15.37:g.90138748G>T							p.V602V	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		7	1806	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		602					B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	ENST00000268138.7	37	c.1806G>T	CCDS10352.2																																																																																				0.443	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		20	59	1	0	1.01871e-10	0.008871	1.31168e-10	20	59				
ADAMTS17	170691	broad.mit.edu	37	15	100672318	100672318	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:100672318G>T	ENST00000268070.4	-	12	1720	c.1615C>A	c.(1615-1617)Ccg>Acg	p.P539T	RP11-90E5.1_ENST00000560128.1_RNA	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	539	Disintegrin.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P539T(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ACATGCTCCGGGATGGGCGTC	0.672											OREG0023513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002bvv.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(1615-1617)CCG>ACG		ADAM metallopeptidase with thrombospondin type 1							31.0	32.0	32.0					15																	100672318		2203	4299	6502	SO:0001583	missense	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100672318G>T	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.1615C>A	15.37:g.100672318G>T	ENSP00000268070:p.Pro539Thr		OREG0023513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1353	ADAMTS17_uc002bvx.1_Missense_Mutation_p.P296T	p.P539T	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	12	1694	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		539			Disintegrin.		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	c.1615C>A	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933049	0.92458	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	T	0.65916	-0.18	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.79616	0.4476	M	0.82056	2.57	0.80722	D	1	D;D	0.76494	0.965;0.999	P;D	0.66084	0.814;0.941	T	0.79797	-0.1652	10	0.40728	T	0.16	.	18.8106	0.92056	0.0:0.0:1.0:0.0	.	296;539	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	T	539;296	ENSP00000268070:P539T	ENSP00000268070:P539T	P	-	1	0	ADAMTS17	98489841	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	9.093000	0.94163	2.423000	0.82170	0.561000	0.74099	CCG		0.672	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		7	30	1	0	0.00621372	0.006214	0.00639218	7	30				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																							uc002cdi.2		NA																	10	Substitution - Missense(10)		kidney(7)|prostate(2)|endometrium(1)		0						c.(523-525)GGC>AGC		RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2;																																						374666							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A						WASH3P_uc002cdl.2_Missense_Mutation_p.G175S|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.G175S|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA	p.G175S	NR_003659						9	1943	+									Missense_Mutation	SNP	ENST00000557932.1	37	c.523G>A		.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		3	14	0	0	0	0.009096	0	3	14				
WDR90	197335	broad.mit.edu	37	16	715997	715997	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:715997G>A	ENST00000293879.4	+	36	4482	c.4482G>A	c.(4480-4482)gaG>gaA	p.E1494E	WDR90_ENST00000547944.1_Silent_p.E93E|WDR90_ENST00000315764.4_Silent_p.E93E|RHOT2_ENST00000315082.4_5'Flank|WDR90_ENST00000549091.1_Silent_p.E1496E|WDR90_ENST00000547543.1_3'UTR			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1494								p.E1494E(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GCCGCCCTGAGCAGCAGCGGC	0.687																																							uc002cii.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(4480-4482)GAG>GAA		WD repeat domain 90							28.0	33.0	32.0					16																	715997		2011	4102	6113	SO:0001819	synonymous_variant	197335							g.chr16:715997G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.4482G>A	16.37:g.715997G>A						WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_RNA|WDR90_uc002cin.1_Silent_p.E109E|WDR90_uc010uul.1_Silent_p.E93E|WDR90_uc002cio.1_Silent_p.E93E|WDR90_uc010bqx.1_Silent_p.E93E|RHOT2_uc010uum.1_5'Flank|RHOT2_uc002cip.2_5'Flank|RHOT2_uc002ciq.2_5'Flank	p.E1494E	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			36	4536	+		Hepatocellular(780;0.0218)	1494			WD 18.		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	ENST00000293879.4	37	c.4482G>A	CCDS42092.1																																																																																				0.687	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		14	33	0	0	0	0.010504	0	14	33				
CACNA1H	8912	broad.mit.edu	37	16	1261227	1261227	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:1261227G>T	ENST00000348261.5	+	22	4531	c.4283G>T	c.(4282-4284)aGg>aTg	p.R1428M	CACNA1H_ENST00000565831.1_Missense_Mutation_p.R1428M|CACNA1H_ENST00000358590.4_Missense_Mutation_p.R1428M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1428					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)	p.R1428M(4)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TCATCACTCAGGCCCATTGGG	0.597																																							uc002cks.2		NA																	4	Substitution - Missense(4)		lung(4)	breast(2)	2						c.(4282-4284)AGG>ATG		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Mibefradil(DB01388)						103.0	116.0	112.0					16																	1261227		2164	4254	6418	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1261227G>T	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.4283G>T	16.37:g.1261227G>T	ENSP00000334198:p.Arg1428Met					CACNA1H_uc002ckt.2_Missense_Mutation_p.R1428M|CACNA1H_uc002cku.2_Missense_Mutation_p.R134M|CACNA1H_uc010brj.2_Missense_Mutation_p.R134M|CACNA1H_uc002ckv.2_Missense_Mutation_p.R134M	p.R1428M	NM_021098	NP_066921	O95180	CAC1H_HUMAN			22	4531	+		Hepatocellular(780;0.00369)	1428			Cytoplasmic (Potential).|III.		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.4283G>T	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471093	0.63625	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.97688	-4.49;-4.49	4.35	4.35	0.52113	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98460	0.9487	M	0.73753	2.245	0.44006	D	0.996711	D;D;D;P;D	0.89917	1.0;0.999;1.0;0.549;0.997	D;D;D;P;D	0.81914	0.993;0.99;0.984;0.557;0.995	D	0.99466	1.0944	10	0.87932	D	0	.	16.3749	0.83382	0.0:0.0:1.0:0.0	.	169;169;169;1428;1428	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	M	1428	ENSP00000334198:R1428M;ENSP00000351401:R1428M	ENSP00000334198:R1428M	R	+	2	0	CACNA1H	1201228	1.000000	0.71417	0.997000	0.53966	0.368000	0.29767	3.080000	0.50112	2.414000	0.81942	0.491000	0.48974	AGG		0.597	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		86	73	1	0	1.26005e-42	0.00361	2.51373e-42	86	73				
FLYWCH2	114984	broad.mit.edu	37	16	2946481	2946482	+	Missense_Mutation	DNP	GG	GG	TT	rs145971095		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:2946481_2946482GG>TT	ENST00000396958.3	+	3	411_412	c.31_32GG>TT	c.(31-33)GGt>TTt	p.G11F	FLYWCH2_ENST00000572006.1_Missense_Mutation_p.G11F|FLYWCH2_ENST00000293981.6_Missense_Mutation_p.G11F	NM_001142500.1|NM_138439.2	NP_001135972.1|NP_612448.1	Q96CP2	FWCH2_HUMAN	FLYWCH family member 2	11							poly(A) RNA binding (GO:0044822)	p.G11F(2)		central_nervous_system(1)|lung(3)|ovary(1)|skin(1)	6						CGAGCAGGAGGGTGAGAGTGTG	0.658																																							uc002csa.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(31-33)GGT>TTT		FLYWCH family member 2																																				SO:0001583	missense	114984							g.chr16:2946481_2946482GG>TT	BC014089	CCDS10482.1	16p13.3	2014-02-12	2007-06-21		ENSG00000162076	ENSG00000162076			25178	protein-coding gene	gene with protein product						12477932	Standard	NM_138439		Approved		uc010uwk.2	Q96CP2	OTTHUMG00000128962	Exception_encountered	16.37:g.2946481_2946482delinsTT	ENSP00000380159:p.Gly11Phe					FLYWCH2_uc010uwj.1_Missense_Mutation_p.G11F|FLYWCH2_uc010uwk.1_Missense_Mutation_p.G11F	p.G11F	NM_138439	NP_612448	Q96CP2	FWCH2_HUMAN			3	402_403	+			11						Missense_Mutation	DNP	ENST00000396958.3	37	c.31_32GG>TT	CCDS10482.1																																																																																				0.658	FLYWCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250944.1	NM_138439		27	61	0	0	0	0.004672	0	27	61				
NLRC3	197358	broad.mit.edu	37	16	3613223	3613223	+	RNA	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:3613223T>A	ENST00000301749.7	-	0	2120				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000419350.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.H619L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGCAGCTCATGCAGGCAGTG	0.716																																							uc010btn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(1714-1716)CAT>CTT		NOD3 protein							11.0	14.0	13.0					16																	3613223		2123	4220	6343			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3613223T>A	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613223T>A							p.H572L	NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN			5	2126	-			572					Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	ENST00000301749.7	37	c.1715A>T		.	.	.	.	.	.	.	.	.	.	t	1.172	-0.640654	0.03557	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	4.89	1.19	0.21007	.	0.482456	0.22740	N	0.056206	T	0.61986	0.2391	.	.	.	0.09310	N	0.99999	B	0.13145	0.007	B	0.12156	0.007	T	0.41106	-0.9527	9	0.11485	T	0.65	.	3.583	0.07961	0.1627:0.3073:0.0:0.53	.	619	C9JLH9	.	L	572;572;572;619;554	ENSP00000301749:H572L;ENSP00000352039:H572L;ENSP00000414415:H619L;ENSP00000323897:H554L	ENSP00000301749:H572L	H	-	2	0	NLRC3	3553224	0.957000	0.32711	0.058000	0.19502	0.011000	0.07611	1.613000	0.36900	-0.068000	0.12953	-0.253000	0.11424	CAT		0.716	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		3	9	0	0	0	0.004672	0	3	9				
ADCY9	115	broad.mit.edu	37	16	4164474	4164474	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:4164474C>T	ENST00000294016.3	-	2	1508	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	324					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|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)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.E324K(2)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTTTCCACTTCCAGGTCCTTC	0.522																																							uc002cvx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(970-972)GAA>AAA		adenylate cyclase 9							136.0	132.0	133.0					16																	4164474		2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4164474C>T	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.970G>A	16.37:g.4164474C>T	ENSP00000294016:p.Glu324Lys						p.E324K	NM_001116	NP_001107	O60503	ADCY9_HUMAN			2	1509	-			324			Cytoplasmic (Potential).		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.970G>A	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287375	0.80803	.	.	ENSG00000162104	ENST00000294016	D	0.85339	-1.97	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.92446	0.7602	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92876	0.6319	10	0.72032	D	0.01	.	19.2808	0.94052	0.0:1.0:0.0:0.0	.	324	O60503	ADCY9_HUMAN	K	324	ENSP00000294016:E324K	ENSP00000294016:E324K	E	-	1	0	ADCY9	4104475	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.818000	0.86416	2.574000	0.86865	0.555000	0.69702	GAA		0.522	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			55	163	0	0	0	0.00361	0	55	163				
MYH11	4629	broad.mit.edu	37	16	15829246	15829246	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:15829246G>T	ENST00000300036.5	-	26	3592	c.3483C>A	c.(3481-3483)agC>agA	p.S1161R	MYH11_ENST00000452625.2_Missense_Mutation_p.S1168R|MYH11_ENST00000396324.3_Missense_Mutation_p.S1168R|MYH11_ENST00000576790.2_Missense_Mutation_p.S1161R|AF001548.5_ENST00000574212.1_RNA	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1161					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.S1168R(2)|p.S1161R(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GAGTGGCTGTGCTGTCCAGTG	0.602			T	CBFB	AML																																		uc002ddy.2		NA		Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		4	Substitution - Missense(4)		lung(4)	ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(3481-3483)AGC>AGA		smooth muscle myosin heavy chain 11 isoform							132.0	110.0	118.0					16																	15829246		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15829246G>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.3483C>A	16.37:g.15829246G>T	ENSP00000300036:p.Ser1161Arg					MYH11_uc002ddv.2_Missense_Mutation_p.S1168R|MYH11_uc002ddw.2_Missense_Mutation_p.S1161R|MYH11_uc002ddx.2_Missense_Mutation_p.S1168R|MYH11_uc010bvg.2_Missense_Mutation_p.S993R	p.S1161R	NM_002474	NP_002465	P35749	MYH11_HUMAN			26	3590	-			1161			Potential.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.3483C>A	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102327	0.76983	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.19	5.19	0.71726	Myosin tail (1);	0.110622	0.64402	D	0.000010	D	0.87842	0.6279	M	0.74881	2.28	0.52501	D	0.999953	P;P;P;P;P	0.40909	0.621;0.732;0.732;0.732;0.562	P;P;P;P;P	0.61003	0.493;0.882;0.882;0.882;0.742	D	0.88754	0.3252	10	0.87932	D	0	.	17.73	0.88375	0.0:0.0:1.0:0.0	.	1168;1161;1168;1161;1168	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	R	1161;1161;1168;1168;1168	ENSP00000300036:S1161R;ENSP00000345136:S1161R;ENSP00000379616:S1168R;ENSP00000407821:S1168R	ENSP00000300036:S1161R	S	-	3	2	MYH11	15736747	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	3.229000	0.51278	2.420000	0.82092	0.442000	0.29010	AGC		0.602	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		24	82	1	0	2.08457e-15	0.002096	3.09932e-15	24	82				
ANKS4B	257629	broad.mit.edu	37	16	21261202	21261202	+	Silent	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:21261202T>A	ENST00000311620.5	+	2	388	c.315T>A	c.(313-315)gcT>gcA	p.A105A		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	105					response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)		p.A105A(2)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		TGGATGCTGCTGCCAGCAGGG	0.542																																							uc010bwp.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(313-315)GCT>GCA		harmonin-interacting ankyrin-repeat containing							74.0	73.0	73.0					16																	21261202		2081	4225	6306	SO:0001819	synonymous_variant	257629							g.chr16:21261202T>A	AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.315T>A	16.37:g.21261202T>A						CRYM_uc010bwq.1_Intron	p.A105A	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN		GBM - Glioblastoma multiforme(48;0.0565)	2	358	+			105			ANK 3.			Silent	SNP	ENST00000311620.5	37	c.315T>A	CCDS42130.1																																																																																				0.542	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1	NM_145865		26	71	0	0	0	0.005443	0	26	71				
TNRC6A	27327	broad.mit.edu	37	16	24817548	24817548	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:24817548A>G	ENST00000395799.3	+	16	4402	c.4273A>G	c.(4273-4275)Agg>Ggg	p.R1425G	TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1376G|CTD-2515A14.1_ENST00000568895.1_RNA	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1425					cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R1425G(2)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GCAGCAGCAAAGGGCGCAGAG	0.512																																							uc002dmm.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(4273-4275)AGG>GGG		trinucleotide repeat containing 6A							79.0	66.0	71.0					16																	24817548		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24817548A>G	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.4273A>G	16.37:g.24817548A>G	ENSP00000379144:p.Arg1425Gly					TNRC6A_uc010bxs.2_Missense_Mutation_p.R1172G|TNRC6A_uc002dmn.2_Missense_Mutation_p.R1123G|TNRC6A_uc002dmo.2_Missense_Mutation_p.R1064G|TNRC6A_uc002dmp.2_Missense_Mutation_p.R26G|TNRC6A_uc002dmq.2_Missense_Mutation_p.R92G	p.R1425G	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	16	4387	+			1425					C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.4273A>G	CCDS10624.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.84|19.84	3.901412|3.901412	0.72754|0.72754	.|.	.|.	ENSG00000090905|ENSG00000090905	ENST00000450465|ENST00000315183;ENST00000395799	.|T;T	.|0.11385	.|2.78;2.79	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	.|0.172510	.|0.50627	.|D	.|0.000119	T|T	0.09247|0.09247	0.0228|0.0228	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|P;B;B;B	.|0.35272	.|0.493;0.361;0.275;0.156	.|B;B;B;B	.|0.30646	.|0.053;0.118;0.037;0.037	T|T	0.14896|0.14896	-1.0456|-1.0456	5|10	.|0.49607	.|T	.|0.09	-13.0292|-13.0292	16.8061|16.8061	0.85666|0.85666	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|92;564;1376;1425	.|B3KSX2;C9JA83;Q8NDV7-6;Q8NDV7	.|.;.;.;TNR6A_HUMAN	R|G	315|1376;1425	.|ENSP00000326900:R1376G;ENSP00000379144:R1425G	.|ENSP00000326900:R1376G	K|R	+|+	2|1	0|2	TNRC6A|TNRC6A	24725049|24725049	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.111000|8.111000	0.89564|0.89564	2.367000|2.367000	0.80283|0.80283	0.528000|0.528000	0.53228|0.53228	AAG|AGG		0.512	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		25	94	0	0	0	0.005443	0	25	94				
IL27	246778	broad.mit.edu	37	16	28515060	28515060	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:28515060G>T	ENST00000356897.1	-	3	281	c.259C>A	c.(259-261)Ctc>Atc	p.L87I		NM_145659.3	NP_663634.2	Q8TAD2	IL17D_HUMAN	interleukin 27	0					inflammatory response (GO:0006954)	extracellular space (GO:0005615)		p.L87I(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						ACATCAGGGAGCTGCTCTCCC	0.647																																							uc002dqc.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(259-261)CTC>ATC		interleukin 27 precursor							39.0	42.0	41.0					16																	28515060		2197	4300	6497	SO:0001583	missense	246778				inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding	g.chr16:28515060G>T	AY099296	CCDS10633.1	16p11	2011-07-21	2003-12-17	2003-12-19	ENSG00000197272	ENSG00000197272		"""Interleukins and interleukin receptors"""	19157	protein-coding gene	gene with protein product		608273	"""interleukin 30"""	IL30		12121660	Standard	NM_145659		Approved	IL-27, p28, IL27p28, IL-27A, IL27A, MGC71873	uc002dqc.3	Q8NEV9	OTTHUMG00000097023	ENST00000356897.1:c.259C>A	16.37:g.28515060G>T	ENSP00000349365:p.Leu87Ile					uc010vct.1_Intron	p.L87I	NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN			3	282	-			87					B1AM69	Missense_Mutation	SNP	ENST00000356897.1	37	c.259C>A	CCDS10633.1	.	.	.	.	.	.	.	.	.	.	G	5.805	0.332896	0.11013	.	.	ENSG00000197272	ENST00000356897	T	0.45668	0.89	4.37	-1.08	0.09936	.	0.556583	0.15060	N	0.282806	T	0.33818	0.0876	L	0.52573	1.65	0.09310	N	1	B	0.22683	0.073	B	0.27887	0.084	T	0.34477	-0.9827	10	0.52906	T	0.07	-5.6112	7.6589	0.28392	0.4907:0.0:0.5093:0.0	.	87	Q8NEV9	IL27A_HUMAN	I	87	ENSP00000349365:L87I	ENSP00000349365:L87I	L	-	1	0	IL27	28422561	1.000000	0.71417	0.209000	0.23619	0.096000	0.18686	0.634000	0.24614	-0.000000	0.14550	-1.584000	0.00852	CTC		0.647	IL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214114.1	NM_145659		17	59	1	0	1.33834e-09	0.007413	1.64269e-09	17	59				
ATP2A1	487	broad.mit.edu	37	16	28906166	28906166	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:28906166C>A	ENST00000357084.3	+	12	1578	c.1311C>A	c.(1309-1311)gtC>gtA	p.V437V	ATP2A1_ENST00000395503.4_Silent_p.V437V|ATP2A1_ENST00000536376.1_Silent_p.V312V	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	437					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)	p.V437V(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						ATGAGAAGGTCGGCGAGGCCA	0.572																																							uc002dro.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1309-1311)GTC>GTA		ATPase, Ca++ transporting, fast twitch 1 isoform							60.0	51.0	54.0					16																	28906166		2197	4300	6497	SO:0001819	synonymous_variant	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28906166C>A		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1311C>A	16.37:g.28906166C>A						uc010vct.1_Intron|ATP2A1_uc002drn.1_Silent_p.V437V|ATP2A1_uc002drp.1_Silent_p.V312V	p.V437V	NM_173201	NP_775293	O14983	AT2A1_HUMAN			12	1495	+			437			Cytoplasmic (By similarity).		A8K5J9|B3KY17|O14984	Silent	SNP	ENST00000357084.3	37	c.1311C>A	CCDS10643.1																																																																																				0.572	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		13	120	1	0	5.50884e-06	0.001368	6.07978e-06	13	120				
ITGAM	3684	broad.mit.edu	37	16	31309152	31309152	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:31309152G>T	ENST00000287497.8	+	14	1659	c.1584G>T	c.(1582-1584)ggG>ggT	p.G528G	ITGAM_ENST00000544665.3_Silent_p.G529G			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	528					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)	p.G528G(2)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CAGTGCTGGGGGACGTAAATG	0.607																																							uc002ebq.2		NA																	2	Substitution - coding silent(2)		lung(2)	kidney(1)	1						c.(1582-1584)GGG>GGT		integrin alpha M isoform 2 precursor							73.0	78.0	76.0					16																	31309152		2187	4293	6480	SO:0001819	synonymous_variant	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31309152G>T	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1584G>T	16.37:g.31309152G>T						ITGAM_uc002ebr.2_Silent_p.G529G|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.2_Intron	p.G528G	NM_000632	NP_000623	P11215	ITAM_HUMAN			14	1682	+			528			FG-GAP 6.|Extracellular (Potential).		Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	ENST00000287497.8	37	c.1584G>T	CCDS45470.1																																																																																				0.607	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		32	118	1	0	1.61788e-16	0.002445	2.45171e-16	32	118				
ABCC11	85320	broad.mit.edu	37	16	48218375	48218375	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:48218375G>T	ENST00000394747.1	-	22	3583	c.3234C>A	c.(3232-3234)gtC>gtA	p.V1078V	ABCC11_ENST00000353782.5_Silent_p.V1078V|ABCC11_ENST00000356608.2_Silent_p.V1078V|ABCC11_ENST00000394748.1_Silent_p.V1078V|ABCC11_ENST00000565329.1_5'UTR	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1078	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.V1078V(2)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TGACAGCCATGACTTTAAAGG	0.562																																							uc002eff.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(3232-3234)GTC>GTA		ATP-binding cassette, sub-family C, member 11							104.0	98.0	100.0					16																	48218375		2201	4300	6501	SO:0001819	synonymous_variant	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48218375G>T	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3234C>A	16.37:g.48218375G>T						ABCC11_uc002efg.1_Silent_p.V1078V|ABCC11_uc002efh.1_Silent_p.V1078V|ABCC11_uc010cbg.1_RNA	p.V1078V	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			22	3584	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	1078			Cytoplasmic (Potential).|ABC transmembrane type-1 2.		Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	c.3234C>A	CCDS10732.1																																																																																				0.562	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		62	94	1	0	3.94896e-32	0.00361	7.51638e-32	62	94				
ZNF423	23090	broad.mit.edu	37	16	49559353	49559353	+	Silent	SNP	C	C	A	rs376719006		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:49559353C>A	ENST00000561648.1	-	6	3683	c.3630G>T	c.(3628-3630)ccG>ccT	p.P1210P	ZNF423_ENST00000562871.1_Silent_p.P1150P|ZNF423_ENST00000262383.2_Silent_p.P1210P|ZNF423_ENST00000535559.1_Silent_p.P1093P|ZNF423_ENST00000563137.2_Silent_p.P1150P|ZNF423_ENST00000567169.1_Silent_p.P1093P|ZNF423_ENST00000562520.1_Silent_p.P1150P	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1210					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P1210P(6)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGAGCTTGGCCGGGGAGTCGA	0.572																																							uc002efs.2		NA																	6	Substitution - coding silent(6)		lung(4)|large_intestine(2)	ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(3628-3630)CCG>CCT		zinc finger protein 423							115.0	95.0	102.0					16																	49559353		2199	4300	6499	SO:0001819	synonymous_variant	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49559353C>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3630G>T	16.37:g.49559353C>A						ZNF423_uc010vgn.1_Silent_p.P1093P	p.P1210P	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			7	3928	-		all_cancers(37;0.0155)	1210			C2H2-type 28.		O94860|Q76N04|Q9NZ13	Silent	SNP	ENST00000561648.1	37	c.3630G>T	CCDS32445.1																																																																																				0.572	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		33	145	1	0	5.90632e-09	0.002445	7.12739e-09	33	145				
NOD2	64127	broad.mit.edu	37	16	50744734	50744734	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:50744734C>A	ENST00000300589.2	+	4	1017	c.912C>A	c.(910-912)ggC>ggA	p.G304G	RP11-327F22.6_ENST00000602304.1_RNA|NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	304	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.G304G(2)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CGGGCAGTGGCAAGAGCACGC	0.627																																							uc002egm.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(1)	4						c.(910-912)GGC>GGA		nucleotide-binding oligomerization domain							35.0	35.0	35.0					16																	50744734		2198	4300	6498	SO:0001819	synonymous_variant	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50744734C>A	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.912C>A	16.37:g.50744734C>A						NOD2_uc010cbk.1_Silent_p.G277G|NOD2_uc002egl.1_Silent_p.G82G|NOD2_uc010cbl.1_Silent_p.G82G|NOD2_uc010cbm.1_Silent_p.G82G|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	p.G304G	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			4	1017	+		all_cancers(37;0.0156)	304			NACHT.|ATP (Potential).		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Silent	SNP	ENST00000300589.2	37	c.912C>A	CCDS10746.1																																																																																				0.627	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		11	51	1	0	1.61879e-10	0.001368	2.07416e-10	11	51				
NOD2	64127	broad.mit.edu	37	16	50745614	50745614	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:50745614C>A	ENST00000300589.2	+	4	1897	c.1792C>A	c.(1792-1794)Ccc>Acc	p.P598T	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	598	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.P598T(2)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GAGTACGGCGCCCCTGGAATT	0.567																																							uc002egm.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(1792-1794)CCC>ACC		nucleotide-binding oligomerization domain							78.0	51.0	60.0					16																	50745614		2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50745614C>A	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1792C>A	16.37:g.50745614C>A	ENSP00000300589:p.Pro598Thr					NOD2_uc010cbk.1_Missense_Mutation_p.P571T|NOD2_uc002egl.1_Missense_Mutation_p.P376T|NOD2_uc010cbl.1_Missense_Mutation_p.P376T|NOD2_uc010cbm.1_Missense_Mutation_p.P376T|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	p.P598T	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			4	1897	+		all_cancers(37;0.0156)	598			NACHT.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.1792C>A	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.421398	0.01126	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.68624	-0.34	5.31	1.1	0.20463	.	0.791551	0.11642	N	0.543683	T	0.43590	0.1254	L	0.28694	0.88	0.09310	N	1	P;B;P	0.40431	0.717;0.317;0.717	B;B;B	0.35813	0.154;0.117;0.211	T	0.22730	-1.0208	10	0.22109	T	0.4	.	1.2513	0.01983	0.1567:0.4403:0.1519:0.2512	.	382;571;598	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	T	571;598	ENSP00000300589:P598T	ENSP00000300589:P598T	P	+	1	0	NOD2	49303115	0.000000	0.05858	0.099000	0.21106	0.063000	0.16089	-0.069000	0.11542	-0.012000	0.14223	-0.310000	0.09108	CCC		0.567	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		11	65	1	0	1.08611e-07	0.000978	1.25308e-07	11	65				
CYLD	1540	broad.mit.edu	37	16	50788335	50788335	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:50788335G>T	ENST00000427738.3	+	4	1118	c.913G>T	c.(913-915)Gct>Tct	p.A305S	CYLD_ENST00000566206.1_Splice_Site_p.E305*|CYLD_ENST00000569418.1_Splice_Site_p.E305*|CYLD_ENST00000564326.1_Splice_Site_p.E305*|CYLD_ENST00000568704.2_Splice_Site_p.E305*|CYLD_ENST00000540145.1_Splice_Site_p.A305S|CYLD_ENST00000311559.9_Splice_Site_p.A305S|CYLD_ENST00000398568.2_Splice_Site_p.E305*			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	305	Interaction with TRIP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.A305S(2)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TATCATCCCAGGTATGTTTTC	0.328			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																														uc002egp.1		NA	yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	Mis|N|F|S	familial cylindromatosis gene			E		cylindroma	cylindroma		2	Substitution - Missense(2)		lung(2)	skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28						c.(913-915)GCT>TCT		ubiquitin carboxyl-terminal hydrolase CYLD							139.0	121.0	127.0					16																	50788335		1817	4077	5894	SO:0001630	splice_region_variant	1540	Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50788335G>T	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.913+1G>T	16.37:g.50788335G>T						CYLD_uc002egn.1_Nonsense_Mutation_p.E305*|CYLD_uc002ego.2_Nonsense_Mutation_p.E305*|CYLD_uc010cbs.1_Nonsense_Mutation_p.E305*|CYLD_uc002egq.1_Nonsense_Mutation_p.E305*|CYLD_uc002egr.1_Nonsense_Mutation_p.E305*|CYLD_uc002egs.1_Nonsense_Mutation_p.E305*	p.A305S	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN			6	1328	+		all_cancers(37;0.0156)	305			Interaction with TRIP.		O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	c.913G>T	CCDS45482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.455403|5.455403	0.96223|0.96223	.|.	.|.	ENSG00000083799|ENSG00000083799	ENST00000540145;ENST00000311559|ENST00000427738;ENST00000398568	T;T|.	0.19105|.	2.17;2.17|.	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	0.333384|.	0.33005|.	N|.	0.005398|.	T|.	0.69342|.	0.3100|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.59721|.	-0.7401|.	7|.	0.08599|0.18276	T|T	0.76|0.48	1.6681|1.6681	20.4447|20.4447	0.99122|0.99122	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	S|X	305|305	ENSP00000445447:A305S;ENSP00000308928:A305S|.	ENSP00000308928:A305S|ENSP00000381574:E305X	A|E	+|+	1|1	0|0	CYLD|CYLD	49345836|49345836	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.897000|0.897000	0.52465|0.52465	9.335000|9.335000	0.96500|0.96500	2.834000|2.834000	0.97654|0.97654	0.655000|0.655000	0.94253|0.94253	GCT|GAG		0.328	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2		Missense_Mutation	31	44	1	0	3.99451e-17	0.009535	6.18403e-17	31	44				
SALL1	6299	broad.mit.edu	37	16	51173730	51173730	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:51173730G>T	ENST00000251020.4	-	2	2436	c.2403C>A	c.(2401-2403)agC>agA	p.S801R	SALL1_ENST00000440970.1_Missense_Mutation_p.S704R|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	801					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.S801R(2)		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)			ACTCAGAGTAGCTGTCGGGGA	0.512																																					GBM(103;1352 1446 1855 4775 8890)	GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(3)	8						c.(2401-2403)AGC>AGA		sal-like 1 isoform a							108.0	114.0	112.0					16																	51173730		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.chr16:51173730G>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.2403C>A	16.37:g.51173730G>T	ENSP00000251020:p.Ser801Arg					SALL1_uc010vgr.1_Missense_Mutation_p.S704R|SALL1_uc010cbv.2_Intron	p.S801R	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	2434	-		all_cancers(37;0.0322)	801					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.2403C>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	3.652	-0.071260	0.07228	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.07114	3.22;3.24	5.34	3.39	0.38822	.	0.195115	0.64402	D	0.000006	T	0.08268	0.0206	L	0.43923	1.385	0.38912	D	0.957565	B	0.28552	0.215	B	0.26517	0.07	T	0.21999	-1.0229	10	0.32370	T	0.25	.	11.5463	0.50696	0.1449:0.0:0.8551:0.0	.	801	Q9NSC2	SALL1_HUMAN	R	801;704;765	ENSP00000251020:S801R;ENSP00000407914:S704R	ENSP00000251020:S801R	S	-	3	2	SALL1	49731231	1.000000	0.71417	0.972000	0.41901	0.001000	0.01503	4.028000	0.57246	0.652000	0.30806	-0.396000	0.06452	AGC		0.512	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		118	196	1	0	8.58103e-55	0.00361	1.7609e-54	118	196				
CHD9	80205	broad.mit.edu	37	16	53342725	53342725	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:53342725A>G	ENST00000398510.3	+	33	7268	c.7181A>G	c.(7180-7182)gAg>gGg	p.E2394G	CHD9_ENST00000566029.1_Missense_Mutation_p.E2378G|CHD9_ENST00000447540.1_Missense_Mutation_p.E2379G|CHD9_ENST00000564845.1_Missense_Mutation_p.E2378G			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2394	Binds A/T-rich DNA.				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.E2395G(2)		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)				AGTGCATCAGAGACCAGCCTC	0.438																																							uc002ehb.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(7180-7182)GAG>GGG		chromodomain helicase DNA binding protein 9							68.0	70.0	69.0					16																	53342725		1940	4146	6086	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53342725A>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.7181A>G	16.37:g.53342725A>G	ENSP00000381522:p.Glu2394Gly					CHD9_uc002egy.2_Missense_Mutation_p.E2378G|CHD9_uc002ehc.2_Missense_Mutation_p.E2379G|CHD9_uc002ehf.2_Missense_Mutation_p.E1492G|CHD9_uc010cbw.2_Missense_Mutation_p.E460G|CHD9_uc002ehg.1_Missense_Mutation_p.E401G	p.E2394G	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			33	7345	+		all_cancers(37;0.0212)	2394			Binds A/T-rich DNA.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.7181A>G		.	.	.	.	.	.	.	.	.	.	A	19.93	3.917647	0.73098	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D	0.86694	-2.16	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000018	D	0.91991	0.7463	L	0.56769	1.78	0.53005	D	0.999967	D;D;P;D;D	0.76494	0.988;0.999;0.932;0.996;0.998	P;D;P;D;D	0.75484	0.76;0.986;0.655;0.932;0.969	D	0.92835	0.6283	10	0.87932	D	0	-14.2331	15.6644	0.77217	1.0:0.0:0.0:0.0	.	460;2394;2379;2394;2378	C9JR69;B7ZML1;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;.;CHD9_HUMAN;.	G	2379;2378;460	ENSP00000396345:E2379G	ENSP00000381522:E2378G	E	+	2	0	CHD9	51900226	1.000000	0.71417	0.999000	0.59377	0.811000	0.45836	8.874000	0.92363	2.107000	0.64212	0.533000	0.62120	GAG		0.438	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		9	27	0	0	0	0.006214	0	9	27				
CES5A	221223	broad.mit.edu	37	16	55880525	55880525	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:55880525G>T	ENST00000290567.9	-	13	1687	c.1566C>A	c.(1564-1566)gaC>gaA	p.D522E	CES5A_ENST00000518005.1_Missense_Mutation_p.D416E|CES5A_ENST00000319165.9_Missense_Mutation_p.D472E|CES5A_ENST00000520435.1_Missense_Mutation_p.D492E|CES5A_ENST00000521992.1_Missense_Mutation_p.D551E|CES5A_ENST00000541580.1_5'UTR	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	522						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)	p.D551E(2)|p.D472E(2)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TCATGTTCAAGTCCAGCTGGA	0.537																																							uc002eip.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(1564-1566)GAC>GAA		carboxylesterase 7 isoform 1							208.0	205.0	206.0					16																	55880525		2198	4300	6498	SO:0001583	missense	221223					extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55880525G>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.1566C>A	16.37:g.55880525G>T	ENSP00000290567:p.Asp522Glu					CES7_uc002eio.2_Missense_Mutation_p.D472E|CES7_uc002eiq.2_Missense_Mutation_p.D283E|CES7_uc002eir.2_Missense_Mutation_p.D416E	p.D522E	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN		all cancers(182;0.229)|Epithelial(162;0.231)	13	1715	-			522					B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	ENST00000290567.9	37	c.1566C>A	CCDS45490.1	.	.	.	.	.	.	.	.	.	.	.	17.79	3.476502	0.63737	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000541580	T;T;T;T;T	0.09445	2.98;2.98;2.98;2.98;2.98	5.51	-8.05	0.01106	Carboxylesterase, type B (1);	0.674833	0.13098	N	0.414035	T	0.22859	0.0552	M	0.79258	2.445	0.09310	N	1	P;D	0.65815	0.939;0.995	P;P	0.60236	0.67;0.871	T	0.05338	-1.0891	10	0.72032	D	0.01	.	12.6232	0.56616	0.2599:0.1163:0.6238:0.0	.	522;472	Q6NT32;Q6NT32-2	EST5A_HUMAN;.	E	551;472;416;522;492;302	ENSP00000428864:D551E;ENSP00000324271:D472E;ENSP00000428571:D416E;ENSP00000290567:D522E;ENSP00000428887:D492E	ENSP00000290567:D522E	D	-	3	2	CES5A	54438026	0.000000	0.05858	0.010000	0.14722	0.009000	0.06853	-0.265000	0.08644	-1.331000	0.02252	-0.768000	0.03414	GAC		0.537	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		238	454	1	0	3.0631e-104	0.00361	6.36866e-104	238	454				
BBS2	583	broad.mit.edu	37	16	56536304	56536304	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:56536304C>A	ENST00000245157.5	-	9	1425	c.1005G>T	c.(1003-1005)caG>caT	p.Q335H	BBS2_ENST00000568104.1_Missense_Mutation_p.Q335H|BBS2_ENST00000561951.1_5'UTR	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	335					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.Q335H(2)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						GGATCAGGTCCTGCTCTGCAC	0.522									Bardet-Biedl syndrome																														uc002ejd.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1003-1005)CAG>CAT		Bardet-Biedl syndrome 2 protein							151.0	137.0	141.0					16																	56536304		2198	4300	6498	SO:0001583	missense	583	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	g.chr16:56536304C>A	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.1005G>T	16.37:g.56536304C>A	ENSP00000245157:p.Gln335His					BBS2_uc010ccg.2_3'UTR	p.Q335H	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN			9	1239	-			335					Q96CM0|Q96SN9	Missense_Mutation	SNP	ENST00000245157.5	37	c.1005G>T	CCDS32451.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181960	0.78677	.	.	ENSG00000125124	ENST00000245157	D	0.91464	-2.85	5.92	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.94608	0.8262	M	0.76574	2.34	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	D	0.94781	0.7953	10	0.56958	D	0.05	-14.7827	14.9551	0.71107	0.0:0.9319:0.0:0.0681	.	335	Q9BXC9	BBS2_HUMAN	H	335	ENSP00000245157:Q335H	ENSP00000245157:Q335H	Q	-	3	2	BBS2	55093805	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	4.631000	0.61304	1.523000	0.49018	0.561000	0.74099	CAG		0.522	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885		56	224	1	0	3.19069e-20	0.00361	5.22715e-20	56	224				
SLC12A3	6559	broad.mit.edu	37	16	56901119	56901119	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:56901119G>A	ENST00000563236.1	+	2	445	c.420G>A	c.(418-420)aaG>aaA	p.K140K	SLC12A3_ENST00000262502.5_Silent_p.K139K|SLC12A3_ENST00000438926.2_Silent_p.K140K|SLC12A3_ENST00000566786.1_Silent_p.K139K			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	140					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)	p.K140K(2)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCTGGGTCAAGGGGGTGATGG	0.662																																							uc010ccm.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(1)	3						c.(418-420)AAG>AAA		solute carrier family 12, member 3 isoform 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						40.0	45.0	44.0					16																	56901119		2198	4299	6497	SO:0001819	synonymous_variant	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56901119G>A		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.420G>A	16.37:g.56901119G>A						SLC12A3_uc002ekd.3_Silent_p.K140K|SLC12A3_uc010ccn.2_Silent_p.K139K	p.K140K	NM_001126108	NP_001119580	P55017	S12A3_HUMAN			2	449	+			140			Helical; (Potential).		A8MSJ2|C9JNN9	Silent	SNP	ENST00000563236.1	37	c.420G>A	CCDS58464.1																																																																																				0.662	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			6	32	0	0	0	0.001168	0	6	32				
CDH8	1006	broad.mit.edu	37	16	61851501	61851501	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:61851501C>A	ENST00000577390.1	-	7	2113	c.1159G>T	c.(1159-1161)Gag>Tag	p.E387*	CDH8_ENST00000577730.1_Nonsense_Mutation_p.E387*|CDH8_ENST00000584337.1_Nonsense_Mutation_p.E387*|CDH8_ENST00000299345.6_Nonsense_Mutation_p.E387*	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	387	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.E387Q(2)|p.E387*(2)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ACCGGAGGCTCATCAGCATCT	0.498																																							uc002eog.1		NA																	4	Substitution - Missense(2)|Substitution - Nonsense(2)		lung(3)|large_intestine(1)	ovary(6)|skin(2)|breast(1)	9						c.(1159-1161)GAG>TAG		cadherin 8, type 2 preproprotein							112.0	93.0	99.0					16																	61851501		2203	4300	6503	SO:0001587	stop_gained	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61851501C>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1159G>T	16.37:g.61851501C>A	ENSP00000462701:p.Glu387*					CDH8_uc002eoh.2_Nonsense_Mutation_p.E156*	p.E387*	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	7	1411	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	387			Extracellular (Potential).|Cadherin 3.		B3KWC1|Q14DC6|Q9ULB2	Nonsense_Mutation	SNP	ENST00000577390.1	37	c.1159G>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	42	9.539829	0.99199	.	.	ENSG00000150394	ENST00000299345	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	387	.	ENSP00000299345:E387X	E	-	1	0	CDH8	60409002	1.000000	0.71417	0.998000	0.56505	0.875000	0.50365	7.440000	0.80464	2.941000	0.99782	0.655000	0.94253	GAG		0.498	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		47	102	1	0	1.89013e-27	0.00361	3.43977e-27	47	102				
TRADD	8717	broad.mit.edu	37	16	67190465	67190465	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:67190465C>A	ENST00000345057.4	-	2	567	c.99G>T	c.(97-99)gcG>gcT	p.A33A	TRADD_ENST00000486556.1_5'Flank|TRADD_ENST00000566104.1_5'UTR	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	33					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic process (GO:0043065)|positive regulation of hair follicle development (GO:0051798)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|nucleus (GO:0005634)|receptor complex (GO:0043235)	binding, bridging (GO:0060090)|death domain binding (GO:0070513)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|signal transducer activity (GO:0004871)	p.A33A(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GCTGGGGGTGCGCGTAGGCAT	0.632											OREG0023872	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002eri.1		NA																	2	Substitution - coding silent(2)		lung(2)	lung(1)	1						c.(97-99)GCG>GCT		TNFRSF1A-associated via death domain							120.0	97.0	105.0					16																	67190465		2198	4300	6498	SO:0001819	synonymous_variant	8717				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity	g.chr16:67190465C>A	L41690	CCDS10829.1	16q22	2008-07-28			ENSG00000102871	ENSG00000102871			12030	protein-coding gene	gene with protein product		603500				7758105	Standard	NM_003789		Approved	Hs.89862	uc002eri.1	Q15628	OTTHUMG00000137519	ENST00000345057.4:c.99G>T	16.37:g.67190465C>A			OREG0023872	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1097	TRADD_uc002erh.1_5'Flank|TRADD_uc010vjb.1_Silent_p.A33A	p.A33A	NM_003789	NP_003780	Q15628	TRADD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	2	179	-		Ovarian(137;0.0563)	33					B2RDS3|B3KQZ9|Q52NZ1	Silent	SNP	ENST00000345057.4	37	c.99G>T	CCDS10829.1																																																																																				0.632	TRADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268841.2			46	177	1	0	3.77016e-25	0.003214	6.64627e-25	46	177				
DPEP3	64180	broad.mit.edu	37	16	68010643	68010643	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:68010643C>T	ENST00000268793.4	-	8	1502	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K	DPEP3_ENST00000574342.1_5'Flank	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	352					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)	p.E377K(2)		breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CCGATGAACTCAGATCCAATG	0.562																																							uc002evc.3		NA																	2	Substitution - Missense(2)		lung(2)	breast(3)	3						c.(1129-1131)GAG>AAG		dipeptidase 3 isoform a							121.0	93.0	102.0					16																	68010643		2198	4300	6498	SO:0001583	missense	64180				meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68010643C>T	AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.1129G>A	16.37:g.68010643C>T	ENSP00000268793:p.Glu377Lys					DPEP3_uc010cex.2_Missense_Mutation_p.E376K	p.E377K	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)	8	1223	-		Ovarian(137;0.192)	352					B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	ENST00000268793.4	37	c.1129G>A	CCDS10856.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036195	0.54896	.	.	ENSG00000141096	ENST00000268793	T	0.24538	1.85	4.66	4.66	0.58398	.	0.120871	0.53938	D	0.000046	T	0.22282	0.0537	L	0.42632	1.34	0.48696	D	0.999692	B	0.32128	0.357	B	0.34242	0.178	T	0.03184	-1.1063	10	0.30854	T	0.27	-1.359	10.7029	0.45937	0.0:0.9085:0.0:0.0915	.	352	Q9H4B8	DPEP3_HUMAN	K	377	ENSP00000268793:E377K	ENSP00000268793:E377K	E	-	1	0	DPEP3	66568144	0.041000	0.20044	1.000000	0.80357	0.993000	0.82548	1.318000	0.33643	2.420000	0.82092	0.655000	0.94253	GAG		0.562	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357		7	47	0	0	0	0.00308	0	7	47				
TAT	6898	broad.mit.edu	37	16	71604708	71604708	+	Silent	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:71604708T>A	ENST00000355962.4	-	8	919	c.786A>T	c.(784-786)ccA>ccT	p.P262P	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	262					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)	p.P262P(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	GGGTGGCCAGTGGTTCATATT	0.552																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)	Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)	uc002fap.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(784-786)CCA>CCT		tyrosine aminotransferase	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)						123.0	102.0	109.0					16																	71604708		2198	4300	6498	SO:0001819	synonymous_variant	6898				2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:71604708T>A		CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.786A>T	16.37:g.71604708T>A							p.P262P	NM_000353	NP_000344	P17735	ATTY_HUMAN		Kidney(780;0.0157)	8	885	-		Ovarian(137;0.125)	262					B2R8I1|D3DWS2	Silent	SNP	ENST00000355962.4	37	c.786A>T	CCDS10903.1																																																																																				0.552	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1			11	62	0	0	0	0.001855	0	11	62				
CTRB2	440387	broad.mit.edu	37	16	75238132	75238132	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:75238132G>T	ENST00000303037.8	-	7	762	c.719C>A	c.(718-720)aCc>aAc	p.T240N		NM_001025200.3	NP_001020371.3	Q6GPI1	CTRB2_HUMAN	chymotrypsinogen B2	240	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.T240N(2)		endometrium(1)|large_intestine(1)|lung(2)	4						GGGCGTGGTGGTAGAGCAGGT	0.667																																							uc002fdr.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(718-720)ACC>AAC		chymotrypsin B2 precursor							91.0	81.0	84.0					16																	75238132		2198	4300	6498	SO:0001583	missense	440387				digestion|proteolysis	extracellular space	serine-type endopeptidase activity	g.chr16:75238132G>T	M24400, AK131056	CCDS32489.1	16q22.3	2007-10-22			ENSG00000168928	ENSG00000168928			2522	protein-coding gene	gene with protein product						2917002, 8186414	Standard	NM_001025200		Approved		uc002fdr.3	Q6GPI1	OTTHUMG00000159271	ENST00000303037.8:c.719C>A	16.37:g.75238132G>T	ENSP00000303963:p.Thr240Asn						p.T240N	NM_001025200	NP_001020371	Q6GPI1	CTRB2_HUMAN			7	752	-			240			Peptidase S1.		A8K707	Missense_Mutation	SNP	ENST00000303037.8	37	c.719C>A	CCDS32489.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553875	0.65425	.	.	ENSG00000168928	ENST00000303037	D	0.88431	-2.38	4.33	4.33	0.51752	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.157398	0.40222	U	0.001146	D	0.87426	0.6174	N	0.16602	0.42	0.53005	D	0.999966	D	0.53745	0.962	P	0.60473	0.875	D	0.88177	0.2868	10	0.56958	D	0.05	.	11.5074	0.50474	0.0904:0.0:0.9096:0.0	.	240	Q6GPI1	CTRB2_HUMAN	N	240	ENSP00000303963:T240N	ENSP00000303963:T240N	T	-	2	0	CTRB2	73795633	0.280000	0.24249	0.882000	0.34594	0.687000	0.40016	2.784000	0.47774	2.141000	0.66446	0.436000	0.28706	ACC		0.667	CTRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354298.2	NM_001025200		29	100	1	0	1.16021e-09	0.007291	1.42851e-09	29	100				
SDR42E1	93517	broad.mit.edu	37	16	82033148	82033148	+	Missense_Mutation	SNP	C	C	A	rs572262577		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:82033148C>A	ENST00000328945.5	-	3	877	c.750G>T	c.(748-750)caG>caT	p.Q250H	SDR42E1_ENST00000534209.1_5'Flank	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	250					steroid biosynthetic process (GO:0006694)	integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)	p.Q250H(2)		NS(2)|endometrium(1)|lung(4)|skin(3)	10						TGAAGTAGGGCTGCCCAGAGG	0.567																																							uc002fgu.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(748-750)CAG>CAT		short chain dehydrogenase/reductase family 42E,							90.0	91.0	91.0					16																	82033148		1918	4125	6043	SO:0001583	missense	93517				steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding	g.chr16:82033148C>A	AF161368	CCDS42205.1	16q23.3	2011-09-14				ENSG00000184860	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	29834	protein-coding gene	gene with protein product						19027726	Standard	NM_145168		Approved	HSPC105	uc002fgu.3	Q8WUS8		ENST00000328945.5:c.750G>T	16.37:g.82033148C>A	ENSP00000332407:p.Gln250His						p.Q250H	NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN			3	878	-			250					B2RDS1|Q9P0D1	Missense_Mutation	SNP	ENST00000328945.5	37	c.750G>T	CCDS42205.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334085	0.60853	.	.	ENSG00000184860	ENST00000328945	D	0.86230	-2.09	5.03	3.08	0.35506	3-beta hydroxysteroid dehydrogenase/isomerase (1);	0.161647	0.56097	D	0.000026	D	0.91399	0.7286	M	0.89534	3.04	0.58432	D	0.999991	P	0.35307	0.494	P	0.46389	0.515	D	0.90673	0.4599	10	0.87932	D	0	-7.7633	10.0985	0.42491	0.0:0.7726:0.0:0.2274	.	250	Q8WUS8	D42E1_HUMAN	H	250	ENSP00000332407:Q250H	ENSP00000332407:Q250H	Q	-	3	2	SDR42E1	80590649	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	2.130000	0.42064	0.641000	0.30601	-0.136000	0.14681	CAG		0.567	SDR42E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388081.2	NM_145168		64	270	1	0	2.6711e-34	0.00361	5.13373e-34	64	270				
OR1D5	8386	broad.mit.edu	37	17	2966144	2966145	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:2966144_2966145CC>AA	ENST00000575751.1	-	1	756_757	c.757_758GG>TT	c.(757-759)GGg>TTg	p.G253L		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	253					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|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.G253L(4)		kidney(1)|lung(10)	11						AGCAAGCGTCCCATAAAAGAGG	0.495																																							uc010vra.1		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(811-813)GGG>TTG		olfactory receptor, family 1, subfamily D,																																				SO:0001583	missense	8385							g.chr17:2966144_2966145CC>AA	AF087923	CCDS58499.1	17p13.3	2012-10-09			ENSG00000262628	ENSG00000262628		"""GPCR / Class A : Olfactory receptors"""	8186	protein-coding gene	gene with protein product						10673334	Standard	NM_014566		Approved	OR17-31	uc021tns.1	P58170	OTTHUMG00000177676	ENST00000575751.1:c.757_758delinsAA	17.37:g.2966144_2966145delinsAA	ENSP00000459028:p.Gly253Leu						p.G271L	NM_003552	NP_003543					1	811_812	-								Q96RA6	Missense_Mutation	DNP	ENST00000575751.1	37	c.811_812GG>TT	CCDS58499.1																																																																																				0.495	OR1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438410.2	NM_014566		24	88	0	0	0	0.004672	0	24	88				
MYH2	4620	broad.mit.edu	37	17	10432233	10432233	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:10432233C>A	ENST00000245503.5	-	27	3902	c.3518G>T	c.(3517-3519)cGg>cTg	p.R1173L	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.R1173L	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1173					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.R1173L(2)		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						CTCAGCCTCCCGCTTCTTGTT	0.597																																							uc010coi.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(3517-3519)CGG>CTG		myosin heavy chain IIa							71.0	79.0	76.0					17																	10432233		2203	4297	6500	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10432233C>A		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.3518G>T	17.37:g.10432233C>A	ENSP00000245503:p.Arg1173Leu					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R1173L|MYH2_uc010coj.2_Intron	p.R1173L	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			27	3646	-			1173			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.3518G>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803091	0.90623	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.85339	-1.97;-1.97	5.18	5.18	0.71444	Myosin tail (1);	0.000000	0.36519	U	0.002548	D	0.94794	0.8319	H	0.94222	3.51	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.95836	0.8862	10	0.87932	D	0	.	18.8905	0.92399	0.0:1.0:0.0:0.0	.	1173	Q9UKX2	MYH2_HUMAN	L	1173	ENSP00000245503:R1173L;ENSP00000380367:R1173L	ENSP00000245503:R1173L	R	-	2	0	MYH2	10372958	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.350000	0.79385	2.707000	0.92482	0.655000	0.94253	CGG		0.597	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		69	127	1	0	5.46685e-50	0.00361	1.11603e-49	69	127				
MAP2K4	6416	broad.mit.edu	37	17	12044543	12044543	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:12044543C>T	ENST00000353533.5	+	11	1229	c.1166C>T	c.(1165-1167)cCa>cTa	p.P389L	MAP2K4_ENST00000415385.3_Missense_Mutation_p.P400L	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	389					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(2)|p.P389L(2)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		GATCAAATGCCAGCTACTCCC	0.408			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																		uc002gnj.2		NA		Rec	yes		17	17p11.2	6416	D|Mis|N	mitogen-activated protein kinase kinase 4			E			pancreatic|breast|colorectal		14	Whole gene deletion(10)|Substitution - Missense(2)|Unknown(2)	p.?(2)	ovary(4)|breast(4)|lung(3)|pancreas(2)|biliary_tract(1)	large_intestine(14)|breast(12)|lung(8)|ovary(8)|pancreas(8)|stomach(2)|central_nervous_system(1)|biliary_tract(1)|testis(1)|endometrium(1)|urinary_tract(1)|skin(1)	58						c.(1165-1167)CCA>CTA		mitogen-activated protein kinase kinase 4							145.0	125.0	132.0					17																	12044543		2203	4299	6502	SO:0001583	missense	6416				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:12044543C>T	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.1166C>T	17.37:g.12044543C>T	ENSP00000262445:p.Pro389Leu					MAP2K4_uc002gnk.2_Missense_Mutation_p.P400L|MAP2K4_uc010vvi.1_Missense_Mutation_p.P271L|MAP2K4_uc010vvj.1_Missense_Mutation_p.P261L	p.P389L	NM_003010	NP_003001	P45985	MP2K4_HUMAN		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)	11	1235	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	389					B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	ENST00000353533.5	37	c.1166C>T	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.897347	0.72639	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.72282	-0.56;-0.64	5.53	5.53	0.82687	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.69797	0.3151	M	0.72118	2.19	0.80722	D	1	B;P;B	0.36125	0.316;0.538;0.403	B;B;B	0.29862	0.031;0.108;0.05	T	0.73404	-0.3993	10	0.59425	D	0.04	.	18.3995	0.90511	0.0:1.0:0.0:0.0	.	261;400;389	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	L	389;400;366;261	ENSP00000262445:P389L;ENSP00000410402:P400L	ENSP00000262445:P389L	P	+	2	0	MAP2K4	11985268	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.647000	0.83462	2.879000	0.98667	0.650000	0.86243	CCA		0.408	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1			24	58	0	0	0	0.00333	0	24	58				
HS3ST3B1	9953	broad.mit.edu	37	17	14248435	14248435	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:14248435G>T	ENST00000360954.2	+	2	1081	c.645G>T	c.(643-645)tcG>tcT	p.S215S		NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1	215					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)	p.S215S(2)		large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		CGCGCATCTCGGCCATGTCCA	0.642																																							uc002goh.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(643-645)TCG>TCT		heparan sulfate D-glucosaminyl							60.0	35.0	44.0					17																	14248435		2202	4285	6487	SO:0001819	synonymous_variant	9953				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	g.chr17:14248435G>T	AF105377	CCDS11167.1	17p12	2007-04-02			ENSG00000125430	ENSG00000125430	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5198	protein-coding gene	gene with protein product		604058				9988767	Standard	NM_006041		Approved	3OST3B1, 30ST3B1	uc002goh.1	Q9Y662	OTTHUMG00000058810	ENST00000360954.2:c.645G>T	17.37:g.14248435G>T							p.S215S	NM_006041	NP_006032	Q9Y662	HS3SB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)	2	975	+			215			Lumenal (Potential).		B3KN58|D3DTS6	Silent	SNP	ENST00000360954.2	37	c.645G>T	CCDS11167.1																																																																																				0.642	HS3ST3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129998.1	NM_006041		22	36	1	0	4.26978e-12	0.00333	5.81103e-12	22	36				
MFAP4	4239	broad.mit.edu	37	17	19288711	19288711	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:19288711G>T	ENST00000299610.4	-	4	381	c.297C>A	c.(295-297)taC>taA	p.Y99*	MFAP4_ENST00000395592.2_Nonsense_Mutation_p.Y123*|MFAP4_ENST00000574313.2_5'Flank|MFAP4_ENST00000497081.2_Nonsense_Mutation_p.Y124*	NM_002404.2	NP_002395.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	99	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cellular response to UV-B (GO:0071493)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|regulation of collagen metabolic process (GO:0010712)|UV protection (GO:0009650)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)		p.Y123*(2)|p.Y99*(2)		large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AGCCCAGCTTGTAGTCATTCC	0.572																																							uc002gvt.2		NA																	4	Substitution - Nonsense(4)		lung(4)		0						c.(295-297)TAC>TAA		microfibrillar-associated protein 4 precursor							64.0	63.0	63.0					17																	19288711		2203	4300	6503	SO:0001587	stop_gained	4239				cell adhesion|signal transduction	microfibril	receptor binding	g.chr17:19288711G>T	L38486	CCDS11208.1, CCDS56023.1	17p11.2	2013-02-06			ENSG00000166482	ENSG00000166482		"""Fibrinogen C domain containing"""	7035	protein-coding gene	gene with protein product	"""microfibril-associated glycoprotein 4"""	600596				7633408	Standard	NM_001198695		Approved		uc002gvs.3	P55083	OTTHUMG00000059585	ENST00000299610.4:c.297C>A	17.37:g.19288711G>T	ENSP00000299610:p.Tyr99*					MFAP4_uc002gvr.2_Intron|MFAP4_uc002gvs.2_Nonsense_Mutation_p.Y123*	p.Y99*	NM_002404	NP_002395	P55083	MFAP4_HUMAN			4	322	-	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		99			Fibrinogen C-terminal.		A8KAJ1|A8MVM2|B4E317|Q6P680	Nonsense_Mutation	SNP	ENST00000299610.4	37	c.297C>A	CCDS11208.1	.	.	.	.	.	.	.	.	.	.	g	36	5.599841	0.96614	.	.	ENSG00000166482	ENST00000395592;ENST00000299610	.	.	.	5.26	5.26	0.73747	.	0.000000	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4764	0.84133	0.0:0.0:1.0:0.0	.	.	.	.	X	123;99	.	ENSP00000299610:Y99X	Y	-	3	2	MFAP4	19229304	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.605000	0.24179	2.760000	0.94817	0.550000	0.68814	TAC		0.572	MFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132493.2	NM_002404		19	38	1	0	1.96292e-10	0.010504	2.48679e-10	19	38				
SLC47A1	55244	broad.mit.edu	37	17	19445753	19445753	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:19445753G>T	ENST00000270570.4	+	2	269	c.183G>T	c.(181-183)gtG>gtT	p.V61V	SLC47A1_ENST00000457293.1_Silent_p.V61V|SLC47A1_ENST00000571335.1_5'UTR|SLC47A1_ENST00000436810.2_Silent_p.V61V|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000395585.1_Silent_p.V61V|SLC47A1_ENST00000542886.1_Silent_p.V61V|SLC47A1_ENST00000575023.1_Silent_p.V61V	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	61					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)	p.V61V(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	TAAGCTCCGTGTTCTGTGGCC	0.557																																							uc002gvy.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(181-183)GTG>GTT		solute carrier family 47, member 1							187.0	140.0	156.0					17																	19445753		2203	4300	6503	SO:0001819	synonymous_variant	55244					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19445753G>T		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.183G>T	17.37:g.19445753G>T						SLC47A1_uc010vyy.1_RNA|SLC47A1_uc002gvx.2_Silent_p.V61V|SLC47A1_uc010vyz.1_Silent_p.V61V|SLC47A1_uc010cqp.1_Silent_p.V61V	p.V61V	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN			2	269	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)		61			Extracellular (Potential).		Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Silent	SNP	ENST00000270570.4	37	c.183G>T	CCDS11209.1																																																																																				0.557	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242		30	79	1	0	9.65021e-13	0.002096	1.36035e-12	30	79				
FAM222B	55731	broad.mit.edu	37	17	27093631	27093631	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:27093631T>A	ENST00000341217.5	-	2	270	c.55A>T	c.(55-57)Acg>Tcg	p.T19S	FAM222B_ENST00000577682.1_Missense_Mutation_p.T19S|FAM222B_ENST00000582059.1_Missense_Mutation_p.T19S|FAM222B_ENST00000583522.1_Missense_Mutation_p.T19S|FAM222B_ENST00000452648.3_Missense_Mutation_p.T19S|FAM222B_ENST00000581381.1_Missense_Mutation_p.T19S|FAM222B_ENST00000581407.1_Missense_Mutation_p.T19S|FAM222B_ENST00000583953.1_Missense_Mutation_p.T19S|FAM222B_ENST00000582266.1_Missense_Mutation_p.T19S	NM_018182.2	NP_060652.2	Q8WU58	F222B_HUMAN	family with sequence similarity 222, member B	19								p.T19S(4)|p.T19A(1)									TTCATCTGCGTGTGAGAAAGA	0.478																																							uc002hct.1		NA																	5	Substitution - Missense(5)		lung(4)|prostate(1)	ovary(1)	1						c.(55-57)ACG>TCG		hypothetical protein LOC55731							67.0	67.0	67.0					17																	27093631		2024	4187	6211	SO:0001583	missense	55731							g.chr17:27093631T>A	AK001562	CCDS45637.1, CCDS74022.1	17q11.2	2012-04-27	2012-04-27	2012-04-27	ENSG00000173065	ENSG00000173065			25563	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 63"""	C17orf63			Standard	NM_001288631		Approved	FLJ10700	uc010way.1	Q8WU58		ENST00000341217.5:c.55A>T	17.37:g.27093631T>A	ENSP00000343115:p.Thr19Ser					C17orf63_uc010wax.1_Missense_Mutation_p.T19S|C17orf63_uc010way.1_Missense_Mutation_p.T19S|C17orf63_uc002hcw.2_5'UTR	p.T19S	NM_018182	NP_060652	Q8WU58	CQ063_HUMAN	Epithelial(11;3.38e-06)|all cancers(11;2.46e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.104)		2	322	-	all_epithelial(6;5.06e-20)|Lung NSC(42;0.01)		19					Q9H6F3|Q9NVJ4|Q9NXN6	Missense_Mutation	SNP	ENST00000341217.5	37	c.55A>T	CCDS45637.1	.	.	.	.	.	.	.	.	.	.	T	14.00	2.405905	0.42715	.	.	ENSG00000173065	ENST00000341217;ENST00000452648	T;T	0.32272	1.46;1.46	5.65	4.56	0.56223	.	0.121890	0.56097	D	0.000035	T	0.16769	0.0403	N	0.17474	0.49	0.41124	D	0.985835	B	0.27229	0.172	B	0.24155	0.051	T	0.08994	-1.0695	10	0.25751	T	0.34	-3.4516	7.7427	0.28851	0.1387:0.0:0.1452:0.7161	.	19	Q8WU58	CQ063_HUMAN	S	19	ENSP00000343115:T19S;ENSP00000413645:T19S	ENSP00000343115:T19S	T	-	1	0	C17orf63	24117757	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.841000	0.55850	1.055000	0.40461	0.459000	0.35465	ACG		0.478	FAM222B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446703.1	NM_018182		8	17	0	0	0	0.004482	0	8	17				
PSMD11	5717	broad.mit.edu	37	17	30800864	30800864	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:30800864C>T	ENST00000261712.3	+	7	952	c.689C>T	c.(688-690)tCa>tTa	p.S230L	PSMD11_ENST00000457654.2_Missense_Mutation_p.S230L	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	230	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)		p.S230L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			ACTGCGTACTCATACTTCTAT	0.413																																					Ovarian(130;1038 1716 9294 11987 19279)	Ovarian(130;1038 1716 9294 11987 19279)	uc010cta.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(688-690)TCA>TTA		proteasome 26S non-ATPase subunit 11							186.0	151.0	163.0					17																	30800864		2203	4300	6503	SO:0001583	missense	5717				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	g.chr17:30800864C>T	AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"""Proteasome (prosome, macropain) subunits"""	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.689C>T	17.37:g.30800864C>T	ENSP00000261712:p.Ser230Leu					PSMD11_uc010wbz.1_Missense_Mutation_p.S230L|PSMD11_uc002hhm.2_Missense_Mutation_p.S230L	p.S230L	NM_002815	NP_002806	O00231	PSD11_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		7	729	+		Breast(31;0.159)|Ovarian(249;0.182)	230			PCI.		A8K3I7|E1P663|O00495|Q53FT5	Missense_Mutation	SNP	ENST00000261712.3	37	c.689C>T	CCDS11272.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209922	0.58343	.	.	ENSG00000108671	ENST00000261712	T	0.48522	0.81	5.27	5.27	0.74061	PCI/PINT associated module (1);	0.000000	0.85682	D	0.000000	T	0.78214	0.4248	H	0.95114	3.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.84588	0.0665	10	0.87932	D	0	-5.8107	16.4142	0.83728	0.0:1.0:0.0:0.0	.	230;230	B4DTS5;O00231	.;PSD11_HUMAN	L	230	ENSP00000261712:S230L	ENSP00000261712:S230L	S	+	2	0	PSMD11	27824977	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.647000	0.83462	2.735000	0.93741	0.655000	0.94253	TCA		0.413	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256252.2	NM_002815		40	134	0	0	0	0.007835	0	40	134				
TMEM132E	124842	broad.mit.edu	37	17	32962070	32962070	+	Silent	SNP	G	G	T	rs146893987	byFrequency	TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:32962070G>T	ENST00000321639.5	+	8	1999	c.1671G>T	c.(1669-1671)acG>acT	p.T557T		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	557						integral component of membrane (GO:0016021)		p.T557T(3)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		ACAGCAGCACGCTGGCAGGAC	0.617																																							uc002hif.2		NA																	3	Substitution - coding silent(3)		lung(2)|upper_aerodigestive_tract(1)	central_nervous_system(1)	1						c.(1669-1671)ACG>ACT		transmembrane protein 132E precursor							47.0	40.0	43.0					17																	32962070		2203	4300	6503	SO:0001819	synonymous_variant	124842					integral to membrane		g.chr17:32962070G>T	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1671G>T	17.37:g.32962070G>T							p.T557T	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	8	1999	+			557			Extracellular (Potential).		Q8WUF4|Q8WVA5	Silent	SNP	ENST00000321639.5	37	c.1671G>T	CCDS11283.1																																																																																				0.617	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		18	47	1	0	1.02788e-11	0.00499	1.38221e-11	18	47				
SLFN13	146857	broad.mit.edu	37	17	33768287	33768287	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:33768287C>G	ENST00000285013.6	-	6	2296	c.2021G>C	c.(2020-2022)cGt>cCt	p.R674P	SLFN13_ENST00000533791.1_Missense_Mutation_p.R674P|SLFN13_ENST00000534689.1_Missense_Mutation_p.R356P|SLFN13_ENST00000542635.1_Missense_Mutation_p.R674P|SLFN13_ENST00000360502.2_Missense_Mutation_p.R356P|SLFN13_ENST00000526861.1_Missense_Mutation_p.R674P	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	674						intracellular (GO:0005622)	ATP binding (GO:0005524)	p.R674P(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ATCTTCAGTACGGAAATTCTG	0.433																																							uc002hjk.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(2020-2022)CGT>CCT		schlafen family member 13							119.0	127.0	124.0					17																	33768287		2203	4300	6503	SO:0001583	missense	146857					intracellular	ATP binding	g.chr17:33768287C>G	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.2021G>C	17.37:g.33768287C>G	ENSP00000285013:p.Arg674Pro					SLFN13_uc010wch.1_Missense_Mutation_p.R674P|SLFN13_uc002hjl.2_Missense_Mutation_p.R674P|SLFN13_uc010ctt.2_Missense_Mutation_p.R356P|SLFN13_uc002hjm.2_Missense_Mutation_p.R343P	p.R674P	NM_144682	NP_653283	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	4	2351	-			674					E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	ENST00000285013.6	37	c.2021G>C	CCDS32620.1	.	.	.	.	.	.	.	.	.	.	c	7.575	0.667604	0.14710	.	.	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689	D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1	3.29	0.0439	0.14224	Domain of unknown function DUF2075 (1);	0.591931	0.15290	N	0.270229	D	0.90789	0.7108	M	0.81239	2.535	0.22996	N	0.998451	D;D	0.89917	1.0;0.999	D;D	0.85130	0.988;0.997	T	0.80039	-0.1549	10	0.46703	T	0.11	.	3.6622	0.08242	0.0:0.5444:0.2072:0.2484	.	356;674	Q68D06-2;Q68D06	.;SLN13_HUMAN	P	674;356;674;674;356	ENSP00000285013:R674P;ENSP00000353692:R356P;ENSP00000434439:R674P;ENSP00000444016:R674P;ENSP00000435442:R356P	ENSP00000285013:R674P	R	-	2	0	SLFN13	30792400	0.030000	0.19436	0.776000	0.31678	0.020000	0.10135	0.183000	0.16919	-0.049000	0.13379	-1.043000	0.02367	CGT		0.433	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		55	169	0	0	0	0.00361	0	55	169				
LYZL6	57151	broad.mit.edu	37	17	34263771	34263771	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:34263771C>A	ENST00000585556.1	-	4	699	c.365G>T	c.(364-366)gGg>gTg	p.G122V	LYZL6_ENST00000293274.4_Missense_Mutation_p.G122V|LYZL6_ENST00000492340.2_5'UTR|LYZL6_ENST00000394523.3_Missense_Mutation_p.G122V			O75951	LYZL6_HUMAN	lysozyme-like 6	122					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)	p.G122V(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTTGTTCATCCCCCGTGCTCC	0.577																																							uc002hkj.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(364-366)GGG>GTG		lysozyme-like 6 precursor							115.0	104.0	107.0					17																	34263771		2203	4300	6503	SO:0001583	missense	57151				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr17:34263771C>A	AF088219, AY742214	CCDS11302.1	17q11.2	2014-04-10			ENSG00000161572	ENSG00000275722			29614	protein-coding gene	gene with protein product		612751				10213461	Standard	NM_020426		Approved	LYC1, PRO1485, TKAL754	uc002hkj.2	O75951	OTTHUMG00000188400	ENST00000585556.1:c.365G>T	17.37:g.34263771C>A	ENSP00000468094:p.Gly122Val					LYZL6_uc002hkk.1_Missense_Mutation_p.G122V	p.G122V	NM_020426	NP_065159	O75951	LYZL6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	515	-			122					Q6UW30	Missense_Mutation	SNP	ENST00000585556.1	37	c.365G>T	CCDS11302.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.988251	0.35036	.	.	ENSG00000161572	ENST00000293274;ENST00000394523	T;T	0.75704	-0.96;-0.96	4.89	4.89	0.63831	Lysozyme-like domain (1);	0.000000	0.64402	D	0.000001	D	0.90038	0.6889	H	0.96111	3.77	0.34003	D	0.650598	D	0.89917	1.0	D	0.91635	0.999	D	0.95081	0.8213	10	0.87932	D	0	-6.5656	13.949	0.64104	0.0:1.0:0.0:0.0	.	122	O75951	LYZL6_HUMAN	V	122	ENSP00000293274:G122V;ENSP00000378031:G122V	ENSP00000293274:G122V	G	-	2	0	LYZL6	31287884	0.111000	0.22076	0.039000	0.18376	0.094000	0.18550	2.901000	0.48695	2.427000	0.82271	0.561000	0.74099	GGG		0.577	LYZL6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256578.2	NM_020426		39	163	1	0	3.78316e-11	0.00623	4.95204e-11	39	163				
FBXO47	494188	broad.mit.edu	37	17	37119170	37119170	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:37119170G>A	ENST00000378079.2	-	2	308	c.109C>T	c.(109-111)Ccc>Tcc	p.P37S		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	37								p.P37S(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						GTTGATATGGGTTGAAAGCCT	0.353																																							uc002hrc.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(109-111)CCC>TCC		F-box protein 47							117.0	120.0	119.0					17																	37119170		2203	4300	6503	SO:0001583	missense	494188							g.chr17:37119170G>A		CCDS32639.1	17q12	2014-08-12			ENSG00000204952	ENSG00000204952		"""F-boxes /  ""other"""""	31969	protein-coding gene	gene with protein product		609498				15723337	Standard	NM_001008777		Approved		uc002hrc.2	Q5MNV8	OTTHUMG00000178945	ENST00000378079.2:c.109C>T	17.37:g.37119170G>A	ENSP00000367319:p.Pro37Ser						p.P37S	NM_001008777	NP_001008777	Q5MNV8	FBX47_HUMAN			2	309	-			37					B2RTZ4	Missense_Mutation	SNP	ENST00000378079.2	37	c.109C>T	CCDS32639.1	.	.	.	.	.	.	.	.	.	.	G	2.278	-0.365351	0.05103	.	.	ENSG00000204952	ENST00000378079	T	0.55588	0.51	4.77	1.34	0.21922	.	0.875918	0.09910	N	0.739978	T	0.25568	0.0622	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24657	-1.0154	10	0.09590	T	0.72	0.0351	2.1287	0.03745	0.1037:0.1586:0.3717:0.3661	.	37	Q5MNV8	FBX47_HUMAN	S	37	ENSP00000367319:P37S	ENSP00000367319:P37S	P	-	1	0	FBXO47	34372696	0.549000	0.26481	0.795000	0.32087	0.908000	0.53690	0.885000	0.28227	0.967000	0.38186	0.313000	0.20887	CCC		0.353	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444073.1	NM_001008777		26	92	0	0	0	0.004656	0	26	92				
KIF18B	146909	broad.mit.edu	37	17	43004447	43004447	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:43004447C>A	ENST00000593135.1	-	14	2374		c.e14-1		KIF18B_ENST00000339151.4_Splice_Site|KIF18B_ENST00000438933.2_Splice_Site|KIF18B_ENST00000587309.1_Splice_Site|KIF18B_ENST00000590129.1_Splice_Site	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B						ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.?(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CACAGGTGCCCTGGGGAGGGA	0.647																																							uc010wji.1		NA																	2	Unknown(2)		lung(2)	ovary(2)	2						c.e14-1		kinesin family member 18B							25.0	28.0	27.0					17																	43004447		2010	4165	6175	SO:0001630	splice_region_variant	146909							g.chr17:43004447C>A		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.2277-1G>T	17.37:g.43004447C>A						KIF18B_uc002iht.2_Splice_Site_p.R771_splice|KIF18B_uc010wjh.1_Splice_Site_p.R759_splice	p.R762_splice	NM_001080443	NP_001073912					14	2387	-		Prostate(33;0.155)						A6NJI2|B7ZM49|B9EGM8|D5L6I1	Splice_Site	SNP	ENST00000593135.1	37	c.2286_splice	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256217	0.39896	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5352	0.61643	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF18B	40359973	0.902000	0.30710	0.295000	0.24960	0.015000	0.08874	4.398000	0.59697	2.573000	0.86826	0.655000	0.94253	.		0.647	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443	Intron	11	31	1	0	5.16669e-11	0.000978	6.7295e-11	11	31				
MAP3K14	9020	broad.mit.edu	37	17	43364128	43364128	+	RNA	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:43364128G>A	ENST00000344686.2	-	0	927							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus (GO:0071260)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|T cell costimulation (GO:0031295)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|NF-kappaB-inducing kinase activity (GO:0004704)|protein kinase activity (GO:0004672)	p.P274P(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAGGTTTCCAGGGCTGGAGAG	0.622																																							uc002iiw.1		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1)	8						c.(820-822)CCC>CCT		mitogen-activated protein kinase kinase kinase							20.0	21.0	21.0					17																	43364128		1961	4143	6104			9020				cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr17:43364128G>A	Y10256	CCDS74079.1	17q21.31	2014-06-16			ENSG00000006062	ENSG00000006062	2.7.11.25	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6853	protein-coding gene	gene with protein product	"""serine/threonine protein-kinase"""	604655				9020361	Standard	NM_003954		Approved	NIK, HSNIK, FTDCR1B, HS	uc002iiw.1	Q99558	OTTHUMG00000180364		17.37:g.43364128G>A						MAP3K14_uc010daj.1_RNA|MAP3K14_uc002iiv.1_5'UTR	p.P274P	NM_003954	NP_003945	Q99558	M3K14_HUMAN			6	931	-			274					A8K2D8|D3DX67|Q8IYN1	Silent	SNP	ENST00000344686.2	37	c.822C>T																																																																																					0.622	MAP3K14-201	KNOWN	basic	processed_transcript	processed_transcript		NM_003954		9	21	0	0	0	0.000978	0	9	21				
PLEKHM1	9842	broad.mit.edu	37	17	43531202	43531202	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:43531202A>T	ENST00000430334.3	-	7	2149	c.2016T>A	c.(2014-2016)ttT>ttA	p.F672L	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.F583L|AC091132.1_ENST00000433601.1_RNA	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	672					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)	p.F672L(2)		breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					ACGACCAGTCAAACTGTGTGC	0.612																																							uc002ija.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2014-2016)TTT>TTA		pleckstrin homology domain containing, family M							48.0	54.0	52.0					17																	43531202		2203	4300	6503	SO:0001583	missense	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43531202A>T	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.2016T>A	17.37:g.43531202A>T	ENSP00000389913:p.Phe672Leu					PLEKHM1_uc010wjm.1_Missense_Mutation_p.F644L|PLEKHM1_uc002ijb.2_Missense_Mutation_p.F147L|PLEKHM1_uc010wjn.1_Missense_Mutation_p.F621L|PLEKHM1_uc002ijc.2_Missense_Mutation_p.F126L	p.F672L	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN			7	2186	-	Renal(3;0.0405)		672					Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	ENST00000430334.3	37	c.2016T>A	CCDS32671.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.706552	0.00719	.	.	ENSG00000225190	ENST00000430334;ENST00000446609;ENST00000421073	T;T	0.61742	0.08;0.08	4.91	-9.82	0.00484	.	0.556527	0.19472	N	0.113437	T	0.29914	0.0748	N	0.19112	0.55	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.09377	0.004;0.001;0.001	T	0.11567	-1.0582	10	0.17832	T	0.49	.	9.7682	0.40574	0.1538:0.5863:0.1857:0.0743	.	583;621;672	F8W648;B4DRX1;Q9Y4G2	.;.;PKHM1_HUMAN	L	672;621;583	ENSP00000389913:F672L;ENSP00000414352:F583L	ENSP00000414352:F583L	F	-	3	2	PLEKHM1	40886985	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.341000	0.02647	-4.520000	0.00044	-0.449000	0.05564	TTT		0.612	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		40	131	0	0	0	0.00874	0	40	131				
SPPL2C	162540	broad.mit.edu	37	17	43922293	43922293	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:43922293C>T	ENST00000329196.5	+	1	38	c.21C>T	c.(19-21)ctC>ctT	p.L7L	MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	7						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)	p.L7L(2)									TGGGCTTCCTCCTCCCCGTGG	0.627																																						NSCLC(24;34 1393 18470)	uc010wka.1		NA																	2	Substitution - coding silent(2)		lung(2)	pancreas(2)	2						c.(19-21)CTC>CTT		intramembrane protease 5 precursor							91.0	83.0	86.0					17																	43922293		2203	4300	6503	SO:0001819	synonymous_variant	162540					integral to membrane	aspartic-type endopeptidase activity	g.chr17:43922293C>T		CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"""intramembrane protease 5"""	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.21C>T	17.37:g.43922293C>T						LOC100128977_uc010wjz.1_Intron	p.L7L	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	1	21	+	Colorectal(2;0.0416)		7					Q8TC67|Q8WVZ6	Silent	SNP	ENST00000329196.5	37	c.21C>T	CCDS32673.1																																																																																				0.627	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1	NM_175882		19	74	0	0	0	0.007413	0	19	74				
MAPT	4137	broad.mit.edu	37	17	44067349	44067349	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:44067349G>T	ENST00000571987.1	+	7	1288	c.1288G>T	c.(1288-1290)Gct>Tct	p.A430S	MAPT_ENST00000351559.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000344290.5_Missense_Mutation_p.A430S|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.A430S|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.A430S|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000535772.1_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	430					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)	p.A430S(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	CTCCAGCCCTGCTGTGTGCCC	0.522																																							uc002ijr.3		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(1288-1290)GCT>TCT		microtubule-associated protein tau isoform 1							206.0	210.0	209.0					17																	44067349		2203	4300	6503	SO:0001583	missense	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44067349G>T	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.1288G>T	17.37:g.44067349G>T	ENSP00000458742:p.Ala430Ser					MAPT_uc010dau.2_Missense_Mutation_p.A430S|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	p.A430S	NM_016835	NP_058519	P10636	TAU_HUMAN			8	1608	+		Melanoma(429;0.216)	430					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	ENST00000571987.1	37	c.1288G>T	CCDS11501.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756574	0.69648	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000415613	T;T;T	0.34275	1.37;1.37;1.37	4.96	4.96	0.65561	.	0.000000	0.41605	D	0.000850	T	0.53850	0.1822	M	0.65498	2.005	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.985	T	0.45205	-0.9277	10	0.15499	T	0.54	-20.5845	13.5697	0.61838	0.0:0.0:1.0:0.0	.	430;430	P10636-9;P10636	.;TAU_HUMAN	S	430	ENSP00000340820:A430S;ENSP00000262410:A430S;ENSP00000410838:A430S	ENSP00000262410:A430S	A	+	1	0	MAPT	41423186	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.474000	0.45154	2.578000	0.87016	0.491000	0.48974	GCT		0.522	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		116	388	1	0	3.39137e-47	0.00361	6.86993e-47	116	388				
KIF2B	84643	broad.mit.edu	37	17	51901354	51901354	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:51901354G>T	ENST00000268919.4	+	1	1116	c.960G>T	c.(958-960)acG>acT	p.T320T		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	320	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.			T -> K (in Ref. 2; BAB71406). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T320T(2)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTCAGGAACGGCCCAAGATT	0.522																																							uc002iua.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(5)|skin(3)	8						c.(958-960)ACG>ACT		kinesin family member 2B							102.0	98.0	99.0					17																	51901354		2203	4300	6503	SO:0001819	synonymous_variant	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901354G>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.960G>T	17.37:g.51901354G>T						uc010wna.1_RNA	p.T320T	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	1116	+			320	T -> K (in Ref. 2; BAB71406).		Kinesin-motor.		Q96MA2|Q9BXG6	Silent	SNP	ENST00000268919.4	37	c.960G>T	CCDS32685.1																																																																																				0.522	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		41	129	1	0	3.61848e-18	0.007835	5.72562e-18	41	129				
DDX42	11325	broad.mit.edu	37	17	61864590	61864590	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:61864590A>C	ENST00000578681.1	+	3	782	c.181A>C	c.(181-183)Aaa>Caa	p.K61Q	DDX42_ENST00000583590.1_Missense_Mutation_p.K61Q|DDX42_ENST00000457800.2_Missense_Mutation_p.K61Q|DDX42_ENST00000359353.5_Intron|DDX42_ENST00000389924.2_Missense_Mutation_p.K61Q	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	61					protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.K61Q(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TTCTTTCTACAAAATTGGATC	0.448																																							uc002jbu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)|large_intestine(1)	5						c.(181-183)AAA>CAA		DEAD box polypeptide 42 protein							89.0	90.0	90.0					17																	61864590		2203	4300	6503	SO:0001583	missense	11325				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr17:61864590A>C	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.181A>C	17.37:g.61864590A>C	ENSP00000464050:p.Lys61Gln					DDX42_uc002jbv.2_Missense_Mutation_p.K61Q	p.K61Q	NM_007372	NP_031398	Q86XP3	DDX42_HUMAN			3	438	+			61					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	c.181A>C	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	A	29.0	4.965690	0.92855	.	.	ENSG00000198231	ENST00000389924;ENST00000457800	T;T	0.20738	2.05;2.05	5.79	5.79	0.91817	.	0.632288	0.16640	N	0.205697	T	0.25457	0.0619	L	0.50333	1.59	0.80722	D	1	P	0.44627	0.839	B	0.43623	0.425	T	0.01706	-1.1291	10	0.27082	T	0.32	-18.1989	15.303	0.73969	1.0:0.0:0.0:0.0	.	61	Q86XP3	DDX42_HUMAN	Q	61	ENSP00000374574:K61Q;ENSP00000390121:K61Q	ENSP00000374574:K61Q	K	+	1	0	DDX42	59218322	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.252000	0.95491	2.200000	0.70718	0.454000	0.30748	AAA		0.448	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		44	131	0	0	0	0.00361	0	44	131				
SCN4A	6329	broad.mit.edu	37	17	62019252	62019252	+	Missense_Mutation	SNP	C	C	T	rs150423825		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:62019252C>T	ENST00000435607.1	-	24	4466	c.4390G>A	c.(4390-4392)Ggg>Agg	p.G1464R	SCN4A_ENST00000578147.1_Missense_Mutation_p.G1464R	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1464					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.G1464R(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCCTTGGCCCCGCGGATCAGC	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		17112	0.0		0.001	False		,,,				2504	0.0						uc002jds.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(4390-4392)GGG>AGG		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						68.0	67.0	67.0					17																	62019252		2203	4300	6503	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62019252C>T	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4390G>A	17.37:g.62019252C>T	ENSP00000396320:p.Gly1464Arg						p.G1464R	NM_000334	NP_000325	P35499	SCN4A_HUMAN			24	4467	-			1464			Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).|IV.		Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.4390G>A	CCDS45761.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.96	3.923708	0.73213	.	.	ENSG00000007314	ENST00000435607	D	0.98150	-4.75	3.71	3.71	0.42584	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.95360	0.8494	L	0.50919	1.6	0.80722	D	1	P	0.37330	0.59	B	0.32533	0.147	D	0.95899	0.8913	10	0.62326	D	0.03	.	15.0081	0.71527	0.0:1.0:0.0:0.0	.	1464	P35499	SCN4A_HUMAN	R	1464	ENSP00000396320:G1464R	ENSP00000396320:G1464R	G	-	1	0	SCN4A	59372984	1.000000	0.71417	0.892000	0.35008	0.647000	0.38526	7.596000	0.82721	2.075000	0.62263	0.407000	0.27541	GGG		0.617	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		22	42	0	0	0	0.002299	0	22	42				
TEX2	55852	broad.mit.edu	37	17	62230430	62230430	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:62230430C>G	ENST00000583097.1	-	10	3187	c.3015G>C	c.(3013-3015)gaG>gaC	p.E1005D	TEX2_ENST00000258991.3_Missense_Mutation_p.E1012D|TEX2_ENST00000581812.1_5'UTR|TEX2_ENST00000584379.1_Missense_Mutation_p.E1005D			Q8IWB9	TEX2_HUMAN	testis expressed 2	1005					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)		p.E1012D(2)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TAAACTCTGTCTCTGTTGCTT	0.388																																							uc002jec.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(3013-3015)GAG>GAC		testis expressed sequence 2							149.0	143.0	145.0					17																	62230430		2203	4300	6503	SO:0001583	missense	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62230430C>G	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.3015G>C	17.37:g.62230430C>G	ENSP00000462665:p.Glu1005Asp					TEX2_uc002jed.2_Missense_Mutation_p.E1012D|TEX2_uc002jee.2_Missense_Mutation_p.E1005D	p.E1005D	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	10	3188	-			1005					Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	37	c.3015G>C		.	.	.	.	.	.	.	.	.	.	C	13.26	2.182701	0.38511	.	.	ENSG00000136478	ENST00000258991	T	0.52526	0.66	6.03	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.68384	0.2995	M	0.72353	2.195	0.58432	D	0.999997	D;D	0.54601	0.957;0.967	D;P	0.64410	0.925;0.898	T	0.72141	-0.4380	10	0.87932	D	0	-23.5882	18.4532	0.90711	0.0:0.9378:0.0:0.0622	.	1012;1005	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	D	1012	ENSP00000258991:E1012D	ENSP00000258991:E1012D	E	-	3	2	TEX2	59584162	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.815000	0.55651	0.896000	0.36366	-0.797000	0.03246	GAG		0.388	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		16	88	0	0	0	0.003163	0	16	88				
ABCA10	10349	broad.mit.edu	37	17	67190582	67190582	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:67190582C>A	ENST00000269081.4	-	13	2198	c.1289G>T	c.(1288-1290)gGa>gTa	p.G430V	ABCA10_ENST00000416101.2_Missense_Mutation_p.G430V	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	430	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.G430V(2)		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)					TTTACCAGCTCCATTATGCCC	0.333																																							uc010dfa.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1288-1290)GGA>GTA		ATP-binding cassette, sub-family A, member 10							148.0	138.0	142.0					17																	67190582		2203	4298	6501	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67190582C>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.1289G>T	17.37:g.67190582C>A	ENSP00000269081:p.Gly430Val					ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.G31V	p.G430V	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			13	2168	-	Breast(10;6.95e-12)		430			ATP 1 (Potential).|ABC transporter 1.		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.1289G>T	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078179	0.76528	.	.	ENSG00000154263	ENST00000269081;ENST00000416101	D;D	0.99841	-2.46;-7.09	3.8	3.8	0.43715	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.31936	U	0.006836	D	0.99904	0.9954	H	0.99211	4.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.95825	0.8853	10	0.87932	D	0	.	15.8508	0.78930	0.0:1.0:0.0:0.0	.	430;430	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	V	430	ENSP00000269081:G430V;ENSP00000407772:G430V	ENSP00000269081:G430V	G	-	2	0	ABCA10	64702177	1.000000	0.71417	0.417000	0.26559	0.992000	0.81027	6.850000	0.75420	1.956000	0.56807	0.557000	0.71058	GGA		0.333	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		24	119	1	0	1.66031e-10	0.003954	2.1136e-10	24	119				
EPB41L3	23136	broad.mit.edu	37	18	5416157	5416157	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:5416157C>A	ENST00000341928.2	-	13	2067	c.1727G>T	c.(1726-1728)aGa>aTa	p.R576I	EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R576I|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000540638.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	576	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.R576I(2)		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						AGTTTGCTGTCTGTAGCTAAA	0.577																																							uc002kmt.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)	5						c.(1726-1728)AGA>ATA		erythrocyte membrane protein band 4.1-like 3							105.0	97.0	99.0					18																	5416157		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.chr18:5416157C>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.1727G>T	18.37:g.5416157C>A	ENSP00000343158:p.Arg576Ile					EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron	p.R576I	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			13	1813	-			576			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.1727G>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601173	0.46423	.	.	ENSG00000082397	ENST00000341928;ENST00000342933	T;T	0.81330	-1.48;-1.48	5.76	4.72	0.59763	.	1.082240	0.06996	N	0.822379	T	0.68348	0.2991	L	0.29908	0.895	0.80722	D	1	P	0.37955	0.612	B	0.32289	0.143	T	0.60229	-0.7304	10	0.39692	T	0.17	.	5.407	0.16326	0.0:0.1631:0.0:0.8369	.	576	Q9Y2J2	E41L3_HUMAN	I	576	ENSP00000343158:R576I;ENSP00000341138:R576I	ENSP00000343158:R576I	R	-	2	0	EPB41L3	5406157	1.000000	0.71417	0.857000	0.33713	0.996000	0.88848	3.196000	0.51020	1.201000	0.43203	0.563000	0.77884	AGA		0.577	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		41	132	1	0	1.22674e-20	0.00874	2.03083e-20	41	132				
TUBB6	84617	broad.mit.edu	37	18	12325202	12325202	+	Silent	SNP	G	G	C	rs148645230		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:12325202G>C	ENST00000317702.5	+	4	648	c.414G>C	c.(412-414)tcG>tcC	p.S138S	TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_Missense_Mutation_p.R111P|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000586653.1_3'UTR			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	138					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.S138S(2)		endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		TCACGCACTCGCTGGGCGGCG	0.657																																							uc002kqw.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(412-414)TCG>TCC		tubulin, beta 6							78.0	64.0	69.0					18																	12325202		2203	4300	6503	SO:0001819	synonymous_variant	84617				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr18:12325202G>C	AK001295	CCDS11858.1	18p11.21	2011-10-10	2011-10-10		ENSG00000176014	ENSG00000176014		"""Tubulins"""	20776	protein-coding gene	gene with protein product	"""tubulin beta MGC4083"", ""class V beta-tubulin"""	615103	"""tubulin, beta 6"""			12477932	Standard	NM_032525		Approved	MGC4083, HsT1601	uc002kqw.3	Q9BUF5	OTTHUMG00000131692	ENST00000317702.5:c.414G>C	18.37:g.12325202G>C						TUBB6_uc002kqv.2_Silent_p.S66S|TUBB6_uc010dld.2_RNA|TUBB6_uc002kqx.2_Silent_p.S101S|TUBB6_uc002kqy.2_Intron	p.S138S	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN		READ - Rectum adenocarcinoma(1;0.0649)	4	459	+			138					B3KM76|Q9HA42	Silent	SNP	ENST00000317702.5	37	c.414G>C	CCDS11858.1																																																																																				0.657	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254600.2	NM_032525		35	61	0	0	0	0.003271	0	35	61				
LDLRAD4	753	broad.mit.edu	37	18	13645329	13645329	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:13645329G>T	ENST00000359446.5	+	6	1062	c.594G>T	c.(592-594)atG>atT	p.M198I	LDLRAD4_ENST00000587757.1_Missense_Mutation_p.M161I|LDLRAD4_ENST00000361205.4_Missense_Mutation_p.M198I|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.M180I|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.M100I|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.M143I|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.M121I|RP11-701H16.4_ENST00000588397.1_RNA	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	198					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)	p.M161I(2)|p.M198I(2)									AACAGCAGATGGAACTCAACC	0.567																																							uc002ksa.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|skin(1)	3						c.(592-594)ATG>ATT		hypothetical protein LOC753 isoform alpha 1							81.0	88.0	85.0					18																	13645329		2203	4300	6503	SO:0001583	missense	753					integral to membrane|plasma membrane		g.chr18:13645329G>T	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.594G>T	18.37:g.13645329G>T	ENSP00000352420:p.Met198Ile					C18orf1_uc002ksb.2_Missense_Mutation_p.M180I|C18orf1_uc002kse.2_Missense_Mutation_p.M161I|C18orf1_uc002ksf.2_Missense_Mutation_p.M143I|C18orf1_uc002ksg.1_Missense_Mutation_p.M121I|C18orf1_uc002ksh.1_Missense_Mutation_p.M140I|C18orf1_uc002ksi.1_Missense_Mutation_p.M122I	p.M198I	NM_181481	NP_852146	O15165	CR001_HUMAN		READ - Rectum adenocarcinoma(73;0.0642)	7	1262	+			198			Cytoplasmic (Potential).		B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	ENST00000359446.5	37	c.594G>T	CCDS32793.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665190	0.47677	.	.	ENSG00000168675	ENST00000361205;ENST00000399848;ENST00000359446;ENST00000399847;ENST00000361303;ENST00000435606	T;T	0.27720	1.7;1.65	5.17	3.26	0.37387	.	0.123821	0.64402	D	0.000001	T	0.33118	0.0852	M	0.69823	2.125	0.58432	D	0.999995	B;B;B;B;B;B	0.23650	0.019;0.089;0.043;0.089;0.089;0.031	B;B;B;B;B;B	0.23275	0.018;0.045;0.03;0.045;0.028;0.02	T	0.11941	-1.0567	10	0.49607	T	0.09	-9.313	11.8518	0.52415	0.0:0.1522:0.7214:0.1264	.	122;140;143;161;180;198	O15165-4;O15165-3;E9PAY9;B3KNT9;O15165-2;O15165	.;.;.;.;.;CR001_HUMAN	I	198;180;161;143;140;122	ENSP00000354753:M198I;ENSP00000382741:M180I	ENSP00000352420:M161I	M	+	3	0	C18orf1	13635329	1.000000	0.71417	0.977000	0.42913	0.998000	0.95712	3.741000	0.55090	0.535000	0.28714	0.655000	0.94253	ATG		0.567	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		37	122	1	0	7.61165e-28	0.003755	1.39488e-27	37	122				
ROCK1	6093	broad.mit.edu	37	18	18622649	18622649	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:18622649T>C	ENST00000399799.2	-	7	1637	c.697A>G	c.(697-699)Aca>Gca	p.T233A		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	233	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.T233A(2)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CCAACCGCTGTATCACATCGT	0.378																																							uc002kte.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|breast(2)|central_nervous_system(1)	5						c.(697-699)ACA>GCA		Rho-associated, coiled-coil containing protein							98.0	91.0	94.0					18																	18622649		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.chr18:18622649T>C		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.697A>G	18.37:g.18622649T>C	ENSP00000382697:p.Thr233Ala						p.T233A	NM_005406	NP_005397	Q13464	ROCK1_HUMAN			7	1638	-	Melanoma(1;0.165)		233			Protein kinase.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.697A>G	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	T	26.1	4.704789	0.88924	.	.	ENSG00000067900	ENST00000399799	T	0.27104	1.69	4.83	4.83	0.62350	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.107041	0.64402	D	0.000007	T	0.30696	0.0773	L	0.55017	1.72	0.80722	D	1	B	0.13145	0.007	B	0.30316	0.114	T	0.13764	-1.0497	10	0.66056	D	0.02	.	14.8815	0.70537	0.0:0.0:0.0:1.0	.	233	Q13464	ROCK1_HUMAN	A	233	ENSP00000382697:T233A	ENSP00000382697:T233A	T	-	1	0	ROCK1	16876647	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.825000	0.86693	2.168000	0.68352	0.533000	0.62120	ACA		0.378	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		35	96	0	0	0	0.003755	0	35	96				
LAMA3	3909	broad.mit.edu	37	18	21416983	21416983	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:21416983G>T	ENST00000313654.9	+	25	3264	c.3023G>T	c.(3022-3024)cGc>cTc	p.R1008L	LAMA3_ENST00000399516.3_Missense_Mutation_p.R1008L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1008	Domain IV 1 (domain IV B).				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.R1008L(2)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CACATGAGCCGCATCGCCATG	0.488																																							uc002kuq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(3022-3024)CGC>CTC		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						101.0	110.0	107.0					18																	21416983		2148	4266	6414	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21416983G>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.3023G>T	18.37:g.21416983G>T	ENSP00000324532:p.Arg1008Leu					LAMA3_uc002kur.2_Missense_Mutation_p.R1008L	p.R1008L	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			25	3109	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1008			Domain IV 1 (domain IV B).		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.3023G>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412523	0.83340	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.20069	2.12;2.1	5.74	5.74	0.90152	.	.	.	.	.	T	0.44180	0.1281	M	0.81802	2.56	0.80722	D	1	D;D	0.65815	0.989;0.995	P;P	0.56343	0.796;0.737	T	0.23048	-1.0199	9	0.33141	T	0.24	.	18.1036	0.89513	0.0:0.0:1.0:0.0	.	1008;1008	Q6VU67;Q16787	.;LAMA3_HUMAN	L	1008;1008;1006	ENSP00000324532:R1008L;ENSP00000382432:R1008L	ENSP00000324532:R1008L	R	+	2	0	LAMA3	19670981	0.949000	0.32298	0.322000	0.25334	0.019000	0.09904	3.323000	0.52014	2.717000	0.92951	0.655000	0.94253	CGC		0.488	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		16	76	1	0	8.00594e-06	0.007413	8.81101e-06	16	76				
ZNF521	25925	broad.mit.edu	37	18	22902056	22902056	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:22902056C>A	ENST00000361524.3	-	3	284	c.136G>T	c.(136-138)Gtg>Ttg	p.V46L	ZNF521_ENST00000579111.1_5'UTR|ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000538137.2_Missense_Mutation_p.V46L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	46					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.V46L(2)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CAGCTGTGCACAGCTTCGTCT	0.463			T	PAX5	ALL																																		uc002kvk.2		NA		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|lung(1)	7						c.(136-138)GTG>TTG		zinc finger protein 521							155.0	141.0	146.0					18																	22902056		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22902056C>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.136G>T	18.37:g.22902056C>A	ENSP00000354794:p.Val46Leu					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.V46L|ZNF521_uc002kvl.2_5'UTR	p.V46L	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			3	383	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		46					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.136G>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364987	0.61513	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.30448	1.53;1.53	5.91	5.91	0.95273	.	0.194511	0.34338	N	0.004055	T	0.17789	0.0427	N	0.08118	0	0.38167	D	0.939214	B	0.02656	0.0	B	0.06405	0.002	T	0.14117	-1.0484	10	0.10377	T	0.69	-19.4311	18.4701	0.90771	0.0:1.0:0.0:0.0	.	46	Q96K83	ZN521_HUMAN	L	46;80;46	ENSP00000354794:V46L;ENSP00000382352:V46L	ENSP00000354794:V46L	V	-	1	0	ZNF521	21156054	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	5.298000	0.65710	2.794000	0.96219	0.655000	0.94253	GTG		0.463	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		46	96	1	0	1.06522e-23	0.003214	1.84077e-23	46	96				
CHST9	83539	broad.mit.edu	37	18	24604116	24604116	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:24604116C>T	ENST00000284224.8	-	4	443	c.166G>A	c.(166-168)Gga>Aga	p.G56R	AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.G56R|CHST9_ENST00000580774.1_Missense_Mutation_p.G56R	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	56					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.G56R(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TTCACTGGTCCCCATCCTGAA	0.378																																							uc002kwd.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(166-168)GGA>AGA		GalNAc-4-sulfotransferase 2							86.0	82.0	83.0					18																	24604116		1847	4084	5931	SO:0001583	missense	83539				carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr18:24604116C>T	AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"""Sulfotransferases, membrane-bound"""	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.166G>A	18.37:g.24604116C>T	ENSP00000284224:p.Gly56Arg					C18orf16_uc010xbm.1_Intron|CHST9_uc002kwc.2_5'UTR|CHST9_uc002kwe.2_Missense_Mutation_p.G56R	p.G56R	NM_031422	NP_113610	Q7L1S5	CHST9_HUMAN			3	364	-	all_lung(6;0.0145)|Ovarian(20;0.124)		56			Lumenal (Potential).		Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	ENST00000284224.8	37	c.166G>A	CCDS42422.1	.	.	.	.	.	.	.	.	.	.	C	8.968	0.972174	0.18736	.	.	ENSG00000154080	ENST00000284224	T	0.68025	-0.3	4.82	1.71	0.24356	.	1.342030	0.05482	U	0.554983	T	0.40743	0.1129	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28744	-1.0034	10	0.11485	T	0.65	4.9227	2.904	0.05715	0.2319:0.528:0.0:0.2401	.	56	Q7L1S5	CHST9_HUMAN	R	56	ENSP00000284224:G56R	ENSP00000284224:G56R	G	-	1	0	CHST9	22858114	0.030000	0.19436	0.019000	0.16419	0.132000	0.20833	0.165000	0.16564	0.584000	0.29591	0.460000	0.39030	GGA		0.378	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422		8	39	0	0	0	0.004482	0	8	39				
CDH2	1000	broad.mit.edu	37	18	25727729	25727729	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:25727729C>A	ENST00000269141.3	-	2	503	c.80G>T	c.(79-81)gGt>gTt	p.G27V		NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	27					adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.G27V(2)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGCGATTTCACCAGAAGCCTC	0.413																																							uc002kwg.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)	4						c.(79-81)GGT>GTT		cadherin 2, type 1 preproprotein							63.0	57.0	59.0					18																	25727729		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25727729C>A	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.80G>T	18.37:g.25727729C>A	ENSP00000269141:p.Gly27Val						p.G27V	NM_001792	NP_001783	P19022	CADH2_HUMAN			2	539	-			27					A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.80G>T	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174770	0.38413	.	.	ENSG00000170558	ENST00000269141	T	0.56941	0.43	5.64	4.77	0.60923	.	0.293087	0.31963	N	0.006782	T	0.30135	0.0755	N	0.08118	0	0.80722	D	1	B	0.34372	0.451	B	0.27076	0.076	T	0.11966	-1.0566	10	0.23891	T	0.37	.	14.8114	0.69996	0.0:0.9305:0.0:0.0695	.	27	P19022	CADH2_HUMAN	V	27	ENSP00000269141:G27V	ENSP00000269141:G27V	G	-	2	0	CDH2	23981727	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.979000	0.56888	1.517000	0.48917	0.650000	0.86243	GGT		0.413	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		9	36	1	0	3.86212e-05	0.008291	4.16897e-05	9	36				
SLC39A6	25800	broad.mit.edu	37	18	33706321	33706321	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:33706321T>A	ENST00000590986.1	-	2	939	c.650A>T	c.(649-651)gAt>gTt	p.D217V	SLC39A6_ENST00000440549.2_Intron|SLC39A6_ENST00000269187.5_Missense_Mutation_p.D217V			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	217					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.D217V(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						GCTGCTTACATCTTTGGGGAA	0.498																																							uc010dmy.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(649-651)GAT>GTT		solute carrier family 39 (zinc transporter),							177.0	168.0	171.0					18																	33706321		1890	4112	6002	SO:0001583	missense	25800					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity	g.chr18:33706321T>A	U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"""Solute carriers"""	18607	protein-coding gene	gene with protein product		608731	"""solute carrier family 39 (metal ion transporter), member 6"""			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.650A>T	18.37:g.33706321T>A	ENSP00000465915:p.Asp217Val					SLC39A6_uc002kzj.2_Intron	p.D217V	NM_012319	NP_036451	Q13433	S39A6_HUMAN			2	940	-			217			Extracellular (Potential).		B4DR49|B4E224|Q8IXR3|Q96HP5	Missense_Mutation	SNP	ENST00000590986.1	37	c.650A>T	CCDS42428.1	.	.	.	.	.	.	.	.	.	.	T	12.51	1.959901	0.34565	.	.	ENSG00000141424	ENST00000269187	T	0.21031	2.03	5.92	3.4	0.38934	.	1.835460	0.02089	N	0.052987	T	0.16514	0.0397	L	0.28274	0.84	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.28744	-1.0034	10	0.27785	T	0.31	-15.3253	4.9705	0.14113	0.1603:0.085:0.0:0.7547	.	217	Q13433	S39A6_HUMAN	V	217	ENSP00000269187:D217V	ENSP00000269187:D217V	D	-	2	0	SLC39A6	31960319	0.117000	0.22190	0.991000	0.47740	0.944000	0.59088	0.234000	0.17930	1.063000	0.40649	0.459000	0.35465	GAT		0.498	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000444136.1			68	159	0	0	0	0.00361	0	68	159				
FHOD3	80206	broad.mit.edu	37	18	34349242	34349242	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:34349242T>A	ENST00000359247.4	+	23	4039	c.4039T>A	c.(4039-4041)Tgg>Agg	p.W1347R	FHOD3_ENST00000592128.1_Missense_Mutation_p.W343R|FHOD3_ENST00000590592.1_Missense_Mutation_p.W1547R|FHOD3_ENST00000445677.1_Missense_Mutation_p.W1326R|FHOD3_ENST00000257209.4_Missense_Mutation_p.W1364R|FHOD3_ENST00000591635.1_Missense_Mutation_p.W560R	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1347					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)		p.W1364R(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACTAGTTCCTGGACTATGGG	0.473																																							uc002kzt.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|large_intestine(2)|breast(2)|ovary(1)	8						c.(4039-4041)TGG>AGG		formin homology 2 domain containing 3							117.0	114.0	115.0					18																	34349242		2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34349242T>A	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.4039T>A	18.37:g.34349242T>A	ENSP00000352186:p.Trp1347Arg					FHOD3_uc002kzs.1_Missense_Mutation_p.W1364R|FHOD3_uc010dmz.1_Missense_Mutation_p.W1079R|FHOD3_uc010dnb.1_Silent_p.P284P	p.W1347R	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN			23	4136	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	1347					A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.4039T>A		.	.	.	.	.	.	.	.	.	.	T	16.34	3.096245	0.56075	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.29655	1.56;1.57;1.58	5.52	5.52	0.82312	.	0.059613	0.64402	D	0.000001	T	0.48874	0.1524	L	0.57536	1.79	0.58432	D	0.999999	D;D;B	0.89917	1.0;0.999;0.056	D;D;B	0.91635	0.999;0.997;0.1	T	0.37103	-0.9720	10	0.21540	T	0.41	.	13.0602	0.59002	0.0:0.0:0.0:1.0	.	1326;1347;1364	Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;FHOD3_HUMAN;.	R	1364;1347;1326	ENSP00000257209:W1364R;ENSP00000352186:W1347R;ENSP00000411430:W1326R	ENSP00000257209:W1364R	W	+	1	0	FHOD3	32603240	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	7.093000	0.76937	2.099000	0.63709	0.533000	0.62120	TGG		0.473	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		35	59	0	0	0	0.005524	0	35	59				
CELF4	56853	broad.mit.edu	37	18	34854816	34854816	+	Silent	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:34854816G>C	ENST00000591282.1	-	5	608	c.609C>G	c.(607-609)gcC>gcG	p.A203A	RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000420428.2_Silent_p.A203A|CELF4_ENST00000361795.5_Silent_p.A202A|CELF4_ENST00000588597.1_Silent_p.A192A|CELF4_ENST00000591287.1_Silent_p.A202A|CELF4_ENST00000601019.1_Silent_p.A202A|CELF4_ENST00000334919.5_Silent_p.A193A|RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000603232.1_Silent_p.A203A|CELF4_ENST00000412753.1_Silent_p.A203A			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	203	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.|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.A203A(2)		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						CCTGCGCCTCGGCGTGGGAGG	0.736																																							uc002lae.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(607-609)GCC>GCG		bruno-like 4, RNA binding protein isoform 1							10.0	9.0	10.0					18																	34854816		2147	4194	6341	SO:0001819	synonymous_variant	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.chr18:34854816G>C	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.609C>G	18.37:g.34854816G>C						CELF4_uc010dnd.1_Silent_p.A202A|CELF4_uc002lag.2_Silent_p.A193A|CELF4_uc002laf.2_Silent_p.A198A|CELF4_uc002lai.2_Silent_p.A188A|CELF4_uc002lah.1_5'Flank|CELF4_uc002laj.1_5'Flank	p.A203A	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN			5	1005	-			203			Sufficient for RNA-binding and MSE- dependent splicing activity.|RRM 2.		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Silent	SNP	ENST00000591282.1	37	c.609C>G	CCDS32818.1																																																																																				0.736	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		3	13	0	0	0	0.004672	0	3	13				
TCEB3C	162699	broad.mit.edu	37	18	44555227	44555227	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:44555227G>A	ENST00000330682.2	-	1	1222	c.987C>T	c.(985-987)gcC>gcT	p.A329A	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	329	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A329A(2)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GGAGCTGGCAGGCAGGCCTGG	0.667																																							uc010xdb.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(985-987)GCC>GCT		transcription elongation factor B polypeptide							28.0	29.0	29.0					18																	44555227		1479	3030	4509	SO:0001819	synonymous_variant	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44555227G>A	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.987C>T	18.37:g.44555227G>A						KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.A329A	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN			1	1223	-			329			Activation domain (By similarity).			Silent	SNP	ENST00000330682.2	37	c.987C>T	CCDS11931.1																																																																																				0.667	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		15	557	0	0	0	0.002299	0	15	557				
MAPK4	5596	broad.mit.edu	37	18	48248367	48248367	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:48248367G>T	ENST00000400384.2	+	4	1787	c.751G>T	c.(751-753)Gaa>Taa	p.E251*	MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Nonsense_Mutation_p.E40*	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	251	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.E251*(2)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		AATCCGGGAGGAAGACAAGGA	0.577																																							uc002lev.2		NA																	2	Substitution - Nonsense(2)		lung(2)	lung(4)|skin(2)	6						c.(751-753)GAA>TAA		mitogen-activated protein kinase 4							74.0	83.0	80.0					18																	48248367		2065	4217	6282	SO:0001587	stop_gained	5596				cell cycle		ATP binding|MAP kinase activity	g.chr18:48248367G>T	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.751G>T	18.37:g.48248367G>T	ENSP00000383234:p.Glu251*					MAPK4_uc010xdm.1_Nonsense_Mutation_p.E40*|MAPK4_uc010doz.2_Intron	p.E251*	NM_002747	NP_002738	P31152	MK04_HUMAN		Colorectal(21;0.156)	4	1751	+		Colorectal(6;0.0297)	251			Protein kinase.		A1A4C4|Q0VG04	Nonsense_Mutation	SNP	ENST00000400384.2	37	c.751G>T	CCDS42437.1	.	.	.	.	.	.	.	.	.	.	G	38	6.795616	0.97845	.	.	ENSG00000141639	ENST00000400384;ENST00000540640	.	.	.	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.3421	18.1051	0.89517	0.0:0.0:1.0:0.0	.	.	.	.	X	251;40	.	ENSP00000383234:E251X	E	+	1	0	MAPK4	46502365	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.866000	0.87056	2.565000	0.86533	0.561000	0.74099	GAA		0.577	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		14	62	1	0	0.00185496	0.001855	0.00194118	14	62				
SERPINB2	5055	broad.mit.edu	37	18	61570386	61570386	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:61570386G>T	ENST00000299502.4	+	8	1175	c.1095G>T	c.(1093-1095)gaG>gaT	p.E365D	SERPINB2_ENST00000457692.1_Missense_Mutation_p.E365D	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	365					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E365D(2)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	TGAATGAGGAGGGCACTGAAG	0.502																																							uc010xeu.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)|skin(1)	2						c.(1093-1095)GAG>GAT		serine (or cysteine) proteinase inhibitor, clade	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)						106.0	95.0	98.0					18																	61570386		2203	4300	6503	SO:0001583	missense	5055				anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr18:61570386G>T	Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"""Serine (or cysteine) peptidase inhibitors"""	8584	protein-coding gene	gene with protein product		173390	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"""	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.1095G>T	18.37:g.61570386G>T	ENSP00000299502:p.Glu365Asp					SERPINB2_uc002ljo.2_Missense_Mutation_p.E365D|SERPINB2_uc010dqh.2_Missense_Mutation_p.E295D|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron	p.E365D	NM_001143818	NP_001137290	P05120	PAI2_HUMAN			9	1428	+		Esophageal squamous(42;0.131)	365					Q96E96	Missense_Mutation	SNP	ENST00000299502.4	37	c.1095G>T	CCDS11989.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112934	0.77210	.	.	ENSG00000197632	ENST00000299502;ENST00000457692	T;T	0.14022	2.54;2.54	5.64	4.75	0.60458	Serpin domain (3);	0.048147	0.85682	D	0.000000	T	0.28732	0.0712	M	0.82323	2.585	0.80722	D	1	D	0.56746	0.977	P	0.55011	0.766	T	0.02574	-1.1139	10	0.72032	D	0.01	.	6.3921	0.21593	0.2276:0.0:0.7724:0.0	.	365	P05120	PAI2_HUMAN	D	365	ENSP00000299502:E365D;ENSP00000401645:E365D	ENSP00000299502:E365D	E	+	3	2	SERPINB2	59721366	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	1.111000	0.31159	2.812000	0.96745	0.557000	0.71058	GAG		0.502	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575		18	65	1	0	7.45023e-12	0.010504	1.00699e-11	18	65				
CDH7	1005	broad.mit.edu	37	18	63511299	63511299	+	Silent	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:63511299G>C	ENST00000397968.2	+	7	1659	c.1233G>C	c.(1231-1233)gtG>gtC	p.V411V	CDH7_ENST00000536984.2_Silent_p.V411V|CDH7_ENST00000323011.3_Silent_p.V411V	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	411	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V411V(4)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				ATAGCCCTGTGAGGTAAAAAC	0.418																																							uc002ljz.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(2)|pancreas(1)|skin(1)	4						c.(1231-1233)GTG>GTC		cadherin 7, type 2 preproprotein							114.0	104.0	107.0					18																	63511299		2203	4300	6503	SO:0001819	synonymous_variant	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63511299G>C	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1233G>C	18.37:g.63511299G>C						CDH7_uc002lka.2_Silent_p.V411V|CDH7_uc002lkb.2_Silent_p.V411V	p.V411V	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			7	1558	+		Esophageal squamous(42;0.129)	411			Extracellular (Potential).|Cadherin 4.		Q9H157	Silent	SNP	ENST00000397968.2	37	c.1233G>C	CCDS11993.1																																																																																				0.418	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		39	78	0	0	0	0.00623	0	39	78				
MUC16	94025	broad.mit.edu	37	19	9020128	9020128	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:9020128A>T	ENST00000397910.4	-	21	37570	c.37367T>A	c.(37366-37368)gTg>gAg	p.V12456E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12458	SEA 3. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.V12456E(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGGCATCCACTCCAGTGGC	0.517																																							uc002mkp.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(37366-37368)GTG>GAG		mucin 16							119.0	104.0	108.0					19																	9020128		1916	4141	6057	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9020128A>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37367T>A	19.37:g.9020128A>T	ENSP00000381008:p.Val12456Glu						p.V12456E	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			21	37571	-			12458			Extracellular (Potential).|SEA 3.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.37367T>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	8.812	0.935519	0.18206	.	.	ENSG00000181143	ENST00000397910	T	0.57595	0.39	3.28	3.28	0.37604	.	.	.	.	.	T	0.72740	0.3498	M	0.89095	3.005	.	.	.	D	0.71674	0.998	D	0.72075	0.976	T	0.81035	-0.1115	8	0.87932	D	0	.	8.6259	0.33888	1.0:0.0:0.0:0.0	.	12456	B5ME49	.	E	12456	ENSP00000381008:V12456E	ENSP00000381008:V12456E	V	-	2	0	MUC16	8881128	0.139000	0.22563	0.005000	0.12908	0.013000	0.08279	5.088000	0.64486	1.440000	0.47531	0.449000	0.29647	GTG		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		48	92	0	0	0	0.00361	0	48	92				
MUC16	94025	broad.mit.edu	37	19	9047436	9047436	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:9047436C>A	ENST00000397910.4	-	5	34398	c.34195G>T	c.(34195-34197)Gat>Tat	p.D11399Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11401	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.D7032Y(2)|p.D11399Y(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTGGTACATCAGGTGAGACA	0.463																																							uc002mkp.2		NA																	4	Substitution - Missense(4)		lung(4)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(34195-34197)GAT>TAT		mucin 16							231.0	215.0	220.0					19																	9047436		1933	4147	6080	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9047436C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34195G>T	19.37:g.9047436C>A	ENSP00000381008:p.Asp11399Tyr						p.D11399Y	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	34399	-			11401			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.34195G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	6.983	0.551412	0.13374	.	.	ENSG00000181143	ENST00000397910	T	0.02345	4.33	4.09	-6.99	0.01605	.	.	.	.	.	T	0.01222	0.0040	N	0.08118	0	.	.	.	P	0.45176	0.852	B	0.38378	0.272	T	0.41342	-0.9514	8	0.87932	D	0	.	1.4883	0.02451	0.1251:0.2079:0.2483:0.4186	.	11399	B5ME49	.	Y	11399	ENSP00000381008:D11399Y	ENSP00000381008:D11399Y	D	-	1	0	MUC16	8908436	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.038000	0.00634	-1.311000	0.02309	-0.223000	0.12442	GAT		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		48	86	1	0	1.17673e-23	0.00361	2.02902e-23	48	86				
ACP5	54	broad.mit.edu	37	19	11687570	11687570	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:11687570A>T	ENST00000592828.1	-	5	752	c.350T>A	c.(349-351)gTc>gAc	p.V117D	ACP5_ENST00000412435.2_Missense_Mutation_p.V117D|ACP5_ENST00000218758.5_Missense_Mutation_p.V117D|ACP5_ENST00000433365.2_Missense_Mutation_p.V117D|ACP5_ENST00000590420.1_Intron	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	117					bone morphogenesis (GO:0060349)|bone resorption (GO:0045453)|defense response to Gram-positive bacterium (GO:0050830)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of superoxide anion generation (GO:0032929)|negative regulation of tumor necrosis factor production (GO:0032720)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	acid phosphatase activity (GO:0003993)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)	p.V117D(2)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						CTGGGCAGAGACATTGCCAAG	0.562																																							uc002msg.3		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(349-351)GTC>GAC		acid phosphatase 5, tartrate resistant							179.0	170.0	173.0					19																	11687570		2203	4300	6503	SO:0001583	missense	54				water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding	g.chr19:11687570A>T	X14618	CCDS12265.1	19p13.2	2012-10-02			ENSG00000102575	ENSG00000102575	3.1.3.2		124	protein-coding gene	gene with protein product	"""tartrate-resistant acid phosphatase"""	171640				8449511, 2338077	Standard	NM_001611		Approved	TRAP	uc002msj.4	P13686	OTTHUMG00000182036	ENST00000592828.1:c.350T>A	19.37:g.11687570A>T	ENSP00000468767:p.Val117Asp					ACP5_uc002msh.3_Missense_Mutation_p.V117D|ACP5_uc002msi.3_Missense_Mutation_p.V117D|ACP5_uc002msj.3_Missense_Mutation_p.V117D|ACP5_uc010dye.1_3'UTR	p.V117D	NM_001611	NP_001602	P13686	PPA5_HUMAN			3	496	-			117					A8K3V2|Q2TAB1|Q6IAS6|Q9UCJ5|Q9UCJ6|Q9UCJ7	Missense_Mutation	SNP	ENST00000592828.1	37	c.350T>A	CCDS12265.1	.	.	.	.	.	.	.	.	.	.	a	16.82	3.227407	0.58668	.	.	ENSG00000102575	ENST00000218758;ENST00000412435;ENST00000433365	D;D;D	0.84442	-1.85;-1.85;-1.85	4.87	4.87	0.63330	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.92004	0.7467	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93036	0.6453	10	0.87932	D	0	-0.814	13.4299	0.61049	1.0:0.0:0.0:0.0	.	117	P13686	PPA5_HUMAN	D	117	ENSP00000218758:V117D;ENSP00000392374:V117D;ENSP00000413456:V117D	ENSP00000218758:V117D	V	-	2	0	ACP5	11548570	1.000000	0.71417	0.829000	0.32907	0.004000	0.04260	8.169000	0.89672	1.820000	0.53075	0.533000	0.62120	GTC		0.562	ACP5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458881.1			26	145	0	0	0	0.00632	0	26	145				
F2RL3	9002	broad.mit.edu	37	19	17000732	17000732	+	Missense_Mutation	SNP	C	C	T	rs558028827		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:17000732C>T	ENST00000248076.3	+	2	788	c.458C>T	c.(457-459)aCg>aTg	p.T153M	F2RL3_ENST00000599210.1_3'UTR	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	153					blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)	p.T153M(1)		cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CGCCTGGCCACGGCCGCACTC	0.736													C|||	1	0.000199681	0.0	0.0	5008	,	,		14854	0.001		0.0	False		,,,				2504	0.0						uc002nfa.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(457-459)ACG>ATG		coagulation factor II (thrombin) receptor-like 3																																				SO:0001583	missense	9002				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity	g.chr19:17000732C>T	AF055917	CCDS12350.1	19p12	2012-08-08						"""GPCR / Class A : Protease activated receptors"""	3540	protein-coding gene	gene with protein product	"""proteinase-activated receptor-4"""	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0		ENST00000248076.3:c.458C>T	19.37:g.17000732C>T	ENSP00000248076:p.Thr153Met						p.T153M	NM_003950	NP_003941	Q96RI0	PAR4_HUMAN			2	633	+			153			Helical; Name=3; (Potential).		O76067|Q6DK42	Missense_Mutation	SNP	ENST00000248076.3	37	c.458C>T	CCDS12350.1	.	.	.	.	.	.	.	.	.	.	C	6.683	0.494549	0.12702	.	.	ENSG00000127533	ENST00000248076	T	0.36340	1.26	4.3	0.946	0.19549	GPCR, rhodopsin-like superfamily (1);	0.144445	0.45126	U	0.000386	T	0.27063	0.0663	L	0.38531	1.155	0.09310	N	0.999999	P	0.38551	0.636	B	0.39617	0.305	T	0.12091	-1.0561	10	0.59425	D	0.04	.	8.4787	0.33030	0.0:0.7402:0.0:0.2598	.	153	Q96RI0	PAR4_HUMAN	M	153	ENSP00000248076:T153M	ENSP00000248076:T153M	T	+	2	0	F2RL3	16861732	0.906000	0.30813	0.030000	0.17652	0.046000	0.14306	1.776000	0.38594	0.002000	0.14630	-0.339000	0.08088	ACG		0.736	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462875.1			4	5	0	0	0	0.009096	0	4	5				
ZNF208	7757	broad.mit.edu	37	19	22154978	22154978	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:22154978G>T	ENST00000397126.4	-	4	3006	c.2858C>A	c.(2857-2859)gCc>gAc	p.A953D	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	953					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.A853D(4)|p.A953D(2)		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)				TGACTTATAGGCTTTGCCACA	0.368																																							uc002nqp.2		NA																	6	Substitution - Missense(6)		lung(6)	ovary(5)|skin(2)	7						c.(2557-2559)GCC>GAC		zinc finger protein 208							38.0	40.0	40.0					19																	22154978		2040	4215	6255	SO:0001583	missense	7757							g.chr19:22154978G>T	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.2858C>A	19.37:g.22154978G>T	ENSP00000380315:p.Ala953Asp					ZNF208_uc002nqo.1_Intron	p.A853D	NM_007153	NP_009084					5	2707	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2558C>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	g	13.07	2.127412	0.37533	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.14266	2.52	3.0	-1.08	0.09936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17450	0.0419	.	.	.	0.09310	N	1	P	0.48998	0.918	P	0.52386	0.697	T	0.12528	-1.0544	8	0.54805	T	0.06	.	4.0975	0.09998	0.3337:0.339:0.3273:0.0	.	853	O43345	ZN208_HUMAN	D	953;853	ENSP00000380315:A953D	ENSP00000380315:A953D	A	-	2	0	ZNF208	21946818	0.000000	0.05858	0.000000	0.03702	0.224000	0.24922	-0.130000	0.10498	-0.575000	0.05982	0.109000	0.15622	GCC		0.368	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		16	29	1	0	2.32078e-09	0.003163	2.83093e-09	16	29				
IGFLR1	79713	broad.mit.edu	37	19	36230498	36230498	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:36230498A>G	ENST00000592537.1	-	5	851	c.751T>C	c.(751-753)Tct>Cct	p.S251P	IGFLR1_ENST00000587101.1_5'Flank|IGFLR1_ENST00000246532.1_Missense_Mutation_p.S251P|IGFLR1_ENST00000344990.3_Missense_Mutation_p.S63P|IGFLR1_ENST00000592889.1_Missense_Mutation_p.S63P|IGFLR1_ENST00000588992.1_Missense_Mutation_p.S83P|AD000671.6_ENST00000589807.1_3'UTR|KMT2B_ENST00000607650.1_RNA			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S251P(2)		endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						AGGAGGCGAGACAGGGGTTGT	0.627																																							uc002obc.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(751-753)TCT>CCT		transmembrane protein 149 precursor							46.0	49.0	48.0					19																	36230498		2203	4300	6503	SO:0001583	missense	79713					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:36230498A>G	AK026226	CCDS12472.1	19q13.12	2012-10-02	2011-04-04	2011-04-04	ENSG00000126246	ENSG00000126246			23620	protein-coding gene	gene with protein product		614143	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 4"", ""transmembrane protein 149"""	U2AF1L4, TMEM149		21454693	Standard	NM_024660		Approved	FLJ22573	uc002obd.4	Q9H665		ENST00000592537.1:c.751T>C	19.37:g.36230498A>G	ENSP00000466181:p.Ser251Pro					TMEM149_uc002obb.2_Missense_Mutation_p.S63P|TMEM149_uc002obd.3_Missense_Mutation_p.S251P|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Missense_Mutation_p.S331P	p.S251P	NM_024660	NP_078936	Q9H665	IGFR1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		5	852	-	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		251			Cytoplasmic (Potential).		Q8N5X0	Missense_Mutation	SNP	ENST00000592537.1	37	c.751T>C	CCDS12472.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.041875	0.75732	.	.	ENSG00000126246	ENST00000246532;ENST00000344990	T	0.54479	0.57	4.96	3.95	0.45737	DEATH-like (1);	0.172836	0.40818	N	0.001004	T	0.44456	0.1294	N	0.24115	0.695	0.39406	D	0.966661	P;B	0.50943	0.94;0.172	P;B	0.50082	0.63;0.078	T	0.46005	-0.9222	10	0.66056	D	0.02	-22.3376	7.5107	0.27573	0.9001:0.0:0.0999:0.0	.	251;63	Q9H665;Q9H665-2	IGFR1_HUMAN;.	P	251;63	ENSP00000246532:S251P	ENSP00000246532:S251P	S	-	1	0	IGFLR1	40922338	0.924000	0.31332	0.991000	0.47740	0.864000	0.49448	1.176000	0.31957	0.847000	0.35167	0.374000	0.22700	TCT		0.627	IGFLR1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459077.1	NM_024660		37	90	0	0	0	0.006999	0	37	90				
ZNF570	148268	broad.mit.edu	37	19	37976118	37976118	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:37976118A>T	ENST00000330173.1	+	5	2123	c.1594A>T	c.(1594-1596)Aat>Tat	p.N532Y	ZNF570_ENST00000586475.1_Missense_Mutation_p.N588Y|ZNF570_ENST00000388801.3_Missense_Mutation_p.N329Y|CTD-2086O20.3_ENST00000591976.1_lincRNA	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	532					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.N532Y(2)		endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			caacccagtcaatcaccaagt	0.408																																							uc002ogk.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1594-1596)AAT>TAT		zinc finger protein 570							77.0	78.0	78.0					19																	37976118		2203	4300	6503	SO:0001583	missense	148268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37976118A>T	AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"""Zinc fingers, C2H2-type"", ""-"""	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.1594A>T	19.37:g.37976118A>T	ENSP00000331540:p.Asn532Tyr					ZNF570_uc010efl.1_Missense_Mutation_p.N588Y|ZNF570_uc010xtr.1_Missense_Mutation_p.N329Y	p.N532Y	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	2123	+			532					A1L472|B4DMP1	Missense_Mutation	SNP	ENST00000330173.1	37	c.1594A>T	CCDS12504.1	.	.	.	.	.	.	.	.	.	.	A	13.24	2.177993	0.38413	.	.	ENSG00000171827	ENST00000330173;ENST00000388801	T;T	0.05447	3.61;3.44	4.55	4.55	0.56014	.	1.393500	0.05026	N	0.473793	T	0.09686	0.0238	L	0.27053	0.805	0.27217	N	0.959759	P;B	0.44090	0.826;0.38	P;B	0.45037	0.467;0.265	T	0.38757	-0.9646	10	0.87932	D	0	.	12.1454	0.54020	1.0:0.0:0.0:0.0	.	329;532	B4DMP1;Q96NI8	.;ZN570_HUMAN	Y	532;329	ENSP00000331540:N532Y;ENSP00000373453:N329Y	ENSP00000331540:N532Y	N	+	1	0	ZNF570	42667958	0.013000	0.17824	0.976000	0.42696	0.937000	0.57800	2.447000	0.44917	2.024000	0.59613	0.460000	0.39030	AAT		0.408	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109600.1	NM_144694		11	32	0	0	0	0.000978	0	11	32				
RYR1	6261	broad.mit.edu	37	19	38976573	38976573	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:38976573C>A	ENST00000359596.3	+	34	5278	c.5278C>A	c.(5278-5280)Cat>Aat	p.H1760N	RYR1_ENST00000360985.3_Missense_Mutation_p.H1760N|RYR1_ENST00000355481.4_Missense_Mutation_p.H1760N			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1760	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.H1760N(2)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCACCCCCGGCATGGCCTGCC	0.642																																							uc002oit.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(5278-5280)CAT>AAT		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						43.0	43.0	43.0					19																	38976573		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38976573C>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5278C>A	19.37:g.38976573C>A	ENSP00000352608:p.His1760Asn					RYR1_uc002oiu.2_Missense_Mutation_p.H1760N	p.H1760N	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5408	+	all_cancers(60;7.91e-06)		1760			Cytoplasmic.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5278C>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	6.875	0.530925	0.13127	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.74002	-0.8;-0.8;-0.8	3.77	1.58	0.23477	.	0.150835	0.42420	U	0.000704	T	0.75155	0.3811	L	0.59912	1.85	0.36009	D	0.837944	D;P	0.57899	0.981;0.86	P;P	0.53490	0.727;0.474	T	0.77343	-0.2623	10	0.54805	T	0.06	.	8.5888	0.33674	0.0:0.8009:0.0:0.1991	.	1760;1760	P21817-2;P21817	.;RYR1_HUMAN	N	1760	ENSP00000352608:H1760N;ENSP00000347667:H1760N;ENSP00000354254:H1760N	ENSP00000347667:H1760N	H	+	1	0	RYR1	43668413	0.695000	0.27747	0.995000	0.50966	0.111000	0.19643	0.361000	0.20267	0.253000	0.21552	0.585000	0.79938	CAT		0.642	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			14	64	1	0	0.00244969	0.00245	0.00254329	14	64				
FCGBP	8857	broad.mit.edu	37	19	40411754	40411754	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:40411754C>G	ENST00000221347.6	-	7	3881	c.3874G>C	c.(3874-3876)Gcc>Ccc	p.A1292P		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1292	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.A1292P(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)			TGCAGGACGGCAAACCGATGC	0.637																																							uc002omp.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(3874-3876)GCC>CCC		Fc fragment of IgG binding protein precursor							51.0	50.0	51.0					19																	40411754		2202	4276	6478	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40411754C>G	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.3874G>C	19.37:g.40411754C>G	ENSP00000221347:p.Ala1292Pro						p.A1292P	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		7	3882	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		1292			VWFD 3.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.3874G>C	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393628	0.25205	.	.	ENSG00000090920	ENST00000221347	T	0.60040	0.22	4.54	-2.14	0.07123	von Willebrand factor, type D domain (3);	0.888041	0.09493	N	0.794685	T	0.60366	0.2263	M	0.71206	2.165	0.09310	N	1	D	0.54397	0.966	P	0.52109	0.69	T	0.53535	-0.8425	10	0.41790	T	0.15	.	5.9876	0.19442	0.0:0.2988:0.139:0.5622	.	1292	Q9Y6R7	FCGBP_HUMAN	P	1292	ENSP00000221347:A1292P	ENSP00000221347:A1292P	A	-	1	0	FCGBP	45103594	0.000000	0.05858	0.022000	0.16811	0.626000	0.37791	-1.639000	0.02011	-0.567000	0.06046	0.436000	0.28706	GCC		0.637	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		38	77	0	0	0	0.00361	0	38	77				
LIG1	3978	broad.mit.edu	37	19	48653099	48653099	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:48653099C>A	ENST00000263274.7	-	9	1117		c.e9-1		LIG1_ENST00000427526.2_Splice_Site|LIG1_ENST00000599165.1_Splice_Site|CTC-453G23.4_ENST00000594589.1_RNA|LIG1_ENST00000536218.1_Splice_Site	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent						anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)	p.?(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TTCCGGGGGGCTAGGAATGAA	0.582								Nucleotide excision repair (NER)																															uc002pia.1		NA																	1	Unknown(1)		lung(1)	large_intestine(2)|lung(1)	3						c.e9-1	NER	DNA ligase I	Bleomycin(DB00290)						40.0	38.0	38.0					19																	48653099		2203	4300	6503	SO:0001630	splice_region_variant	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48653099C>A		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.698-1G>T	19.37:g.48653099C>A						LIG1_uc010xze.1_Splice_Site|LIG1_uc002phz.1_Splice_Site|LIG1_uc002pib.1_Splice_Site|LIG1_uc010xzf.1_Splice_Site_p.T165_splice|LIG1_uc010xzg.1_Splice_Site_p.T202_splice|LIG1_uc010xzh.1_Splice_Site	p.T233_splice	NM_000234	NP_000225	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	9	818	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)						B2RAI8|Q2TB12|Q32P23	Splice_Site	SNP	ENST00000263274.7	37	c.698_splice	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	C	7.251	0.603158	0.13939	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000536218;ENST00000542460	.	.	.	3.89	3.89	0.44902	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6633	0.51361	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LIG1	53344911	0.999000	0.42202	0.727000	0.30756	0.046000	0.14306	3.347000	0.52200	2.468000	0.83385	0.462000	0.41574	.		0.582	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234	Intron	3	24	1	0	0.004672	0.004672	0.00481247	3	24				
TMEM143	55260	broad.mit.edu	37	19	48845927	48845927	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:48845927C>T	ENST00000293261.3	-	6	1151	c.835G>A	c.(835-837)Gcc>Acc	p.A279T	TMEM143_ENST00000541566.1_Missense_Mutation_p.A169T|TMEM143_ENST00000435956.3_Missense_Mutation_p.A244T|TMEM143_ENST00000436660.2_Missense_Mutation_p.A214T|TMEM143_ENST00000377431.2_Missense_Mutation_p.A179T	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	279					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.A279T(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		TTGAGCAGGGCGCGCTGCAGG	0.642																																							uc002pix.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(835-837)GCC>ACC		transmembrane protein 143							63.0	53.0	56.0					19																	48845927		2203	4300	6503	SO:0001583	missense	55260					integral to membrane|mitochondrion		g.chr19:48845927C>T	AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.835G>A	19.37:g.48845927C>T	ENSP00000293261:p.Ala279Thr					TMEM143_uc002piw.1_Intron|TMEM143_uc002piy.1_Missense_Mutation_p.A244T|TMEM143_uc010xzn.1_Missense_Mutation_p.A214T|TMEM143_uc010elw.1_Missense_Mutation_p.A179T|TMEM143_uc010xzo.1_Missense_Mutation_p.A69T	p.A279T	NM_018273	NP_060743	Q96AN5	TM143_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)	6	844	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)	279					A8K656|Q6UXY4|Q9NV49	Missense_Mutation	SNP	ENST00000293261.3	37	c.835G>A	CCDS12716.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265832	0.59540	.	.	ENSG00000161558	ENST00000293261;ENST00000377431;ENST00000435956;ENST00000436660;ENST00000541566	T;T;T	0.47177	0.85;0.85;0.85	4.63	2.44	0.29823	.	0.541730	0.17293	N	0.179580	T	0.25680	0.0625	L	0.27053	0.805	0.27150	N	0.961438	B;P;P;P	0.42010	0.31;0.47;0.768;0.465	B;B;B;B	0.31245	0.034;0.126;0.12;0.089	T	0.09465	-1.0673	10	0.38643	T	0.18	-5.5896	5.9279	0.19122	0.0:0.6663:0.1589:0.1748	.	214;179;244;279	B4DPF8;Q96AN5-2;B4DMT0;Q96AN5	.;.;.;TM143_HUMAN	T	279;179;244;214;169	ENSP00000293261:A279T;ENSP00000397038:A244T;ENSP00000444275:A169T	ENSP00000293261:A279T	A	-	1	0	TMEM143	53537739	0.758000	0.28405	0.770000	0.31555	0.994000	0.84299	1.206000	0.32321	0.478000	0.27488	0.456000	0.33151	GCC		0.642	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1	NM_018273		15	38	0	0	0	0.003163	0	15	38				
GPR32	2854	broad.mit.edu	37	19	51274539	51274539	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:51274539C>T	ENST00000270590.4	+	1	819	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	228					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.P228S(2)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTTCCTGGGGCCCTTAGCAAT	0.597																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	Esophageal Squamous(113;152 1581 5732 15840 44398)	uc010ycf.1		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(682-684)CCC>TCC		G protein-coupled receptor 32							48.0	50.0	49.0					19																	51274539		2203	4300	6503	SO:0001583	missense	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274539C>T	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.682C>T	19.37:g.51274539C>T	ENSP00000270590:p.Pro228Ser						p.P228S	NM_001506	NP_001497	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	682	+		all_neural(266;0.131)	228			Helical; Name=5; (Potential).		Q502U7|Q6NWS5	Missense_Mutation	SNP	ENST00000270590.4	37	c.682C>T	CCDS12801.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.191989	0.38707	.	.	ENSG00000142511	ENST00000270590	T	0.55930	0.49	2.56	2.56	0.30785	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.75309	0.3832	M	0.91459	3.21	0.42298	D	0.992161	D	0.89917	1.0	D	0.97110	1.0	T	0.80659	-0.1284	9	0.87932	D	0	.	11.228	0.48895	0.0:1.0:0.0:0.0	.	228	O75388	GPR32_HUMAN	S	228	ENSP00000270590:P228S	ENSP00000270590:P228S	P	+	1	0	GPR32	55966351	0.988000	0.35896	0.004000	0.12327	0.080000	0.17528	4.064000	0.57506	1.356000	0.45884	0.313000	0.20887	CCC		0.597	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			20	41	0	0	0	0.008871	0	20	41				
KLK15	55554	broad.mit.edu	37	19	51330233	51330233	+	Missense_Mutation	SNP	G	G	T	rs7247190		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:51330233G>T	ENST00000598239.1	-	3	412	c.382C>A	c.(382-384)Ccc>Acc	p.P128T	KLK15_ENST00000416184.1_Intron|KLK15_ENST00000301421.2_Missense_Mutation_p.P128T|KLK15_ENST00000326856.4_Missense_Mutation_p.P127T|KLK15_ENST00000596931.1_Missense_Mutation_p.P127T	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	128	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.P128T(2)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CAACGCGTGGGTAGCACCGCG	0.711																																					Pancreas(140;10 2513 7143 9246)	Pancreas(140;10 2513 7143 9246)	uc002ptl.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)|breast(1)	2						c.(382-384)CCC>ACC		kallikrein-related peptidase 15 isoform 4							34.0	36.0	35.0					19																	51330233		2201	4298	6499	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330233G>T	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.382C>A	19.37:g.51330233G>T	ENSP00000469315:p.Pro128Thr					KLK15_uc002ptm.2_Intron|KLK15_uc002ptn.2_Missense_Mutation_p.P128T|KLK15_uc002pto.2_Missense_Mutation_p.P127T|KLK15_uc010ych.1_Intron|KLK15_uc010yci.1_Missense_Mutation_p.P127T|KLK15_uc010eod.2_RNA	p.P128T	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	3	413	-		all_neural(266;0.057)	128			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.382C>A	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	g	19.99	3.929208	0.73327	.	.	ENSG00000174562	ENST00000326856;ENST00000301421;ENST00000544946	D	0.95103	-3.61	4.5	4.5	0.54988	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.46145	D	0.000308	D	0.97353	0.9134	M	0.89353	3.025	0.48135	D	0.999596	D;P;P	0.89917	1.0;0.767;0.793	D;P;P	0.71414	0.973;0.549;0.53	D	0.97799	1.0243	10	0.66056	D	0.02	.	15.0875	0.72165	0.0:0.0:1.0:0.0	.	128;127;128	Q6UBM2;Q6ISI0;Q9H2R5	.;.;KLK15_HUMAN	T	128	ENSP00000301421:P128T	ENSP00000301421:P128T	P	-	1	0	KLK15	56022045	1.000000	0.71417	0.127000	0.21898	0.021000	0.10359	3.573000	0.53856	2.514000	0.84764	0.555000	0.69702	CCC		0.711	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		27	52	1	0	6.12954e-19	0.004656	9.79731e-19	27	52				
NLRP12	91662	broad.mit.edu	37	19	54304586	54304586	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:54304586T>C	ENST00000324134.6	-	7	2819	c.2651A>G	c.(2650-2652)cAg>cGg	p.Q884R	NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000391775.3_Missense_Mutation_p.Q884R|NLRP12_ENST00000535162.1_Missense_Mutation_p.Q884R|NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000391773.1_Missense_Mutation_p.Q885R|NLRP12_ENST00000345770.5_Missense_Mutation_p.Q885R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	884					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.Q884R(2)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCTCAGGCTCTGGTTCACACT	0.592																																							uc002qch.3		NA																	2	Substitution - Missense(2)	p.Q884H(1)	lung(2)	ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(2650-2652)CAG>CGG		NLR family, pyrin domain containing 12 isoform							66.0	56.0	59.0					19																	54304586		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54304586T>C	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2651A>G	19.37:g.54304586T>C	ENSP00000319377:p.Gln884Arg					NLRP12_uc010eqw.2_Missense_Mutation_p.Q167R|NLRP12_uc002qci.3_Missense_Mutation_p.Q884R|NLRP12_uc002qcj.3_Missense_Mutation_p.Q885R|NLRP12_uc002qck.3_Intron|NLRP12_uc010eqx.2_Intron	p.Q884R	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	7	2871	-	Ovarian(34;0.19)		884					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.2651A>G	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	T	10.51	1.370846	0.24771	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000358661;ENST00000391775;ENST00000391773;ENST00000345770	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.45	-6.24	0.02046	.	2.204520	0.02448	N	0.085234	T	0.23572	0.0570	N	0.17631	0.505	0.09310	N	1	B;B;B;B	0.19935	0.016;0.04;0.002;0.011	B;B;B;B	0.24974	0.03;0.057;0.006;0.022	T	0.10683	-1.0619	10	0.18276	T	0.48	.	4.226	0.10580	0.1016:0.3557:0.3656:0.177	.	167;884;884;884	P59046-5;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	R	884;884;167;884;885;885	ENSP00000319377:Q884R;ENSP00000438030:Q884R;ENSP00000375655:Q884R;ENSP00000375653:Q885R	ENSP00000319377:Q884R	Q	-	2	0	NLRP12	58996398	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.337000	0.02657	-1.341000	0.02225	-0.473000	0.04963	CAG		0.592	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		26	64	0	0	0	0.008361	0	26	64				
NLRP4	147945	broad.mit.edu	37	19	56369712	56369712	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:56369712C>A	ENST00000301295.6	+	3	1375	c.953C>A	c.(952-954)cCg>cAg	p.P318Q	NLRP4_ENST00000346986.5_Missense_Mutation_p.P318Q|NLRP4_ENST00000587891.1_Missense_Mutation_p.P243Q	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	318	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.P318Q(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTCAAAGACCCGAAAAGAGCC	0.483																																							uc002qmd.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(952-954)CCG>CAG		NLR family, pyrin domain containing 4							59.0	65.0	63.0					19																	56369712		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56369712C>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.953C>A	19.37:g.56369712C>A	ENSP00000301295:p.Pro318Gln					NLRP4_uc002qmf.2_Missense_Mutation_p.P243Q|NLRP4_uc010etf.2_Missense_Mutation_p.P149Q	p.P318Q	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1375	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	318			NACHT.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.953C>A	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	9.441	1.088122	0.20390	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.80566	-1.39;-1.39	4.1	-6.65	0.01795	.	.	.	.	.	T	0.50956	0.1646	N	0.03050	-0.425	0.09310	N	1	P;P;P	0.43169	0.653;0.762;0.8	B;B;B	0.43623	0.425;0.33;0.384	T	0.53056	-0.8492	9	0.28530	T	0.3	.	0.7441	0.00979	0.4042:0.2317:0.1449:0.2193	.	318;243;318	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	Q	318	ENSP00000301295:P318Q;ENSP00000344787:P318Q	ENSP00000301295:P318Q	P	+	2	0	NLRP4	61061524	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.249000	0.00540	-1.077000	0.03121	-0.910000	0.02820	CCG		0.483	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		37	58	1	0	1.04352e-10	0.003755	1.34142e-10	37	58				
ZIM3	114026	broad.mit.edu	37	19	57646630	57646630	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:57646630C>T	ENST00000269834.1	-	5	1460	c.1075G>A	c.(1075-1077)Ggg>Agg	p.G359R	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	359					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.G359R(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCTCTCTTCCCAGTGTGAATT	0.393																																							uc002qnz.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)|skin(1)	2						c.(1075-1077)GGG>AGG		zinc finger, imprinted 3							158.0	155.0	156.0					19																	57646630		2203	4300	6503	SO:0001583	missense	114026				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57646630C>T	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.1075G>A	19.37:g.57646630C>T	ENSP00000269834:p.Gly359Arg						p.G359R	NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1461	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	359					Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	c.1075G>A	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.923070	0.33908	.	.	ENSG00000141946	ENST00000269834	T	0.01629	4.72	2.71	-1.73	0.08081	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06325	0.0163	M	0.71581	2.175	0.25481	N	0.987738	D	0.89917	1.0	D	0.97110	1.0	T	0.23368	-1.0190	9	0.87932	D	0	.	3.4939	0.07648	0.1884:0.5374:0.0:0.2741	.	359	Q96PE6	ZIM3_HUMAN	R	359	ENSP00000269834:G359R	ENSP00000269834:G359R	G	-	1	0	ZIM3	62338442	0.000000	0.05858	0.001000	0.08648	0.278000	0.26855	1.086000	0.30853	-0.388000	0.07797	0.313000	0.20887	GGG		0.393	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			65	129	0	0	0	0.00361	0	65	129				
TRAPPC12	51112	broad.mit.edu	37	2	3428348	3428348	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:3428348C>T	ENST00000324266.5	+	5	1526	c.1331C>T	c.(1330-1332)gCt>gTt	p.A444V	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.A444V	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	444					vesicle-mediated transport (GO:0016192)			p.A444V(2)									TTCCAGAATGCTGAGATGGAA	0.448																																							uc002qxm.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)|pancreas(1)	4						c.(1330-1332)GCT>GTT		tetratricopeptide repeat domain 15							180.0	177.0	178.0					2																	3428348		2203	4300	6503	SO:0001583	missense	51112						binding	g.chr2:3428348C>T	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1331C>T	2.37:g.3428348C>T	ENSP00000324318:p.Ala444Val					TTC15_uc002qxn.1_Missense_Mutation_p.A444V|TTC15_uc010ewm.1_Missense_Mutation_p.A444V	p.A444V	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)	5	1537	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)	444					B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	c.1331C>T	CCDS1652.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316204	0.81469	.	.	ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266	T;T	0.51574	0.7;0.7	5.6	5.6	0.85130	.	0.111099	0.64402	D	0.000011	T	0.68851	0.3046	M	0.76433	2.335	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.68483	0.958;0.917	T	0.67833	-0.5568	10	0.42905	T	0.14	.	18.6072	0.91271	0.0:1.0:0.0:0.0	.	427;444	E7ENL7;Q8WVT3	.;TPC12_HUMAN	V	444;427;444	ENSP00000371544:A444V;ENSP00000324318:A444V	ENSP00000303612:A427V	A	+	2	0	TTC15	3407355	1.000000	0.71417	0.942000	0.38095	0.926000	0.56050	7.395000	0.79876	2.637000	0.89404	0.563000	0.77884	GCT		0.448	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		87	178	0	0	0	0.00361	0	87	178				
NBAS	51594	broad.mit.edu	37	2	15470780	15470780	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:15470780T>A	ENST00000281513.5	-	36	4314	c.4289A>T	c.(4288-4290)cAg>cTg	p.Q1430L	NBAS_ENST00000441750.1_Missense_Mutation_p.Q1310L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1430					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.Q1430L(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACTGACGGCCTGCAGCACCGC	0.493																																							uc002rcc.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|liver(1)|skin(1)	4						c.(4288-4290)CAG>CTG		neuroblastoma-amplified protein							156.0	142.0	147.0					2																	15470780		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15470780T>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.4289A>T	2.37:g.15470780T>A	ENSP00000281513:p.Gln1430Leu					NBAS_uc010exl.1_Missense_Mutation_p.Q502L|NBAS_uc002rcd.1_RNA	p.Q1430L	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			36	4315	-			1430					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.4289A>T	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.75|16.75	3.209376|3.209376	0.58343|0.58343	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513|ENST00000442506	T;T|.	0.10005|.	2.92;3.09|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.154473|.	0.56097|.	D|.	0.000023|.	T|T	0.65333|0.65333	0.2681|0.2681	L|L	0.56769|0.56769	1.78|1.78	0.34134|0.34134	D|D	0.66562|0.66562	P;P|.	0.52170|.	0.951;0.488|.	B;B|.	0.43867|.	0.434;0.05|.	T|T	0.74064|0.74064	-0.3785|-0.3785	10|5	0.87932|.	D|.	0|.	.|.	14.794|14.794	0.69865|0.69865	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1310;1430|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	L|W	1310;1430|478	ENSP00000413201:Q1310L;ENSP00000281513:Q1430L|.	ENSP00000281513:Q1430L|.	Q|R	-|-	2|1	0|2	NBAS|NBAS	15388231|15388231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.698000|0.698000	0.40448|0.40448	5.317000|5.317000	0.65822|0.65822	2.119000|2.119000	0.64992|0.64992	0.528000|0.528000	0.53228|0.53228	CAG|AGG		0.493	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		25	62	0	0	0	0.004656	0	25	62				
SUPT7L	9913	broad.mit.edu	37	2	27884203	27884203	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:27884203C>A	ENST00000337768.5	-	3	636	c.67G>T	c.(67-69)Gat>Tat	p.D23Y	SUPT7L_ENST00000464789.2_Missense_Mutation_p.D21Y|SLC4A1AP_ENST00000326019.6_5'Flank|SUPT7L_ENST00000404798.2_Intron|SUPT7L_ENST00000406540.1_Missense_Mutation_p.D21Y|SUPT7L_ENST00000405491.1_Missense_Mutation_p.D21Y	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	23					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|maintenance of protein location in nucleus (GO:0051457)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.D23Y(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					GGGAGCAAATCGAAGGAACTT	0.507																																							uc002rlh.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(67-69)GAT>TAT		SPTF-associated factor 65 gamma							103.0	108.0	107.0					2																	27884203		1921	4124	6045	SO:0001583	missense	9913				histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:27884203C>A	AF197954	CCDS42667.1, CCDS62885.1, CCDS62886.1	2p23.3	2008-02-05			ENSG00000119760	ENSG00000119760			30632	protein-coding gene	gene with protein product		612762				9872452, 11564863	Standard	NM_001282732		Approved	STAF65, gamma, KIAA0764, SPT7L	uc002rli.1	O94864	OTTHUMG00000151947	ENST00000337768.5:c.67G>T	2.37:g.27884203C>A	ENSP00000336750:p.Asp23Tyr					SUPT7L_uc002rli.1_Missense_Mutation_p.D23Y|SUPT7L_uc010ymf.1_Intron|SUPT7L_uc002rlj.1_Missense_Mutation_p.D21Y|SUPT7L_uc010ezh.1_Missense_Mutation_p.D21Y|SLC4A1AP_uc002rlk.3_5'Flank	p.D23Y	NM_014860	NP_055675	O94864	ST65G_HUMAN			3	410	-	Acute lymphoblastic leukemia(172;0.155)		23					B4E3W3|Q6IB21|Q9H2T6	Missense_Mutation	SNP	ENST00000337768.5	37	c.67G>T	CCDS42667.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617069	0.87359	.	.	ENSG00000119760	ENST00000337768;ENST00000406540;ENST00000405491;ENST00000464789	.	.	.	4.71	4.71	0.59529	.	0.105194	0.64402	D	0.000006	T	0.65729	0.2719	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.67900	0.954;0.9	T	0.69639	-0.5091	9	0.62326	D	0.03	-25.3138	17.8556	0.88761	0.0:1.0:0.0:0.0	.	21;23	O94864-2;O94864	.;ST65G_HUMAN	Y	23;21;21;21	.	ENSP00000336750:D23Y	D	-	1	0	SUPT7L	27737707	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.563000	0.82314	2.416000	0.81992	0.655000	0.94253	GAT		0.507	SUPT7L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324568.1	NM_014860		28	58	1	0	3.57733e-08	0.009535	4.1824e-08	28	58				
CAPN13	92291	broad.mit.edu	37	2	30955326	30955326	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:30955326C>A	ENST00000295055.8	-	20	2081	c.1905G>T	c.(1903-1905)ctG>ctT	p.L635L	CAPN13_ENST00000534090.2_Silent_p.L635L	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	635					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.L635L(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CAAGCCGCATCAGGAAGCAGA	0.607																																							uc002rnn.2		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|ovary(1)	2						c.(1903-1905)CTG>CTT		calpain 13							29.0	33.0	32.0					2																	30955326		2110	4224	6334	SO:0001819	synonymous_variant	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30955326C>A		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1905G>T	2.37:g.30955326C>A						CAPN13_uc002rnm.2_RNA	p.L635L	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN			19	2081	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		635					Q17RF0|Q580X1|Q8TE80	Silent	SNP	ENST00000295055.8	37	c.1905G>T	CCDS46252.1																																																																																				0.607	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		12	17	1	0	2.61681e-11	0.00245	3.43103e-11	12	17				
EPAS1	2034	broad.mit.edu	37	2	46611777	46611777	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:46611777G>T	ENST00000263734.3	+	16	3101	c.2591G>T	c.(2590-2592)aGa>aTa	p.R864I		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	864	CTAD.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)	p.R864I(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GACCTCCTCAGAGCCCTGGAC	0.607																																							uc002ruv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(2590-2592)AGA>ATA		endothelial PAS domain protein 1							36.0	35.0	35.0					2																	46611777		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46611777G>T	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.2591G>T	2.37:g.46611777G>T	ENSP00000263734:p.Arg864Ile					EPAS1_uc002ruw.2_Missense_Mutation_p.R330I	p.R864I	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		16	3079	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	864			CTAD.		Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.2591G>T	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293665	0.80914	.	.	ENSG00000116016	ENST00000263734	T	0.50813	0.73	4.99	4.1	0.47936	HIF-1 alpha, transactivation domain, C-terminal (1);	0.698745	0.15249	N	0.272472	T	0.67590	0.2909	M	0.72118	2.19	0.80722	D	1	D	0.67145	0.996	D	0.69307	0.963	T	0.70730	-0.4792	10	0.87932	D	0	.	15.5926	0.76550	0.0:0.1384:0.8616:0.0	.	864	Q99814	EPAS1_HUMAN	I	864	ENSP00000263734:R864I	ENSP00000263734:R864I	R	+	2	0	EPAS1	46465281	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.801000	0.85960	1.179000	0.42884	0.650000	0.86243	AGA		0.607	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		10	93	1	0	7.48243e-07	0.006214	8.41106e-07	10	93				
GPR75-ASB3	100302652	broad.mit.edu	37	2	53943863	53943863	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:53943863G>C	ENST00000263634.3	-	6	756	c.622C>G	c.(622-624)Caa>Gaa	p.Q208E	ASB3_ENST00000498475.2_5'UTR|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.Q135E|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.Q135E|GPR75-ASB3_ENST00000482829.1_5'UTR|ASB3_ENST00000406625.2_Missense_Mutation_p.Q243E|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.Q246E	NM_016115.4	NP_057199.1			GPR75-ASB3 readthrough									p.Q208E(1)									TCCAAGGCTTGACAATTGACA	0.378																																							uc002rxg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(622-624)CAA>GAA		ankyrin repeat and SOCS box-containing protein 3							81.0	76.0	78.0					2																	53943863		2203	4300	6503	SO:0001583	missense	51130				intracellular signal transduction			g.chr2:53943863G>C		CCDS54361.1	2p16	2013-01-23			ENSG00000115239	ENSG00000115239			40043	other	readthrough							Standard	NM_001164165		Approved				OTTHUMG00000129279	ENST00000263634.3:c.622C>G	2.37:g.53943863G>C	ENSP00000263634:p.Gln208Glu					ASB3_uc002rxh.1_Missense_Mutation_p.Q135E|ASB3_uc002rxi.3_Missense_Mutation_p.Q246E|ASB3_uc010yoo.1_Missense_Mutation_p.Q125E	p.Q208E	NM_016115	NP_057199	Q9Y575	ASB3_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		6	757	-			208						Missense_Mutation	SNP	ENST00000263634.3	37	c.622C>G	CCDS1846.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.01|19.01	3.744682|3.744682	0.69418|0.69418	.|.	.|.	ENSG00000115239|ENSG00000115239	ENST00000263634;ENST00000406625;ENST00000406687;ENST00000394717;ENST00000352846;ENST00000446049|ENST00000406053	T;T;T;T;T|.	0.66099|.	-0.19;-0.19;-0.19;-0.19;-0.19|.	5.26|5.26	5.26|5.26	0.73747|0.73747	Ankyrin repeat-containing domain (4);|.	0.052162|.	0.85682|.	D|.	0.000000|.	T|.	0.70474|.	0.3228|.	L|L	0.49256|0.49256	1.55|1.55	.|.	.|.	.|.	D;D;B|.	0.63046|.	0.992;0.96;0.362|.	P;P;B|.	0.60541|.	0.876;0.699;0.173|.	T|.	0.66516|.	-0.5904|.	9|.	0.16420|.	T|.	0.52|.	.|.	19.2307|19.2307	0.93839|0.93839	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	125;243;208|.	B4DZX6;Q2TAI4;Q9Y575|.	.;.;ASB3_HUMAN|.	E|X	208;243;135;135;246;125|200	ENSP00000263634:Q208E;ENSP00000385085:Q243E;ENSP00000384728:Q135E;ENSP00000378206:Q135E;ENSP00000313756:Q246E|.	ENSP00000263634:Q208E|.	Q|S	-|-	1|2	0|0	ASB3|ASB3	53797367|53797367	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.132000|7.132000	0.77251|0.77251	2.625000|2.625000	0.88918|0.88918	0.591000|0.591000	0.81541|0.81541	CAA|TCA		0.378	GPR75-ASB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251402.3			8	234	0	0	0	0.004482	0	8	234				
CCDC88A	55704	broad.mit.edu	37	2	55549736	55549736	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:55549736C>A	ENST00000436346.1	-	18	3931	c.3090G>T	c.(3088-3090)tgG>tgT	p.W1030C	AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.W1030C|CCDC88A_ENST00000413716.2_Missense_Mutation_p.W1029C|CCDC88A_ENST00000336838.6_Missense_Mutation_p.W1029C	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1030					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.W1029C(2)|p.W1030C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTTCTCGCTCCCATTTGTTGT	0.328																																							uc002ryv.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|skin(2)	4						c.(3085-3087)TGG>TGT		coiled-coil domain containing 88A isoform 1							108.0	107.0	108.0					2																	55549736		2203	4300	6503	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55549736C>A	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.3090G>T	2.37:g.55549736C>A	ENSP00000410608:p.Trp1030Cys					CCDC88A_uc010yoz.1_Missense_Mutation_p.W1030C|CCDC88A_uc010ypa.1_Missense_Mutation_p.W1029C|CCDC88A_uc002ryu.2_Missense_Mutation_p.W312C|CCDC88A_uc002rys.2_Missense_Mutation_p.W15C|CCDC88A_uc002ryw.2_Missense_Mutation_p.W313C|CCDC88A_uc010fby.1_Intron	p.W1029C	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			18	3929	-			1030			Potential.		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.3087G>T		.	.	.	.	.	.	.	.	.	.	C	22.6	4.313133	0.81358	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000412148;ENST00000413716;ENST00000426576	T;T;T;T;T;T	0.48201	2.37;2.64;2.58;0.82;2.4;1.32	5.03	5.03	0.67393	.	0.000000	0.45606	U	0.000355	T	0.67896	0.2942	M	0.69358	2.11	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.984;0.998;0.971;0.999;0.989	T	0.67055	-0.5767	10	0.41790	T	0.15	-4.5167	18.7195	0.91688	0.0:1.0:0.0:0.0	.	1029;1030;1030;1029;1029	B7ZM78;Q3V6T2-2;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.;.;GRDN_HUMAN;.;.	C	1029;1030;1030;75;1029;205	ENSP00000338728:W1029C;ENSP00000263630:W1030C;ENSP00000410608:W1030C;ENSP00000390012:W75C;ENSP00000404431:W1029C;ENSP00000405080:W205C	ENSP00000263630:W1030C	W	-	3	0	CCDC88A	55403240	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.708000	0.84633	2.498000	0.84270	0.655000	0.94253	TGG		0.328	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		93	118	1	0	1.7666e-45	0.00361	3.56031e-45	93	118				
BCL11A	53335	broad.mit.edu	37	2	60773198	60773198	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:60773198G>T	ENST00000335712.6	-	2	520	c.293C>A	c.(292-294)cCc>cAc	p.P98H	BCL11A_ENST00000538214.1_Missense_Mutation_p.P98H|BCL11A_ENST00000358510.4_Missense_Mutation_p.P98H|BCL11A_ENST00000359629.5_Missense_Mutation_p.P98H|BCL11A_ENST00000537768.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.P98H	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	98	Required for nuclear body formation and for SUMO1 recruitment. {ECO:0000250}.				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.P98H(6)		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)			AACCTCCACGGGATTGGATGC	0.473			T	IGH@	B-CLL																																		uc002sae.1		NA		Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		6	Substitution - Missense(6)		lung(6)	central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13						c.(292-294)CCC>CAC		B-cell CLL/lymphoma 11A isoform 1							172.0	163.0	166.0					2																	60773198		2203	4300	6503	SO:0001583	missense	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.chr2:60773198G>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.293C>A	2.37:g.60773198G>T	ENSP00000338774:p.Pro98His					BCL11A_uc002sab.2_Missense_Mutation_p.P98H|BCL11A_uc002sac.2_Missense_Mutation_p.P98H|BCL11A_uc010ypi.1_5'UTR|BCL11A_uc010ypj.1_Missense_Mutation_p.P98H|BCL11A_uc002saf.1_Missense_Mutation_p.P98H|BCL11A_uc010fcg.2_Missense_Mutation_p.P98H	p.P98H	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)		2	521	-			98			Required for nuclear body formation and for SUMO1 recruitment (By similarity).		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.293C>A	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.149845	0.57151	.	.	ENSG00000119866	ENST00000356842;ENST00000359629;ENST00000378117;ENST00000538214;ENST00000335712;ENST00000358510	T;T;T;T	0.15139	2.45;2.81;2.54;2.78	5.67	5.67	0.87782	.	0.304644	0.31335	N	0.007833	T	0.45054	0.1323	M	0.71036	2.16	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.996;0.997;0.998;1.0;0.999;1.0	T	0.32561	-0.9902	10	0.72032	D	0.01	-1.3221	19.7579	0.96301	0.0:0.0:1.0:0.0	.	98;98;98;98;98;98	F5H2Y4;Q66LN6;Q9H165-6;Q9H165;Q9H165-3;D9YZV9	.;.;.;BC11A_HUMAN;.;.	H	98;98;134;98;98;98	ENSP00000349300:P98H;ENSP00000438303:P98H;ENSP00000338774:P98H;ENSP00000351307:P98H	ENSP00000338774:P98H	P	-	2	0	BCL11A	60626702	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.635000	0.98437	2.677000	0.91161	0.557000	0.71058	CCC		0.473	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		41	125	1	0	3.09479e-21	0.006999	5.1558e-21	41	125				
DYSF	8291	broad.mit.edu	37	2	71827833	71827833	+	Splice_Site	SNP	G	G	T	rs535124096		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:71827833G>T	ENST00000258104.3	+	34	3981	c.3704G>T	c.(3703-3705)gGt>gTt	p.G1235V	DYSF_ENST00000413539.2_Splice_Site_p.G1266V|DYSF_ENST00000409582.3_Splice_Site_p.G1252V|DYSF_ENST00000409744.1_Splice_Site_p.G1222V|DYSF_ENST00000429174.2_Splice_Site_p.G1235V|DYSF_ENST00000409762.1_Splice_Site_p.G1252V|DYSF_ENST00000409366.1_Splice_Site_p.G1236V|DYSF_ENST00000394120.2_Splice_Site_p.G1236V|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410041.1_Splice_Site_p.G1253V|DYSF_ENST00000409651.1_Splice_Site_p.G1267V|DYSF_ENST00000410020.3_Splice_Site_p.G1253V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1235	C2 4. {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.G1235V(2)|p.G1253V(2)		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						TTGGTCTAGGGTGCAGACGAG	0.577																																							uc002sie.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(3703-3705)GGT>GTT		dysferlin isoform 8							83.0	86.0	85.0					2																	71827833		2203	4300	6503	SO:0001630	splice_region_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71827833G>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.3703-1G>T	2.37:g.71827833G>T						DYSF_uc010feg.2_Missense_Mutation_p.G1266V|DYSF_uc010feh.2_Missense_Mutation_p.G1221V|DYSF_uc002sig.3_Missense_Mutation_p.G1221V|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.G1235V|DYSF_uc010fef.2_Missense_Mutation_p.G1252V|DYSF_uc010fei.2_Missense_Mutation_p.G1252V|DYSF_uc010fek.2_Missense_Mutation_p.G1253V|DYSF_uc010fej.2_Missense_Mutation_p.G1222V|DYSF_uc010fel.2_Missense_Mutation_p.G1222V|DYSF_uc010feo.2_Missense_Mutation_p.G1267V|DYSF_uc010fem.2_Missense_Mutation_p.G1236V|DYSF_uc010fen.2_Missense_Mutation_p.G1253V|DYSF_uc002sif.2_Missense_Mutation_p.G1236V|DYSF_uc010yqy.1_Missense_Mutation_p.G116V|DYSF_uc010yqz.1_5'Flank	p.G1235V	NM_003494	NP_003485	O75923	DYSF_HUMAN			34	4080	+			1235			Cytoplasmic (Potential).|C2 4.		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.3704G>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.345043	0.61073	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58	5.39	5.39	0.77823	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	0.93772	0.8009	H	0.95187	3.635	0.80722	D	1	D;D;D;P;D;D;D;D;D;D;D;D;D;D	0.76494	0.99;0.974;0.99;0.954;0.996;0.999;0.996;0.972;0.99;0.98;0.998;0.974;0.983;0.992	D;P;D;P;D;D;D;P;D;D;D;P;D;D	0.79108	0.959;0.877;0.945;0.877;0.982;0.992;0.982;0.858;0.959;0.959;0.976;0.877;0.959;0.968	D	0.95386	0.8477	10	0.87932	D	0	-6.932	16.6512	0.85203	0.0:0.0:1.0:0.0	.	1267;1253;1236;1222;1253;1222;1252;1221;1266;1252;1235;1221;1236;1235	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	V	1266;1252;1252;1235;1235;1267;1236;1222;1236;1253;1253	ENSP00000407046:G1266V;ENSP00000387137:G1252V;ENSP00000386547:G1252V;ENSP00000398305:G1235V;ENSP00000258104:G1235V;ENSP00000386683:G1267V;ENSP00000377678:G1236V;ENSP00000386285:G1222V;ENSP00000386512:G1236V;ENSP00000386881:G1253V;ENSP00000386617:G1253V	ENSP00000258104:G1235V	G	+	2	0	DYSF	71681341	1.000000	0.71417	0.987000	0.45799	0.026000	0.11368	9.370000	0.97159	2.525000	0.85131	0.655000	0.94253	GGT		0.577	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	Missense_Mutation	106	192	1	0	2.68927e-46	0.00361	5.43371e-46	106	192				
LBX2	85474	broad.mit.edu	37	2	74725064	74725064	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:74725064A>T	ENST00000377566.4	-	2	765	c.587T>A	c.(586-588)gTg>gAg	p.V196E	LBX2_ENST00000460508.3_Missense_Mutation_p.V192E|AC005041.17_ENST00000479098.1_RNA|LBX2_ENST00000550249.1_5'UTR|LBX2_ENST00000341396.2_3'UTR	NM_001282430.1	NP_001269359.1	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V192E(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						TCAATCGTCCACCTGTATCTC	0.667																																							uc002slv.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(586-588)GTG>GAG		ladybird homeobox 2							23.0	26.0	25.0					2																	74725064		2184	4293	6477	SO:0001583	missense	85474					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:74725064A>T	AC005041	CCDS33228.1, CCDS62938.1	2p13.1	2014-05-06	2007-02-15		ENSG00000179528	ENSG00000179528		"""Homeoboxes / ANTP class : NKL subclass"""	15525	protein-coding gene	gene with protein product		607164	"""ladybird homeobox homolog 2 (Drosophila)"""			11386758	Standard	NM_001282430		Approved		uc002slw.3	Q6XYB7	OTTHUMG00000170595	ENST00000377566.4:c.587T>A	2.37:g.74725064A>T	ENSP00000366789:p.Val196Glu					LBX2_uc002slw.2_Missense_Mutation_p.V192E	p.V196E	NM_001009812	NP_001009812	Q6XYB7	LBX2_HUMAN			2	592	-			196					Q7Z5Y8	Missense_Mutation	SNP	ENST00000377566.4	37	c.587T>A		.	.	.	.	.	.	.	.	.	.	A	20.9	4.059087	0.76074	.	.	ENSG00000179528	ENST00000377566;ENST00000460508	D;D	0.92595	-2.91;-3.07	4.91	3.75	0.43078	.	0.000000	0.41396	D	0.000889	D	0.90504	0.7025	L	0.32530	0.975	0.80722	D	1	D;D	0.67145	0.996;0.961	P;P	0.59948	0.866;0.617	D	0.88712	0.3223	10	0.87932	D	0	.	4.3332	0.11073	0.7334:0.0:0.0927:0.1738	.	192;196	Q6XYB7-2;Q6XYB7	.;LBX2_HUMAN	E	196;192	ENSP00000366789:V196E;ENSP00000417116:V192E	ENSP00000366789:V196E	V	-	2	0	LBX2	74578572	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	1.893000	0.39758	0.903000	0.36546	0.459000	0.35465	GTG		0.667	LBX2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328490.1	NM_001009812		19	27	0	0	0	0.003954	0	19	27				
LRRTM4	80059	broad.mit.edu	37	2	77745991	77745991	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:77745991C>A	ENST00000409093.1	-	3	1340	c.1004G>T	c.(1003-1005)aGc>aTc	p.S335I	LRRTM4_ENST00000409884.1_Missense_Mutation_p.S335I|LRRTM4_ENST00000409911.1_Missense_Mutation_p.S336I|LRRTM4_ENST00000409282.1_Missense_Mutation_p.S336I|LRRTM4_ENST00000409088.3_Missense_Mutation_p.S335I			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	335	LRRCT.				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.S335I(4)		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)		TATCATGGTGCTTTCCTTATT	0.393																																							uc002snr.2		NA																	4	Substitution - Missense(4)		lung(4)	pancreas(3)|ovary(1)	4						c.(1003-1005)AGC>ATC		leucine rich repeat transmembrane neuronal 4							49.0	46.0	47.0					2																	77745991		1877	4089	5966	SO:0001583	missense	80059					integral to membrane		g.chr2:77745991C>A	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.1004G>T	2.37:g.77745991C>A	ENSP00000386357:p.Ser335Ile					LRRTM4_uc002snq.2_Missense_Mutation_p.S335I|LRRTM4_uc002sns.2_Missense_Mutation_p.S335I|LRRTM4_uc002snt.2_Missense_Mutation_p.S336I	p.S335I	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1419	-			335			LRRCT.|Extracellular (Potential).		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.1004G>T	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	C	9.742	1.165155	0.21538	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.53423	0.62;0.64;0.64;0.7;0.71	5.73	5.73	0.89815	.	0.143641	0.64402	D	0.000006	T	0.43919	0.1269	L	0.47716	1.5	0.50813	D	0.999897	B;B;B	0.14805	0.011;0.007;0.011	B;B;B	0.15052	0.007;0.007;0.012	T	0.24190	-1.0167	10	0.20519	T	0.43	.	18.4589	0.90731	0.0:1.0:0.0:0.0	.	336;335;335	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	I	336;335;335;335;336	ENSP00000387228:S336I;ENSP00000387297:S335I;ENSP00000386357:S335I;ENSP00000386236:S335I;ENSP00000386286:S336I	ENSP00000386236:S335I	S	-	2	0	LRRTM4	77599499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.605000	0.54088	2.694000	0.91930	0.655000	0.94253	AGC		0.393	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		5	26	1	0	1.23904e-05	0.000602	1.35606e-05	5	26				
ATOH8	84913	broad.mit.edu	37	2	85991289	85991289	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:85991289G>C	ENST00000306279.3	+	2	1240	c.944G>C	c.(943-945)cGt>cCt	p.R315P	ATOH8_ENST00000463422.1_3'UTR	NM_032827.6	NP_116216.2	Q96SQ7	ATOH8_HUMAN	atonal homolog 8 (Drosophila)	315					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R315P(2)		cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GCCGAGGGACGTGCCAAGAAG	0.657																																							uc002sqn.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(943-945)CGT>CCT		atonal homolog 8							53.0	50.0	51.0					2																	85991289		2203	4300	6503	SO:0001583	missense	84913				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:85991289G>C	AK074681	CCDS1985.1	2p11.2	2013-05-21			ENSG00000168874	ENSG00000168874		"""Basic helix-loop-helix proteins"""	24126	protein-coding gene	gene with protein product	"""basic helix loop helix transcription factor 6"""					12419857	Standard	NM_032827		Approved	HATH6, FLJ14708, bHLHa21	uc002sqn.3	Q96SQ7	OTTHUMG00000130178	ENST00000306279.3:c.944G>C	2.37:g.85991289G>C	ENSP00000304676:p.Arg315Pro					ATOH8_uc002sqm.3_Missense_Mutation_p.R315P	p.R315P	NM_032827	NP_116216	Q96SQ7	ATOH8_HUMAN			2	1348	+			315					Q504S2|Q659B0	Missense_Mutation	SNP	ENST00000306279.3	37	c.944G>C	CCDS1985.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490669	0.84962	.	.	ENSG00000168874	ENST00000306279	D	0.95918	-3.85	5.02	5.02	0.67125	Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.96697	0.8922	L	0.46157	1.445	0.46044	D	0.998834	D;D	0.76494	0.999;0.999	D;D	0.76575	0.942;0.988	D	0.97395	0.9992	10	0.87932	D	0	-2.493	17.7356	0.88391	0.0:0.0:1.0:0.0	.	315;315	Q96SQ7;Q96SQ7-2	ATOH8_HUMAN;.	P	315	ENSP00000304676:R315P	ENSP00000304676:R315P	R	+	2	0	ATOH8	85844800	1.000000	0.71417	0.606000	0.28943	0.983000	0.72400	9.218000	0.95166	2.510000	0.84645	0.655000	0.94253	CGT		0.657	ATOH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252496.1	NM_032827		11	80	0	0	0	0.003163	0	11	80				
CD8A	925	broad.mit.edu	37	2	87017643	87017643	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:87017643G>C	ENST00000409511.2	-	5	1241	c.211C>G	c.(211-213)Cta>Gta	p.L71V	CD8A_ENST00000409781.1_Missense_Mutation_p.L71V|CD8A_ENST00000352580.3_Missense_Mutation_p.L71V|CD8A_ENST00000283635.3_Missense_Mutation_p.L71V|CD8A_ENST00000456996.2_Missense_Mutation_p.L71V|CD8A_ENST00000538832.1_Missense_Mutation_p.L112V	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	71	Ig-like V-type.				antigen processing and presentation (GO:0019882)|cytotoxic T cell differentiation (GO:0045065)|defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of calcium-mediated signaling (GO:0050850)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|T cell mediated immunity (GO:0002456)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)	p.L71V(2)		lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						GAGAGGTATAGGAGGAAGGTG	0.667																																							uc002srt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(211-213)CTA>GTA		CD8 antigen alpha polypeptide isoform 1							47.0	58.0	54.0					2																	87017643		2203	4300	6503	SO:0001583	missense	925				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87017643G>C		CCDS1992.1, CCDS1993.1	2p12	2014-09-17	2006-03-28		ENSG00000153563	ENSG00000153563		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1706	protein-coding gene	gene with protein product		186910	"""CD8 antigen, alpha polypeptide (p32)"", ""T-cell surface glycoprotein CD8 alpha chain"""	CD8		1541829	Standard	NM_171827		Approved		uc002sru.3	P01732	OTTHUMG00000130265	ENST00000409511.2:c.211C>G	2.37:g.87017643G>C	ENSP00000386559:p.Leu71Val					RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Missense_Mutation_p.L71V|CD8A_uc010ytn.1_Missense_Mutation_p.L112V|CD8A_uc002sru.2_Missense_Mutation_p.L71V	p.L71V	NM_001768	NP_001759	P01732	CD8A_HUMAN			2	1100	-			71			Ig-like V-type.|Extracellular (Potential).		B4DT80|D6W5M8|Q13970|Q4ZG17	Missense_Mutation	SNP	ENST00000409511.2	37	c.211C>G	CCDS1992.1	.	.	.	.	.	.	.	.	.	.	G	1.118	-0.656037	0.03480	.	.	ENSG00000153563	ENST00000456996;ENST00000352580;ENST00000283635;ENST00000409511;ENST00000442577;ENST00000538832;ENST00000409781	T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	4.69	-0.863	0.10669	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.808133	0.11313	N	0.576864	T	0.45955	0.1368	L	0.36672	1.1	0.09310	N	1	P;B;B	0.44241	0.829;0.187;0.095	P;B;B	0.44422	0.449;0.09;0.086	T	0.37979	-0.9682	10	0.02654	T	1	-16.5302	7.1214	0.25446	0.0:0.2423:0.2507:0.5069	.	112;71;71	B4DT80;P01732-2;P01732	.;.;CD8A_HUMAN	V	71;71;71;71;71;112;71	ENSP00000398868:L71V;ENSP00000321631:L71V;ENSP00000283635:L71V;ENSP00000386559:L71V;ENSP00000438371:L112V;ENSP00000387314:L71V	ENSP00000283635:L71V	L	-	1	2	CD8A	86871154	0.000000	0.05858	0.004000	0.12327	0.023000	0.10783	-1.582000	0.02117	-0.402000	0.07633	0.561000	0.74099	CTA		0.667	CD8A-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330784.3	NM_001768		30	107	0	0	0	0.003271	0	30	107				
POLR1B	84172	broad.mit.edu	37	2	113304689	113304689	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:113304689G>C	ENST00000263331.5	+	2	858	c.278G>C	c.(277-279)tGc>tCc	p.C93S	POLR1B_ENST00000537335.1_Intron|POLR1B_ENST00000409894.3_Missense_Mutation_p.C93S|POLR1B_ENST00000541869.1_Missense_Mutation_p.C131S|POLR1B_ENST00000417433.2_Intron	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	93					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.C93S(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GGGACCATCTGCAAAGAGGCC	0.458																																					Ovarian(16;256 576 9537 23969 41147)	Ovarian(16;256 576 9537 23969 41147)	uc002thw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(277-279)TGC>TCC		RNA polymerase I polypeptide B isoform 1							102.0	93.0	96.0					2																	113304689		2203	4300	6503	SO:0001583	missense	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113304689G>C	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.278G>C	2.37:g.113304689G>C	ENSP00000263331:p.Cys93Ser					POLR1B_uc010fkn.2_Intron|POLR1B_uc002thx.2_5'UTR|POLR1B_uc010fko.2_Missense_Mutation_p.C93S|POLR1B_uc010fkp.2_Intron|POLR1B_uc010yxn.1_Missense_Mutation_p.C131S|POLR1B_uc002thy.2_5'UTR|POLR1B_uc010yxo.1_Intron	p.C93S	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN			2	858	+			93					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	c.278G>C	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960142	0.53400	.	.	ENSG00000125630	ENST00000263331;ENST00000438748;ENST00000430769;ENST00000541869;ENST00000409894	T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08	5.66	5.66	0.87406	RNA polymerase, beta subunit, protrusion (1);	0.040648	0.85682	D	0.000000	T	0.40423	0.1116	N	0.05487	-0.04	0.80722	D	1	B;B;B	0.29136	0.003;0.234;0.013	B;B;B	0.32090	0.004;0.14;0.025	T	0.28586	-1.0039	10	0.13470	T	0.59	-23.3346	18.886	0.92378	0.0:0.0:1.0:0.0	.	131;93;93	F5GZX4;F8W898;Q9H9Y6	.;.;RPA2_HUMAN	S	93;93;93;131;93	ENSP00000263331:C93S;ENSP00000388577:C93S;ENSP00000415754:C93S;ENSP00000444136:C131S;ENSP00000387143:C93S	ENSP00000263331:C93S	C	+	2	0	POLR1B	113021160	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.730000	0.91510	2.824000	0.97209	0.655000	0.94253	TGC		0.458	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		26	90	0	0	0	0.003954	0	26	90				
MARCO	8685	broad.mit.edu	37	2	119727850	119727850	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:119727850C>A	ENST00000327097.4	+	3	495	c.360C>A	c.(358-360)ctC>ctA	p.L120L	MARCO_ENST00000541757.1_Silent_p.L42L	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	120					apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.L120L(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGGCCCAACTCACCTGGGTCC	0.612																																					GBM(8;18 374 7467 11269 32796)	GBM(8;18 374 7467 11269 32796)	uc002tln.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(358-360)CTC>CTA		macrophage receptor with collagenous structure							68.0	53.0	58.0					2																	119727850		2203	4300	6503	SO:0001819	synonymous_variant	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119727850C>A	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.360C>A	2.37:g.119727850C>A						MARCO_uc010yyf.1_Silent_p.L42L	p.L120L	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN			3	492	+			120			Extracellular (Potential).		B4DW79|Q9Y5S3	Silent	SNP	ENST00000327097.4	37	c.360C>A	CCDS2124.1																																																																																				0.612	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		17	77	1	0	5.3912e-06	0.006122	5.97506e-06	17	77				
MARCO	8685	broad.mit.edu	37	2	119749443	119749443	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:119749443G>T	ENST00000327097.4	+	14	1334	c.1199G>T	c.(1198-1200)gGa>gTa	p.G400V	MARCO_ENST00000541757.1_Missense_Mutation_p.G322V	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	400	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.G400V(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGAGACCAGGGAGTGAAAGGT	0.547																																					GBM(8;18 374 7467 11269 32796)	GBM(8;18 374 7467 11269 32796)	uc002tln.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1198-1200)GGA>GTA		macrophage receptor with collagenous structure							38.0	34.0	35.0					2																	119749443		2197	4297	6494	SO:0001583	missense	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119749443G>T	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.1199G>T	2.37:g.119749443G>T	ENSP00000318916:p.Gly400Val					MARCO_uc010yyf.1_Missense_Mutation_p.G322V	p.G400V	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN			14	1331	+			400			Collagen-like.|Extracellular (Potential).		B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	c.1199G>T	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262115	0.39995	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	D;D	0.99637	-6.29;-6.29	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	D	0.99809	0.9917	H	0.98388	4.22	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.96956	0.9698	9	.	.	.	.	15.2568	0.73591	0.0:0.0:1.0:0.0	.	400	Q9UEW3	MARCO_HUMAN	V	400;400;322	ENSP00000318916:G400V;ENSP00000441769:G322V	.	G	+	2	0	MARCO	119465913	0.998000	0.40836	0.221000	0.23827	0.002000	0.02628	4.936000	0.63506	2.735000	0.93741	0.655000	0.94253	GGA		0.547	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		11	16	1	0	5.50884e-06	0.001368	6.07978e-06	11	16				
CNTNAP5	129684	broad.mit.edu	37	2	125281944	125281944	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:125281944G>T	ENST00000431078.1	+	9	1753	c.1389G>T	c.(1387-1389)acG>acT	p.T463T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	463	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.T463T(2)		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)		ACCGCATCACGCTCACTCTGG	0.493																																							uc002tno.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(10)	10						c.(1387-1389)ACG>ACT		contactin associated protein-like 5 precursor							72.0	77.0	75.0					2																	125281944		2058	4213	6271	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125281944G>T	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.1389G>T	2.37:g.125281944G>T						CNTNAP5_uc010flu.2_Silent_p.T464T	p.T463T	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	9	1753	+			463			Laminin G-like 2.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.1389G>T	CCDS46401.1																																																																																				0.493	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			23	77	1	0	3.62473e-10	0.001882	4.51944e-10	23	77				
GPR148	344561	broad.mit.edu	37	2	131487640	131487640	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:131487640G>T	ENST00000309926.4	+	1	998	c.916G>T	c.(916-918)Gag>Tag	p.E306*		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E306*(2)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					AGCTAACAGTGAGGTACTCAT	0.597																																							uc002trv.1		NA																	2	Substitution - Nonsense(2)		lung(2)	skin(1)	1						c.(916-918)GAG>TAG		G protein-coupled receptor 148							136.0	105.0	116.0					2																	131487640		2203	4300	6503	SO:0001587	stop_gained	344561					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:131487640G>T	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.916G>T	2.37:g.131487640G>T	ENSP00000308908:p.Glu306*						p.E306*	NM_207364	NP_997247	Q8TDV2	GP148_HUMAN			1	918	+	Colorectal(110;0.1)		306			Helical; Name=7; (Potential).		Q2M369|Q86SP7|Q86U87	Nonsense_Mutation	SNP	ENST00000309926.4	37	c.916G>T	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	18.96	3.733255	0.69189	.	.	ENSG00000173302	ENST00000309926	.	.	.	3.37	0.188	0.15114	.	0.270663	0.25572	U	0.029743	.	.	.	.	.	.	0.40906	D	0.984194	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-4.3262	6.3679	0.21465	0.11:0.3545:0.5355:0.0	.	.	.	.	X	306	.	ENSP00000308908:E306X	E	+	1	0	GPR148	131204110	0.136000	0.22515	0.026000	0.17262	0.797000	0.45037	0.447000	0.21710	-0.235000	0.09767	0.462000	0.41574	GAG		0.597	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		16	126	1	0	2.35188e-11	0.006122	3.10433e-11	16	126				
AMER3	205147	broad.mit.edu	37	2	131520903	131520903	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:131520903G>T	ENST00000423981.1	+	2	1368	c.1258G>T	c.(1258-1260)Gac>Tac	p.D420Y	AMER3_ENST00000321420.4_Missense_Mutation_p.D420Y	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	420					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.D420Y(2)									CTACAGTGGGGACGCCCTCTA	0.622																																							uc002trw.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(2)|ovary(1)	3						c.(1258-1260)GAC>TAC		hypothetical protein LOC205147							54.0	49.0	51.0					2																	131520903		2203	4300	6503	SO:0001583	missense	205147							g.chr2:131520903G>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1258G>T	2.37:g.131520903G>T	ENSP00000392700:p.Asp420Tyr					FAM123C_uc010fmv.2_Missense_Mutation_p.D420Y|FAM123C_uc010fms.1_Missense_Mutation_p.D420Y|FAM123C_uc010fmt.1_Missense_Mutation_p.D420Y|FAM123C_uc010fmu.1_Missense_Mutation_p.D420Y	p.D420Y	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	1448	+	Colorectal(110;0.1)		420					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.1258G>T	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030841	0.75504	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.53857	0.6;0.6	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000002	T	0.63733	0.2536	L	0.32530	0.975	0.51482	D	0.999924	D	0.89917	1.0	D	0.97110	1.0	T	0.66724	-0.5851	10	0.87932	D	0	.	16.6073	0.84834	0.0:0.0:1.0:0.0	.	420	Q8N944	F123C_HUMAN	Y	420	ENSP00000314914:D420Y;ENSP00000392700:D420Y	ENSP00000314914:D420Y	D	+	1	0	FAM123C	131237373	1.000000	0.71417	0.964000	0.40570	0.778000	0.44026	8.796000	0.91877	2.602000	0.87976	0.561000	0.74099	GAC		0.622	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		18	66	1	0	2.21704e-12	0.00278	3.07575e-12	18	66				
LRP1B	53353	broad.mit.edu	37	2	140995750	140995750	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:140995750C>A	ENST00000389484.3	-	89	14502	c.13531G>T	c.(13531-13533)Gat>Tat	p.D4511Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4511					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.D4511Y(2)		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)		AAGCCAGGATCTAAAAGACCT	0.373										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(13531-13533)GAT>TAT		low density lipoprotein-related protein 1B							191.0	177.0	182.0					2																	140995750		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:140995750C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13531G>T	2.37:g.140995750C>A	ENSP00000374135:p.Asp4511Tyr	TSP Lung(27;0.18)					p.D4511Y	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)	89	14503	-		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)	4511			Cytoplasmic (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.13531G>T	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.086772|4.086772	0.76642|0.76642	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	T|.	0.54866|.	0.55|.	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	0.466272|.	0.21640|.	N|.	0.071355|.	T|.	0.61211|.	0.2329|.	M|M	0.61703|0.61703	1.905|1.905	0.27889|0.27889	N|N	0.939396|0.939396	P|.	0.39624|.	0.681|.	B|.	0.33750|.	0.169|.	T|.	0.55945|.	-0.8060|.	10|.	0.87932|.	D|.	0|.	.|.	19.0666|19.0666	0.93114|0.93114	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4511|.	Q9NZR2|.	LRP1B_HUMAN|.	Y|Y	4511;4449|742	ENSP00000374135:D4511Y|.	ENSP00000374135:D4511Y|.	D|X	-|-	1|3	0|2	LRP1B|LRP1B	140712220|140712220	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.935000|0.935000	0.57460|0.57460	4.100000|4.100000	0.57762|0.57762	2.736000|2.736000	0.93811|0.93811	0.655000|0.655000	0.94253|0.94253	GAT|TAG		0.373	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		30	95	1	0	6.38683e-12	0.008361	8.66235e-12	30	95				
LRP1B	53353	broad.mit.edu	37	2	141459809	141459809	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:141459809T>C	ENST00000389484.3	-	39	7174	c.6203A>G	c.(6202-6204)gAc>gGc	p.D2068G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2068					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.D2068G(2)		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)		AGTCTCAAGGTCGATTCTCTC	0.413										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(6202-6204)GAC>GGC		low density lipoprotein-related protein 1B							201.0	178.0	186.0					2																	141459809		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141459809T>C	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.6203A>G	2.37:g.141459809T>C	ENSP00000374135:p.Asp2068Gly	TSP Lung(27;0.18)					p.D2068G	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)	39	7175	-		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)	2068			Extracellular (Potential).|LDL-receptor class B 22.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.6203A>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.936393	0.73442	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.94184	-3.37	5.6	5.6	0.85130	Six-bladed beta-propeller, TolB-like (1);	0.199326	0.42420	U	0.000720	D	0.91226	0.7235	L	0.58510	1.815	0.51012	D	0.999905	P	0.46395	0.877	B	0.38106	0.265	D	0.91899	0.5530	10	0.56958	D	0.05	.	15.7947	0.78401	0.0:0.0:0.0:1.0	.	2068	Q9NZR2	LRP1B_HUMAN	G	2068;2006	ENSP00000374135:D2068G	ENSP00000374135:D2068G	D	-	2	0	LRP1B	141176279	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.929000	0.87595	2.134000	0.65973	0.455000	0.32223	GAC		0.413	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		43	95	0	0	0	0.00361	0	43	95				
ZEB2	9839	broad.mit.edu	37	2	145274897	145274897	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:145274897C>A	ENST00000558170.2	-	2	1205	c.21G>T	c.(19-21)gcG>gcT	p.A7A	ZEB2_ENST00000462355.1_Silent_p.A7A|ZEB2_ENST00000303660.4_Silent_p.A7A|ZEB2-AS1_ENST00000427278.3_RNA|ZEB2-AS1_ENST00000602006.1_RNA|ZEB2_ENST00000493689.1_5'UTR|ZEB2-AS1_ENST00000428623.1_RNA|ZEB2-AS1_ENST00000595109.1_RNA|ZEB2-AS1_ENST00000609376.1_RNA|ZEB2_ENST00000409487.3_Silent_p.A7A|ZEB2-AS1_ENST00000609819.1_RNA|ZEB2-AS1_ENST00000609842.1_RNA|ZEB2_ENST00000470879.1_Silent_p.A7A|ZEB2-AS1_ENST00000610265.1_RNA|ZEB2_ENST00000539609.3_Silent_p.A7A|ZEB2_ENST00000465070.1_Silent_p.A7A|ZEB2-AS1_ENST00000421083.1_RNA|ZEB2-AS1_ENST00000608361.1_RNA	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	7					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.A7A(2)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGGGGCCATCCGCCATGATCG	0.587																																					Melanoma(33;1235 1264 5755 16332)	Melanoma(33;1235 1264 5755 16332)	uc002tvu.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(19-21)GCG>GCT		zinc finger homeobox 1b							130.0	133.0	132.0					2																	145274897		2203	4300	6503	SO:0001819	synonymous_variant	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145274897C>A	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.21G>T	2.37:g.145274897C>A						ZEB2_uc002tvv.2_Silent_p.A2A|ZEB2_uc010zbm.1_Silent_p.A2A|ZEB2_uc010fnp.2_Silent_p.A2A|ZEB2_uc010fnq.1_Silent_p.A36A|ZEB2_uc002tvw.2_Silent_p.A2A|ZEB2_uc002tvx.1_RNA|ZEB2_uc002tvy.2_Silent_p.A36A|ZEB2_uc002tvz.2_RNA|ZEB2_uc002twa.2_RNA	p.A7A	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	2	501	-			7					A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	ENST00000558170.2	37	c.21G>T	CCDS2186.1																																																																																				0.587	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		12	77	1	0	0.00010058	0.001368	0.00010754	12	77				
NEB	4703	broad.mit.edu	37	2	152566225	152566225	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:152566225T>A	ENST00000172853.10	-	12	1127	c.980A>T	c.(979-981)cAg>cTg	p.Q327L	NEB_ENST00000604864.1_Missense_Mutation_p.Q327L|NEB_ENST00000427231.2_Missense_Mutation_p.Q327L|NEB_ENST00000409198.1_Missense_Mutation_p.Q327L|NEB_ENST00000397345.3_Missense_Mutation_p.Q327L|NEB_ENST00000603639.1_Missense_Mutation_p.Q327L			P20929	NEBU_HUMAN	nebulin	327					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.Q327L(4)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTTTCGGTCTGCATGAAGTA	0.398																																							uc010fnx.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(979-981)CAG>CTG		nebulin isoform 3							117.0	100.0	105.0					2																	152566225		1831	4085	5916	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152566225T>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.980A>T	2.37:g.152566225T>A	ENSP00000172853:p.Gln327Leu					NEB_uc010fny.1_5'Flank	p.Q327L	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	12	1171	-			327			Nebulin 8.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.980A>T		.	.	.	.	.	.	.	.	.	.	T	18.22	3.576655	0.65878	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000536533	T;T;T;T	0.06294	3.32;3.34;3.34;3.32	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.10380	0.0254	L	0.29908	0.895	0.80722	D	1	P	0.47484	0.896	P	0.50490	0.642	T	0.09122	-1.0689	10	0.46703	T	0.11	.	15.3425	0.74309	0.0:0.0:0.0:1.0	.	327	P20929	NEBU_HUMAN	L	327;327;327;327;53	ENSP00000386259:Q327L;ENSP00000380505:Q327L;ENSP00000416578:Q327L;ENSP00000172853:Q327L	ENSP00000172853:Q327L	Q	-	2	0	NEB	152274471	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.273000	0.72581	2.113000	0.64589	0.533000	0.62120	CAG		0.398	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		4	16	0	0	0	0.009096	0	4	16				
BAZ2B	29994	broad.mit.edu	37	2	160229615	160229615	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:160229615C>G	ENST00000392783.2	-	27	4649	c.4154G>C	c.(4153-4155)cGg>cCg	p.R1385P	BAZ2B_ENST00000355831.2_Missense_Mutation_p.R1351P|BAZ2B_ENST00000343439.5_Missense_Mutation_p.R1285P|BAZ2B_ENST00000392782.1_Missense_Mutation_p.R1349P	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1385					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.R1385P(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AATCCAGTACCGGCGTCTGTA	0.428																																							uc002uao.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(4153-4155)CGG>CCG		bromodomain adjacent to zinc finger domain, 2B							93.0	84.0	87.0					2																	160229615		1847	4099	5946	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160229615C>G	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.4154G>C	2.37:g.160229615C>G	ENSP00000376534:p.Arg1385Pro					BAZ2B_uc002uap.2_Missense_Mutation_p.R1349P	p.R1385P	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			27	4506	-			1385					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.4154G>C	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112001	0.56398	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.68025	-0.29;-0.3;-0.29;-0.3	5.18	5.18	0.71444	.	0.000000	0.33895	U	0.004444	D	0.83871	0.5348	M	0.82823	2.61	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.86195	0.1615	10	0.87932	D	0	-9.4471	19.058	0.93074	0.0:1.0:0.0:0.0	.	1349;1385	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	P	1349;1385;1351;1285	ENSP00000376533:R1349P;ENSP00000376534:R1385P;ENSP00000348087:R1351P;ENSP00000339670:R1285P	ENSP00000339670:R1285P	R	-	2	0	BAZ2B	159937861	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	7.713000	0.84693	2.574000	0.86865	0.467000	0.42956	CGG		0.428	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			12	85	0	0	0	0.00245	0	12	85				
BAZ2B	29994	broad.mit.edu	37	2	160294973	160294973	+	Silent	SNP	C	C	A	rs186314882	byFrequency	TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:160294973C>A	ENST00000392783.2	-	8	1629	c.1134G>T	c.(1132-1134)acG>acT	p.T378T	BAZ2B_ENST00000355831.2_Silent_p.T378T|BAZ2B_ENST00000343439.5_Silent_p.T376T|BAZ2B_ENST00000392782.1_Silent_p.T376T	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	378					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.T378T(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						ACACCAATCCCGTAGACTGTA	0.408																																							uc002uao.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(1)	4						c.(1132-1134)ACG>ACT		bromodomain adjacent to zinc finger domain, 2B							151.0	137.0	142.0					2																	160294973		1838	4097	5935	SO:0001819	synonymous_variant	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160294973C>A	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1134G>T	2.37:g.160294973C>A						BAZ2B_uc002uap.2_Silent_p.T376T|BAZ2B_uc002uas.1_Silent_p.T315T|BAZ2B_uc002uau.1_Silent_p.T376T|BAZ2B_uc002uaq.1_Silent_p.T306T|BAZ2B_uc002uat.3_3'UTR|BAZ2B_uc010fop.1_Silent_p.T376T	p.T378T	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			8	1486	-			378					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Silent	SNP	ENST00000392783.2	37	c.1134G>T	CCDS2209.2																																																																																				0.408	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			18	142	1	0	7.05477e-17	0.00499	1.08366e-16	18	142				
LY75	4065	broad.mit.edu	37	2	160741774	160741774	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:160741774G>A	ENST00000263636.4	-	6	971	c.944C>T	c.(943-945)tCc>tTc	p.S315F	LY75_ENST00000553424.1_Missense_Mutation_p.S315F|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.S315F|LY75_ENST00000554112.1_Missense_Mutation_p.S315F|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.S315F	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	315	C-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.S315F(2)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TGCACAGCTGGAGCCACCTAT	0.448																																							uc002ubc.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(943-945)TCC>TTC		lymphocyte antigen 75 precursor							104.0	108.0	106.0					2																	160741774		2203	4300	6503	SO:0001583	missense	4065				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160741774G>A	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.944C>T	2.37:g.160741774G>A	ENSP00000263636:p.Ser315Phe					LY75_uc002ubb.3_Missense_Mutation_p.S315F|LY75_uc010fos.2_Missense_Mutation_p.S315F|LY75_uc010fot.1_Missense_Mutation_p.S315F	p.S315F	NM_002349	NP_002340	O60449	LY75_HUMAN		COAD - Colon adenocarcinoma(177;0.132)	6	1013	-			315			Extracellular (Potential).|C-type lectin 1.		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	c.944C>T	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.335343	0.60853	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	5.77	5.77	0.91146	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.30151	N	0.010294	T	0.71676	0.3368	M	0.76170	2.325	0.23806	N	0.996791	D;D;D	0.89917	0.997;0.998;1.0	D;D;D	0.91635	0.954;0.98;0.999	T	0.66152	-0.5995	10	0.66056	D	0.02	-14.5311	13.8478	0.63479	0.0:0.0:0.8476:0.1524	.	315;315;315	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	F	315	ENSP00000451511:S315F;ENSP00000451446:S315F;ENSP00000263636:S315F;ENSP00000423463:S315F;ENSP00000421035:S315F	ENSP00000423463:S315F	S	-	2	0	LY75;LY75-CD302	160450020	0.332000	0.24722	0.967000	0.41034	0.552000	0.35366	2.344000	0.44010	2.745000	0.94114	0.650000	0.86243	TCC		0.448	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			34	117	0	0	0	0.005524	0	34	117				
SLC4A10	57282	broad.mit.edu	37	2	162661084	162661084	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:162661084G>T	ENST00000446997.1	+	3	349	c.256G>T	c.(256-258)Gga>Tga	p.G86*	SLC4A10_ENST00000421911.1_Nonsense_Mutation_p.G86*|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000415876.2_Nonsense_Mutation_p.G86*|SLC4A10_ENST00000535165.1_Nonsense_Mutation_p.G86*|SLC4A10_ENST00000375514.5_Nonsense_Mutation_p.G97*|SLC4A10_ENST00000272716.5_Nonsense_Mutation_p.G86*	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	86					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.G86*(4)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	ATTAGAGGATGGAAGGGAGTC	0.378																																							uc002ubx.3		NA																	4	Substitution - Nonsense(4)		lung(4)	ovary(2)|lung(2)|pancreas(1)	5						c.(256-258)GGA>TGA		solute carrier family 4, sodium bicarbonate							88.0	95.0	93.0					2																	162661084		1883	4111	5994	SO:0001587	stop_gained	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162661084G>T		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.256G>T	2.37:g.162661084G>T	ENSP00000393066:p.Gly86*					SLC4A10_uc010fpa.1_Nonsense_Mutation_p.G98*|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Nonsense_Mutation_p.G86*|SLC4A10_uc010zcs.1_Nonsense_Mutation_p.G97*	p.G86*	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			3	440	+			86			Cytoplasmic (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Nonsense_Mutation	SNP	ENST00000446997.1	37	c.256G>T	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	G	36	5.830848	0.97003	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000535165;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	.	.	.	5.37	5.37	0.77165	.	0.051031	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.4724	0.94967	0.0:0.0:1.0:0.0	.	.	.	.	X	97;86;86;86;86;86;86;86	.	ENSP00000272716:G86X	G	+	1	0	SLC4A10	162369330	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.252000	0.89840	2.689000	0.91719	0.462000	0.41574	GGA		0.378	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		3	32	1	0	0.004672	0.004672	0.00481247	3	32				
SCN2A	6326	broad.mit.edu	37	2	166198918	166198918	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:166198918G>T	ENST00000375437.2	+	15	2791	c.2501G>T	c.(2500-2502)aGt>aTt	p.S834I	SCN2A_ENST00000357398.3_Missense_Mutation_p.S834I|SCN2A_ENST00000375427.2_Missense_Mutation_p.S834I|SCN2A_ENST00000283256.6_Missense_Mutation_p.S834I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	834					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.S834I(4)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTGAGCCTTAGTTTAATGGAA	0.358																																							uc002udc.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(6)|breast(1)|pancreas(1)	8						c.(2500-2502)AGT>ATT		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						161.0	167.0	165.0					2																	166198918		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166198918G>T	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2501G>T	2.37:g.166198918G>T	ENSP00000364586:p.Ser834Ile					SCN2A_uc002udd.2_Missense_Mutation_p.S834I|SCN2A_uc002ude.2_Missense_Mutation_p.S834I	p.S834I	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			15	2791	+			834			II.|Helical; Name=S3 of repeat II; (Potential).		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.2501G>T	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.034727	0.93575	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98822	-5.16;-5.16;-5.16;-5.16	5.59	5.59	0.84812	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99603	0.9856	H	0.99347	4.525	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.998;0.999	D	0.97540	1.0085	10	0.87932	D	0	.	19.5938	0.95526	0.0:0.0:1.0:0.0	.	834;834	Q99250-2;Q99250	.;SCN2A_HUMAN	I	834	ENSP00000364586:S834I;ENSP00000349973:S834I;ENSP00000283256:S834I;ENSP00000364576:S834I	ENSP00000283256:S834I	S	+	2	0	SCN2A	165907164	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.632000	0.89209	0.643000	0.83706	AGT		0.358	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		43	128	1	0	6.68952e-21	0.003214	1.10976e-20	43	128				
B3GALT1	8708	broad.mit.edu	37	2	168726315	168726315	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:168726315C>A	ENST00000392690.3	+	1	858	c.766C>A	c.(766-768)Ctc>Atc	p.L256I	AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA|B3GALT1_ENST00000305861.1_Missense_Mutation_p.L256I			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	256					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.L256I(2)		cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						CAAGACCTCACTCCACACAAG	0.488																																							uc002udz.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(766-768)CTC>ATC		UDP-Gal:betaGlcNAc beta							116.0	102.0	107.0					2																	168726315		2203	4300	6503	SO:0001583	missense	8708				lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:168726315C>A	E07739	CCDS2227.1	2q24.3	2013-02-19			ENSG00000172318	ENSG00000172318		"""Beta 3-glycosyltransferases"""	916	protein-coding gene	gene with protein product		603093				9582303	Standard	NM_020981		Approved	beta3Gal-T1	uc002udz.1	Q9Y5Z6	OTTHUMG00000132163	ENST00000392690.3:c.766C>A	2.37:g.168726315C>A	ENSP00000376456:p.Leu256Ile						p.L256I	NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN			2	1117	+			256			Lumenal (Potential).		D3DPB8|Q53SS2	Missense_Mutation	SNP	ENST00000392690.3	37	c.766C>A	CCDS2227.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337019	0.60963	.	.	ENSG00000172318	ENST00000305861;ENST00000392690	D;D	0.86432	-2.12;-2.12	6.02	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.93959	0.8066	M	0.89214	3.015	0.58432	D	0.999996	D	0.76494	0.999	D	0.77557	0.99	D	0.93049	0.6464	10	0.37606	T	0.19	-20.4294	15.6994	0.77533	0.0:0.9337:0.0:0.0663	.	256	Q9Y5Z6	B3GT1_HUMAN	I	256	ENSP00000303740:L256I;ENSP00000376456:L256I	ENSP00000303740:L256I	L	+	1	0	B3GALT1	168434561	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	3.284000	0.51708	2.865000	0.98341	0.655000	0.94253	CTC		0.488	B3GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255211.2	NM_020981		46	84	1	0	9.84934e-19	0.002522	1.57111e-18	46	84				
MYO3B	140469	broad.mit.edu	37	2	171509600	171509600	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:171509600C>A	ENST00000408978.4	+	35	4138	c.3995C>A	c.(3994-3996)tCc>tAc	p.S1332Y	AC007277.3_ENST00000428156.1_RNA|MYO3B_ENST00000409044.3_Missense_Mutation_p.S1305Y|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Missense_Mutation_p.S1341Y	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	1332					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)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)	p.S1332Y(2)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TTTTCTTCATCCTCAAAAGGA	0.418																																							uc002ufy.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						c.(3994-3996)TCC>TAC		myosin IIIB isoform 2							144.0	138.0	140.0					2																	171509600		1858	4096	5954	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171509600C>A		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.3995C>A	2.37:g.171509600C>A	ENSP00000386213:p.Ser1332Tyr					MYO3B_uc002ufz.2_Missense_Mutation_p.S1305Y|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA|uc002ugc.1_Intron	p.S1332Y	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN			35	4138	+			1332					B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.3995C>A	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711043	0.30322	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000334231	T;T;T	0.79653	-1.27;-1.28;-1.29	5.53	5.53	0.82687	.	0.627133	0.13435	N	0.388083	T	0.77018	0.4069	N	0.08118	0	0.34874	D	0.74393	P;P	0.41848	0.763;0.651	P;B	0.49999	0.628;0.424	T	0.82822	-0.0267	10	0.54805	T	0.06	.	19.0692	0.93125	0.0:1.0:0.0:0.0	.	1305;1332	Q8WXR4-4;Q8WXR4	.;MYO3B_HUMAN	Y	1305;1332;1341	ENSP00000386497:S1305Y;ENSP00000386213:S1332Y;ENSP00000335100:S1341Y	ENSP00000335100:S1341Y	S	+	2	0	MYO3B	171217846	0.995000	0.38212	0.145000	0.22337	0.060000	0.15804	4.342000	0.59341	2.594000	0.87642	0.455000	0.32223	TCC		0.418	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			18	150	1	0	1.56452e-12	0.007413	2.17817e-12	18	150				
RBM45	129831	broad.mit.edu	37	2	178977516	178977516	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:178977516G>T	ENST00000286070.5	+	1	335	c.243G>T	c.(241-243)agG>agT	p.R81S		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	81	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R81S(2)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			AGGCCTGCAGGGCCATGGAGG	0.652																																							uc002ulv.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(241-243)AGG>AGT		RNA binding motif protein 45							53.0	53.0	53.0					2																	178977516		2203	4300	6503	SO:0001583	missense	129831				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr2:178977516G>T	AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"""RNA binding motif (RRM) containing"""	24468	protein-coding gene	gene with protein product	"""developmentally regulated RNA binding protein 1"""	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.243G>T	2.37:g.178977516G>T	ENSP00000286070:p.Arg81Ser						p.R81S	NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)		1	335	+			81			RRM 1.		Q6NYL0|Q8NFC9	Missense_Mutation	SNP	ENST00000286070.5	37	c.243G>T	CCDS33335.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.028801	0.54790	.	.	ENSG00000155636	ENST00000286070	T	0.16196	2.36	4.73	4.73	0.59995	.	0.347894	0.29956	N	0.010767	T	0.18045	0.0433	L	0.48877	1.53	0.48185	D	0.999604	B	0.32829	0.386	B	0.28011	0.085	T	0.04307	-1.0961	10	0.66056	D	0.02	-5.5257	17.0747	0.86583	0.0:0.0:1.0:0.0	.	81	Q8IUH3-3	.	S	81	ENSP00000286070:R81S	ENSP00000286070:R81S	R	+	3	2	RBM45	178685762	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.705000	0.37867	2.335000	0.79485	0.563000	0.77884	AGG		0.652	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	NM_152945		25	79	1	0	1.77063e-15	0.005443	2.63754e-15	25	79				
TTN	7273	broad.mit.edu	37	2	179427841	179427841	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:179427841G>A	ENST00000591111.1	-	276	78319	c.78095C>T	c.(78094-78096)cCa>cTa	p.P26032L	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P18608L|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P25105L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P18800L|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P18733L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P27673L			Q8WZ42	TITIN_HUMAN	titin	26032	Ig-like 126.				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.P18800L(2)|p.P25105L(2)|p.P18733L(2)|p.P25103L(2)|p.P18608L(2)		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)			TTCTATTTCTGGTGGCTCTAT	0.463																																							uc010zfg.1		NA																	10	Substitution - Missense(10)		lung(10)	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.(75313-75315)CCA>CTA		titin isoform N2-A							169.0	167.0	168.0					2																	179427841		1944	4152	6096	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179427841G>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.78095C>T	2.37:g.179427841G>A	ENSP00000465570:p.Pro26032Leu					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P18800L|TTN_uc010zfi.1_Missense_Mutation_p.P18733L|TTN_uc010zfj.1_Missense_Mutation_p.P18608L	p.P25105L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	75538	-			26032					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.75314C>T		.	.	.	.	.	.	.	.	.	.	G	20.3	3.960475	0.74016	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67865	-0.29;-0.12;-0.14;-0.12	5.73	5.73	0.89815	Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88503	0.6454	H	0.96111	3.77	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.997;0.997	D	0.91462	0.5190	9	0.87932	D	0	.	19.9085	0.97016	0.0:0.0:1.0:0.0	.	18608;18733;18800;26032	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	25105;18608;18800;18733;18606	ENSP00000343764:P25105L;ENSP00000434586:P18608L;ENSP00000340554:P18800L;ENSP00000352154:P18733L	ENSP00000340554:P18800L	P	-	2	0	TTN	179136087	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.723000	0.93209	0.561000	0.74099	CCA		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		72	224	0	0	0	0.00361	0	72	224				
TTN	7273	broad.mit.edu	37	2	179433781	179433781	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:179433781A>C	ENST00000591111.1	-	276	72379	c.72155T>G	c.(72154-72156)aTt>aGt	p.I24052S	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I16628S|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I23125S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I16820S|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I16753S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I25693S			Q8WZ42	TITIN_HUMAN	titin	24052	Fibronectin type-III 74. {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.I23123S(2)|p.I23125S(2)|p.I16628S(2)|p.I16753S(2)|p.I16820S(2)		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)			TGCAACCTTAATTGGATCAGC	0.443																																							uc010zfg.1		NA																	10	Substitution - Missense(10)		lung(10)	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.(69373-69375)ATT>AGT		titin isoform N2-A							156.0	149.0	151.0					2																	179433781		1975	4164	6139	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179433781A>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.72155T>G	2.37:g.179433781A>C	ENSP00000465570:p.Ile24052Ser					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I16820S|TTN_uc010zfi.1_Missense_Mutation_p.I16753S|TTN_uc010zfj.1_Missense_Mutation_p.I16628S	p.I23125S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	69598	-			24052					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.69374T>G		.	.	.	.	.	.	.	.	.	.	A	12.65	2.001899	0.35320	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.93	5.93	0.95920	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61035	0.2315	M	0.89534	3.04	0.45806	D	0.998687	B;B;B;B	0.27380	0.177;0.177;0.177;0.058	B;B;B;B	0.31547	0.132;0.132;0.132;0.057	T	0.65360	-0.6187	9	0.87932	D	0	.	16.3709	0.83357	1.0:0.0:0.0:0.0	.	16628;16753;16820;24052	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	23125;16628;16820;16753;16626	ENSP00000343764:I23125S;ENSP00000434586:I16628S;ENSP00000340554:I16820S;ENSP00000352154:I16753S	ENSP00000340554:I16820S	I	-	2	0	TTN	179142027	1.000000	0.71417	0.974000	0.42286	0.998000	0.95712	9.339000	0.96797	2.261000	0.74972	0.528000	0.53228	ATT		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		48	136	0	0	0	0.003214	0	48	136				
TTN	7273	broad.mit.edu	37	2	179452755	179452755	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:179452755G>C	ENST00000591111.1	-	255	58680	c.58456C>G	c.(58456-58458)Cgc>Ggc	p.R19486G	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R12062G|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R18559G|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R12254G|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R12187G|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R21127G			Q8WZ42	TITIN_HUMAN	titin	19486	Fibronectin type-III 41. {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.R18559G(2)|p.R12187G(2)|p.R18557G(2)|p.R12062G(2)|p.R12254G(2)		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)			AATTCCTTGCGTACAAGCTGT	0.473																																							uc010zfg.1		NA																	10	Substitution - Missense(10)		lung(10)	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.(55675-55677)CGC>GGC		titin isoform N2-A							91.0	87.0	88.0					2																	179452755		1960	4158	6118	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179452755G>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.58456C>G	2.37:g.179452755G>C	ENSP00000465570:p.Arg19486Gly					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R12254G|TTN_uc010zfi.1_Missense_Mutation_p.R12187G|TTN_uc010zfj.1_Missense_Mutation_p.R12062G	p.R18559G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		254	55899	-			19486					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.55675C>G		.	.	.	.	.	.	.	.	.	.	G	11.40	1.628291	0.28978	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	6.05	6.05	0.98169	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39682	0.1087	N	0.05574	-0.02	0.37354	D	0.91093	B;B;B;B	0.32283	0.362;0.362;0.362;0.362	B;B;B;B	0.32465	0.146;0.146;0.146;0.126	T	0.49588	-0.8924	9	0.87932	D	0	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	12062;12187;12254;19486	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	18559;12062;12254;12187;12060	ENSP00000343764:R18559G;ENSP00000434586:R12062G;ENSP00000340554:R12254G;ENSP00000352154:R12187G	ENSP00000340554:R12254G	R	-	1	0	TTN	179161001	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.906000	0.56340	2.878000	0.98634	0.650000	0.86243	CGC		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	62	0	0	0	0.00308	0	8	62				
TTN	7273	broad.mit.edu	37	2	179565924	179565924	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:179565924G>T	ENST00000591111.1	-	109	29878	c.29654C>A	c.(29653-29655)cCt>cAt	p.P9885H	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P8958H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.P10202H			Q8WZ42	TITIN_HUMAN	titin	33619	Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P8958H(2)		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)			AACCACAGGAGGGATTTCTGA	0.368																																							uc010zfg.1		NA																	2	Substitution - Missense(2)		lung(2)	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.(26872-26874)CCT>CAT		titin isoform N2-A							165.0	164.0	165.0					2																	179565924		1822	4088	5910	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179565924G>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.29654C>A	2.37:g.179565924G>T	ENSP00000465570:p.Pro9885His					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P5619H|TTN_uc010fre.1_Missense_Mutation_p.P69H	p.P8958H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		108	27097	-			9885					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.26873C>A		.	.	.	.	.	.	.	.	.	.	G	14.73	2.621255	0.46736	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	T	0.63580	-0.05	5.81	5.81	0.92471	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.76321	0.3971	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.994;0.999	T	0.77552	-0.2545	9	0.87932	D	0	.	15.584	0.76468	0.0:0.0:1.0:0.0	.	9885;9885	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	H	8958;80	ENSP00000343764:P8958H	ENSP00000343764:P8958H	P	-	2	0	TTN	179274169	1.000000	0.71417	0.973000	0.42090	0.570000	0.35934	3.283000	0.51701	2.741000	0.93983	0.655000	0.94253	CCT		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		48	141	1	0	6.31075e-24	0.00361	1.09535e-23	48	141				
TTN	7273	broad.mit.edu	37	2	179567349	179567349	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:179567349C>A	ENST00000591111.1	-	105	29538	c.29314G>T	c.(29314-29316)Gtg>Ttg	p.V9772L	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V8845L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.V10089L			Q8WZ42	TITIN_HUMAN	titin	13850	Ig-like 79.				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.V8845L(2)		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)			TGCTCACTCACCACGATGTTC	0.403																																							uc010zfg.1		NA																	2	Substitution - Missense(2)		lung(2)	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.(26533-26535)GTG>TTG		titin isoform N2-A							144.0	139.0	141.0					2																	179567349		2005	4172	6177	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179567349C>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.29314G>T	2.37:g.179567349C>A	ENSP00000465570:p.Val9772Leu					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V5506L|TTN_uc010fre.1_5'UTR	p.V8845L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		104	26757	-			9772					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.26533G>T		.	.	.	.	.	.	.	.	.	.	C	19.57	3.852610	0.71719	.	.	ENSG00000155657	ENST00000342992	T	0.70986	-0.53	5.84	5.84	0.93424	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85847	0.5792	M	0.80746	2.51	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.86633	0.1887	9	0.87932	D	0	.	20.139	0.98050	0.0:1.0:0.0:0.0	.	9772	Q8WZ42	TITIN_HUMAN	L	8845	ENSP00000343764:V8845L	ENSP00000343764:V8845L	V	-	1	0	TTN	179275594	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.818000	0.86416	2.764000	0.94973	0.655000	0.94253	GTG		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		39	96	1	0	8.73648e-17	0.004289	1.33937e-16	39	96				
ZNF804A	91752	broad.mit.edu	37	2	185803686	185803686	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:185803686C>A	ENST00000302277.6	+	4	4157	c.3563C>A	c.(3562-3564)cCc>cAc	p.P1188H		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1188							metal ion binding (GO:0046872)	p.P1188H(2)		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						CCATCTTTACCCCATGCACTC	0.473																																							uc002uph.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(3562-3564)CCC>CAC		zinc finger protein 804A							287.0	247.0	261.0					2																	185803686		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185803686C>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.3563C>A	2.37:g.185803686C>A	ENSP00000303252:p.Pro1188His						p.P1188H	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	4157	+			1188					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.3563C>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.594771	0.46318	.	.	ENSG00000170396	ENST00000302277	T	0.24350	1.86	5.13	5.13	0.70059	.	0.128104	0.35646	N	0.003080	T	0.52869	0.1761	M	0.74881	2.28	0.48511	D	0.999669	D	0.89917	1.0	D	0.79108	0.992	T	0.57711	-0.7764	10	0.87932	D	0	-10.9617	17.579	0.87960	0.0:1.0:0.0:0.0	.	1188	Q7Z570	Z804A_HUMAN	H	1188	ENSP00000303252:P1188H	ENSP00000303252:P1188H	P	+	2	0	ZNF804A	185511931	0.995000	0.38212	0.650000	0.29550	0.332000	0.28634	4.100000	0.57762	2.382000	0.81193	0.313000	0.20887	CCC		0.473	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		37	288	1	0	1.26612e-14	0.003271	1.85446e-14	37	288				
COL3A1	1281	broad.mit.edu	37	2	189859297	189859297	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:189859297G>T	ENST00000304636.3	+	19	1494	c.1324G>T	c.(1324-1326)Gag>Tag	p.E442*	COL3A1_ENST00000317840.5_Nonsense_Mutation_p.E442*	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	442	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.E442*(2)		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)	TGCCAAAGGAGAGCCCGGACC	0.398																																							uc002uqj.1		NA																	2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(1324-1326)GAG>TAG		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						104.0	103.0	103.0					2																	189859297		2203	4300	6503	SO:0001587	stop_gained	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.chr2:189859297G>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1324G>T	2.37:g.189859297G>T	ENSP00000304408:p.Glu442*						p.E442*	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		19	1441	+			442			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Nonsense_Mutation	SNP	ENST00000304636.3	37	c.1324G>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	39	7.700136	0.98441	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	.	.	.	6.17	6.17	0.99709	.	0.243373	0.28712	N	0.014383	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	442	.	ENSP00000304408:E442X	E	+	1	0	COL3A1	189567542	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.550000	0.98110	2.941000	0.99782	0.655000	0.94253	GAG		0.398	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		16	69	1	0	3.41278e-10	0.00499	4.27547e-10	16	69				
COL5A2	1290	broad.mit.edu	37	2	189929366	189929366	+	Silent	SNP	G	G	T	rs145258293	byFrequency	TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:189929366G>T	ENST00000374866.3	-	25	1907	c.1633C>A	c.(1633-1635)Cgg>Agg	p.R545R		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	545					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.R545R(2)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACAGGACCCCGTTCTCCTTGA	0.478																																							uc002uqk.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(1633-1635)CGG>AGG		alpha 2 type V collagen preproprotein							51.0	54.0	53.0					2																	189929366		2203	4300	6503	SO:0001819	synonymous_variant	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189929366G>T	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1633C>A	2.37:g.189929366G>T						COL5A2_uc010frx.2_Silent_p.R121R	p.R545R	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		25	1908	-			545					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Silent	SNP	ENST00000374866.3	37	c.1633C>A	CCDS33350.1																																																																																				0.478	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		17	102	1	0	3.52763e-06	0.00499	3.92623e-06	17	102				
C2orf88	84281	broad.mit.edu	37	2	190788271	190788271	+	Intron	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:190788271G>A	ENST00000478197.1	+	1	219							Q9BSF0	SMAKA_HUMAN	chromosome 2 open reading frame 88							plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(1)	3						TAGCAGGAGAGGATGGCAGAA	0.478																																							uc002uro.2		NA																	0					NA						c.(208-210)GAG>GAA		SubName: Full=cDNA FLJ54127, highly similar to Heterogeneous nuclear ribonucleoproteins C;																																				SO:0001627	intron_variant	0							g.chr2:190788271G>A	BC005083	CCDS42792.1	2q32.2	2014-02-12	2009-04-08		ENSG00000187699	ENSG00000187699			28191	protein-coding gene	gene with protein product	"""small membrane AKAP"""	615117				23996002	Standard	NM_032321		Approved	MGC13057, smAKAP	uc002urt.3	Q9BSF0	OTTHUMG00000154361	ENST00000478197.1:c.219+43718G>A	2.37:g.190788271G>A							p.E70E							1	353	+								D3DPI3|P0C876|Q53TC7	Silent	SNP	ENST00000478197.1	37	c.210G>A																																																																																					0.478	C2orf88-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000334952.1	NM_032321		36	78	0	0	0	0.004878	0	36	78				
SF3B1	23451	broad.mit.edu	37	2	198265001	198265001	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:198265001G>A	ENST00000335508.6	-	19	2967	c.2876C>T	c.(2875-2877)gCt>gTt	p.A959V	SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	959					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.A959V(2)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CATGACAACAGCAGTTCGAGA	0.348			Mis		myelodysplastic syndrome																																		uc002uue.2		NA		Dom	yes		2	2q33.1	23451		"""splicing factor 3b, subunit 1, 155kDa"""			L					2	Substitution - Missense(2)		lung(2)	pancreas(3)|ovary(1)|breast(1)|skin(1)	6						c.(2875-2877)GCT>GTT		splicing factor 3b, subunit 1 isoform 1							100.0	99.0	100.0					2																	198265001		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198265001G>A	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2876C>T	2.37:g.198265001G>A	ENSP00000335321:p.Ala959Val						p.A959V	NM_012433	NP_036565	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		19	2924	-			959					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.2876C>T	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686674	0.88639	.	.	ENSG00000115524	ENST00000335508	T	0.65549	-0.16	5.35	5.35	0.76521	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.82010	0.4944	M	0.89534	3.04	0.80722	D	1	D	0.57899	0.981	P	0.60949	0.881	D	0.84190	0.0444	10	0.56958	D	0.05	.	19.6142	0.95626	0.0:0.0:1.0:0.0	.	959	O75533	SF3B1_HUMAN	V	959	ENSP00000335321:A959V	ENSP00000335321:A959V	A	-	2	0	SF3B1	197973246	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.490000	0.97952	2.941000	0.99782	0.655000	0.94253	GCT		0.348	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			42	100	0	0	0	0.007835	0	42	100				
SATB2	23314	broad.mit.edu	37	2	200298195	200298195	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:200298195C>A	ENST00000417098.1	-	3	1028	c.212G>T	c.(211-213)gGc>gTc	p.G71V	SATB2_ENST00000260926.5_Missense_Mutation_p.G71V|SATB2_ENST00000443023.1_Intron|SATB2_ENST00000457245.1_Missense_Mutation_p.G71V|SATB2_ENST00000428695.1_Missense_Mutation_p.G71V	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	71					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.G71V(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTCAAGAGAGCCGTCCAACTG	0.473																																					Colon(30;262 767 11040 24421 36230)	Colon(30;262 767 11040 24421 36230)	uc002uuy.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(211-213)GGC>GTC		SATB homeobox 2							111.0	110.0	110.0					2																	200298195		2203	4300	6503	SO:0001583	missense	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200298195C>A	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.212G>T	2.37:g.200298195C>A	ENSP00000401112:p.Gly71Val					SATB2_uc010fsq.1_Missense_Mutation_p.G71V|SATB2_uc002uuz.1_Missense_Mutation_p.G71V|SATB2_uc002uva.1_Missense_Mutation_p.G71V	p.G71V	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN			3	1029	-			71					A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	c.212G>T	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697550	0.48307	.	.	ENSG00000119042	ENST00000417098;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.86	5.86	0.93980	.	0.336513	0.30565	N	0.009359	T	0.31765	0.0807	N	0.12182	0.205	0.58432	D	0.999999	B;B	0.18013	0.025;0.0	B;B	0.21708	0.036;0.0	T	0.09422	-1.0675	10	0.32370	T	0.25	-8.4982	13.9617	0.64185	0.0:0.8044:0.1956:0.0	.	71;71	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	V	71	ENSP00000401112:G71V;ENSP00000260926:G71V;ENSP00000388581:G71V;ENSP00000405420:G71V	ENSP00000260926:G71V	G	-	2	0	SATB2	200006440	0.999000	0.42202	0.991000	0.47740	0.996000	0.88848	3.974000	0.56852	2.777000	0.95525	0.655000	0.94253	GGC		0.473	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		36	120	1	0	4.65686e-17	0.003755	7.18123e-17	36	120				
DYTN	391475	broad.mit.edu	37	2	207528121	207528121	+	Splice_Site	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:207528121T>A	ENST00000452335.2	-	11	1257		c.e11-2			NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin							plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.?(4)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CAACCTTGCCTGGGGAAACAA	0.378																																							uc002vbr.1		NA																	4	Unknown(4)		lung(4)	ovary(1)|central_nervous_system(1)	2						c.e11-1		dystrotelin							34.0	34.0	34.0					2																	207528121		1837	4094	5931	SO:0001630	splice_region_variant	391475					plasma membrane	zinc ion binding	g.chr2:207528121T>A	ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.1141-2A>T	2.37:g.207528121T>A							p.A381_splice	NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)	11	1258	-									Splice_Site	SNP	ENST00000452335.2	37	c.1141_splice	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	T	8.400	0.841804	0.16963	.	.	ENSG00000232125	ENST00000452335	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1255	0.48315	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DYTN	207236366	0.961000	0.32948	0.498000	0.27564	0.013000	0.08279	3.594000	0.54008	2.193000	0.70182	0.528000	0.53228	.		0.378	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1		Intron	12	32	0	0	0	0.001368	0	12	32				
ACADL	33	broad.mit.edu	37	2	211085421	211085421	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:211085421C>G	ENST00000233710.3	-	2	410	c.183G>C	c.(181-183)cgG>cgC	p.R61R	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	61					carnitine catabolic process (GO:0042413)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid catabolic process (GO:0044242)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|long-chain fatty acid catabolic process (GO:0042758)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|palmitoyl-CoA oxidase activity (GO:0016401)	p.R61R(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		TTACACTTTTCCGGAAAATGT	0.383																																							uc002vdz.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(181-183)CGG>CGC		long-chain acyl-CoA dehydrogenase precursor							109.0	111.0	110.0					2																	211085421		2203	4299	6502	SO:0001819	synonymous_variant	33				carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity	g.chr2:211085421C>G	M74096	CCDS2389.1	2q34	2012-07-13	2010-04-30		ENSG00000115361	ENSG00000115361	1.3.99.13		88	protein-coding gene	gene with protein product		609576	"""acyl-Coenzyme A dehydrogenase, long chain"""			1774065	Standard	NM_001608		Approved	LCAD, ACAD4	uc002vdz.4	P28330	OTTHUMG00000132989	ENST00000233710.3:c.183G>C	2.37:g.211085421C>G						ACADL_uc010zjg.1_Silent_p.R61R	p.R61R	NM_001608	NP_001599	P28330	ACADL_HUMAN		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)	2	411	-		Renal(323;0.202)	61					B2R8T3|Q8IUN8	Silent	SNP	ENST00000233710.3	37	c.183G>C	CCDS2389.1																																																																																				0.383	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256561.2	NM_001608		36	92	0	0	0	0.003755	0	36	92				
ZFAND2B	130617	broad.mit.edu	37	2	220073185	220073185	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:220073185G>A	ENST00000289528.5	+	6	760	c.565G>A	c.(565-567)Gtg>Atg	p.V189M	ZFAND2B_ENST00000444522.2_Missense_Mutation_p.V189M|ZFAND2B_ENST00000409217.1_Missense_Mutation_p.V189M|ZFAND2B_ENST00000409594.1_3'UTR|ZFAND2B_ENST00000409097.1_Missense_Mutation_p.V189M|ZFAND2B_ENST00000409336.1_Missense_Mutation_p.V189M|ZFAND2B_ENST00000409206.1_3'UTR	NM_001270998.1|NM_001270999.1|NM_138802.2	NP_001257927.1|NP_001257928.1|NP_620157.1	Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	189						endoplasmic reticulum (GO:0005783)	zinc ion binding (GO:0008270)	p.V189M(2)		endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCCCCTCCAGTGATTGCTTT	0.542																																							uc002vka.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(565-567)GTG>ATG		zinc finger, AN1-type domain 2B							122.0	118.0	119.0					2																	220073185		2203	4300	6503	SO:0001583	missense	130617					endoplasmic reticulum	protein binding|zinc ion binding	g.chr2:220073185G>A	AK074571	CCDS2435.1, CCDS74656.1	2q35	2010-04-23	2005-08-22		ENSG00000158552	ENSG00000158552		"""Zinc fingers, AN1-type domain containing"""	25206	protein-coding gene	gene with protein product	"""arsenite inducible RNA associated protein-like"""	613474	"""zinc finger, AN1-type 2B"""			18467495	Standard	NM_138802		Approved	AIRAPL	uc002vka.4	Q8WV99	OTTHUMG00000133135	ENST00000289528.5:c.565G>A	2.37:g.220073185G>A	ENSP00000289528:p.Val189Met					ZFAND2B_uc010zkt.1_Missense_Mutation_p.V189M|ZFAND2B_uc010fwd.1_3'UTR|ZFAND2B_uc002vjy.1_Missense_Mutation_p.V189M|ZFAND2B_uc002vjz.1_3'UTR|ZFAND2B_uc002vkb.1_Missense_Mutation_p.V80M	p.V189M	NM_138802	NP_620157	Q8WV99	ZFN2B_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	737	+		Renal(207;0.0915)	189					Q8NB98	Missense_Mutation	SNP	ENST00000289528.5	37	c.565G>A	CCDS2435.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833949	0.50951	.	.	ENSG00000158552	ENST00000289528;ENST00000422255;ENST00000409097;ENST00000409336;ENST00000409217;ENST00000444522	T;T;T;T;T;T	0.47528	0.91;0.85;0.84;0.91;0.9;0.84	4.47	4.47	0.54385	.	0.392142	0.26776	N	0.022545	T	0.56543	0.1992	L	0.47716	1.5	0.36464	D	0.866852	D;D;D	0.67145	0.99;0.966;0.996	P;B;P	0.59703	0.804;0.428;0.862	T	0.57112	-0.7867	10	0.27785	T	0.31	-8.7209	16.1867	0.81959	0.0:0.0:1.0:0.0	.	80;189;189	B3KQB0;Q8WV99;B4DEN4	.;ZFN2B_HUMAN;.	M	189	ENSP00000289528:V189M;ENSP00000409931:V189M;ENSP00000387179:V189M;ENSP00000386898:V189M;ENSP00000386370:V189M;ENSP00000411334:V189M	ENSP00000289528:V189M	V	+	1	0	ZFAND2B	219781429	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.683000	0.61679	2.775000	0.95449	0.655000	0.94253	GTG		0.542	ZFAND2B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256824.2	NM_138802		21	151	0	0	0	0.002299	0	21	151				
DAW1	164781	broad.mit.edu	37	2	228771916	228771916	+	Silent	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:228771916A>T	ENST00000309931.2	+	10	1004	c.921A>T	c.(919-921)ctA>ctT	p.L307L	DAW1_ENST00000545118.1_Silent_p.L292L|DAW1_ENST00000373666.2_Silent_p.L307L	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	307						cilium (GO:0005929)		p.L307L(2)									ATGAAATACTAGACAGCTGCT	0.353																																							uc002vpn.1		NA																	2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(919-921)CTA>CTT		WD repeat domain 69							151.0	144.0	146.0					2																	228771916		2203	4300	6503	SO:0001819	synonymous_variant	164781							g.chr2:228771916A>T		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.921A>T	2.37:g.228771916A>T						WDR69_uc010zlw.1_Silent_p.L292L|WDR69_uc002vpo.1_RNA	p.L307L	NM_178821	NP_849143	Q8N136	WDR69_HUMAN		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)	10	1000	+		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	307			WD 6.		Q6ZRY1|Q8N776	Silent	SNP	ENST00000309931.2	37	c.921A>T	CCDS2470.1																																																																																				0.353	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821		7	45	0	0	0	0.004482	0	7	45				
SPHKAP	80309	broad.mit.edu	37	2	228886442	228886442	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:228886442C>A	ENST00000392056.3	-	6	728	c.682G>T	c.(682-684)Gat>Tat	p.D228Y	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D228Y	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	228						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.D228Y(4)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTAGATTCATCCACCTCGCTT	0.443																																							uc002vpq.2		NA																	4	Substitution - Missense(4)		lung(4)	skin(5)|ovary(4)|lung(1)	10						c.(682-684)GAT>TAT		sphingosine kinase type 1-interacting protein							90.0	93.0	92.0					2																	228886442		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228886442C>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.682G>T	2.37:g.228886442C>A	ENSP00000375909:p.Asp228Tyr					SPHKAP_uc002vpp.2_Missense_Mutation_p.D228Y|SPHKAP_uc010zlx.1_Missense_Mutation_p.D228Y	p.D228Y	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	6	729	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	228					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.682G>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955234	0.53293	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.15372	2.43;2.43	5.72	5.72	0.89469	.	0.208166	0.48767	D	0.000166	T	0.34716	0.0907	L	0.39898	1.24	0.52099	D	0.99994	D;D	0.71674	0.997;0.998	P;D	0.66716	0.819;0.946	T	0.01771	-1.1277	10	0.72032	D	0.01	.	18.8743	0.92328	0.0:1.0:0.0:0.0	.	228;228	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	Y	228	ENSP00000375909:D228Y;ENSP00000339886:D228Y	ENSP00000339886:D228Y	D	-	1	0	SPHKAP	228594686	1.000000	0.71417	0.998000	0.56505	0.063000	0.16089	7.194000	0.77789	2.711000	0.92665	0.655000	0.94253	GAT		0.443	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		32	79	1	0	3.99451e-17	0.009535	6.18403e-17	32	79				
GPR55	9290	broad.mit.edu	37	2	231775240	231775240	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:231775240C>A	ENST00000392040.1	-	2	630	c.438G>T	c.(436-438)tgG>tgT	p.W146C	GPR55_ENST00000392039.2_Missense_Mutation_p.W146C|AC012507.4_ENST00000454890.1_RNA	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	146					activation of phospholipase C activity (GO:0007202)|bone resorption (GO:0045453)|cannabinoid signaling pathway (GO:0038171)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho protein signal transduction (GO:0035025)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|G-protein coupled receptor activity (GO:0004930)	p.W146C(2)		endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		ACACCAGGACCCAGATGGTGC	0.542																																							uc002vrg.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(436-438)TGG>TGT		G protein-coupled receptor 55							68.0	70.0	69.0					2																	231775240		2203	4300	6503	SO:0001583	missense	9290				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity	g.chr2:231775240C>A	AF096786	CCDS2480.1	2q37	2012-08-21			ENSG00000135898	ENSG00000135898		"""GPCR / Class A : Orphans"""	4511	protein-coding gene	gene with protein product		604107				9931487	Standard	NM_005683		Approved		uc002vrg.3	Q9Y2T6	OTTHUMG00000133224	ENST00000392040.1:c.438G>T	2.37:g.231775240C>A	ENSP00000375894:p.Trp146Cys					GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Missense_Mutation_p.W146C	p.W146C	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)	2	631	-		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)	146			Helical; Name=4; (Potential).		Q8N580	Missense_Mutation	SNP	ENST00000392040.1	37	c.438G>T	CCDS2480.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167464	0.78339	.	.	ENSG00000135898	ENST00000392040;ENST00000392039;ENST00000438398	D;D;D	0.88818	-2.43;-2.43;-2.43	5.65	5.65	0.86999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.95072	0.8404	M	0.89658	3.05	0.80722	D	1	D	0.58268	0.982	P	0.62435	0.902	D	0.95692	0.8741	10	0.87932	D	0	-23.3602	17.2336	0.86991	0.0:1.0:0.0:0.0	.	146	Q9Y2T6	GPR55_HUMAN	C	146	ENSP00000375894:W146C;ENSP00000375893:W146C;ENSP00000412768:W146C	ENSP00000375893:W146C	W	-	3	0	GPR55	231483484	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.924000	0.63418	2.660000	0.90430	0.655000	0.94253	TGG		0.542	GPR55-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332618.1	NM_005683		43	98	1	0	1.57019e-19	0.007835	2.53548e-19	43	98				
C2orf57	165100	broad.mit.edu	37	2	232457748	232457748	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:232457748C>G	ENST00000313965.2	+	1	174	c.86C>G	c.(85-87)cCa>cGa	p.P29R		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	29								p.P29R(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		GGTCAGGTCCCACTCACAGCA	0.607																																							uc002vrz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(85-87)CCA>CGA		hypothetical protein LOC165100							96.0	91.0	93.0					2																	232457748		2203	4300	6503	SO:0001583	missense	165100							g.chr2:232457748C>G	BC034405	CCDS2487.1	2q37.1	2008-02-05			ENSG00000177673	ENSG00000177673			28563	protein-coding gene	gene with protein product						12477932	Standard	NM_152614		Approved	MGC35154	uc002vrz.3	Q53QW1	OTTHUMG00000133226	ENST00000313965.2:c.86C>G	2.37:g.232457748C>G	ENSP00000315557:p.Pro29Arg						p.P29R	NM_152614	NP_689827	Q53QW1	CB057_HUMAN		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)	1	137	+		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)	29					Q8N4F2	Missense_Mutation	SNP	ENST00000313965.2	37	c.86C>G	CCDS2487.1	.	.	.	.	.	.	.	.	.	.	c	14.24	2.475602	0.43942	.	.	ENSG00000177673	ENST00000313965	T	0.20881	2.04	3.42	0.43	0.16515	.	1.368680	0.05585	N	0.573560	T	0.15349	0.0370	L	0.27053	0.805	0.09310	N	1	P	0.37573	0.6	B	0.39379	0.298	T	0.26292	-1.0107	10	0.51188	T	0.08	.	3.0173	0.06064	0.0:0.4841:0.2396:0.2763	.	29	Q53QW1	CB057_HUMAN	R	29	ENSP00000315557:P29R	ENSP00000315557:P29R	P	+	2	0	C2orf57	232165992	0.000000	0.05858	0.000000	0.03702	0.339000	0.28857	-0.342000	0.07801	0.244000	0.21351	0.563000	0.77884	CCA		0.607	C2orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256962.1	NM_152614		27	137	0	0	0	0.005443	0	27	137				
CHRNG	1146	broad.mit.edu	37	2	233406159	233406159	+	Silent	SNP	G	G	A	rs375894671		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:233406159G>A	ENST00000389494.3	+	5	447	c.426G>A	c.(424-426)ccG>ccA	p.P142P	CHRNG_ENST00000389492.3_Intron	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	142					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)	p.P142P(2)		breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		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;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	ACTGGCTGCCGCCTGCCATCT	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		15864	0.0		0.001	False		,,,				2504	0.0						uc002vsx.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(424-426)CCG>CCA		cholinergic receptor, nicotinic, gamma		G		0,4406		0,0,2203	202.0	163.0	176.0		426	-9.5	0.4	2		176	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CHRNG	NM_005199.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		142/518	233406159	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1146				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	g.chr2:233406159G>A	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.426G>A	2.37:g.233406159G>A						CHRNG_uc010fyd.2_Silent_p.P142P|CHRNG_uc010fye.1_Intron	p.P142P	NM_005199	NP_005190	P07510	ACHG_HUMAN		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	5	447	+		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)	142			Extracellular (Potential).		B3KWM8|Q14DU4|Q53RG2	Silent	SNP	ENST00000389494.3	37	c.426G>A	CCDS33400.1																																																																																				0.577	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1	NM_005199		20	110	0	0	0	0.00333	0	20	110				
HJURP	55355	broad.mit.edu	37	2	234750371	234750372	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:234750371_234750372CC>AA	ENST00000411486.2	-	8	1119_1120	c.1054_1055GG>TT	c.(1054-1056)GGt>TTt	p.G352F	HJURP_ENST00000441687.1_Missense_Mutation_p.G267F|HJURP_ENST00000434039.1_5'Flank|HJURP_ENST00000432087.1_Missense_Mutation_p.G298F	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	352					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)	p.G352F(2)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		CAATTTTAAACCTGTCTTACGG	0.436																																							uc002vvg.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1054-1056)GGT>TTT		Holliday junction recognition protein																																				SO:0001583	missense	55355				cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	g.chr2:234750371_234750372CC>AA		CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.1054_1055delinsAA	2.37:g.234750371_234750372delinsAA	ENSP00000414109:p.Gly352Phe					HJURP_uc010znd.1_Missense_Mutation_p.G291F|HJURP_uc010zne.1_Missense_Mutation_p.G260F	p.G352F	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)	8	1120_1121	-		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)	352					A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	DNP	ENST00000411486.2	37	c.1054_1055GG>TT	CCDS33406.1																																																																																				0.436	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130996.6	NM_018410		8	79	0	0	0	0.004672	0	8	79				
PER2	8864	broad.mit.edu	37	2	239164502	239164502	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:239164502C>A	ENST00000254657.3	-	18	2395	c.2116G>T	c.(2116-2118)Ggc>Tgc	p.G706C	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	706	CSNK1E binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)	p.G706C(2)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		AGGGCAGGGCCCGCCAGGCAG	0.587																																							uc002vyc.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|breast(1)	2						c.(2116-2118)GGC>TGC		period 2							77.0	86.0	83.0					2																	239164502		2203	4300	6503	SO:0001583	missense	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239164502C>A	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.2116G>T	2.37:g.239164502C>A	ENSP00000254657:p.Gly706Cys					PER2_uc010znv.1_Missense_Mutation_p.G706C	p.G706C	NM_022817	NP_073728	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	18	2353	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	706			CSNK1E binding domain (By similarity).		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.2116G>T	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.064878	0.36470	.	.	ENSG00000132326	ENST00000254657	T	0.11277	2.79	3.65	3.65	0.41850	.	0.722697	0.13874	N	0.356800	T	0.28134	0.0694	L	0.53249	1.67	0.19775	N	0.99996	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.922	T	0.03335	-1.1047	10	0.66056	D	0.02	-27.3625	13.1967	0.59743	0.0:1.0:0.0:0.0	.	706;706	B4DH14;O15055	.;PER2_HUMAN	C	706	ENSP00000254657:G706C	ENSP00000254657:G706C	G	-	1	0	PER2	238829241	0.075000	0.21258	0.222000	0.23844	0.036000	0.12997	1.619000	0.36965	1.735000	0.51646	0.555000	0.69702	GGC		0.587	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		36	185	1	0	2.75727e-19	0.004878	4.42511e-19	36	185				
FARP2	9855	broad.mit.edu	37	2	242402803	242402803	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:242402803G>T	ENST00000264042.3	+	16	1901	c.1731G>T	c.(1729-1731)acG>acT	p.T577T	FARP2_ENST00000373287.4_Silent_p.T577T|FARP2_ENST00000545004.1_Silent_p.T577T	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	577	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T577T(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CTCTGATGACGCTGCTCTTCT	0.597																																							uc002wbi.1		NA																	2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1729-1731)ACG>ACT		FERM, RhoGEF and pleckstrin domain protein 2							140.0	111.0	121.0					2																	242402803		2203	4300	6503	SO:0001819	synonymous_variant	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242402803G>T	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.1731G>T	2.37:g.242402803G>T						FARP2_uc010zoq.1_Silent_p.T577T|FARP2_uc010zor.1_Silent_p.T577T	p.T577T	NM_014808	NP_055623	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	16	1848	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	577			DH.		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Silent	SNP	ENST00000264042.3	37	c.1731G>T	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	g	7.693	0.691520	0.15039	.	.	ENSG00000006607	ENST00000422951	.	.	.	5.25	-3.13	0.05266	.	.	.	.	.	T	0.50463	0.1617	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47812	-0.9088	4	.	.	.	.	6.9358	0.24466	0.2686:0.2092:0.4608:0.0615	.	.	.	.	L	18	.	.	R	+	2	0	FARP2	242051476	0.000000	0.05858	0.943000	0.38184	0.627000	0.37826	-2.587000	0.00902	-0.326000	0.08564	-2.367000	0.00236	CGC		0.597	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			25	76	1	0	4.16121e-05	0.00278	4.48568e-05	25	76				
PROKR2	128674	broad.mit.edu	37	20	5294629	5294629	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:5294629G>T	ENST00000217270.3	-	1	386	c.387C>A	c.(385-387)gcC>gcA	p.A129A	PROKR2_ENST00000546004.1_Silent_p.A129A	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	129					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.A129A(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AGTTGACGGAGGCACAGAGCA	0.607										HNSCC(71;0.22)																													uc010zqw.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(385-387)GCC>GCA		prokineticin receptor 2							125.0	94.0	104.0					20																	5294629		2203	4300	6503	SO:0001819	synonymous_variant	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5294629G>T	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.387C>A	20.37:g.5294629G>T		HNSCC(71;0.22)				PROKR2_uc010zqx.1_Silent_p.A129A|PROKR2_uc010zqy.1_Silent_p.A129A|uc002wly.1_5'Flank	p.A129A	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN			1	387	-			129			Extracellular (Potential).		A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Silent	SNP	ENST00000217270.3	37	c.387C>A	CCDS13089.1																																																																																				0.607	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		18	44	1	0	9.16793e-09	0.00499	1.0946e-08	18	44				
SEL1L2	80343	broad.mit.edu	37	20	13912364	13912364	+	Silent	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:13912364T>A	ENST00000284951.5	-	3	242	c.168A>T	c.(166-168)acA>acT	p.T56T	SEL1L2_ENST00000378072.5_Silent_p.T56T|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	56						integral component of membrane (GO:0016021)		p.T56T(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CATTACTAGATGTTCTTTGTT	0.279																																							uc010gcf.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(166-168)ACA>ACT		sel-1 suppressor of lin-12-like 2 precursor							79.0	73.0	75.0					20																	13912364		1791	4053	5844	SO:0001819	synonymous_variant	80343					integral to membrane	binding	g.chr20:13912364T>A	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.168A>T	20.37:g.13912364T>A						SEL1L2_uc002woq.3_5'UTR|SEL1L2_uc010zrl.1_Silent_p.T56T|SEL1L2_uc002wor.2_RNA	p.T56T	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN			3	250	-			56			Extracellular (Potential).		B4DXX5	Silent	SNP	ENST00000284951.5	37	c.168A>T																																																																																					0.279	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		20	56	0	0	0	0.007413	0	20	56				
CFAP61	26074	broad.mit.edu	37	20	20269349	20269349	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:20269349A>G	ENST00000245957.5	+	23	2969	c.2893A>G	c.(2893-2895)Acc>Gcc	p.T965A	C20orf26_ENST00000377309.2_Intron	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		965								p.T965A(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TGTGATTGATACCAACTTCCA	0.433																																							uc002wru.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|pancreas(1)	4						c.(2893-2895)ACC>GCC		hypothetical protein LOC26074							191.0	175.0	180.0					20																	20269349		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20269349A>G																												ENST00000245957.5:c.2893A>G	20.37:g.20269349A>G	ENSP00000245957:p.Thr965Ala					C20orf26_uc002wrw.2_Intron	p.T965A	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	23	2969	+			965					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.2893A>G	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	A	8.979	0.974912	0.18736	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.39787	1.06	5.75	0.938	0.19500	.	0.326939	0.33346	N	0.005011	T	0.29355	0.0731	L	0.39898	1.24	0.19775	N	0.999951	B	0.10296	0.003	B	0.10450	0.005	T	0.24297	-1.0164	10	0.15952	T	0.53	.	10.693	0.45882	0.6865:0.0:0.3135:0.0	.	965	Q8NHU2	CT026_HUMAN	A	905;931;965	ENSP00000245957:T965A	ENSP00000245957:T965A	T	+	1	0	C20orf26	20217349	0.008000	0.16893	0.343000	0.25615	0.948000	0.59901	0.609000	0.24238	-0.104000	0.12154	0.528000	0.53228	ACC		0.433	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			58	157	0	0	0	0.00361	0	58	157				
NAPB	63908	broad.mit.edu	37	20	23370621	23370621	+	Missense_Mutation	SNP	G	G	C	rs372440421		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:23370621G>C	ENST00000377026.4	-	7	608	c.523C>G	c.(523-525)Ctt>Gtt	p.L175V	NAPB_ENST00000432543.2_Missense_Mutation_p.L136V|NAPB_ENST00000398425.3_Missense_Mutation_p.L81V|NAPB_ENST00000472855.1_5'UTR	NM_001283018.1|NM_001283020.1|NM_022080.2	NP_001269947.1|NP_001269949.1|NP_071363.1	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, beta	175					intracellular protein transport (GO:0006886)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	extracellular vesicular exosome (GO:0070062)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)		p.L175V(2)		endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					TACTGCTCAAGCTGGGCAGCA	0.398																																							uc002wta.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(523-525)CTT>GTT		N-ethylmaleimide-sensitive factor attachment							93.0	91.0	92.0					20																	23370621		2203	4300	6503	SO:0001583	missense	63908				intracellular protein transport|vesicle-mediated transport	membrane		g.chr20:23370621G>C	AK022817	CCDS13152.1, CCDS63241.1, CCDS63242.1, CCDS74710.1	20p12.3-p11.21	2008-08-01			ENSG00000125814	ENSG00000125814			15751	protein-coding gene	gene with protein product		611270				8455721	Standard	NM_022080		Approved	SNAP-BETA, SNAPB	uc002wta.3	Q9H115	OTTHUMG00000032062	ENST00000377026.4:c.523C>G	20.37:g.23370621G>C	ENSP00000366225:p.Leu175Val					NAPB_uc002wtc.2_Missense_Mutation_p.L81V|NAPB_uc002wtb.2_Missense_Mutation_p.L179V|NAPB_uc002wtd.3_RNA|NAPB_uc010zss.1_Missense_Mutation_p.L62V|NAPB_uc010zst.1_Missense_Mutation_p.L136V	p.L175V	NM_022080	NP_071363	Q9H115	SNAB_HUMAN			7	640	-	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)		175					B4DK44|Q4G0M0|Q4G187|Q5JXF9|Q8N3C4	Missense_Mutation	SNP	ENST00000377026.4	37	c.523C>G	CCDS13152.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388627	0.61956	.	.	ENSG00000125814	ENST00000377026;ENST00000398425;ENST00000432543;ENST00000431864	T;T;T	0.80123	-1.34;-1.34;-1.34	5.35	4.4	0.53042	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000007	D	0.87728	0.6250	M	0.91196	3.185	0.58432	D	0.999998	P;P;P;P	0.50943	0.866;0.753;0.94;0.94	P;P;P;P	0.50570	0.591;0.511;0.644;0.644	D	0.89906	0.4048	10	0.72032	D	0.01	-13.8381	13.1715	0.59602	0.0773:0.0:0.9227:0.0	.	136;81;179;175	B4DK44;Q4G0M0;B4DIV0;Q9H115	.;.;.;SNAB_HUMAN	V	175;81;136;132	ENSP00000366225:L175V;ENSP00000381459:L81V;ENSP00000413600:L136V	ENSP00000366225:L175V	L	-	1	0	NAPB	23318621	1.000000	0.71417	0.992000	0.48379	0.765000	0.43378	1.203000	0.32284	1.259000	0.44117	0.467000	0.42956	CTT		0.398	NAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078317.2	NM_022080		20	104	0	0	0	0.001882	0	20	104				
AHCY	191	broad.mit.edu	37	20	32878562	32878562	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:32878562G>A	ENST00000217426.2	-	6	818	c.741C>T	c.(739-741)atC>atT	p.I247I	AHCY_ENST00000468908.1_5'Flank|AHCY_ENST00000538132.1_Silent_p.I219I	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	247					cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)	p.I247I(2)		endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GCAGTGCGTTGATGGGGTCAA	0.632																																							uc002xai.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(739-741)ATC>ATT		adenosylhomocysteinase isoform 1							116.0	111.0	113.0					20																	32878562		2203	4300	6503	SO:0001819	synonymous_variant	191				methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding	g.chr20:32878562G>A	M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"""S-adenosylhomocysteine hydrolase"""			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.741C>T	20.37:g.32878562G>A						AHCY_uc002xaj.2_Silent_p.I219I	p.I247I	NM_000687	NP_000678	P23526	SAHH_HUMAN			6	880	-			247					A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Silent	SNP	ENST00000217426.2	37	c.741C>T	CCDS13233.1																																																																																				0.632	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078773.2	NM_000687		67	186	0	0	0	0.00361	0	67	186				
PLCG1	5335	broad.mit.edu	37	20	39801184	39801184	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:39801184G>T	ENST00000373271.1	+	26	3434	c.3029G>T	c.(3028-3030)cGc>cTc	p.R1010L	PLCG1_ENST00000608689.1_3'UTR|PLCG1_ENST00000244007.3_Missense_Mutation_p.R1010L|PLCG1_ENST00000373272.2_Missense_Mutation_p.R1010L	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1010	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|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)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)	p.R1010L(2)		breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CAGCTCTCCCGCATCTACCCC	0.542																																							uc002xjp.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|breast(3)|skin(2)	8						c.(3028-3030)CGC>CTC		phospholipase C, gamma 1 isoform b							65.0	60.0	62.0					20																	39801184		2203	4300	6503	SO:0001583	missense	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39801184G>T	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.3029G>T	20.37:g.39801184G>T	ENSP00000362368:p.Arg1010Leu					PLCG1_uc002xjo.1_Missense_Mutation_p.R1010L|PLCG1_uc010zwe.1_Missense_Mutation_p.R636L	p.R1010L	NM_182811	NP_877963	P19174	PLCG1_HUMAN			26	3150	+		Myeloproliferative disorder(115;0.00878)	1010			PI-PLC Y-box.		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	c.3029G>T	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	G	36	5.609987	0.96637	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	D;D;D	0.83163	-1.69;-1.69;-1.69	5.82	5.82	0.92795	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.122950	0.64402	D	0.000012	D	0.94351	0.8184	H	0.95539	3.685	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	0.95266	0.8373	10	0.87932	D	0	.	20.1054	0.97890	0.0:0.0:1.0:0.0	.	1010;1010;1010	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	L	1010	ENSP00000244007:R1010L;ENSP00000362368:R1010L;ENSP00000362369:R1010L	ENSP00000244007:R1010L	R	+	2	0	PLCG1	39234598	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.869000	0.99810	2.757000	0.94681	0.655000	0.94253	CGC		0.542	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		6	47	1	0	0.00116845	0.001168	0.00122601	6	47				
LPIN3	64900	broad.mit.edu	37	20	39985681	39985681	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:39985681G>T	ENST00000373257.3	+	15	1896	c.1805G>T	c.(1804-1806)cGg>cTg	p.R602L		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	602	C-LIP.				fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.R602L(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				TGGCCTCAGCGGCGCCTGAAC	0.612																																							uc002xjx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(1)	4						c.(1804-1806)CGG>CTG		lipin 3							70.0	60.0	63.0					20																	39985681		2203	4300	6503	SO:0001630	splice_region_variant	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39985681G>T	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.1804-1G>T	20.37:g.39985681G>T						LPIN3_uc010ggh.2_Missense_Mutation_p.R603L|LPIN3_uc010zwf.1_RNA	p.R602L	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN			15	1896	+		Myeloproliferative disorder(115;0.000739)	602			C-LIP.		B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	ENST00000373257.3	37	c.1805G>T	CCDS33469.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.01|12.01	1.809543|1.809543	0.31961|0.31961	.|.	.|.	ENSG00000132793|ENSG00000132793	ENST00000445975|ENST00000373257;ENST00000373259	.|T	.|0.80304	.|-1.36	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	.|0.370565	.|0.28488	.|N	.|0.015180	T|T	0.72391|0.72391	0.3454|0.3454	L|L	0.54323|0.54323	1.7|1.7	0.30013|0.30013	N|N	0.815|0.815	.|B;B	.|0.31893	.|0.055;0.345	.|B;B	.|0.23018	.|0.028;0.043	T|T	0.69712|0.69712	-0.5071|-0.5071	5|9	.|.	.|.	.|.	-13.9751|-13.9751	10.7271|10.7271	0.46074|0.46074	0.0876:0.0:0.9124:0.0|0.0876:0.0:0.9124:0.0	.|.	.|603;602	.|Q9BQK8-2;Q9BQK8	.|.;LPIN3_HUMAN	C|L	92|602;235	.|ENSP00000362354:R602L	.|.	G|R	+|+	1|2	0|0	LPIN3|LPIN3	39419095|39419095	1.000000|1.000000	0.71417|0.71417	0.773000|0.773000	0.31616|0.31616	0.530000|0.530000	0.34684|0.34684	4.040000|4.040000	0.57333|0.57333	2.279000|2.279000	0.76181|0.76181	0.462000|0.462000	0.41574|0.41574	GGC|CGG		0.612	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896	Missense_Mutation	14	62	1	0	0.000422831	0.004007	0.000450258	14	62				
SGK2	10110	broad.mit.edu	37	20	42199282	42199282	+	Missense_Mutation	SNP	G	G	A	rs559824768		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:42199282G>A	ENST00000341458.4	+	6	785	c.566G>A	c.(565-567)cGc>cAc	p.R189H	SGK2_ENST00000485914.1_3'UTR|SGK2_ENST00000373100.1_Missense_Mutation_p.R129H|SGK2_ENST00000423407.3_Missense_Mutation_p.R129H|SGK2_ENST00000373077.1_Missense_Mutation_p.R128H|SGK2_ENST00000373092.3_Missense_Mutation_p.R129H|SGK2_ENST00000426287.1_Missense_Mutation_p.R155H	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	189	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)	p.R189H(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAGCGGGAGCGCCGGTTCCTG	0.637																																							uc002xkv.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	6						c.(565-567)CGC>CAC		serum/glucocorticoid regulated kinase 2 isoform							61.0	62.0	62.0					20																	42199282		2203	4300	6503	SO:0001583	missense	10110				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity	g.chr20:42199282G>A	AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.566G>A	20.37:g.42199282G>A	ENSP00000340608:p.Arg189His					SGK2_uc002xkt.2_RNA|SGK2_uc002xkr.2_Missense_Mutation_p.R129H|SGK2_uc010ggm.2_Missense_Mutation_p.R129H|SGK2_uc002xks.2_Missense_Mutation_p.R128H|SGK2_uc002xku.2_Missense_Mutation_p.R129H	p.R189H	NM_016276	NP_057360	Q9HBY8	SGK2_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		6	785	+		Myeloproliferative disorder(115;0.00452)	189			Protein kinase.		Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	ENST00000341458.4	37	c.566G>A	CCDS13320.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656820	0.67586	.	.	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000412111;ENST00000423407;ENST00000341458;ENST00000426287	T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79	4.77	2.75	0.32379	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.148295	0.64402	N	0.000014	T	0.21267	0.0512	L	0.52905	1.665	0.58432	D	0.999999	B;P;B	0.35872	0.424;0.525;0.167	B;B;B	0.28465	0.032;0.09;0.038	T	0.04373	-1.0956	10	0.51188	T	0.08	.	10.9474	0.47308	0.163:0.0:0.837:0.0	.	155;189;129	Q9HBY8-3;Q9HBY8;Q9HBY8-2	.;SGK2_HUMAN;.	H	129;129;128;128;129;189;155	ENSP00000362192:R129H;ENSP00000362184:R129H;ENSP00000362168:R128H;ENSP00000396222:R128H;ENSP00000392795:R129H;ENSP00000340608:R189H;ENSP00000412214:R155H	ENSP00000340608:R189H	R	+	2	0	SGK2	41632696	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.835000	0.48175	0.660000	0.30964	0.655000	0.94253	CGC		0.637	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1			19	111	0	0	0	0.008871	0	19	111				
NCOA3	8202	broad.mit.edu	37	20	46268485	46268485	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:46268485A>G	ENST00000371998.3	+	15	3063	c.2872A>G	c.(2872-2874)Att>Gtt	p.I958V	NCOA3_ENST00000341724.6_Missense_Mutation_p.I888V|NCOA3_ENST00000371997.3_Missense_Mutation_p.I953V|NCOA3_ENST00000372004.3_Missense_Mutation_p.I958V			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	958					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.I958V(2)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGGTGGCTCTATTCCCACATT	0.493																																							uc002xtk.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)|skin(1)	5						c.(2872-2874)ATT>GTT		nuclear receptor coactivator 3 isoform a							94.0	97.0	96.0					20																	46268485		2203	4300	6503	SO:0001583	missense	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46268485A>G	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.2872A>G	20.37:g.46268485A>G	ENSP00000361066:p.Ile958Val					NCOA3_uc010ght.1_Missense_Mutation_p.I953V|NCOA3_uc002xtl.2_Missense_Mutation_p.I958V|NCOA3_uc002xtm.2_Missense_Mutation_p.I958V|NCOA3_uc002xtn.2_Missense_Mutation_p.I958V|NCOA3_uc010zyc.1_Missense_Mutation_p.I753V	p.I958V	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN			15	3077	+			958					A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.2872A>G	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	A	1.468	-0.560684	0.03939	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.02015	4.51;4.7;4.7;4.5	5.89	-7.81	0.01210	.	0.761283	0.12372	N	0.474650	T	0.00666	0.0022	N	0.01352	-0.895	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.43750	-0.9372	10	0.05620	T	0.96	-0.4064	9.5239	0.39152	0.3623:0.0:0.4675:0.1702	.	958;953;962;958;958;958	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	V	958;888;958;958;953	ENSP00000342123:I888V;ENSP00000361073:I958V;ENSP00000361066:I958V;ENSP00000361065:I953V	ENSP00000345671:I958V	I	+	1	0	NCOA3	45701892	0.003000	0.15002	0.001000	0.08648	0.203000	0.24098	0.039000	0.13884	-1.022000	0.03346	-0.410000	0.06199	ATT		0.493	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		78	179	0	0	0	0.00361	0	78	179				
SULF2	55959	broad.mit.edu	37	20	46313275	46313275	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:46313275C>A	ENST00000359930.4	-	6	1639	c.788G>T	c.(787-789)cGc>cTc	p.R263L	SULF2_ENST00000361612.4_Missense_Mutation_p.R263L|CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000484875.1_Missense_Mutation_p.R263L|SULF2_ENST00000467815.1_Missense_Mutation_p.R263L	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	263					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.R263L(2)		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						CCCCGTGTAGCGCATGATCCA	0.597																																							uc002xto.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(787-789)CGC>CTC		sulfatase 2 isoform a precursor							169.0	114.0	133.0					20																	46313275		2203	4300	6503	SO:0001583	missense	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.chr20:46313275C>A	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.788G>T	20.37:g.46313275C>A	ENSP00000353007:p.Arg263Leu					SULF2_uc002xtr.2_Missense_Mutation_p.R263L|SULF2_uc002xtq.2_Missense_Mutation_p.R263L	p.R263L	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN			6	1118	-			263					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.788G>T	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	c	25.7	4.662499	0.88251	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815	D;D;D;D	0.99239	-5.61;-5.61;-5.6;-5.61	4.62	4.62	0.57501	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.049944	0.85682	D	0.000000	D	0.99357	0.9774	M	0.77406	2.37	0.53005	D	0.999968	D;D	0.89917	0.96;1.0	B;D	0.91635	0.407;0.999	D	0.98962	1.0798	10	0.87932	D	0	-24.0617	17.7056	0.88308	0.0:1.0:0.0:0.0	.	263;263	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	L	263	ENSP00000353007:R263L;ENSP00000418290:R263L;ENSP00000354662:R263L;ENSP00000418442:R263L	ENSP00000353007:R263L	R	-	2	0	SULF2	45746682	0.987000	0.35691	1.000000	0.80357	0.994000	0.84299	1.924000	0.40065	2.401000	0.81631	0.537000	0.68136	CGC		0.597	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		19	54	1	0	1.50039e-11	0.001882	1.99377e-11	19	54				
PREX1	57580	broad.mit.edu	37	20	47364417	47364417	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:47364417C>A	ENST00000371941.3	-	2	242	c.220G>T	c.(220-222)Gca>Tca	p.A74S	PREX1_ENST00000396220.1_Splice_Site_p.A74S	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	74	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A74S(4)|p.A74T(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TGCAGGAATGCCTGGAGGAGA	0.592																																							uc002xtw.1		NA																	6	Substitution - Missense(6)		lung(4)|large_intestine(2)	lung(3)|ovary(2)|pancreas(1)	6						c.(220-222)GCA>TCA		phosphatidylinositol-3,4,							84.0	76.0	79.0					20																	47364417		2203	4300	6503	SO:0001630	splice_region_variant	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47364417C>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.220-1G>T	20.37:g.47364417C>A							p.A74S	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		2	243	-			74			DH.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.220G>T	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548870	0.86127	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.67865	-0.29;-0.29	4.54	4.54	0.55810	Dbl homology (DH) domain (5);	0.000000	0.48286	U	0.000186	T	0.71929	0.3398	L	0.27053	0.805	0.58432	D	0.999997	D	0.69078	0.997	D	0.71414	0.973	T	0.74475	-0.3653	10	0.49607	T	0.09	.	17.1397	0.86749	0.0:1.0:0.0:0.0	.	74	Q8TCU6	PREX1_HUMAN	S	74	ENSP00000361009:A74S;ENSP00000379522:A74S	ENSP00000361009:A74S	A	-	1	0	PREX1	46797824	1.000000	0.71417	0.979000	0.43373	0.884000	0.51177	5.989000	0.70587	2.373000	0.80994	0.442000	0.29010	GCA		0.592	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	Missense_Mutation	7	22	1	0	8.12818e-05	0.001984	8.70246e-05	7	22				
SLC9A8	23315	broad.mit.edu	37	20	48504417	48504417	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:48504417G>T	ENST00000361573.2	+	16	1732	c.1690G>T	c.(1690-1692)Gag>Tag	p.E564*	SLC9A8_ENST00000541138.1_Nonsense_Mutation_p.E264*|SLC9A8_ENST00000490250.1_3'UTR|SLC9A8_ENST00000417961.1_Nonsense_Mutation_p.E580*|SLC9A8_ENST00000539601.1_Nonsense_Mutation_p.E345*			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	564					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)	p.E564*(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			CAAGTGGTACGAGGAGGTACG	0.657																																							uc002xuv.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(1690-1692)GAG>TAG		sodium/hydrogen exchanger 8							82.0	70.0	74.0					20																	48504417		2203	4300	6503	SO:0001587	stop_gained	23315					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr20:48504417G>T	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.1690G>T	20.37:g.48504417G>T	ENSP00000354966:p.Glu564*					SLC9A8_uc010zym.1_Nonsense_Mutation_p.E264*|SLC9A8_uc010gid.2_Nonsense_Mutation_p.E188*	p.E564*	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	BRCA - Breast invasive adenocarcinoma(9;3.91e-07)		16	1900	+			564					B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Nonsense_Mutation	SNP	ENST00000361573.2	37	c.1690G>T	CCDS13421.1	.	.	.	.	.	.	.	.	.	.	G	45	11.445901	0.99562	.	.	ENSG00000197818	ENST00000417961;ENST00000361573;ENST00000541138;ENST00000539601	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	19.1739	0.93594	0.0:0.0:1.0:0.0	.	.	.	.	X	580;564;264;345	.	ENSP00000354966:E564X	E	+	1	0	SLC9A8	47937824	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	9.371000	0.97162	2.526000	0.85167	0.561000	0.74099	GAG		0.657	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524		41	90	1	0	4.67007e-22	0.00874	7.88011e-22	41	90				
KCNG1	3755	broad.mit.edu	37	20	49626742	49626742	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:49626742C>A	ENST00000371571.4	-	2	419	c.134G>T	c.(133-135)cGg>cTg	p.R45L	KCNG1_ENST00000396017.3_Missense_Mutation_p.R45L|RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'Flank	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	45					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.R45L(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CGGCCGCAGCCGCTGCGCCCG	0.706																																							uc002xwa.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(133-135)CGG>CTG		potassium voltage-gated channel, subfamily G,							17.0	21.0	20.0					20																	49626742		2190	4275	6465	SO:0001583	missense	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49626742C>A	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.134G>T	20.37:g.49626742C>A	ENSP00000360626:p.Arg45Leu					KCNG1_uc002xwb.2_Missense_Mutation_p.R45L	p.R45L	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN			2	429	-			45			Cytoplasmic (Potential).		A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	ENST00000371571.4	37	c.134G>T	CCDS13436.1	.	.	.	.	.	.	.	.	.	.	C	3.366	-0.129360	0.06753	.	.	ENSG00000026559	ENST00000371571;ENST00000396017;ENST00000439216;ENST00000424171;ENST00000433903;ENST00000447736	D;D;D;D	0.97772	-4.53;-2.59;-3.17;-3.47	6.0	3.97	0.46021	.	0.680540	0.14091	N	0.341961	D	0.91801	0.7406	N	0.11560	0.145	0.34447	D	0.700213	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	D	0.89533	0.3787	9	.	.	.	.	7.8727	0.29576	0.2939:0.6267:0.0:0.0794	.	45;45	Q9UIX4-2;Q9UIX4	.;KCNG1_HUMAN	L	45	ENSP00000360626:R45L;ENSP00000379338:R45L;ENSP00000394075:R45L;ENSP00000394093:R45L	.	R	-	2	0	KCNG1	49060149	0.916000	0.31088	1.000000	0.80357	0.677000	0.39632	1.574000	0.36482	1.564000	0.49628	0.555000	0.69702	CGG		0.706	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		16	21	1	0	5.03518e-11	0.007413	6.56908e-11	16	21				
SALL4	57167	broad.mit.edu	37	20	50407691	50407691	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:50407691T>A	ENST00000217086.4	-	2	1442	c.1331A>T	c.(1330-1332)gAg>gTg	p.E444V	SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	444					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.E444V(2)		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						GTCCTGGAACTCGGCAAACAG	0.552																																							uc002xwh.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1330-1332)GAG>GTG		sal-like 4							54.0	57.0	56.0					20																	50407691		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50407691T>A	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.1331A>T	20.37:g.50407691T>A	ENSP00000217086:p.Glu444Val					SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron	p.E444V	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN			2	1432	-			444					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.1331A>T	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	T	17.72	3.458566	0.63401	.	.	ENSG00000101115	ENST00000217086	T	0.12147	2.71	5.28	5.28	0.74379	.	0.153980	0.30374	N	0.009779	T	0.38134	0.1029	M	0.83603	2.65	0.80722	D	1	D	0.69078	0.997	P	0.61940	0.896	T	0.32322	-0.9911	10	0.52906	T	0.07	-22.9948	15.2036	0.73159	0.0:0.0:0.0:1.0	.	444	Q9UJQ4	SALL4_HUMAN	V	444	ENSP00000217086:E444V	ENSP00000217086:E444V	E	-	2	0	SALL4	49841098	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.992000	0.88273	1.992000	0.58205	0.528000	0.53228	GAG		0.552	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			47	77	0	0	0	0.00361	0	47	77				
CTCFL	140690	broad.mit.edu	37	20	56078492	56078492	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:56078492C>A	ENST00000608263.1	-	9	2501	c.1840G>T	c.(1840-1842)Gaa>Taa	p.E614*	CTCFL_ENST00000243914.3_Splice_Site_p.E614*|CTCFL_ENST00000608440.1_Splice_Site_p.G614C|CTCFL_ENST00000502686.2_Splice_Site_p.G352C|CTCFL_ENST00000433949.3_Splice_Site_p.G409C|CTCFL_ENST00000371196.2_Splice_Site_p.E614*|CTCFL_ENST00000609232.1_Splice_Site_p.E614*|CTCFL_ENST00000429804.3_Splice_Site_p.E564*|CTCFL_ENST00000423479.3_Splice_Site_p.E614*	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	614					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)	p.E614*(2)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			AAATCAGTACCGTCTCCGTTC	0.512																																							uc010gix.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)|large_intestine(1)|skin(1)	4						c.(1840-1842)GAA>TAA		CCCTC-binding factor-like protein							185.0	162.0	170.0					20																	56078492		2203	4300	6503	SO:0001630	splice_region_variant	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56078492C>A		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1840+1G>T	20.37:g.56078492C>A						CTCFL_uc010giw.1_Nonsense_Mutation_p.E614*|CTCFL_uc002xym.2_Nonsense_Mutation_p.E614*|CTCFL_uc010giz.1_Nonsense_Mutation_p.E202*|CTCFL_uc010giy.1_Nonsense_Mutation_p.E284*|CTCFL_uc010gja.1_Nonsense_Mutation_p.E564*|CTCFL_uc010gjb.1_Nonsense_Mutation_p.E614*|CTCFL_uc010gjc.1_Nonsense_Mutation_p.E614*|CTCFL_uc010gjd.1_Nonsense_Mutation_p.E614*|CTCFL_uc010gje.2_Missense_Mutation_p.G614C|CTCFL_uc010gjf.2_Missense_Mutation_p.G409C|CTCFL_uc010gjg.2_Missense_Mutation_p.G346C|CTCFL_uc010giu.2_RNA|CTCFL_uc010giv.2_RNA	p.E614*	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		9	2502	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		614					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Nonsense_Mutation	SNP	ENST00000608263.1	37	c.1840G>T	CCDS13459.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.709319|7.709319	0.98447|0.98447	.|.	.|.	ENSG00000124092|ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804|ENST00000433949;ENST00000502686	.|T;T	.|0.35973	.|1.28;1.28	2.19|2.19	2.19|2.19	0.27852|0.27852	.|.	2.680170|.	0.01817|.	N|.	0.033799|.	.|T	.|0.18383	.|0.0441	.|.	.|.	.|.	0.44432|0.44432	D|D	0.997359|0.997359	.|B	.|0.31351	.|0.32	.|B	.|0.10450	.|0.005	.|T	.|0.06844	.|-1.0804	.|7	.|.	.|.	.|.	.|.	7.9348|7.9348	0.29923|0.29923	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|614	.|A6XGM2	.|.	X|C	614;614;614;564|614;352	.|ENSP00000392034:G614C;ENSP00000437999:G352C	.|.	E|G	-|-	1|1	0|0	CTCFL|CTCFL	55511898|55511898	0.886000|0.886000	0.30341|0.30341	0.178000|0.178000	0.23040|0.23040	0.007000|0.007000	0.05969|0.05969	2.116000|2.116000	0.41930|0.41930	1.546000|1.546000	0.49388|0.49388	0.491000|0.491000	0.48974|0.48974	GAA|GGT		0.512	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618	Nonsense_Mutation	56	134	1	0	8.72158e-25	0.00361	1.53065e-24	56	134				
PMEPA1	56937	broad.mit.edu	37	20	56227123	56227123	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:56227123C>T	ENST00000341744.3	-	4	1169	c.850G>A	c.(850-852)Gga>Aga	p.G284R	PMEPA1_ENST00000395814.1_Missense_Mutation_p.G234R|PMEPA1_ENST00000347215.4_Missense_Mutation_p.G249R|PMEPA1_ENST00000395816.3_Missense_Mutation_p.G234R|PMEPA1_ENST00000265626.4_Missense_Mutation_p.G234R	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	284					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)	p.G284R(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						AGAGGGTGTCCTTTCTGTTTA	0.627																																							uc002xyq.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(850-852)GGA>AGA		transmembrane prostate androgen-induced protein							26.0	29.0	28.0					20																	56227123		2191	4275	6466	SO:0001583	missense	56937				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	g.chr20:56227123C>T	AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"""solid tumor-associated 1"""	606564	"""transmembrane, prostate androgen induced RNA"""	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.850G>A	20.37:g.56227123C>T	ENSP00000345826:p.Gly284Arg					PMEPA1_uc002xyr.2_Missense_Mutation_p.G234R|PMEPA1_uc002xys.2_Missense_Mutation_p.G249R|PMEPA1_uc002xyt.2_Missense_Mutation_p.G234R	p.G284R	NM_020182	NP_064567	Q969W9	PMEPA_HUMAN			4	1243	-			284			Cytoplasmic (Potential).		Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Missense_Mutation	SNP	ENST00000341744.3	37	c.850G>A	CCDS13463.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019203	0.35606	.	.	ENSG00000124225	ENST00000341744;ENST00000347215;ENST00000395816;ENST00000265626;ENST00000395814	T;T;T;T;T	0.49432	0.78;0.8;0.81;0.81;0.81	5.53	2.56	0.30785	.	0.263140	0.32655	N	0.005807	T	0.47097	0.1427	M	0.74881	2.28	0.41589	D	0.988786	B;B	0.15141	0.007;0.012	B;B	0.14578	0.006;0.011	T	0.47045	-0.9147	10	0.87932	D	0	-5.9717	10.684	0.45833	0.0:0.7924:0.0:0.2076	.	249;284	Q5JY37;Q969W9	.;PMEPA_HUMAN	R	284;249;234;234;234	ENSP00000345826:G284R;ENSP00000344014:G249R;ENSP00000379161:G234R;ENSP00000265626:G234R;ENSP00000379159:G234R	ENSP00000265626:G234R	G	-	1	0	PMEPA1	55660529	1.000000	0.71417	0.055000	0.19348	0.011000	0.07611	5.303000	0.65738	0.299000	0.22661	-0.157000	0.13467	GGA		0.627	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182		3	12	0	0	0	0.004672	0	3	12				
CDH26	60437	broad.mit.edu	37	20	58567503	58567503	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:58567503G>T	ENST00000244047.5	+	10	1665	c.1354G>T	c.(1354-1356)Gag>Tag	p.E452*	CDH26_ENST00000348616.4_Nonsense_Mutation_p.E452*			Q8IXH8	CAD26_HUMAN	cadherin 26	452	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E452*(4)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CATCACCGTGGAGCCAATTGA	0.413																																							uc002ybe.2		NA																	4	Substitution - Nonsense(4)		lung(4)	ovary(3)|central_nervous_system(1)	4						c.(1354-1356)GAG>TAG		cadherin-like 26 isoform a							123.0	109.0	114.0					20																	58567503		2203	4300	6503	SO:0001587	stop_gained	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58567503G>T	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1354G>T	20.37:g.58567503G>T	ENSP00000244047:p.Glu452*					CDH26_uc002ybf.1_Nonsense_Mutation_p.E32*|CDH26_uc010zzy.1_RNA|CDH26_uc002ybg.2_5'Flank	p.E452*	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		10	1654	+	all_lung(29;0.00963)		452			Extracellular (Potential).|Cadherin 4.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Nonsense_Mutation	SNP	ENST00000244047.5	37	c.1354G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.26|13.26	2.185023|2.185023	0.38609|0.38609	.|.	.|.	ENSG00000124215|ENSG00000124215	ENST00000244047;ENST00000348616|ENST00000370991	.|.	.|.	.|.	5.03|5.03	-10.1|-10.1	0.00402|0.00402	.|.	0.785759|.	0.11419|.	N|.	0.566017|.	.|T	.|0.33585	.|0.0868	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.39522	.|-0.9610	.|3	0.02654|.	T|.	1|.	.|.	11.2825|11.2825	0.49203|0.49203	0.2377:0.6185:0.1438:0.0|0.2377:0.6185:0.1438:0.0	.|.	.|.	.|.	.|.	X|C	452|43	.|.	ENSP00000244047:E452X|.	E|W	+|+	1|3	0|0	CDH26|CDH26	58000898|58000898	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.109000|-0.109000	0.10840|0.10840	-2.955000|-2.955000	0.00292|0.00292	-0.974000|-0.974000	0.02594|0.02594	GAG|TGG		0.413	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		14	72	1	0	4.14922e-12	0.004007	5.66652e-12	14	72				
LAMA5	3911	broad.mit.edu	37	20	60888802	60888802	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:60888802G>C	ENST00000252999.3	-	63	8627	c.8561C>G	c.(8560-8562)aCc>aGc	p.T2854S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2854	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)	p.T2854S(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GTCACCCTTGGTTTCCTGGAT	0.627																																							uc002ycq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(8560-8562)ACC>AGC		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						106.0	83.0	91.0					20																	60888802		2203	4299	6502	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60888802G>C	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.8561C>G	20.37:g.60888802G>C	ENSP00000252999:p.Thr2854Ser						p.T2854S	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		63	8628	-	Breast(26;1.57e-08)		2854			Laminin G-like 1.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.8561C>G	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	g	14.83	2.652348	0.47362	.	.	ENSG00000130702	ENST00000252999	T	0.76968	-1.06	4.2	2.92	0.33932	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.247909	0.39834	U	0.001243	T	0.66509	0.2796	L	0.33485	1.01	0.80722	D	1	P	0.46064	0.872	P	0.47162	0.54	T	0.59815	-0.7383	10	0.10111	T	0.7	.	6.8952	0.24253	0.2697:0.0:0.7303:0.0	.	2854	O15230	LAMA5_HUMAN	S	2854	ENSP00000252999:T2854S	ENSP00000252999:T2854S	T	-	2	0	LAMA5	60322197	1.000000	0.71417	0.998000	0.56505	0.875000	0.50365	0.987000	0.29603	0.441000	0.26529	0.457000	0.33378	ACC		0.627	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		51	126	0	0	0	0.00361	0	51	126				
NTSR1	4923	broad.mit.edu	37	20	61386223	61386223	+	Missense_Mutation	SNP	G	G	T	rs148569146	byFrequency	TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:61386223G>T	ENST00000370501.3	+	2	1272	c.901G>T	c.(901-903)Ggc>Tgc	p.G301C		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	301					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)	p.G301C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CCTGCGGCACGGCGTGCGCGT	0.706																																					GBM(37;400 780 6403 19663 35669)	GBM(37;400 780 6403 19663 35669)	uc002ydf.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|lung(1)|central_nervous_system(1)	4						c.(901-903)GGC>TGC		neurotensin receptor 1							44.0	35.0	38.0					20																	61386223		2198	4295	6493	SO:0001583	missense	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61386223G>T		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"""GPCR / Class A : Neurotensin receptors"""	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.901G>T	20.37:g.61386223G>T	ENSP00000359532:p.Gly301Cys						p.G301C	NM_002531	NP_002522	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		2	1272	+	Breast(26;3.65e-08)		301			Cytoplasmic (Potential).		Q9H4H1|Q9H4T5	Missense_Mutation	SNP	ENST00000370501.3	37	c.901G>T	CCDS13502.1	.	.	.	.	.	.	.	.	.	.	g	14.50	2.553083	0.45487	.	.	ENSG00000101188	ENST00000370501	T	0.32988	1.43	4.01	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	0.496764	0.20077	N	0.099740	T	0.40956	0.1138	L	0.27053	0.805	0.58432	D	0.999999	D	0.71674	0.998	D	0.64237	0.923	T	0.39901	-0.9591	10	0.52906	T	0.07	-16.9548	16.4738	0.84125	0.0:0.0:1.0:0.0	.	301	P30989	NTR1_HUMAN	C	301	ENSP00000359532:G301C	ENSP00000359532:G301C	G	+	1	0	NTSR1	60856668	1.000000	0.71417	0.501000	0.27601	0.103000	0.19146	8.163000	0.89659	1.940000	0.56252	0.306000	0.20318	GGC		0.706	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			18	32	1	0	1.67942e-08	0.006122	1.99004e-08	18	32				
COL9A3	1299	broad.mit.edu	37	20	61453144	61453144	+	Silent	SNP	C	C	A	rs568508604		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:61453144C>A	ENST00000343916.3	+	8	408	c.405C>A	c.(403-405)atC>atA	p.I135I		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	135	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	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)	p.I135I(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CAGGTGGGATCGGCCTCCGCG	0.697																																							uc002ydm.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(403-405)ATC>ATA		alpha 3 type IX collagen precursor							15.0	18.0	17.0					20																	61453144		2191	4292	6483	SO:0001819	synonymous_variant	1299				axon guidance	collagen type IX		g.chr20:61453144C>A	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.405C>A	20.37:g.61453144C>A							p.I135I	NM_001853	NP_001844	Q14050	CO9A3_HUMAN			8	408	+	Breast(26;5.68e-08)		135			Triple-helical region 3 (COL3).		Q13681|Q9H4G9|Q9UPE2	Silent	SNP	ENST00000343916.3	37	c.405C>A	CCDS13505.1																																																																																				0.697	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853		6	29	1	0	0.00116845	0.001168	0.00122601	6	29				
CHRNA4	1137	broad.mit.edu	37	20	61982276	61982276	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:61982276T>C	ENST00000370263.4	-	5	708	c.487A>G	c.(487-489)Atc>Gtc	p.I163V	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	163					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.I163V(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)	GTGACGTCGATGCTGCAGGAG	0.597																																							uc002yes.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(487-489)ATC>GTC		cholinergic receptor, nicotinic, alpha 4 subunit	Nicotine(DB00184)|Varenicline(DB01273)						113.0	103.0	106.0					20																	61982276		2202	4300	6502	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.chr20:61982276T>C		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.487A>G	20.37:g.61982276T>C	ENSP00000359285:p.Ile163Val					CHRNA4_uc002yet.1_5'UTR|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.I92V|CHRNA4_uc002yev.1_5'UTR|CHRNA4_uc010gkf.1_5'UTR	p.I163V	NM_000744	NP_000735	P43681	ACHA4_HUMAN			5	665	-	all_cancers(38;1.71e-10)		163			Extracellular (Potential).		Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	ENST00000370263.4	37	c.487A>G	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.345311	0.82022	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	T	0.80653	-1.4	4.87	4.87	0.63330	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.87281	0.6138	L	0.56396	1.775	0.80722	D	1	D;D	0.64830	0.964;0.994	D;D	0.79108	0.992;0.98	D	0.88302	0.2950	10	0.62326	D	0.03	.	14.4626	0.67462	0.0:0.0:0.0:1.0	.	92;163	Q4VAQ5;P43681	.;ACHA4_HUMAN	V	69;163;92	ENSP00000359285:I163V	ENSP00000359280:I69V	I	-	1	0	CHRNA4	61452720	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.099000	0.71466	1.806000	0.52798	0.459000	0.35465	ATC		0.597	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			27	137	0	0	0	0.004656	0	27	137				
KCNQ2	3785	broad.mit.edu	37	20	62044883	62044883	+	Silent	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:62044883G>C	ENST00000359125.2	-	15	1857	c.1683C>G	c.(1681-1683)ccC>ccG	p.P561P	KCNQ2_ENST00000344462.4_Silent_p.P530P|KCNQ2_ENST00000359689.1_Silent_p.P561P|KCNQ2_ENST00000370224.1_Silent_p.P533P|KCNQ2_ENST00000354587.3_Silent_p.P533P|KCNQ2_ENST00000357249.2_Silent_p.P543P|KCNQ2_ENST00000360480.3_Silent_p.P533P	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	561					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.P561P(2)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TCACGTCGTAGGGCCGCAGGC	0.652																																							uc002yey.1		NA																	2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1681-1683)CCC>CCG		potassium voltage-gated channel KQT-like protein	Amitriptyline(DB00321)						111.0	101.0	104.0					20																	62044883		2203	4300	6503	SO:0001819	synonymous_variant	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62044883G>C	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1683C>G	20.37:g.62044883G>C						KCNQ2_uc002yez.1_Silent_p.P530P|KCNQ2_uc002yfa.1_Silent_p.P543P|KCNQ2_uc002yfb.1_Silent_p.P533P	p.P561P	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		15	1860	-	all_cancers(38;1.24e-11)		561			Cytoplasmic (Potential).		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Silent	SNP	ENST00000359125.2	37	c.1683C>G	CCDS13520.1																																																																																				0.652	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		63	169	0	0	0	0.00361	0	63	169				
KCNQ2	3785	broad.mit.edu	37	20	62073809	62073809	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:62073809C>A	ENST00000359125.2	-	5	940	c.766G>T	c.(766-768)Ggg>Tgg	p.G256W	KCNQ2_ENST00000344462.4_Missense_Mutation_p.G256W|KCNQ2_ENST00000344425.5_Missense_Mutation_p.G256W|KCNQ2_ENST00000359689.1_Missense_Mutation_p.G256W|KCNQ2_ENST00000370224.1_Missense_Mutation_p.G256W|KCNQ2_ENST00000354587.3_Missense_Mutation_p.G256W|KCNQ2_ENST00000357249.2_Missense_Mutation_p.G256W|KCNQ2_ENST00000360480.3_Missense_Mutation_p.G256W	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	256					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.G256W(4)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TCGTTCTCCCCCTTCTCTGCC	0.572																																							uc002yey.1		NA																	4	Substitution - Missense(4)		lung(4)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(766-768)GGG>TGG		potassium voltage-gated channel KQT-like protein	Amitriptyline(DB00321)						353.0	284.0	307.0					20																	62073809		2203	4300	6503	SO:0001583	missense	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62073809C>A	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.766G>T	20.37:g.62073809C>A	ENSP00000352035:p.Gly256Trp					KCNQ2_uc002yez.1_Missense_Mutation_p.G256W|KCNQ2_uc002yfa.1_Missense_Mutation_p.G256W|KCNQ2_uc002yfb.1_Missense_Mutation_p.G256W|KCNQ2_uc011aax.1_Missense_Mutation_p.G256W|KCNQ2_uc002yfc.1_Missense_Mutation_p.G256W	p.G256W	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		5	943	-	all_cancers(38;1.24e-11)		256			Extracellular (Potential).		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	37	c.766G>T	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365078	0.82463	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222;ENST00000370221;ENST00000344425	D;D;D;D;D;D;D;D;D;D;D;D	0.98455	-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94	3.38	3.38	0.38709	Ion transport (1);	0.220662	0.38326	N	0.001731	D	0.98516	0.9505	M	0.74258	2.255	0.51012	D	0.999909	D;P;D;P;D;D	0.56287	0.974;0.952;0.975;0.956;0.975;0.965	P;P;P;P;P;P	0.61874	0.895;0.84;0.575;0.575;0.575;0.796	D	0.99449	1.0940	10	0.87932	D	0	-28.8792	15.1735	0.72894	0.0:1.0:0.0:0.0	.	256;256;256;256;256;256	B4DEP4;Q53Y30;O43526-3;O43526-2;O43526-4;O43526	.;.;.;.;.;KCNQ2_HUMAN	W	256	ENSP00000349789:G256W;ENSP00000352035:G256W;ENSP00000359246:G256W;ENSP00000346601:G256W;ENSP00000352718:G256W;ENSP00000399612:G256W;ENSP00000353668:G256W;ENSP00000339611:G256W;ENSP00000359244:G256W;ENSP00000359242:G256W;ENSP00000359241:G256W;ENSP00000345523:G256W	ENSP00000345523:G256W	G	-	1	0	KCNQ2	61544253	1.000000	0.71417	0.888000	0.34837	0.882000	0.50991	7.603000	0.82811	1.604000	0.50143	0.456000	0.33151	GGG		0.572	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		117	300	1	0	9.93988e-36	0.00361	1.93877e-35	117	300				
MRPL39	54148	broad.mit.edu	37	21	26969716	26969716	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr21:26969716C>A	ENST00000352957.4	-	6	640	c.599G>T	c.(598-600)cGt>cTt	p.R200L	MRPL39_ENST00000307301.7_Missense_Mutation_p.R200L	NM_017446.3	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	200						mitochondrial ribosome (GO:0005761)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R200L(4)		endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						TGTGAAGGAACGTAAGTTCTC	0.328																																							uc002ylo.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(598-600)CGT>CTT		mitochondrial ribosomal protein L39 isoform a							47.0	44.0	45.0					21																	26969716		2200	4298	6498	SO:0001583	missense	54148					mitochondrial ribosome	nucleotide binding	g.chr21:26969716C>A	AB051346	CCDS13573.1, CCDS33522.1	21q11.2-q21	2012-09-13			ENSG00000154719	ENSG00000154719		"""Mitochondrial ribosomal proteins / large subunits"""	14027	protein-coding gene	gene with protein product		611845				11543634	Standard	NM_080794		Approved	RPML5, MRP-L5, MGC104174, PRED66, PRED22, C21orf92, L39mt, MSTP003, MGC3400, FLJ20451	uc002yln.3	Q9NYK5	OTTHUMG00000078371	ENST00000352957.4:c.599G>T	21.37:g.26969716C>A	ENSP00000284967:p.Arg200Leu					MRPL39_uc002yln.2_Missense_Mutation_p.R200L	p.R200L	NM_017446	NP_059142	Q9NYK5	RM39_HUMAN			6	613	-			200					C9JYA5|Q32Q74|Q5QTR3|Q96Q65|Q9BSQ7|Q9BZV6|Q9NX44	Missense_Mutation	SNP	ENST00000352957.4	37	c.599G>T	CCDS13573.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151231	0.38021	.	.	ENSG00000154719	ENST00000352957;ENST00000307301;ENST00000419219	T;T;T	0.46819	0.88;0.88;0.86	4.49	3.59	0.41128	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.060994	0.64402	D	0.000004	T	0.50854	0.1640	M	0.82716	2.605	0.58432	D	0.999999	B;B	0.28713	0.059;0.22	B;B	0.30646	0.075;0.118	T	0.50964	-0.8765	10	0.30854	T	0.27	-1.8689	12.468	0.55771	0.0:0.9159:0.0:0.0841	.	200;200	Q9NYK5;Q9NYK5-2	RM39_HUMAN;.	L	200;200;190	ENSP00000284967:R200L;ENSP00000305682:R200L;ENSP00000404426:R190L	ENSP00000305682:R200L	R	-	2	0	MRPL39	25891587	0.879000	0.30193	0.992000	0.48379	0.412000	0.31113	0.837000	0.27558	1.090000	0.41315	0.585000	0.79938	CGT		0.328	MRPL39-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000171194.1	NM_017446		10	15	1	0	4.68919e-08	0.008291	5.47419e-08	10	15				
JAM2	58494	broad.mit.edu	37	21	27062220	27062220	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr21:27062220C>A	ENST00000480456.1	+	3	726	c.176C>A	c.(175-177)tCc>tAc	p.S59Y	JAM2_ENST00000425221.2_Intron|JAM2_ENST00000312957.5_Missense_Mutation_p.S59Y|JAM2_ENST00000400532.1_Missense_Mutation_p.S59Y	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	59	Ig-like V-type.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.S59Y(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						ACTGTTTCCTCCAGATTAGAG	0.403																																							uc002ylp.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(175-177)TCC>TAC		junctional adhesion molecule 2 precursor							135.0	135.0	135.0					21																	27062220		1818	4073	5891	SO:0001583	missense	58494				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		g.chr21:27062220C>A	AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	14686	protein-coding gene	gene with protein product		606870		C21orf43		10779521, 10945976	Standard	NM_021219		Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.176C>A	21.37:g.27062220C>A	ENSP00000420419:p.Ser59Tyr					JAM2_uc011ace.1_Missense_Mutation_p.S59Y|JAM2_uc002ylq.1_RNA|JAM2_uc011acf.1_Intron|JAM2_uc010glh.1_RNA|JAM2_uc002ylr.1_Missense_Mutation_p.S59Y|JAM2_uc010gli.1_Missense_Mutation_p.S59Y	p.S59Y	NM_021219	NP_067042	P57087	JAM2_HUMAN			3	721	+			59			Ig-like V-type.|Extracellular (Potential).		B2R6T9|B4DGT9|Q6UXG6|Q6YNC1	Missense_Mutation	SNP	ENST00000480456.1	37	c.176C>A	CCDS42911.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955834	0.53293	.	.	ENSG00000154721	ENST00000480456;ENST00000400533;ENST00000400532;ENST00000400537;ENST00000312957	T;T;T	0.66280	-0.2;-0.2;-0.2	5.0	4.12	0.48240	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.224693	0.43110	D	0.000605	T	0.72859	0.3513	M	0.62723	1.935	0.40337	D	0.978997	D;D;D;D	0.76494	0.997;0.999;0.998;0.998	D;D;D;D	0.71184	0.972;0.972;0.942;0.961	T	0.75202	-0.3401	10	0.62326	D	0.03	.	9.5749	0.39452	0.0:0.9039:0.0:0.0961	.	59;59;59;59	A8MQ45;A8MXS1;A8MTB0;P57087	.;.;.;JAM2_HUMAN	Y	59	ENSP00000420419:S59Y;ENSP00000383376:S59Y;ENSP00000318416:S59Y	ENSP00000318416:S59Y	S	+	2	0	JAM2	25984091	0.991000	0.36638	0.317000	0.25265	0.826000	0.46750	2.329000	0.43876	1.467000	0.48044	0.557000	0.71058	TCC		0.403	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171347.1			43	170	1	0	5.48756e-27	0.002852	9.89519e-27	43	170				
ADAMTS1	9510	broad.mit.edu	37	21	28209990	28209990	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr21:28209990G>A	ENST00000284984.3	-	9	3266	c.2812C>T	c.(2812-2814)Cat>Tat	p.H938Y		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	938	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.H938Y(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CCTCCATCATGGGACAGACAC	0.458																																							uc002ymf.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|large_intestine(2)|central_nervous_system(1)	6						c.(2812-2814)CAT>TAT		ADAM metallopeptidase with thrombospondin type 1							123.0	126.0	125.0					21																	28209990		2203	4300	6503	SO:0001583	missense	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28209990G>A	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.2812C>T	21.37:g.28209990G>A	ENSP00000284984:p.His938Tyr						p.H938Y	NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	9	3267	-		Breast(209;0.000962)	938			TSP type-1 3.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	c.2812C>T	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	G	8.141	0.785227	0.16189	.	.	ENSG00000154734	ENST00000284984	T	0.52754	0.65	5.22	5.22	0.72569	.	.	.	.	.	T	0.22781	0.0550	N	0.10685	0.025	0.50813	D	0.999898	B	0.12013	0.005	B	0.15052	0.012	T	0.19582	-1.0301	9	0.11794	T	0.64	.	6.5301	0.22322	0.206:0.0:0.794:0.0	.	938	Q9UHI8	ATS1_HUMAN	Y	938	ENSP00000284984:H938Y	ENSP00000284984:H938Y	H	-	1	0	ADAMTS1	27131861	1.000000	0.71417	0.998000	0.56505	0.787000	0.44495	3.447000	0.52936	2.873000	0.98535	0.563000	0.77884	CAT		0.458	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			34	129	0	0	0	0.002096	0	34	129				
ADAMTS5	11096	broad.mit.edu	37	21	28296585	28296585	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr21:28296585G>A	ENST00000284987.5	-	8	2701	c.2580C>T	c.(2578-2580)aaC>aaT	p.N860N	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	860	Spacer.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N860N(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TAGTGACAGAGTTTACTTTTG	0.483																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2		NA																	2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(2578-2580)AAC>AAT		ADAM metallopeptidase with thrombospondin type 1							115.0	116.0	116.0					21																	28296585		2203	4300	6503	SO:0001819	synonymous_variant	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28296585G>A	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2580C>T	21.37:g.28296585G>A							p.N860N	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			8	3309	-			860			Spacer.		Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	37	c.2580C>T	CCDS13579.1																																																																																				0.483	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			47	128	0	0	0	0.002522	0	47	128				
KRTAP13-1	140258	broad.mit.edu	37	21	31768509	31768509	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr21:31768509C>T	ENST00000355459.2	+	1	118	c.105C>T	c.(103-105)gtC>gtT	p.V35V		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	35						intermediate filament (GO:0005882)		p.V35V(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCAACCAGGTCTACAGCACTG	0.602																																							uc002yoa.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(103-105)GTC>GTT		keratin associated protein 13-1							113.0	109.0	110.0					21																	31768509		2203	4300	6503	SO:0001819	synonymous_variant	140258					intermediate filament		g.chr21:31768509C>T	AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"""Keratin associated proteins"""	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.105C>T	21.37:g.31768509C>T							p.V35V	NM_181599	NP_853630	Q8IUC0	KR131_HUMAN			1	118	+			35					Q14D20|Q3LI79	Silent	SNP	ENST00000355459.2	37	c.105C>T	CCDS13590.2																																																																																				0.602	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3			42	133	0	0	0	0.009718	0	42	133				
KRTAP19-6	337973	broad.mit.edu	37	21	31914063	31914063	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr21:31914063G>T	ENST00000334046.5	-	1	120	c.90C>A	c.(88-90)taC>taA	p.Y30*		NM_181612.2	NP_853643.1	Q3LI70	KR196_HUMAN	keratin associated protein 19-6	30						intermediate filament (GO:0005882)		p.Y30*(1)		breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	9						AGCCATATCTGTAGCCTCCAC	0.512																																							uc002yok.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(88-90)TAC>TAA		keratin associated protein 19-6							120.0	126.0	124.0					21																	31914063		2203	4300	6503	SO:0001587	stop_gained	337973					intermediate filament		g.chr21:31914063G>T	AP001708	CCDS13598.1	21q22.1	2010-09-30			ENSG00000186925	ENSG00000186925		"""Keratin associated proteins"""	18941	protein-coding gene	gene with protein product						12359730	Standard	NM_181612		Approved	KAP19.6	uc002yok.1	Q3LI70	OTTHUMG00000057779	ENST00000334046.5:c.90C>A	21.37:g.31914063G>T	ENSP00000375107:p.Tyr30*						p.Y30*	NM_181612	NP_853643	Q3LI70	KR196_HUMAN			1	119	-			30					Q3LI71	Nonsense_Mutation	SNP	ENST00000334046.5	37	c.90C>A	CCDS13598.1	.	.	.	.	.	.	.	.	.	.	g	8.672	0.903048	0.17760	.	.	ENSG00000186925	ENST00000334046;ENST00000437381	.	.	.	3.09	-6.19	0.02078	.	0.476493	0.15366	U	0.266136	.	.	.	.	.	.	0.25621	N	0.986393	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.9879	0.24739	0.6447:0.1405:0.2148:0.0	.	.	.	.	X	30	.	ENSP00000375107:Y30X	Y	-	3	2	KRTAP19-6	30835934	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.736000	0.01845	-1.642000	0.01521	-1.976000	0.00459	TAC		0.512	KRTAP19-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128231.4			39	116	1	0	5.82218e-30	0.00361	1.08976e-29	39	116				
TIAM1	7074	broad.mit.edu	37	21	32525054	32525054	+	Missense_Mutation	SNP	G	G	A	rs148623159		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr21:32525054G>A	ENST00000286827.3	-	20	3737	c.3266C>T	c.(3265-3267)aCg>aTg	p.T1089M	TIAM1_ENST00000541036.1_Missense_Mutation_p.T1029M	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1089	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T1089M(6)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TACCATTTCCGTTAAATTTCC	0.333																																							uc002yow.1		NA																	6	Substitution - Missense(6)		lung(4)|large_intestine(2)	lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(3265-3267)ACG>ATG		T-cell lymphoma invasion and metastasis 1		G	MET/THR	0,4406		0,0,2203	59.0	61.0	60.0		3266	4.7	1.0	21	dbSNP_134	60	1,8599	1.2+/-3.3	0,1,4299	no	missense	TIAM1	NM_003253.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1089/1592	32525054	1,13005	2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32525054G>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3266C>T	21.37:g.32525054G>A	ENSP00000286827:p.Thr1089Met					TIAM1_uc011adk.1_Missense_Mutation_p.T1089M|TIAM1_uc011adl.1_Missense_Mutation_p.T1029M	p.T1089M	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			20	3738	-			1089			DH.		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.3266C>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544610	0.45280	0.0	1.16E-4	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.63417	-0.04;-0.04	5.63	4.74	0.60224	Dbl homology (DH) domain (5);	0.060669	0.64402	D	0.000002	T	0.54062	0.1835	L	0.41492	1.28	0.47153	D	0.999337	B;B;B	0.14805	0.009;0.011;0.011	B;B;B	0.12837	0.005;0.008;0.008	T	0.54801	-0.8239	10	0.66056	D	0.02	.	14.0158	0.64523	0.0718:0.0:0.9282:0.0	.	1029;1029;1089	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	M	1089;930;1029	ENSP00000286827:T1089M;ENSP00000441570:T1029M	ENSP00000286827:T1089M	T	-	2	0	TIAM1	31446925	1.000000	0.71417	0.959000	0.39883	0.984000	0.73092	3.683000	0.54663	2.673000	0.90976	0.650000	0.86243	ACG		0.333	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		7	55	0	0	0	0.001984	0	7	55				
PCBP3	54039	broad.mit.edu	37	21	47360037	47360037	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr21:47360037G>A	ENST00000400314.1	+	15	1341	c.1003G>A	c.(1003-1005)Ggg>Agg	p.G335R	PCBP3_ENST00000400304.1_Missense_Mutation_p.G325R|PCBP3_ENST00000400308.1_Missense_Mutation_p.G309R|PCBP3_ENST00000400310.1_Missense_Mutation_p.G315R|PCBP3_ENST00000449640.1_Missense_Mutation_p.G335R|PCBP3_ENST00000400309.1_Missense_Mutation_p.G334R			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	335	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G303R(2)|p.G335R(2)		biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CGCCACGGAAGGGTCCTCAGA	0.527																																							uc002zhq.1		NA																	4	Substitution - Missense(4)		lung(4)	skin(1)	1						c.(1003-1005)GGG>AGG		poly(rC) binding protein 3 isoform 1							69.0	77.0	75.0					21																	47360037		2132	4246	6378	SO:0001583	missense	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47360037G>A	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.1003G>A	21.37:g.47360037G>A	ENSP00000383168:p.Gly335Arg					PCBP3_uc002zhp.1_Missense_Mutation_p.G315R|PCBP3_uc002zhs.1_Missense_Mutation_p.G309R|PCBP3_uc002zhr.1_Missense_Mutation_p.G334R|PCBP3_uc002zht.1_Missense_Mutation_p.G325R	p.G335R	NM_020528	NP_065389	P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	13	1128	+	all_hematologic(128;0.24)		335			KH 3.		A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Missense_Mutation	SNP	ENST00000400314.1	37	c.1003G>A	CCDS42974.2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145573	0.77888	.	.	ENSG00000183570	ENST00000400314;ENST00000400310;ENST00000400309;ENST00000400308;ENST00000449640;ENST00000346743;ENST00000400305;ENST00000400304	T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51	4.19	4.19	0.49359	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.63355	0.2504	M	0.89968	3.075	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;0.991;1.0;0.955	T	0.74163	-0.3754	10	0.87932	D	0	-2.5192	16.7331	0.85440	0.0:0.0:1.0:0.0	.	325;309;334;335;315	E9PFP8;P57721-2;P57721-4;P57721;P57721-5	.;.;.;PCBP3_HUMAN;.	R	335;315;334;309;335;315;286;325	ENSP00000383168:G335R;ENSP00000383165:G315R;ENSP00000383164:G334R;ENSP00000383163:G309R;ENSP00000401198:G335R;ENSP00000383160:G286R;ENSP00000383159:G325R	ENSP00000330225:G315R	G	+	1	0	PCBP3	46184465	1.000000	0.71417	0.947000	0.38551	0.385000	0.30292	9.016000	0.93645	2.169000	0.68431	0.549000	0.68633	GGG		0.527	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2			44	85	0	0	0	0.002522	0	44	85				
KLHL22	84861	broad.mit.edu	37	22	20812279	20812279	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr22:20812279G>A	ENST00000328879.4	-	5	1277	c.1121C>T	c.(1120-1122)cCa>cTa	p.P374L	KLHL22_ENST00000440659.2_Missense_Mutation_p.P231L	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	374					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.P374L(2)		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)			GTTGTGCCGTGGGTCATACCT	0.597																																							uc002zsl.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(1120-1122)CCA>CTA		kelch-like							106.0	73.0	84.0					22																	20812279		2203	4300	6503	SO:0001583	missense	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20812279G>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.1121C>T	22.37:g.20812279G>A	ENSP00000331682:p.Pro374Leu					KLHL22_uc011ahr.1_Missense_Mutation_p.P231L|KLHL22_uc002zsm.1_Missense_Mutation_p.P374L	p.P374L	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		5	1230	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	374			Kelch 2.		A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	37	c.1121C>T	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868806	0.72065	.	.	ENSG00000099910	ENST00000328879;ENST00000440659	T;T	0.67865	-0.29;-0.29	4.17	3.15	0.36227	Kelch-type beta propeller (1);	0.056300	0.64402	D	0.000001	T	0.80042	0.4551	M	0.82193	2.58	0.80722	D	1	D;D	0.76494	0.999;0.994	D;D	0.72982	0.979;0.943	T	0.80679	-0.1275	10	0.62326	D	0.03	.	9.6673	0.39992	0.1038:0.0:0.8962:0.0	.	231;374	B7Z2G1;Q53GT1	.;KLH22_HUMAN	L	374;231	ENSP00000331682:P374L;ENSP00000405521:P231L	ENSP00000331682:P374L	P	-	2	0	KLHL22	19142279	1.000000	0.71417	0.806000	0.32338	0.655000	0.38815	9.514000	0.98013	0.963000	0.38082	0.462000	0.41574	CCA		0.597	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		17	29	0	0	0	0.00499	0	17	29				
PIWIL3	440822	broad.mit.edu	37	22	25145401	25145401	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr22:25145401G>A	ENST00000332271.5	-	11	1720	c.1304C>T	c.(1303-1305)aCa>aTa	p.T435I	PIWIL3_ENST00000527701.1_Missense_Mutation_p.T326I|PIWIL3_ENST00000533313.1_Missense_Mutation_p.T326I|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	435					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)	p.T435I(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTCTTTTAATGTATGATGCCT	0.363																																							uc003abd.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(1)	4						c.(1303-1305)ACA>ATA		piwi-like 3							168.0	137.0	147.0					22																	25145401		2203	4300	6503	SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25145401G>A	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1304C>T	22.37:g.25145401G>A	ENSP00000330031:p.Thr435Ile					PIWIL3_uc011ajx.1_Missense_Mutation_p.T326I|PIWIL3_uc011ajy.1_Missense_Mutation_p.T326I|PIWIL3_uc010gut.1_Missense_Mutation_p.T435I	p.T435I	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN			11	1721	-			435						Missense_Mutation	SNP	ENST00000332271.5	37	c.1304C>T	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	G	6.165	0.398709	0.11696	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.13420	2.59;2.59;2.59	2.81	0.449	0.16619	Argonaute/Dicer protein, PAZ (1);Ribonuclease H-like (1);	0.495032	0.20629	U	0.088638	T	0.07007	0.0178	N	0.19112	0.55	0.09310	N	1	B;B;B	0.27068	0.021;0.04;0.167	B;B;B	0.23716	0.005;0.029;0.048	T	0.25916	-1.0118	10	0.52906	T	0.07	-2.7146	4.2188	0.10547	0.1914:0.0:0.2199:0.5888	.	326;435;435	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	I	435;326;326	ENSP00000330031:T435I;ENSP00000431843:T326I;ENSP00000435718:T326I	ENSP00000330031:T435I	T	-	2	0	PIWIL3	23475401	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.513000	0.22770	-0.062000	0.13088	0.305000	0.20034	ACA		0.363	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		21	86	0	0	0	0.001882	0	21	86				
CHL1	10752	broad.mit.edu	37	3	382518	382518	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:382518G>T	ENST00000256509.2	+	6	1069	c.427G>T	c.(427-429)Gtg>Ttg	p.V143L	CHL1_ENST00000397491.2_Missense_Mutation_p.V143L	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.V143L(2)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CCCTCTTGAAGTGGAGGAGGG	0.368																																							uc003bou.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12						c.(427-429)GTG>TTG		cell adhesion molecule with homology to L1CAM							64.0	62.0	63.0					3																	382518		2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:382518G>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.427G>T	3.37:g.382518G>T	ENSP00000256509:p.Val143Leu					CHL1_uc003bot.2_Missense_Mutation_p.V143L|CHL1_uc003bow.1_Missense_Mutation_p.V143L|CHL1_uc011asi.1_Missense_Mutation_p.V143L	p.V143L	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	6	698	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	143			Ig-like C2-type 2.|Extracellular (Potential).		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.427G>T	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873756	0.91664	.	.	ENSG00000134121	ENST00000256509;ENST00000397491;ENST00000435603	T;T;T	0.80123	0.8;0.8;-1.34	5.2	5.2	0.72013	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89619	0.6767	M	0.80616	2.505	0.80722	D	1	D;P;D	0.89917	0.972;0.927;1.0	P;P;D	0.91635	0.851;0.634;0.999	D	0.88648	0.3180	10	0.33940	T	0.23	.	16.8964	0.86101	0.0:0.0:1.0:0.0	.	143;143;143	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	L	143	ENSP00000256509:V143L;ENSP00000380628:V143L;ENSP00000397445:V143L	ENSP00000256509:V143L	V	+	1	0	CHL1	357518	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	7.036000	0.76524	2.404000	0.81709	0.650000	0.86243	GTG		0.368	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		19	41	1	0	1.56452e-12	0.007413	2.17817e-12	19	41				
ITPR1	3708	broad.mit.edu	37	3	4718485	4718485	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:4718485G>T	ENST00000443694.2	+	21	2922	c.2922G>T	c.(2920-2922)caG>caT	p.Q974H	ITPR1_ENST00000357086.4_Splice_Site_p.Q980H|ITPR1_ENST00000456211.2_Splice_Site_p.Q965H|ITPR1_ENST00000423119.2_Splice_Site_p.Q980H|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Splice_Site_p.Q974H|ITPR1_ENST00000354582.6_Splice_Site_p.Q989H			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	989					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.Q965H(2)|p.Q974H(2)|p.Q980H(2)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AGATACTCCAGGTATCCACTA	0.547																																							uc003bqa.2		NA																	6	Substitution - Missense(6)		lung(6)	lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21						c.(2938-2940)CAG>CAT		inositol 1,4,5-triphosphate receptor, type 1							49.0	49.0	49.0					3																	4718485		2003	4178	6181	SO:0001630	splice_region_variant	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4718485G>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.2922+1G>T	3.37:g.4718485G>T						ITPR1_uc010hca.1_Missense_Mutation_p.Q965H|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.Q974H	p.Q980H	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	24	3288	+			989			Cytoplasmic (Potential).		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.2940G>T	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059448	0.55325	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.92249	-2.99;-3.0;-3.0;-3.0;-2.99;-2.99	4.1	4.1	0.47936	.	0.000000	0.85682	D	0.000000	D	0.94991	0.8379	L	0.61218	1.895	0.80722	D	1	P;P;D	0.89917	0.79;0.485;1.0	B;B;D	0.97110	0.387;0.256;1.0	D	0.94504	0.7712	10	0.41790	T	0.15	.	16.8665	0.86030	0.0:0.0:1.0:0.0	.	974;989;980	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	H	989;974;989;980;980;965;974	ENSP00000306253:Q974H;ENSP00000346595:Q989H;ENSP00000405934:Q980H;ENSP00000349597:Q980H;ENSP00000397885:Q965H;ENSP00000401671:Q974H	ENSP00000306253:Q974H	Q	+	3	2	ITPR1	4693485	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	9.117000	0.94347	2.280000	0.76307	0.313000	0.20887	CAG		0.547	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	Missense_Mutation	9	26	1	0	0.000274275	0.004482	0.000292461	9	26				
TBC1D5	9779	broad.mit.edu	37	3	17208408	17208408	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:17208408G>T	ENST00000253692.7	-	21	3609	c.1945C>A	c.(1945-1947)Cta>Ata	p.L649I	TBC1D5_ENST00000446818.2_Missense_Mutation_p.L671I|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429383.4_Missense_Mutation_p.L649I	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	649						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)	p.L649I(2)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						GAACCTTTTAGAATGTCTTTG	0.423																																							uc003cbf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1945-1947)CTA>ATA		TBC1 domain family, member 5 isoform b							44.0	42.0	43.0					3																	17208408		2203	4300	6503	SO:0001583	missense	9779					intracellular	protein binding|Rab GTPase activator activity	g.chr3:17208408G>T	D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.1945C>A	3.37:g.17208408G>T	ENSP00000253692:p.Leu649Ile					TBC1D5_uc010heu.2_Missense_Mutation_p.L236I|TBC1D5_uc010hev.2_Missense_Mutation_p.L671I|TBC1D5_uc003cbe.2_Missense_Mutation_p.L649I	p.L649I	NM_014744	NP_055559	Q92609	TBCD5_HUMAN			21	3610	-			649					A6NP25|C9JP52	Missense_Mutation	SNP	ENST00000253692.7	37	c.1945C>A	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341626	0.81911	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818	T;T;T	0.32272	1.46;1.46;1.46	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000001	T	0.43122	0.1233	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	T	0.27640	-1.0068	10	0.56958	D	0.05	-10.1042	12.2495	0.54589	0.0781:0.0:0.9219:0.0	.	671;649;649	C9JP52;B9A6K1;Q92609	.;.;TBCD5_HUMAN	I	649;649;671	ENSP00000253692:L649I;ENSP00000398127:L649I;ENSP00000402935:L671I	ENSP00000253692:L649I	L	-	1	2	TBC1D5	17183412	1.000000	0.71417	0.926000	0.36857	0.994000	0.84299	5.381000	0.66208	2.521000	0.84997	0.561000	0.74099	CTA		0.423	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744		17	31	1	0	1.15088e-07	0.004007	1.32393e-07	17	31				
TRAK1	22906	broad.mit.edu	37	3	42166916	42166916	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:42166916G>T	ENST00000327628.5	+	2	496	c.96G>T	c.(94-96)gtG>gtT	p.V32V	TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	32					endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.V32V(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CTTTAGATGTGTGCAACAGCA	0.488																																					GBM(44;195 884 22595 31865 41850)	GBM(44;195 884 22595 31865 41850)	uc003cky.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(94-96)GTG>GTT		OGT(O-Glc-NAc transferase)-interacting protein							48.0	46.0	47.0					3																	42166916		1926	4140	6066	SO:0001819	synonymous_variant	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42166916G>T		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.96G>T	3.37:g.42166916G>T						TRAK1_uc011azh.1_Silent_p.V32V|TRAK1_uc011azi.1_Silent_p.V32V	p.V32V	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN			2	312	+			32					E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Silent	SNP	ENST00000327628.5	37	c.96G>T	CCDS43072.1																																																																																				0.488	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		18	35	1	0	0.00074312	0.006122	0.000786012	18	35				
CCDC13	152206	broad.mit.edu	37	3	42799619	42799619	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:42799619C>A	ENST00000310232.6	-	2	302	c.219G>T	c.(217-219)aaG>aaT	p.K73N	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	73								p.K73N(2)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GCATTTACCTCTTCTCAAAGC	0.488																																							uc003cly.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(217-219)AAG>AAT		coiled-coil domain containing 13							104.0	95.0	98.0					3																	42799619		2203	4300	6503	SO:0001583	missense	152206							g.chr3:42799619C>A	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.219G>T	3.37:g.42799619C>A	ENSP00000309836:p.Lys73Asn					CCDC13_uc003clz.2_Missense_Mutation_p.K73N|CCDC13_uc011azq.1_Missense_Mutation_p.K73N	p.K73N	NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN			2	303	-			73			Potential.			Missense_Mutation	SNP	ENST00000310232.6	37	c.219G>T	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	C	9.544	1.114143	0.20795	.	.	ENSG00000244607	ENST00000310232	T	0.24350	1.86	4.59	1.36	0.22044	.	1.345730	0.04706	N	0.416762	T	0.22975	0.0555	L	0.47716	1.5	0.49051	D	0.999746	B;B;B	0.30281	0.275;0.275;0.275	B;B;B	0.30782	0.12;0.12;0.075	T	0.27938	-1.0059	10	0.52906	T	0.07	.	3.0337	0.06114	0.0:0.4208:0.2216:0.3576	.	73;73;73	B4DZD2;Q96LI1;Q8IYE1	.;.;CCD13_HUMAN	N	73	ENSP00000309836:K73N	ENSP00000309836:K73N	K	-	3	2	CCDC13	42774623	0.998000	0.40836	0.738000	0.30950	0.696000	0.40369	1.048000	0.30379	0.471000	0.27319	0.655000	0.94253	AAG		0.488	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		20	43	1	0	3.51602e-12	0.008871	4.85223e-12	20	43				
DHX30	22907	broad.mit.edu	37	3	47882439	47882439	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:47882439G>T	ENST00000445061.1	+	7	846	c.439G>T	c.(439-441)Ggc>Tgc	p.G147C	DHX30_ENST00000457607.1_Missense_Mutation_p.G175C|DHX30_ENST00000446256.2_Missense_Mutation_p.G108C|DHX30_ENST00000348968.4_Missense_Mutation_p.G119C	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	147						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.G147C(2)		endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGATCGCTTTGGCTCCCCTGC	0.602																																							uc003cru.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(439-441)GGC>TGC		DEAH (Asp-Glu-Ala-His) box polypeptide 30							54.0	49.0	50.0					3																	47882439		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47882439G>T	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.439G>T	3.37:g.47882439G>T	ENSP00000405620:p.Gly147Cys					DHX30_uc003crs.2_Missense_Mutation_p.G108C|DHX30_uc003crt.2_Missense_Mutation_p.G108C|DHX30_uc010hjr.1_Missense_Mutation_p.G175C	p.G147C	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	7	865	+			147					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.439G>T	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180132	0.78564	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03982	3.81;3.78;3.81;3.74	4.89	4.89	0.63831	.	0.341401	0.26642	N	0.023258	T	0.14399	0.0348	L	0.47716	1.5	0.53005	D	0.999965	D;D;D	0.67145	0.996;0.987;0.994	P;P;P	0.62813	0.809;0.839;0.907	T	0.00423	-1.1748	10	0.87932	D	0	.	15.2313	0.73390	0.0:0.0:1.0:0.0	.	147;108;175	Q7L2E3;Q7L2E3-3;Q7L2E3-2	DHX30_HUMAN;.;.	C	108;147;119;175	ENSP00000392601:G108C;ENSP00000405620:G147C;ENSP00000343442:G119C;ENSP00000394682:G175C	ENSP00000343442:G119C	G	+	1	0	DHX30	47857443	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.888000	0.69758	2.244000	0.73946	0.655000	0.94253	GGC		0.602	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		30	43	1	0	1.88708e-17	0.008361	2.9622e-17	30	43				
GBE1	2632	broad.mit.edu	37	3	81586172	81586172	+	Missense_Mutation	SNP	G	G	A	rs552094593		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:81586172G>A	ENST00000429644.2	-	13	2336	c.1693C>T	c.(1693-1695)Cgg>Tgg	p.R565W	GBE1_ENST00000489715.1_Missense_Mutation_p.R524W	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	565					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.R565W(4)		breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TGAAACTGCCGCCTGGCATAA	0.383									Glycogen Storage Disease, type IV																														uc003dqg.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)	3						c.(1693-1695)CGG>TGG		glucan (1,4-alpha-), branching enzyme 1							92.0	90.0	91.0					3																	81586172		1841	4087	5928	SO:0001583	missense	2632	Glycogen_Storage_Disease_type_IV	Familial Cancer Database	Andersen Disease, Brancher deficiency	glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr3:81586172G>A		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"""glycogen branching enzyme"", ""Andersen disease"", ""glycogen storage disease type IV"""	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.1693C>T	3.37:g.81586172G>A	ENSP00000410833:p.Arg565Trp					GBE1_uc011bgm.1_Missense_Mutation_p.R524W	p.R565W	NM_000158	NP_000149	Q04446	GLGB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)	14	1976	-		Lung NSC(201;0.0117)	565					B3KWV3|Q96EN0	Missense_Mutation	SNP	ENST00000429644.2	37	c.1693C>T	CCDS54612.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835199	0.50951	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715;ENST00000536832	D;D	0.98585	-5.01;-5.01	5.3	2.72	0.32119	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99372	0.9779	H	0.99090	4.425	0.48571	D	0.999672	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98314	1.0525	10	0.87932	D	0	-24.9066	12.6251	0.56626	0.0:0.0:0.2622:0.7378	.	524;565	E9PGM4;Q04446	.;GLGB_HUMAN	W	565;616;524;328	ENSP00000410833:R565W;ENSP00000419638:R524W	ENSP00000264326:R616W	R	-	1	2	GBE1	81668862	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	1.150000	0.31639	0.953000	0.37825	-0.275000	0.10095	CGG		0.383	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2			14	33	0	0	0	0.001855	0	14	33				
EPHA3	2042	broad.mit.edu	37	3	89480412	89480412	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:89480412G>T	ENST00000336596.2	+	13	2474	c.2249G>T	c.(2248-2250)cGg>cTg	p.R750L	EPHA3_ENST00000494014.1_Missense_Mutation_p.R750L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	750	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.R750L(2)|p.R750Q(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CTCGCTGCTCGGAACATCTTG	0.488										TSP Lung(6;0.00050)																													uc003dqy.2		NA																	4	Substitution - Missense(4)		lung(2)|large_intestine(1)|endometrium(1)	lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(2248-2250)CGG>CTG		ephrin receptor EphA3 isoform a precursor							161.0	145.0	150.0					3																	89480412		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89480412G>T	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2249G>T	3.37:g.89480412G>T	ENSP00000337451:p.Arg750Leu	TSP Lung(6;0.00050)				EPHA3_uc010hon.1_RNA	p.R750L	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	13	2474	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	750			Cytoplasmic (Potential).|Protein kinase.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.2249G>T	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	33	5.210779	0.95069	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	D;D	0.87729	-2.29;-2.29	5.33	5.33	0.75918	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94288	0.8165	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94155	0.7409	9	.	.	.	.	19.3726	0.94495	0.0:0.0:1.0:0.0	.	750	P29320	EPHA3_HUMAN	L	750	ENSP00000337451:R750L;ENSP00000419190:R750L	.	R	+	2	0	EPHA3	89563102	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.813000	0.99286	2.648000	0.89879	0.585000	0.79938	CGG		0.488	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		19	36	1	0	1.67942e-08	0.006122	1.99004e-08	19	36				
OR5H1	26341	broad.mit.edu	37	3	97851886	97851886	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:97851886G>T	ENST00000354565.2	+	1	345	c.345G>T	c.(343-345)ttG>ttT	p.L115F	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L115F(2)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GTTTTCTCTTGGCAACGATGG	0.383																																							uc011bgt.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(343-345)TTG>TTT		olfactory receptor, family 5, subfamily H,							161.0	155.0	157.0					3																	97851886		2202	4299	6501	SO:0001583	missense	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97851886G>T	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.345G>T	3.37:g.97851886G>T	ENSP00000346575:p.Leu115Phe						p.L115F	NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN			1	345	+			115			Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000354565.2	37	c.345G>T	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	G	9.305	1.054107	0.19907	.	.	ENSG00000231192	ENST00000354565	T	0.02301	4.35	3.57	2.65	0.31530	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37437	N	0.002083	T	0.11707	0.0285	M	0.87682	2.9	0.09310	N	1	D	0.89917	1.0	D	0.74023	0.982	T	0.01036	-1.1473	10	0.72032	D	0.01	.	9.0713	0.36493	0.1192:0.0:0.8808:0.0	.	115	A6NKK0	OR5H1_HUMAN	F	115	ENSP00000346575:L115F	ENSP00000346575:L115F	L	+	3	2	OR5H1	99334576	0.003000	0.15002	0.925000	0.36789	0.064000	0.16182	0.217000	0.17603	1.818000	0.53035	0.195000	0.17529	TTG		0.383	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		67	217	1	0	2.3441e-25	0.00361	4.16025e-25	67	217				
ST3GAL6	10402	broad.mit.edu	37	3	98503797	98503797	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:98503797G>T	ENST00000483910.1	+	6	633	c.344G>T	c.(343-345)tGt>tTt	p.C115F	ST3GAL6_ENST00000394162.1_Missense_Mutation_p.C115F|ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000265261.6_Intron	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	115					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)	p.C115F(2)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						AGCATACCCTGTAAAAAGTGT	0.368																																							uc003dsz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(343-345)TGT>TTT		alpha2,3-sialyltransferase VI							96.0	102.0	100.0					3																	98503797		2203	4300	6503	SO:0001583	missense	10402				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity	g.chr3:98503797G>T	AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"""Sialyltransferases"""	18080	protein-coding gene	gene with protein product		607156	"""sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"""	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.344G>T	3.37:g.98503797G>T	ENSP00000417376:p.Cys115Phe					ST3GAL6_uc003dsy.2_Missense_Mutation_p.C29F|ST3GAL6_uc003dta.2_Intron|ST3GAL6_uc003dtb.2_5'UTR|ST3GAL6_uc003dtc.2_Missense_Mutation_p.C115F|ST3GAL6_uc010hpd.2_Missense_Mutation_p.C168F	p.C115F	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN			6	580	+			115			Lumenal (Potential).		B2RCH2|B3KMI1|D3DN39|F8W6U0	Missense_Mutation	SNP	ENST00000483910.1	37	c.344G>T	CCDS2933.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.79|17.79	3.476909|3.476909	0.63849|0.63849	.|.	.|.	ENSG00000064225|ENSG00000064225	ENST00000483910;ENST00000486334;ENST00000394162;ENST00000492254;ENST00000477574;ENST00000485145|ENST00000460774	T;T;T;T;T;T|.	0.34472|.	1.36;1.36;1.36;1.36;1.36;1.36|.	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72463|0.72463	0.3463|0.3463	L|L	0.59912|0.59912	1.85|1.85	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.74041|0.74041	-0.3792|-0.3792	10|6	0.59425|0.66056	D|D	0.04|0.02	-6.7464|-6.7464	16.393|16.393	0.83546|0.83546	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	138;115|.	C9J480;Q9Y274|.	.;SIA10_HUMAN|.	F|L	115;115;115;138;80;29|94	ENSP00000417376:C115F;ENSP00000418896:C115F;ENSP00000377717:C115F;ENSP00000417201:C138F;ENSP00000419987:C80F;ENSP00000419202:C29F|.	ENSP00000377717:C115F|ENSP00000419209:V94L	C|V	+|+	2|1	0|0	ST3GAL6|ST3GAL6	99986487|99986487	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.715000|0.715000	0.41141|0.41141	4.703000|4.703000	0.61824|0.61824	2.797000|2.797000	0.96272|0.96272	0.655000|0.655000	0.94253|0.94253	TGT|GTA		0.368	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353013.2	NM_006100		30	83	1	0	2.2171e-23	0.009535	3.80627e-23	30	83				
TBC1D23	55773	broad.mit.edu	37	3	100002603	100002603	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:100002603C>A	ENST00000394144.4	+	4	431	c.424C>A	c.(424-426)Cgc>Agc	p.R142S	TBC1D23_ENST00000344949.5_Missense_Mutation_p.R142S|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Intron	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	142	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)	p.R142S(4)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TCAACTGCCACGCAGCGATTT	0.338																																							uc003dtt.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|liver(1)	2						c.(424-426)CGC>AGC		TBC1 domain family, member 23							117.0	110.0	113.0					3																	100002603		2203	4300	6503	SO:0001583	missense	55773					intracellular	Rab GTPase activator activity	g.chr3:100002603C>A	AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.424C>A	3.37:g.100002603C>A	ENSP00000377700:p.Arg142Ser					TBC1D23_uc003dts.2_Missense_Mutation_p.R142S	p.R142S	NM_018309	NP_060779	Q9NUY8	TBC23_HUMAN			4	601	+			142			Rab-GAP TBC.		B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Missense_Mutation	SNP	ENST00000394144.4	37	c.424C>A	CCDS56265.1	.	.	.	.	.	.	.	.	.	.	C	30	5.051127	0.93740	.	.	ENSG00000036054	ENST00000485687;ENST00000344949;ENST00000394144;ENST00000471098	T;T;T;T	0.04156	3.69;3.69;3.69;3.69	5.96	5.09	0.68999	Rab-GAP/TBC domain (3);	0.088841	0.85682	D	0.000000	T	0.18257	0.0438	M	0.76328	2.33	0.80722	D	1	D;D	0.63046	0.992;0.99	P;P	0.59948	0.866;0.79	T	0.00630	-1.1636	9	.	.	.	.	15.2869	0.73835	0.0:0.9327:0.0:0.0673	.	142;142	Q9NUY8;Q9NUY8-2	TBC23_HUMAN;.	S	150;142;142;128	ENSP00000417487:R150S;ENSP00000340693:R142S;ENSP00000377700:R142S;ENSP00000418714:R128S	.	R	+	1	0	TBC1D23	101485293	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.555000	0.67301	1.528000	0.49103	0.591000	0.81541	CGC		0.338	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309		15	93	1	0	1.67942e-08	0.006122	1.99004e-08	15	93				
ALCAM	214	broad.mit.edu	37	3	105271017	105271017	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:105271017G>C	ENST00000306107.5	+	13	2037	c.1537G>C	c.(1537-1539)Gag>Cag	p.E513Q	ALCAM_ENST00000389927.4_Missense_Mutation_p.E235Q|ALCAM_ENST00000472644.2_Intron|ALCAM_ENST00000486979.2_Missense_Mutation_p.E462Q	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	513					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)	p.E513Q(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TGAGGCAGACGAGATAAGTGG	0.338																																							uc003dvx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)	3						c.(1537-1539)GAG>CAG		activated leukocyte cell adhesion molecule							96.0	88.0	91.0					3																	105271017		2203	4299	6502	SO:0001583	missense	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105271017G>C	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.1537G>C	3.37:g.105271017G>C	ENSP00000305988:p.Glu513Gln					ALCAM_uc003dvw.1_Missense_Mutation_p.E513Q|ALCAM_uc003dvy.2_Intron|ALCAM_uc010hpp.2_Missense_Mutation_p.E235Q|ALCAM_uc003dvz.2_Missense_Mutation_p.E147Q	p.E513Q	NM_001627	NP_001618	Q13740	CD166_HUMAN			13	2077	+			513			Extracellular (Potential).		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	c.1537G>C	CCDS33810.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.71|14.71	2.617057|2.617057	0.46736|0.46736	.|.	.|.	ENSG00000170017|ENSG00000170017	ENST00000306107;ENST00000486979;ENST00000389927|ENST00000465413	T;T;T|.	0.59638|.	0.38;0.25;1.1|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.525601|.	0.22446|.	N|.	0.059951|.	T|T	0.37571|0.37571	0.1008|0.1008	N|N	0.08118|0.08118	0|0	0.30512|0.30512	N|N	0.769346|0.769346	P;B|.	0.38280|.	0.625;0.089|.	B;B|.	0.31390|.	0.129;0.052|.	T|T	0.29610|0.29610	-1.0006|-1.0006	10|5	0.30078|.	T|.	0.28|.	-0.8595|-0.8595	19.8379|19.8379	0.96666|0.96666	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	235;513|.	Q6ZS95;Q13740|.	.;CD166_HUMAN|.	Q|P	513;462;235|273	ENSP00000305988:E513Q;ENSP00000418213:E462Q;ENSP00000374577:E235Q|.	ENSP00000305988:E513Q|.	E|R	+|+	1|2	0|0	ALCAM|ALCAM	106753707|106753707	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.742000|4.742000	0.62103|0.62103	2.693000|2.693000	0.91896|0.91896	0.650000|0.650000	0.86243|0.86243	GAG|CGA		0.338	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		11	50	0	0	0	0.001368	0	11	50				
PLCXD2	257068	broad.mit.edu	37	3	111432892	111432892	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:111432892T>G	ENST00000477665.1	+	3	1107	c.783T>G	c.(781-783)caT>caG	p.H261Q	PLCXD2_ENST00000472215.1_3'UTR|PLCXD2_ENST00000393934.3_Missense_Mutation_p.H261Q	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	261					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)	p.H261Q(2)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						GCTCCTTCCATGTCTCCCAAG	0.562																																							uc003dya.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(781-783)CAT>CAG		phosphatidylinositol-specific phospholipase C, X							55.0	56.0	55.0					3																	111432892		2203	4300	6503	SO:0001583	missense	257068				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr3:111432892T>G	AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.783T>G	3.37:g.111432892T>G	ENSP00000420686:p.His261Gln					PLCXD2_uc003dyb.2_Missense_Mutation_p.H261Q|PLCXD2_uc003dxz.2_Missense_Mutation_p.H261Q	p.H261Q	NM_001134478	NP_001127950	Q0VAA5	PLCX2_HUMAN			3	1369	+			261					Q96N12	Missense_Mutation	SNP	ENST00000477665.1	37	c.783T>G	CCDS54619.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143233	0.57044	.	.	ENSG00000240891	ENST00000393934;ENST00000477665	.	.	.	5.39	-6.77	0.01727	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	.	.	.	.	T	0.67702	0.2921	M	0.69823	2.125	0.30407	N	0.779458	D;D	0.76494	0.999;0.999	D;D	0.80764	0.991;0.994	T	0.70999	-0.4719	8	0.33940	T	0.23	-18.8748	18.7892	0.91966	0.0:0.2176:0.0:0.7824	.	261;261	Q0VAA5;Q0VAA5-2	PLCX2_HUMAN;.	Q	261	.	ENSP00000377511:H261Q	H	+	3	2	PLCXD2	112915582	0.003000	0.15002	0.251000	0.24312	0.947000	0.59692	-1.422000	0.02453	-2.259000	0.00693	-0.213000	0.12676	CAT		0.562	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354322.1	NM_153268		25	110	0	0	0	0.005443	0	25	110				
SLC9C1	285335	broad.mit.edu	37	3	111870801	111870801	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:111870801G>T	ENST00000305815.5	-	28	3679	c.3427C>A	c.(3427-3429)Cac>Aac	p.H1143N	SLC9C1_ENST00000487372.1_Missense_Mutation_p.H1095N	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1143					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.H1143N(2)									GCGGCACTGTGTGCTCCATCC	0.522																																							uc003dyu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)	5						c.(3427-3429)CAC>AAC		sperm-specific sodium proton exchanger							64.0	67.0	66.0					3																	111870801		2203	4300	6503	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111870801G>T	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.3427C>A	3.37:g.111870801G>T	ENSP00000306627:p.His1143Asn					SLC9A10_uc011bhu.1_Missense_Mutation_p.H406N|SLC9A10_uc010hqc.2_Missense_Mutation_p.H1095N	p.H1143N	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN			28	3649	-			1143					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.3427C>A	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432346	0.25813	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.77877	-1.12;-1.13	2.29	-0.699	0.11277	.	.	.	.	.	T	0.51092	0.1654	N	0.08118	0	0.09310	N	1	P;B	0.35982	0.531;0.396	B;B	0.29785	0.107;0.05	T	0.41342	-0.9514	9	0.46703	T	0.11	.	4.9928	0.14224	0.5436:0.0:0.4564:0.0	.	1095;1143	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	N	1143;1095	ENSP00000306627:H1143N;ENSP00000420688:H1095N	ENSP00000306627:H1143N	H	-	1	0	SLC9A10	113353491	0.000000	0.05858	0.035000	0.18076	0.638000	0.38207	-0.240000	0.08952	-0.203000	0.10251	0.591000	0.81541	CAC		0.522	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		25	73	1	0	9.57634e-11	0.00333	1.23707e-10	25	73				
FSTL1	11167	broad.mit.edu	37	3	120129820	120129820	+	Missense_Mutation	SNP	C	C	T	rs149509930		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:120129820C>T	ENST00000295633.3	-	5	666	c.310G>A	c.(310-312)Gta>Ata	p.V104I	FSTL1_ENST00000424703.2_Missense_Mutation_p.V69I	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	104					BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.V104I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		GATGGACTTACGGATTTCTTC	0.393													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21714	0.0		0.0	False		,,,				2504	0.0						uc003eds.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(310-312)GTA>ATA		follistatin-like 1 precursor		C	ILE/VAL	0,4406		0,0,2203	84.0	86.0	85.0		310	3.5	0.0	3	dbSNP_134	85	2,8598	2.2+/-6.3	0,2,4298	yes	missense	FSTL1	NM_007085.4	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	104/309	120129820	2,13004	2203	4300	6503	SO:0001583	missense	11167				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding	g.chr3:120129820C>T	U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"""EF-hand domain containing"""	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.310G>A	3.37:g.120129820C>T	ENSP00000295633:p.Val104Ile					FSTL1_uc011bjh.1_Missense_Mutation_p.V69I|FSTL1_uc010hrb.2_Missense_Mutation_p.V104I	p.V104I	NM_007085	NP_009016	Q12841	FSTL1_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	5	485	-			104					A8K523|B4DTT5|D3DN90|Q549Z0	Missense_Mutation	SNP	ENST00000295633.3	37	c.310G>A	CCDS2998.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	12.41	1.929520	0.34096	0.0	2.33E-4	ENSG00000163430	ENST00000295633;ENST00000539471;ENST00000424703;ENST00000469005	T;T;T	0.23348	2.52;1.91;2.53	5.38	3.46	0.39613	.	0.412643	0.27473	N	0.019218	T	0.14830	0.0358	N	0.19112	0.55	0.09310	N	1	B;B;B	0.22909	0.077;0.037;0.064	B;B;B	0.04013	0.001;0.001;0.001	T	0.15235	-1.0444	10	0.37606	T	0.19	-7.3406	9.3685	0.38239	0.1426:0.782:0.0:0.0754	.	69;104;104	B4DTT5;A8K523;Q12841	.;.;FSTL1_HUMAN	I	104;47;69;104	ENSP00000295633:V104I;ENSP00000394355:V69I;ENSP00000418505:V104I	ENSP00000295633:V104I	V	-	1	0	FSTL1	121612510	0.016000	0.18221	0.031000	0.17742	0.989000	0.77384	0.673000	0.25203	1.265000	0.44215	0.650000	0.86243	GTA		0.393	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355399.1	NM_007085		5	122	0	0	0	0.000602	0	5	122				
SEMA5B	54437	broad.mit.edu	37	3	122631817	122631817	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:122631817G>T	ENST00000357599.3	-	18	2984	c.2598C>A	c.(2596-2598)tcC>tcA	p.S866S	SEMA5B_ENST00000195173.4_Silent_p.S865S|SEMA5B_ENST00000451055.2_Silent_p.S920S	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	866	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S920S(3)|p.S866S(3)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CGCAGTCCCGGGAGCAGGACG	0.741																																							uc003efz.1		NA																	6	Substitution - coding silent(6)		lung(6)	ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(2596-2598)TCC>TCA		semaphorin 5B isoform 1							14.0	19.0	17.0					3																	122631817		2195	4293	6488	SO:0001819	synonymous_variant	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122631817G>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.2598C>A	3.37:g.122631817G>T						SEMA5B_uc011bju.1_Silent_p.S808S|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.S866S|SEMA5B_uc003efy.1_5'Flank	p.S866S	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	18	2902	-			866			Extracellular (Potential).|TSP type-1 3.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	ENST00000357599.3	37	c.2598C>A	CCDS35491.1																																																																																				0.741	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		7	33	1	0	0.00307968	0.00308	0.00318894	7	33				
MUC13	56667	broad.mit.edu	37	3	124646418	124646418	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:124646418C>A	ENST00000311075.3	-	2	510	c.472G>T	c.(472-474)Ggc>Tgc	p.G158C	MUC13_ENST00000497378.1_5'Flank	NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	159	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)	p.G158C(2)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						AAAGCGGTGCCAGTGGGAGGC	0.473																																							uc003ehq.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(472-474)GGC>TGC		mucin 13, epithelial transmembrane							209.0	186.0	194.0					3																	124646418		2203	4300	6503	SO:0001583	missense	56667					extracellular region|integral to membrane|plasma membrane		g.chr3:124646418C>A	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.472G>T	3.37:g.124646418C>A	ENSP00000312235:p.Gly158Cys						p.G158C	NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN			2	496	-			158			Thr-rich.|Extracellular (Potential).		Q6UWD9|Q9NXT5	Missense_Mutation	SNP	ENST00000311075.3	37	c.472G>T		.	.	.	.	.	.	.	.	.	.	C	11.04	1.522426	0.27211	.	.	ENSG00000173702	ENST00000311075;ENST00000478191	T;T	0.47177	2.45;0.85	2.24	-0.681	0.11342	.	9.030270	0.00166	N	0.000002	T	0.32285	0.0824	N	0.14661	0.345	0.09310	N	1	P	0.47762	0.9	B	0.43783	0.431	T	0.16482	-1.0401	10	0.52906	T	0.07	2.337	2.6817	0.05095	0.0:0.1695:0.2761:0.5544	.	158	Q9H3R2	MUC13_HUMAN	C	158;28	ENSP00000312235:G158C;ENSP00000418660:G28C	ENSP00000312235:G158C	G	-	1	0	MUC13	126129108	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.528000	0.06193	-0.067000	0.12976	-0.290000	0.09829	GGC		0.473	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		65	219	1	0	1.84395e-34	0.00361	3.55265e-34	65	219				
ZXDC	79364	broad.mit.edu	37	3	126180702	126180702	+	Silent	SNP	C	C	A	rs367640578		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:126180702C>A	ENST00000389709.3	-	6	1856	c.1803G>T	c.(1801-1803)gtG>gtT	p.V601V	ZXDC_ENST00000336332.5_Silent_p.V601V	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	601	Required for transcriptional activation.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V601V(4)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TCACAGTCTGCACGTCATCCA	0.567																																							uc003eiv.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)	1						c.(1801-1803)GTG>GTT		ZXD family zinc finger C isoform 1		C	,	0,4372		0,0,2186	94.0	99.0	97.0		1803,1803	-2.6	0.0	3		97	1,8561		0,1,4280	no	coding-synonymous,coding-synonymous	ZXDC	NM_001040653.2,NM_025112.4	,	0,1,6466	AA,AC,CC		0.0117,0.0,0.0077	,	601/711,601/859	126180702	1,12933	2186	4281	6467	SO:0001819	synonymous_variant	79364				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:126180702C>A	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.1803G>T	3.37:g.126180702C>A						ZXDC_uc010hsh.2_RNA|ZXDC_uc003eix.2_Silent_p.V601V	p.V601V	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	6	1857	-			601			Required for transcriptional activation.		C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Silent	SNP	ENST00000389709.3	37	c.1803G>T	CCDS43145.1																																																																																				0.567	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112		54	157	1	0	3.31993e-32	0.00361	6.33439e-32	54	157				
UROC1	131669	broad.mit.edu	37	3	126224636	126224636	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:126224636C>T	ENST00000290868.2	-	8	774	c.721G>A	c.(721-723)Ggg>Agg	p.G241R	UROC1_ENST00000383579.3_Missense_Mutation_p.G241R	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	241					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)	p.G241R(4)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		AAGACCTTCCCAGCCAAGTCC	0.637																																							uc003eiz.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(721-723)GGG>AGG		urocanase domain containing 1 isoform 1							74.0	61.0	66.0					3																	126224636		2203	4300	6503	SO:0001583	missense	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126224636C>T	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.721G>A	3.37:g.126224636C>T	ENSP00000290868:p.Gly241Arg					UROC1_uc010hsi.1_Missense_Mutation_p.G241R	p.G241R	NM_144639	NP_653240	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	8	753	-			241					E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	c.721G>A	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	c	22.9	4.355917	0.82243	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.71222	-0.55;-0.55	4.68	3.8	0.43715	Urocanase domain (2);	0.000000	0.85682	D	0.000000	D	0.87720	0.6248	H	0.95950	3.745	0.80722	D	1	P;D	0.89917	0.945;1.0	P;D	0.91635	0.892;0.999	D	0.89330	0.3646	10	0.87932	D	0	-24.2932	10.6498	0.45642	0.0:0.9039:0.0:0.096	.	241;241	E9PE13;Q96N76	.;HUTU_HUMAN	R	241	ENSP00000290868:G241R;ENSP00000373073:G241R	ENSP00000290868:G241R	G	-	1	0	UROC1	127707326	1.000000	0.71417	0.799000	0.32177	0.971000	0.66376	7.008000	0.76341	0.960000	0.38005	0.586000	0.80456	GGG		0.637	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		16	67	0	0	0	0.008871	0	16	67				
MCM2	4171	broad.mit.edu	37	3	127324962	127324962	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:127324962G>T	ENST00000265056.7	+	5	919	c.675G>T	c.(673-675)gaG>gaT	p.E225D		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	225	Interaction with KAT7. {ECO:0000250}.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)	p.E225D(1)		ovary(3)|skin(2)|stomach(1)	6						CCCTTCTAGAGAACCGTGAGA	0.602																																							uc003ejp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(673-675)GAG>GAT		minichromosome maintenance complex component 2							57.0	61.0	60.0					3																	127324962		2203	4300	6503	SO:0001630	splice_region_variant	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127324962G>T	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.674-1G>T	3.37:g.127324962G>T						MCM2_uc011bkm.1_Missense_Mutation_p.E95D|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.E109D	p.E225D	NM_004526	NP_004517	P49736	MCM2_HUMAN			5	732	+			225			Interaction with MYST2 (By similarity).		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	c.675G>T	CCDS3043.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.161|5.161	0.215283|0.215283	0.09810|0.09810	.|.	.|.	ENSG00000073111|ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142|ENST00000491422	T|.	0.11930|.	2.73|.	5.1|5.1	3.31|3.31	0.37934|0.37934	Nucleic acid-binding, OB-fold-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56262|0.56262	0.1973|0.1973	L|L	0.45051|0.45051	1.395|1.395	0.58432|0.58432	D|D	0.999999|0.999999	D;B;B|.	0.61697|.	0.99;0.001;0.001|.	D;B;B|.	0.72982|.	0.979;0.003;0.003|.	T|T	0.48917|0.48917	-0.8992|-0.8992	10|5	0.13108|.	T|.	0.6|.	.|.	11.3099|11.3099	0.49358|0.49358	0.1461:0.0:0.8539:0.0|0.1461:0.0:0.8539:0.0	.|.	206;95;225|.	F5H1E9;B4DSV5;P49736|.	.;.;MCM2_HUMAN|.	D|I	225;129;206|88	ENSP00000265056:E225D|.	ENSP00000265056:E225D|.	E|R	+|+	3|2	2|0	MCM2|MCM2	128807652|128807652	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.258000|0.258000	0.26162|0.26162	3.757000|3.757000	0.55212|0.55212	0.550000|0.550000	0.28991|0.28991	0.591000|0.591000	0.81541|0.81541	GAG|AGA		0.602	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1		Missense_Mutation	29	83	1	0	7.01153e-11	0.007291	9.08732e-11	29	83				
COL6A6	131873	broad.mit.edu	37	3	130313158	130313158	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:130313158C>A	ENST00000358511.6	+	17	4535	c.4504C>A	c.(4504-4506)Cgt>Agt	p.R1502S	COL6A6_ENST00000453409.2_Missense_Mutation_p.R1502S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1502	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.R1502S(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCCTGGTGACCGTGGAGCAAA	0.463																																							uc010htl.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(4504-4506)CGT>AGT		collagen type VI alpha 6 precursor							76.0	82.0	80.0					3																	130313158		1867	4091	5958	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130313158C>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.4504C>A	3.37:g.130313158C>A	ENSP00000351310:p.Arg1502Ser					COL6A6_uc003eni.3_5'UTR	p.R1502S	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			17	4535	+			1502			Triple-helical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.4504C>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	5.280	0.237087	0.10023	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.93189	-3.18;-3.18	5.17	4.24	0.50183	.	1.191030	0.06333	N	0.706531	D	0.90397	0.6994	L	0.53780	1.695	0.23848	N	0.996673	B	0.14438	0.01	B	0.10450	0.005	T	0.76564	-0.2913	10	0.17832	T	0.49	.	7.7749	0.29030	0.0:0.7424:0.1664:0.0911	.	1502	A6NMZ7	CO6A6_HUMAN	S	1502	ENSP00000351310:R1502S;ENSP00000399236:R1502S	ENSP00000351310:R1502S	R	+	1	0	COL6A6	131795848	0.004000	0.15560	0.934000	0.37439	0.208000	0.24298	0.898000	0.28404	2.575000	0.86900	0.650000	0.86243	CGT		0.463	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		29	101	1	0	3.73148e-12	0.007291	5.12265e-12	29	101				
PIK3R4	30849	broad.mit.edu	37	3	130425910	130425910	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:130425910G>A	ENST00000356763.3	-	11	3160	c.2603C>T	c.(2602-2604)cCa>cTa	p.P868L		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	868					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P868L(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CATGTTTGGTGGGTCCAGTGA	0.443																																							uc003enj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						c.(2602-2604)CCA>CTA		phosphoinositide-3-kinase, regulatory subunit 4							133.0	117.0	122.0					3																	130425910		2203	4300	6503	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130425910G>A	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.2603C>T	3.37:g.130425910G>A	ENSP00000349205:p.Pro868Leu						p.P868L	NM_014602	NP_055417	Q99570	PI3R4_HUMAN			11	3184	-			868					Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.2603C>T	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.683463	0.68157	.	.	ENSG00000196455	ENST00000356763	T	0.05580	3.42	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.09202	0.0227	L	0.51422	1.61	0.80722	D	1	B	0.22480	0.07	B	0.18263	0.021	T	0.18745	-1.0327	10	0.26408	T	0.33	-13.5571	18.7798	0.91926	0.0:0.0:1.0:0.0	.	868	Q99570	PI3R4_HUMAN	L	868	ENSP00000349205:P868L	ENSP00000349205:P868L	P	-	2	0	PIK3R4	131908600	1.000000	0.71417	0.772000	0.31596	0.689000	0.40095	9.458000	0.97634	2.439000	0.82584	0.460000	0.39030	CCA		0.443	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		15	52	0	0	0	0.004007	0	15	52				
CEP63	80254	broad.mit.edu	37	3	134278166	134278166	+	Silent	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:134278166T>C	ENST00000337090.3	+	14	2021	c.1848T>C	c.(1846-1848)tcT>tcC	p.S616S	CEP63_ENST00000383229.3_Intron|CEP63_ENST00000606977.1_Silent_p.S616S|CEP63_ENST00000513612.2_Silent_p.S616S|CEP63_ENST00000354446.3_Intron|CEP63_ENST00000332047.5_Intron			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	616					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)		p.S616S(2)		kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTTCCTACTCTCTATGTAAAA	0.438																																							uc003eqo.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1846-1848)TCT>TCC		centrosomal protein 63 isoform a							132.0	129.0	130.0					3																	134278166		2203	4300	6503	SO:0001819	synonymous_variant	80254				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	g.chr3:134278166T>C	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.1848T>C	3.37:g.134278166T>C						CEP63_uc003eql.1_Intron|CEP63_uc003eqm.2_Intron|CEP63_uc003eqn.1_Intron	p.S616S	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN			15	2297	+			616					D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Silent	SNP	ENST00000337090.3	37	c.1848T>C	CCDS3086.1																																																																																				0.438	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180		74	220	0	0	0	0.00361	0	74	220				
PCOLCE2	26577	broad.mit.edu	37	3	142537297	142537297	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:142537297G>T	ENST00000295992.3	-	9	1434	c.1128C>A	c.(1126-1128)taC>taA	p.Y376*	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.H297N	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	376	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)	p.Y376*(2)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CCATAATAATGTAATTTAGAC	0.363																																							uc003evd.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1126-1128)TAC>TAA		procollagen C-endopeptidase enhancer 2							85.0	82.0	83.0					3																	142537297		2203	4300	6503	SO:0001587	stop_gained	26577					extracellular region	collagen binding|heparin binding|peptidase activator activity	g.chr3:142537297G>T	AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.1128C>A	3.37:g.142537297G>T	ENSP00000295992:p.Tyr376*						p.Y376*	NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN			9	1324	-			376			NTR.		B2RCH9|D3DNG4|Q9BRH3	Nonsense_Mutation	SNP	ENST00000295992.3	37	c.1128C>A	CCDS3127.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.282474|6.282474	0.97440|0.97440	.|.	.|.	ENSG00000163710|ENSG00000163710	ENST00000485766|ENST00000295992	T|.	0.21932|.	1.98|.	5.06|5.06	2.25|2.25	0.28309|0.28309	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.13670|.	0.0331|.	.|.	.|.	.|.	0.27340|0.27340	N|N	0.956536|0.956536	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.31724|.	-0.9933|.	6|.	0.24483|0.02654	T|T	0.36|1	-15.9127|-15.9127	9.604|9.604	0.39622|0.39622	0.2907:0.0:0.7093:0.0|0.2907:0.0:0.7093:0.0	.|.	.|.	.|.	.|.	N|X	297|376	ENSP00000419842:H297N|.	ENSP00000419842:H297N|ENSP00000295992:Y376X	H|Y	-|-	1|3	0|2	PCOLCE2|PCOLCE2	144019987|144019987	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.921000|0.921000	0.55340|0.55340	4.573000|4.573000	0.60893|0.60893	0.537000|0.537000	0.28751|0.28751	0.655000|0.655000	0.94253|0.94253	CAT|TAC		0.363	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	NM_013363		40	102	1	0	3.61848e-18	0.007835	5.72562e-18	40	102				
U2SURP	23350	broad.mit.edu	37	3	142747463	142747463	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:142747463A>T	ENST00000473835.2	+	16	1675	c.1585A>T	c.(1585-1587)Agt>Tgt	p.S529C	U2SURP_ENST00000493598.2_Missense_Mutation_p.S528C|U2SURP_ENST00000397933.2_Missense_Mutation_p.S120C	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	529					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S529C(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						AGAGGAACCTAGTAAAAAGGG	0.333																																						Colon(87;897 1320 15089 19747 35974)	uc003evh.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1585-1587)AGT>TGT		U2-associated SR140 protein							108.0	102.0	104.0					3																	142747463		1817	4077	5894	SO:0001583	missense	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142747463A>T	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.1585A>T	3.37:g.142747463A>T	ENSP00000418563:p.Ser529Cys					SR140_uc003evi.1_Missense_Mutation_p.S120C|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Missense_Mutation_p.S528C|SR140_uc003evl.1_Missense_Mutation_p.S96C	p.S529C	NM_001080415	NP_001073884	O15042	SR140_HUMAN			16	1684	+			529					A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	c.1585A>T	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	A	14.59	2.579627	0.46006	.	.	ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000397933;ENST00000493598;ENST00000480029	T;T	0.11930	2.73;2.73	5.86	5.86	0.93980	.	0.232564	0.56097	D	0.000024	T	0.13884	0.0336	L	0.35854	1.095	0.38024	D	0.934956	B;B;B	0.24043	0.02;0.096;0.011	B;B;B	0.18561	0.015;0.022;0.007	T	0.03969	-1.0988	10	0.52906	T	0.07	-11.8489	16.2392	0.82399	1.0:0.0:0.0:0.0	.	528;120;529	O15042-2;O15042-3;O15042	.;.;SR140_HUMAN	C	529;529;120;528;96	ENSP00000418563:S529C;ENSP00000422011:S528C	ENSP00000322376:S529C	S	+	1	0	U2SURP	144230153	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.034000	0.57289	2.229000	0.72834	0.528000	0.53228	AGT		0.333	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		24	55	0	0	0	0.00278	0	24	55				
CHST2	9435	broad.mit.edu	37	3	142841221	142841221	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:142841221C>A	ENST00000309575.3	+	2	2947	c.1563C>A	c.(1561-1563)agC>agA	p.S521R		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	521					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.S521R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						AAGACCTCAGCAAGACCCTGC	0.527																																							uc003evm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1561-1563)AGC>AGA		carbohydrate (N-acetylglucosamine-6-O)							23.0	25.0	24.0					3																	142841221		2203	4300	6503	SO:0001583	missense	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142841221C>A	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.1563C>A	3.37:g.142841221C>A	ENSP00000307911:p.Ser521Arg						p.S521R	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN			2	2452	+			521	S->A: No effect.		Lumenal (Potential).		D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	37	c.1563C>A	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416032	0.42817	.	.	ENSG00000175040	ENST00000309575	D	0.96685	-4.09	4.74	3.84	0.44239	.	0.000000	0.85682	D	0.000000	D	0.97396	0.9148	M	0.81341	2.54	0.54753	D	0.999986	D	0.65815	0.995	P	0.60682	0.878	D	0.97244	0.9893	10	0.59425	D	0.04	-16.1685	12.2017	0.54331	0.0:0.9139:0.0:0.0861	.	521	Q9Y4C5	CHST2_HUMAN	R	521	ENSP00000307911:S521R	ENSP00000307911:S521R	S	+	3	2	CHST2	144323911	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.771000	0.47670	1.139000	0.42245	0.609000	0.83330	AGC		0.527	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		13	37	1	0	2.61681e-11	0.00245	3.43103e-11	13	37				
HPS3	84343	broad.mit.edu	37	3	148863150	148863150	+	Missense_Mutation	SNP	C	C	G	rs575943583		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:148863150C>G	ENST00000296051.2	+	5	1120	c.980C>G	c.(979-981)aCa>aGa	p.T327R	HPS3_ENST00000460120.1_Missense_Mutation_p.T162R	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	327					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.T327R(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GGTTCTCTTACATCTGATGGA	0.343									Hermansky-Pudlak syndrome																														uc003ewu.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)	6						c.(979-981)ACA>AGA		Hermansky-Pudlak syndrome 3 protein							89.0	95.0	92.0					3																	148863150		2203	4300	6503	SO:0001583	missense	84343	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148863150C>G	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.980C>G	3.37:g.148863150C>G	ENSP00000296051:p.Thr327Arg					HPS3_uc003ewt.1_Missense_Mutation_p.T327R|HPS3_uc011bnq.1_Missense_Mutation_p.T162R	p.T327R	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		5	1120	+			327					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	c.980C>G	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	C	3.005	-0.205089	0.06180	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.63417	-0.04;-0.04	5.11	4.21	0.49690	.	0.696139	0.13396	N	0.391026	T	0.55481	0.1923	L	0.51422	1.61	0.09310	N	1	B;B	0.29909	0.261;0.122	B;B	0.27076	0.076;0.047	T	0.39623	-0.9605	10	0.15499	T	0.54	-2.1028	15.0736	0.72059	0.1429:0.8571:0.0:0.0	.	162;327	G5E9V4;Q969F9	.;HPS3_HUMAN	R	327;162	ENSP00000296051:T327R;ENSP00000418230:T162R	ENSP00000296051:T327R	T	+	2	0	HPS3	150345840	0.001000	0.12720	0.018000	0.16275	0.326000	0.28443	1.520000	0.35899	1.238000	0.43771	0.650000	0.86243	ACA		0.343	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		24	87	0	0	0	0.003954	0	24	87				
MED12L	116931	broad.mit.edu	37	3	151134112	151134112	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:151134112C>T	ENST00000474524.1	+	41	6243	c.6205C>T	c.(6205-6207)Cag>Tag	p.Q2069*	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2069	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q2069*(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			Gcagcagccccagcagcccca	0.527																																							uc003eyp.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(6205-6207)CAG>TAG		mediator of RNA polymerase II transcription,							23.0	27.0	26.0					3																	151134112		2203	4300	6503	SO:0001587	stop_gained	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151134112C>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6205C>T	3.37:g.151134112C>T	ENSP00000417235:p.Gln2069*					MED12L_uc011bnz.1_Intron	p.Q2069*	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		41	6243	+			2069			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Nonsense_Mutation	SNP	ENST00000474524.1	37	c.6205C>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	47	13.025986	0.99714	.	.	ENSG00000144893	ENST00000474524	.	.	.	4.65	4.65	0.58169	.	1.210850	0.05825	N	0.616548	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	1.2604	14.5467	0.68035	0.0:1.0:0.0:0.0	.	.	.	.	X	2069	.	ENSP00000417235:Q2069X	Q	+	1	0	MED12L	152616802	0.895000	0.30542	0.997000	0.53966	0.954000	0.61252	3.513000	0.53414	2.385000	0.81259	0.591000	0.81541	CAG		0.527	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		22	41	0	0	0	0.002299	0	22	41				
ZBBX	79740	broad.mit.edu	37	3	167031857	167031857	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:167031857C>A	ENST00000392766.2	-	16	1662	c.1322G>T	c.(1321-1323)gGc>gTc	p.G441V	ZBBX_ENST00000455345.2_Missense_Mutation_p.G441V|ZBBX_ENST00000307529.5_Missense_Mutation_p.G441V|ZBBX_ENST00000469220.1_5'Flank|ZBBX_ENST00000392764.1_Missense_Mutation_p.G412V|ZBBX_ENST00000392767.2_Missense_Mutation_p.G441V	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	441						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.G441V(4)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTGATGGATGCCATTTTCATA	0.299																																							uc003fep.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(1321-1323)GGC>GTC		zinc finger, B-box domain containing							108.0	101.0	103.0					3																	167031857		1826	4078	5904	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167031857C>A	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1322G>T	3.37:g.167031857C>A	ENSP00000376519:p.Gly441Val					ZBBX_uc011bpc.1_Missense_Mutation_p.G441V|ZBBX_uc003feq.2_Missense_Mutation_p.G412V	p.G441V	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN			16	1645	-			441					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.1322G>T	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	C	2.040	-0.420195	0.04734	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.09817	3.11;3.11;3.11;3.11;2.94	5.29	-1.53	0.08611	.	0.790470	0.11571	N	0.550755	T	0.05318	0.0141	N	0.14661	0.345	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.04013	0.001;0.0	T	0.35943	-0.9768	10	0.59425	D	0.04	-0.2793	4.1738	0.10343	0.1593:0.3629:0.0:0.4778	.	441;441	A8MT70-2;A8MT70	.;ZBBX_HUMAN	V	441;441;441;441;412	ENSP00000376519:G441V;ENSP00000376520:G441V;ENSP00000390232:G441V;ENSP00000305065:G441V;ENSP00000376517:G412V	ENSP00000305065:G441V	G	-	2	0	ZBBX	168514551	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.756000	0.04777	0.074000	0.16767	-1.152000	0.01820	GGC		0.299	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		23	108	1	0	6.44725e-10	0.002299	7.9881e-10	23	108				
GHSR	2693	broad.mit.edu	37	3	172163026	172163026	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:172163026G>T	ENST00000241256.2	-	2	1068	c.1026C>A	c.(1024-1026)ccC>ccA	p.P342P		NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	342					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)	p.P342P(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TCTGGGAGAAGGGTTCGAATC	0.478																																					Esophageal Squamous(93;641 1401 20883 29581 34638)	Esophageal Squamous(93;641 1401 20883 29581 34638)	uc003fib.1		NA																	2	Substitution - coding silent(2)		lung(2)	lung(3)|ovary(1)|central_nervous_system(1)	5						c.(1024-1026)CCC>CCA		growth hormone secretagogue receptor isoform 1a							92.0	98.0	96.0					3																	172163026		2203	4300	6503	SO:0001819	synonymous_variant	2693				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	g.chr3:172163026G>T	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.1026C>A	3.37:g.172163026G>T							p.P342P	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		2	1026	-	Ovarian(172;0.00143)|Breast(254;0.197)		342			Cytoplasmic (Potential).		Q14D12|Q6ISR8|Q92848|Q96RJ7	Silent	SNP	ENST00000241256.2	37	c.1026C>A	CCDS3218.1																																																																																				0.478	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122		59	199	1	0	2.47907e-22	0.00361	4.19207e-22	59	199				
NLGN1	22871	broad.mit.edu	37	3	173525608	173525608	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:173525608G>T	ENST00000457714.1	+	4	1061	c.632G>T	c.(631-633)cGa>cTa	p.R211L	NLGN1_ENST00000361589.4_Missense_Mutation_p.R211L|NLGN1_ENST00000545397.1_Missense_Mutation_p.R211L|NLGN1_ENST00000401917.3_Missense_Mutation_p.R251L	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	228					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.R211L(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GTCAACTATCGACTTGGAGTA	0.383																																							uc003fio.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(631-633)CGA>CTA		neuroligin 1							141.0	134.0	136.0					3																	173525608		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173525608G>T	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.632G>T	3.37:g.173525608G>T	ENSP00000392500:p.Arg211Leu					NLGN1_uc010hww.1_Missense_Mutation_p.R251L|NLGN1_uc003fip.1_Missense_Mutation_p.R211L	p.R211L	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		4	1055	+	Ovarian(172;0.0025)		228			Extracellular (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.632G>T	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	32	5.177659	0.94846	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	D;D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72;-2.72	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000003	D	0.97723	0.9253	H	0.99487	4.59	0.80722	D	1	P;D	0.71674	0.889;0.998	P;D	0.67900	0.86;0.954	D	0.99167	1.0863	10	0.87932	D	0	.	19.698	0.96034	0.0:0.0:1.0:0.0	.	251;211	D2X2H5;Q8N2Q7-2	.;.	L	211;211;251;211;251	ENSP00000392500:R211L;ENSP00000354541:R211L;ENSP00000410374:R251L;ENSP00000441108:R211L;ENSP00000385750:R251L	ENSP00000354541:R211L	R	+	2	0	NLGN1	175008302	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.869000	0.99810	2.665000	0.90641	0.557000	0.71058	CGA		0.383	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		39	89	1	0	2.59497e-14	0.007835	3.75889e-14	39	89				
KLHL6	89857	broad.mit.edu	37	3	183225911	183225911	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:183225911C>A	ENST00000341319.3	-	3	880	c.845G>T	c.(844-846)aGg>aTg	p.R282M		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	282					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)			p.R282M(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TGGGCACTGCCTGATGAGAGG	0.537																																							uc003flr.2		NA																	2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3						c.(844-846)AGG>ATG		kelch-like 6							111.0	104.0	106.0					3																	183225911		2203	4300	6503	SO:0001583	missense	89857							g.chr3:183225911C>A	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.845G>T	3.37:g.183225911C>A	ENSP00000341342:p.Arg282Met					KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Missense_Mutation_p.R280M	p.R282M	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		3	903	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		282					B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	ENST00000341319.3	37	c.845G>T	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494134	0.64186	.	.	ENSG00000172578	ENST00000341319	T	0.75367	-0.93	5.24	5.24	0.73138	.	0.043083	0.85682	D	0.000000	D	0.84297	0.5441	M	0.76328	2.33	0.80722	D	1	D	0.63046	0.992	P	0.58077	0.832	D	0.84821	0.0796	10	0.54805	T	0.06	.	19.7171	0.96127	0.0:1.0:0.0:0.0	.	282	Q8WZ60	KLHL6_HUMAN	M	282	ENSP00000341342:R282M	ENSP00000341342:R282M	R	-	2	0	KLHL6	184708605	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.421000	0.80204	2.832000	0.97577	0.655000	0.94253	AGG		0.537	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		37	139	1	0	1.08052e-11	0.004289	1.44804e-11	37	139				
CHRD	8646	broad.mit.edu	37	3	184104632	184104632	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:184104632G>T	ENST00000204604.1	+	17	2442		c.e17-1		CHRD_ENST00000348986.3_Splice_Site|CHRD_ENST00000545352.1_Splice_Site|CHRD_ENST00000450923.1_Splice_Site|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin						BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)	p.?(4)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTCTCTGCAGAGACGAACGG	0.652																																							uc003fov.2		NA																	4	Unknown(4)		lung(4)	skin(2)|ovary(1)	3						c.e17-1		chordin precursor							57.0	44.0	48.0					3																	184104632		2203	4300	6503	SO:0001630	splice_region_variant	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184104632G>T	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.2197-1G>T	3.37:g.184104632G>T						CHRD_uc003fow.2_Splice_Site_p.R363_splice|CHRD_uc003fox.2_Splice_Site_p.R733_splice|CHRD_uc003foy.2_Splice_Site_p.R363_splice|CHRD_uc010hyc.2_Splice_Site_p.R323_splice|CHRD_uc011brr.1_Splice_Site_p.R275_splice	p.R733_splice	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		17	2443	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)							O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Splice_Site	SNP	ENST00000204604.1	37	c.2197_splice	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793544	0.70452	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352;ENST00000342610	.	.	.	4.44	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9202	0.70832	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CHRD	185587326	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	6.844000	0.75390	2.181000	0.69327	0.462000	0.41574	.		0.652	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741	Intron	15	71	1	0	2.23348e-06	0.004007	2.49643e-06	15	71				
MAGEF1	64110	broad.mit.edu	37	3	184429233	184429233	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:184429233C>A	ENST00000317897.3	-	1	603	c.377G>T	c.(376-378)cGg>cTg	p.R126L		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	126	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					extracellular vesicular exosome (GO:0070062)		p.R126L(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			AAAGACATACCGCAGATGCTC	0.488																																							uc003fpa.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(376-378)CGG>CTG		melanoma antigen family F, 1							114.0	121.0	118.0					3																	184429233		2203	4300	6503	SO:0001583	missense	64110							g.chr3:184429233C>A	AF295378	CCDS3269.1	3q13	2008-02-05			ENSG00000177383	ENSG00000177383			29639	protein-coding gene	gene with protein product		609267				11313144	Standard	NM_022149		Approved		uc003fpa.3	Q9HAY2	OTTHUMG00000156712	ENST00000317897.3:c.377G>T	3.37:g.184429233C>A	ENSP00000315064:p.Arg126Leu						p.R126L	NM_022149	NP_071432	Q9HAY2	MAGF1_HUMAN	Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)		1	604	-	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		126			MAGE.		Q9H215	Missense_Mutation	SNP	ENST00000317897.3	37	c.377G>T	CCDS3269.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001428	0.74818	.	.	ENSG00000177383	ENST00000317897	T	0.05649	3.41	4.62	2.81	0.32909	.	0.267267	0.34046	N	0.004306	T	0.03608	0.0103	N	0.03154	-0.405	0.09310	N	1	B	0.30634	0.288	B	0.39094	0.29	T	0.34079	-0.9843	10	0.72032	D	0.01	.	5.9179	0.19065	0.0:0.7007:0.1963:0.103	.	126	Q9HAY2	MAGF1_HUMAN	L	126	ENSP00000315064:R126L	ENSP00000315064:R126L	R	-	2	0	MAGEF1	185911927	0.804000	0.28969	0.265000	0.24526	0.999000	0.98932	0.572000	0.23684	1.315000	0.45114	0.655000	0.94253	CGG		0.488	MAGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345417.1	NM_022149		35	158	1	0	2.09667e-21	0.003755	3.52276e-21	35	158				
DGKG	1608	broad.mit.edu	37	3	185986600	185986600	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:185986600C>G	ENST00000265022.3	-	12	1645	c.1106G>C	c.(1105-1107)tGc>tCc	p.C369S	DGKG_ENST00000544847.1_Intron|DGKG_ENST00000344484.4_Missense_Mutation_p.C369S|DGKG_ENST00000382164.4_Intron	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	369					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.C369S(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CGTCATCCGGCACCACACGCA	0.607																																							uc003fqa.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1105-1107)TGC>TCC		diacylglycerol kinase gamma isoform 1	Phosphatidylserine(DB00144)						66.0	54.0	58.0					3																	185986600		2203	4300	6503	SO:0001583	missense	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:185986600C>G	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1106G>C	3.37:g.185986600C>G	ENSP00000265022:p.Cys369Ser					DGKG_uc003fqb.2_Intron|DGKG_uc003fqc.2_Missense_Mutation_p.C369S|DGKG_uc011brx.1_Intron	p.C369S	NM_001346	NP_001337	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	12	1643	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		369			Phorbol-ester/DAG-type 2.		B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	c.1106G>C	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758306	0.89843	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000437018	D;D;D	0.99876	-7.41;-7.41;-7.41	5.16	5.16	0.70880	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	0.000000	0.85682	D	0.000000	D	0.99876	0.9941	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.989	D	0.96476	0.9352	10	0.87932	D	0	.	17.8146	0.88627	0.0:1.0:0.0:0.0	.	369;369	P49619-2;P49619	.;DGKG_HUMAN	S	369;369;120	ENSP00000265022:C369S;ENSP00000339777:C369S;ENSP00000395526:C120S	ENSP00000265022:C369S	C	-	2	0	DGKG	187469294	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.468000	0.80943	2.590000	0.87494	0.563000	0.77884	TGC		0.607	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			14	44	0	0	0	0.003163	0	14	44				
RTP2	344892	broad.mit.edu	37	3	187416442	187416442	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:187416442C>T	ENST00000358241.1	-	2	950	c.522G>A	c.(520-522)gaG>gaA	p.E174E		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	174					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)	p.E174E(2)		large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		TGGTCACCTCCTCCTCCAGCA	0.647																																							uc003fro.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(520-522)GAG>GAA		receptor transporting protein 2							65.0	67.0	66.0					3																	187416442		2203	4300	6503	SO:0001819	synonymous_variant	344892				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:187416442C>T	AY562236	CCDS33911.1	3q27.3	2014-02-20	2006-11-21		ENSG00000198471	ENSG00000198471		"""Receptor transporter proteins"""	32486	protein-coding gene	gene with protein product	"""receptor transporting protein 2"", ""zinc finger, 3CxxC-type 2"""	609138	"""receptor transporter protein 2"""			16271481, 15550249, 16720576	Standard	NM_001004312		Approved	MGC78665, Z3CXXC2	uc003fro.1	Q5QGT7	OTTHUMG00000156458	ENST00000358241.1:c.522G>A	3.37:g.187416442C>T							p.E174E	NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)	2	951	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		174			Cytoplasmic (Potential).		Q6NVH4	Silent	SNP	ENST00000358241.1	37	c.522G>A	CCDS33911.1																																																																																				0.647	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344259.1	NM_001004312		21	62	0	0	0	0.002299	0	21	62				
TPRG1	285386	broad.mit.edu	37	3	188925302	188925302	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:188925302G>T	ENST00000345063.3	+	2	296	c.129G>T	c.(127-129)agG>agT	p.R43S	TPRG1_ENST00000433971.1_Missense_Mutation_p.R43S	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	43						cytoplasm (GO:0005737)		p.R43S(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		AGATTTCAAGGCAGTCAAGTG	0.473																																							uc003frv.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(127-129)AGG>AGT		tumor protein p63 regulated 1							222.0	193.0	203.0					3																	188925302		2203	4300	6503	SO:0001583	missense	285386							g.chr3:188925302G>T	AK125682	CCDS3292.1	3q28	2008-02-04	2008-01-16	2008-01-16	ENSG00000188001	ENSG00000188001			24759	protein-coding gene	gene with protein product			"""family with sequence similarity 79, member B"""	FAM79B			Standard	NM_198485		Approved	FLJ41238, FLJ43694	uc003frw.2	Q6ZUI0	OTTHUMG00000156321	ENST00000345063.3:c.129G>T	3.37:g.188925302G>T	ENSP00000341031:p.Arg43Ser					TPRG1_uc003frw.1_Missense_Mutation_p.R43S	p.R43S	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)	7	1356	+	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	43						Missense_Mutation	SNP	ENST00000345063.3	37	c.129G>T	CCDS3292.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.780667	0.31502	.	.	ENSG00000188001	ENST00000433971;ENST00000412373;ENST00000345063;ENST00000456832	.	.	.	6.17	-2.3	0.06785	.	0.446561	0.27371	N	0.019664	T	0.22666	0.0547	L	0.34521	1.04	0.23823	N	0.996748	B	0.18461	0.028	B	0.18263	0.021	T	0.22626	-1.0211	9	0.14252	T	0.57	-18.8413	6.1829	0.20482	0.5543:0.0:0.3089:0.1369	.	43	Q6ZUI0	TPRG1_HUMAN	S	43	.	ENSP00000341031:R43S	R	+	3	2	TPRG1	190407996	0.028000	0.19301	0.064000	0.19789	0.959000	0.62525	-0.649000	0.05384	-0.538000	0.06281	0.655000	0.94253	AGG		0.473	TPRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343931.1	NM_198485		39	128	1	0	9.85521e-28	0.00623	1.80183e-27	39	128				
FGFRL1	53834	broad.mit.edu	37	4	1018108	1018108	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:1018108G>T	ENST00000398484.2	+	7	1308	c.728G>T	c.(727-729)cGt>cTt	p.R243L	FGFRL1_ENST00000264748.6_Missense_Mutation_p.R243L|FGFRL1_ENST00000504138.1_Missense_Mutation_p.R243L|FGFRL1_ENST00000510644.1_Missense_Mutation_p.R243L			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	243					diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)	p.R213L(2)|p.R243L(2)		endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GAGCGGACCCGTTCCAAGCCC	0.711																																							uc003gce.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(727-729)CGT>CTT		fibroblast growth factor receptor-like 1							41.0	39.0	40.0					4																	1018108		2199	4279	6478	SO:0001583	missense	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1018108G>T		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.728G>T	4.37:g.1018108G>T	ENSP00000381498:p.Arg243Leu					FGFRL1_uc003gcf.2_Missense_Mutation_p.R243L|FGFRL1_uc003gcg.2_Missense_Mutation_p.R243L|FGFRL1_uc010ibo.2_Missense_Mutation_p.R243L	p.R243L	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		6	889	+			243			Extracellular (Potential).		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	ENST00000398484.2	37	c.728G>T	CCDS3344.1	.	.	.	.	.	.	.	.	.	.	g	16.70	3.195305	0.58017	.	.	ENSG00000127418	ENST00000398484;ENST00000542622;ENST00000510644;ENST00000504138;ENST00000264748	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	5.24	5.24	0.73138	.	0.166361	0.52532	D	0.000071	T	0.66086	0.2754	L	0.52573	1.65	0.50171	D	0.999858	P	0.39601	0.68	B	0.35114	0.196	T	0.70019	-0.4987	10	0.51188	T	0.08	-35.1573	17.8483	0.88737	0.0:0.0:1.0:0.0	.	243	Q8N441	FGRL1_HUMAN	L	243;213;243;243;243	ENSP00000381498:R243L;ENSP00000425025:R243L;ENSP00000423091:R243L;ENSP00000264748:R243L	ENSP00000264748:R243L	R	+	2	0	FGFRL1	1008108	0.991000	0.36638	0.999000	0.59377	0.641000	0.38312	3.172000	0.50832	2.461000	0.83175	0.567000	0.79289	CGT		0.711	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		19	71	1	0	2.94398e-08	0.007413	3.44704e-08	19	71				
DRD5	1816	broad.mit.edu	37	4	9784629	9784629	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:9784629C>A	ENST00000304374.2	+	1	1372	c.976C>A	c.(976-978)Ccc>Acc	p.P326T		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	326					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.P326T(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CAGTGGACACCCCGAAGGCCC	0.587																																							uc003gmb.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(976-978)CCC>ACC		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						87.0	87.0	87.0					4																	9784629		2203	4300	6503	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784629C>A	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.976C>A	4.37:g.9784629C>A	ENSP00000306129:p.Pro326Thr						p.P326T	NM_000798	NP_000789	P21918	DRD5_HUMAN			1	1372	+			326			Extracellular (Potential).		B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.976C>A	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	c	7.258	0.604632	0.14002	.	.	ENSG00000169676	ENST00000304374	T	0.68331	-0.32	4.49	1.67	0.24075	GPCR, rhodopsin-like superfamily (1);	0.483859	0.21076	N	0.080573	T	0.47173	0.1431	L	0.35793	1.09	0.09310	N	1	P	0.35793	0.521	B	0.35182	0.197	T	0.26087	-1.0113	10	0.15952	T	0.53	.	4.1446	0.10210	0.1526:0.4481:0.3155:0.0837	.	326	P21918	DRD5_HUMAN	T	326	ENSP00000306129:P326T	ENSP00000306129:P326T	P	+	1	0	DRD5	9393727	0.005000	0.15991	0.001000	0.08648	0.862000	0.49288	0.507000	0.22675	0.121000	0.18284	0.460000	0.39030	CCC		0.587	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			64	209	1	0	1.1794e-34	0.00361	2.28347e-34	64	209				
SLC2A9	56606	broad.mit.edu	37	4	10027563	10027563	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:10027563C>A	ENST00000506583.1	-	3	245	c.28G>T	c.(28-30)Gaa>Taa	p.E10*	SLC2A9_ENST00000309065.3_Nonsense_Mutation_p.E10*			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	0					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)	p.E10*(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	TCTTCATCTTCTCCTCGGTCC	0.393																																							uc003gmd.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(3)	3						c.(28-30)GAA>TAA		solute carrier family 2, member 9 protein							145.0	148.0	147.0					4																	10027563		2203	4300	6503	SO:0001587	stop_gained	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:10027563C>A	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000506583.1:c.28G>T	4.37:g.10027563C>A	ENSP00000422209:p.Glu10*						p.E10*	NM_001001290	NP_001001290	Q9NRM0	GTR9_HUMAN			2	187	-			Error:Variant_position_missing_in_Q9NRM0_after_alignment					Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Nonsense_Mutation	SNP	ENST00000506583.1	37	c.28G>T	CCDS3406.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831528	0.32329	.	.	ENSG00000109667	ENST00000506583;ENST00000309065;ENST00000513129	.	.	.	3.59	2.74	0.32292	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.131	0.36846	0.0:0.7769:0.2231:0.0	.	.	.	.	X	10	.	.	E	-	1	0	SLC2A9	9636661	0.010000	0.17322	0.005000	0.12908	0.031000	0.12232	0.756000	0.26419	1.081000	0.41110	0.561000	0.74099	GAA		0.393	SLC2A9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207054.2			25	82	1	0	2.65835e-16	0.007291	4.02068e-16	25	82				
RFC1	5981	broad.mit.edu	37	4	39314400	39314400	+	Missense_Mutation	SNP	C	C	A	rs369740243		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:39314400C>A	ENST00000381897.1	-	11	1488	c.1355G>T	c.(1354-1356)cGt>cTt	p.R452L	RFC1_ENST00000349703.2_Missense_Mutation_p.R452L	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	452	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.R452L(2)|p.R452H(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TCCACTATCACGACCCATGAC	0.453																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	uc003gty.1		NA																	3	Substitution - Missense(3)	p.R452C(1)	lung(2)|upper_aerodigestive_tract(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(1354-1356)CGT>CTT		replication factor C large subunit							339.0	270.0	293.0					4																	39314400		2203	4300	6503	SO:0001583	missense	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39314400C>A	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.1355G>T	4.37:g.39314400C>A	ENSP00000371321:p.Arg452Leu					RFC1_uc003gtx.1_Missense_Mutation_p.R452L	p.R452L	NM_002913	NP_002904	P35251	RFC1_HUMAN			11	1489	-			452			BRCT.		A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	c.1355G>T	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	C	34	5.397543	0.96009	.	.	ENSG00000035928	ENST00000381897;ENST00000349703;ENST00000504554	T;T;T	0.80033	-1.33;-1.33;-1.33	5.82	5.82	0.92795	BRCT (4);	0.091679	0.85682	D	0.000000	D	0.88676	0.6501	L	0.60012	1.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.925;0.988	D	0.88199	0.2882	10	0.59425	D	0.04	-11.7037	20.1022	0.97879	0.0:1.0:0.0:0.0	.	452;452	P35251;P35251-2	RFC1_HUMAN;.	L	452;452;84	ENSP00000371321:R452L;ENSP00000261424:R452L;ENSP00000422129:R84L	ENSP00000261424:R452L	R	-	2	0	RFC1	38990795	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	7.762000	0.85270	2.759000	0.94783	0.555000	0.69702	CGT		0.453	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		103	273	1	0	1.47424e-42	0.00361	2.93359e-42	103	273				
KCTD8	386617	broad.mit.edu	37	4	44449622	44449622	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:44449622C>A	ENST00000360029.3	-	1	1202	c.919G>T	c.(919-921)Gac>Tac	p.D307Y	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	307					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)		p.D307Y(2)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						ATCTTGTCGTCGCGGTACTGG	0.632										HNSCC(17;0.042)																													uc003gwu.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(919-921)GAC>TAC		potassium channel tetramerisation domain							27.0	25.0	26.0					4																	44449622		2203	4298	6501	SO:0001583	missense	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44449622C>A	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.919G>T	4.37:g.44449622C>A	ENSP00000353129:p.Asp307Tyr	HNSCC(17;0.042)					p.D307Y	NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN			1	1203	-			307					A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	c.919G>T	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190157	0.78789	.	.	ENSG00000183783	ENST00000360029	T	0.51574	0.7	4.2	4.2	0.49525	.	0.132116	0.48286	D	0.000194	T	0.65048	0.2654	M	0.64170	1.965	0.58432	D	0.999994	D	0.89917	1.0	D	0.71184	0.972	T	0.70077	-0.4971	10	0.87932	D	0	.	15.7197	0.77697	0.0:1.0:0.0:0.0	.	307	Q6ZWB6	KCTD8_HUMAN	Y	307	ENSP00000353129:D307Y	ENSP00000353129:D307Y	D	-	1	0	KCTD8	44144379	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.601000	0.82783	2.178000	0.69098	0.591000	0.81541	GAC		0.632	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			5	33	1	0	0.00116845	0.001168	0.00122601	5	33				
CORIN	10699	broad.mit.edu	37	4	47685848	47685848	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:47685848G>A	ENST00000273857.4	-	7	920	c.921C>T	c.(919-921)agC>agT	p.S307S	CORIN_ENST00000502252.1_Silent_p.S240S|CORIN_ENST00000508498.1_Silent_p.S168S|CORIN_ENST00000505909.1_Silent_p.S307S|CORIN_ENST00000504584.1_Silent_p.S307S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	307	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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.S307S(2)		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						ACAGATTCTCGCTGCAGTCTG	0.428																																							uc003gxm.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(919-921)AGC>AGT		corin							92.0	86.0	88.0					4																	47685848		2203	4300	6503	SO:0001819	synonymous_variant	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.chr4:47685848G>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.921C>T	4.37:g.47685848G>A						CORIN_uc011bzf.1_Silent_p.S168S|CORIN_uc011bzg.1_Silent_p.S240S|CORIN_uc011bzh.1_Silent_p.S307S|CORIN_uc011bzi.1_Silent_p.S307S|CORIN_uc003gxn.3_Silent_p.S307S	p.S307S	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN			7	1014	-			307			Extracellular (Potential).|LDL-receptor class A 2.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Silent	SNP	ENST00000273857.4	37	c.921C>T	CCDS3477.1																																																																																				0.428	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			14	57	0	0	0	0.001855	0	14	57				
CNGA1	1259	broad.mit.edu	37	4	47939673	47939673	+	Missense_Mutation	SNP	G	G	C	rs367772790		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:47939673G>C	ENST00000514170.1	-	11	1157	c.838C>G	c.(838-840)Cgt>Ggt	p.R280G	CNGA1_ENST00000544810.1_Missense_Mutation_p.R280G|CNGA1_ENST00000402813.3_Missense_Mutation_p.R349G|CNGA1_ENST00000420489.2_Missense_Mutation_p.R280G|CNGA1_ENST00000358519.4_Missense_Mutation_p.R280G			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	280					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.R280G(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TCAAACATACGAGAGAACCGT	0.363																																							uc003gxt.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(838-840)CGT>GGT		cyclic nucleotide gated channel alpha 1 isoform							146.0	140.0	142.0					4																	47939673		1851	4091	5942	SO:0001583	missense	1259				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	g.chr4:47939673G>C	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.838C>G	4.37:g.47939673G>C	ENSP00000426862:p.Arg280Gly					uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.R349G	p.R280G	NM_000087	NP_000078	P29973	CNGA1_HUMAN			11	1104	-			280			Extracellular (Potential).		A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	ENST00000514170.1	37	c.838C>G	CCDS43226.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.953021	0.53293	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.99515	-6.06;-6.06;-6.06;-6.06;-6.06	5.09	5.09	0.68999	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99684	0.9881	H	0.94658	3.565	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97484	1.0049	10	0.87932	D	0	.	18.5276	0.90978	0.0:0.0:1.0:0.0	.	280;280	Q4W5E3;P29973	.;CNGA1_HUMAN	G	349;280;280;280;280	ENSP00000384264:R349G;ENSP00000426862:R280G;ENSP00000443401:R280G;ENSP00000351320:R280G;ENSP00000389881:R280G	ENSP00000351320:R280G	R	-	1	0	CNGA1	47634430	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.718000	0.74713	2.372000	0.80975	0.655000	0.94253	CGT		0.363	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		36	95	0	0	0	0.003755	0	36	95				
FRYL	285527	broad.mit.edu	37	4	48584628	48584628	+	Silent	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:48584628A>T	ENST00000503238.1	-	17	1871	c.1872T>A	c.(1870-1872)cgT>cgA	p.R624R	FRYL_ENST00000358350.4_Silent_p.R624R|FRYL_ENST00000537810.1_Silent_p.R624R|FRYL_ENST00000507711.1_Silent_p.R624R|FRYL_ENST00000506685.1_Silent_p.R330R|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	624					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.R624R(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CAGTCACTTCACGAACAATAA	0.393																																							uc003gyh.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(1870-1872)CGT>CGA		furry-like							127.0	117.0	120.0					4																	48584628		1870	4099	5969	SO:0001819	synonymous_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48584628A>T	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.1872T>A	4.37:g.48584628A>T						FRYL_uc003gyk.2_Silent_p.R624R	p.R624R	NM_015030	NP_055845	O94915	FRYL_HUMAN			20	2477	-			624					O95640|Q8WTZ5|Q9NT40	Silent	SNP	ENST00000503238.1	37	c.1872T>A	CCDS43227.1																																																																																				0.393	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			16	54	0	0	0	0.004007	0	16	54				
EPHA5	2044	broad.mit.edu	37	4	66535351	66535351	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:66535351C>T	ENST00000273854.3	-	1	710	c.110G>A	c.(109-111)cGg>cAg	p.R37Q	EPHA5_ENST00000511294.1_Missense_Mutation_p.R37Q|EPHA5_ENST00000354839.4_Missense_Mutation_p.R37Q|RP11-807H7.1_ENST00000509473.1_lincRNA|EPHA5_ENST00000432638.2_Missense_Mutation_p.R37Q	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	37					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.R37Q(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GAGGGGAGCCCGTCGAGGTGC	0.751										TSP Lung(17;0.13)																													uc003hcy.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(109-111)CGG>CAG		ephrin receptor EphA5 isoform a precursor							13.0	16.0	15.0					4																	66535351		2188	4294	6482	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66535351C>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.110G>A	4.37:g.66535351C>T	ENSP00000273854:p.Arg37Gln	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_5'Flank|EPHA5_uc003hcz.2_Missense_Mutation_p.R37Q|EPHA5_uc011cah.1_Missense_Mutation_p.R37Q|EPHA5_uc011cai.1_Missense_Mutation_p.R37Q|EPHA5_uc003hda.2_Missense_Mutation_p.R37Q|uc003hdb.2_5'Flank	p.R37Q	NM_004439	NP_004430	P54756	EPHA5_HUMAN			1	303	-			37			Extracellular (Potential).		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.110G>A	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895796	0.52121	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.73897	-0.7;-0.79;-0.68;-0.69	5.51	2.59	0.31030	.	0.543068	0.15581	N	0.254926	T	0.48095	0.1481	N	0.14661	0.345	0.20563	N	0.999886	B;B;B;B	0.28233	0.129;0.129;0.204;0.129	B;B;B;B	0.20184	0.012;0.012;0.028;0.012	T	0.23226	-1.0194	10	0.13853	T	0.58	.	3.5169	0.07728	0.1737:0.5642:0.1684:0.0938	.	37;37;37;37	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	Q	37	ENSP00000273854:R37Q;ENSP00000389208:R37Q;ENSP00000346899:R37Q;ENSP00000427638:R37Q	ENSP00000273854:R37Q	R	-	2	0	EPHA5	66217946	0.793000	0.28825	0.976000	0.42696	0.832000	0.47134	0.637000	0.24659	0.749000	0.32854	0.655000	0.94253	CGG		0.751	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		4	15	0	0	0	0.000602	0	4	15				
TMPRSS11B	132724	broad.mit.edu	37	4	69100244	69100244	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:69100244G>T	ENST00000332644.5	-	5	567	c.406C>A	c.(406-408)Cat>Aat	p.H136N		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	136	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.H136N(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AACATCTGATGTAATTTAGCC	0.378																																							uc003hdw.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(406-408)CAT>AAT		transmembrane protease, serine 11B							118.0	111.0	113.0					4																	69100244		2203	4300	6503	SO:0001583	missense	132724				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69100244G>T	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"""Serine peptidases / Transmembrane"""	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.406C>A	4.37:g.69100244G>T	ENSP00000330475:p.His136Asn						p.H136N	NM_182502	NP_872308	Q86T26	TM11B_HUMAN			5	542	-			136			SEA.|Extracellular (Potential).		A8K4D9	Missense_Mutation	SNP	ENST00000332644.5	37	c.406C>A	CCDS3521.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.525045	0.27299	.	.	ENSG00000185873	ENST00000332644	T	0.36157	1.27	5.16	3.44	0.39384	SEA (1);	0.795423	0.10606	N	0.655025	T	0.32526	0.0832	L	0.51422	1.61	0.09310	N	1	P	0.38677	0.642	B	0.40009	0.316	T	0.13176	-1.0519	10	0.16420	T	0.52	.	8.3089	0.32060	0.1854:0.0:0.8146:0.0	.	136	Q86T26	TM11B_HUMAN	N	136	ENSP00000330475:H136N	ENSP00000330475:H136N	H	-	1	0	TMPRSS11B	68782839	0.006000	0.16342	0.012000	0.15200	0.003000	0.03518	0.948000	0.29096	0.686000	0.31488	0.655000	0.94253	CAT		0.378	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502		37	119	1	0	3.76114e-14	0.004289	5.42816e-14	37	119				
UGT2B4	7363	broad.mit.edu	37	4	70346378	70346378	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:70346378T>C	ENST00000305107.6	-	6	1607	c.1561A>G	c.(1561-1563)Aca>Gca	p.T521A	AC108078.1_ENST00000583573.1_RNA|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_3'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.T385A	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	521					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.T521A(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	TTCTTTCCTGTTCTAACAAAC	0.418																																							uc003hek.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(1561-1563)ACA>GCA		UDP glucuronosyltransferase 2B4 precursor							144.0	144.0	144.0					4																	70346378		2203	4300	6503	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70346378T>C	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1561A>G	4.37:g.70346378T>C	ENSP00000305221:p.Thr521Ala					UGT2B4_uc011cap.1_Missense_Mutation_p.T385A|UGT2B4_uc003hel.3_3'UTR	p.T521A	NM_021139	NP_066962	P06133	UD2B4_HUMAN			6	1608	-			521					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.1561A>G	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	T	2.175	-0.388995	0.04932	.	.	ENSG00000156096	ENST00000305107;ENST00000381096	T;T	0.58940	0.3;0.3	2.11	-0.676	0.11361	.	0.482245	0.17163	U	0.184607	T	0.38799	0.1054	L	0.38692	1.165	0.09310	N	1	B;B	0.12630	0.006;0.001	B;B	0.20767	0.031;0.008	T	0.19943	-1.0290	10	0.17832	T	0.49	.	5.7761	0.18279	0.0:0.2891:0.0:0.7109	.	385;521	A6NCP7;P06133	.;UD2B4_HUMAN	A	521;385	ENSP00000305221:T521A;ENSP00000370486:T385A	ENSP00000305221:T521A	T	-	1	0	UGT2B4	70380967	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.550000	0.06034	-0.126000	0.11682	0.254000	0.18369	ACA		0.418	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		53	164	0	0	0	0.00361	0	53	164				
ALB	213	broad.mit.edu	37	4	74283925	74283925	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:74283925G>C	ENST00000503124.1	+	10	1306	c.1099G>C	c.(1099-1101)Gtc>Ctc	p.V367L	ALB_ENST00000295897.4_Missense_Mutation_p.V517L|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Missense_Mutation_p.V325L|ALB_ENST00000401494.3_Missense_Mutation_p.V402L|ALB_ENST00000509063.1_Missense_Mutation_p.V517L			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)		p.V517L(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGCTCTGGAAGTCGATGAAAC	0.428																																							uc003hgs.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(3)	6						c.(1549-1551)GTC>CTC		albumin preproprotein	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						131.0	123.0	126.0					4																	74283925		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74283925G>C	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.1099G>C	4.37:g.74283925G>C	ENSP00000421027:p.Val367Leu					ALB_uc003hgw.3_Missense_Mutation_p.V325L|ALB_uc011cbe.1_Missense_Mutation_p.V196L|ALB_uc003hgt.3_Missense_Mutation_p.V517L|ALB_uc010iii.2_Missense_Mutation_p.V402L|ALB_uc003hgu.3_Missense_Mutation_p.V367L|ALB_uc003hgv.3_Missense_Mutation_p.V196L|ALB_uc011cbf.1_Missense_Mutation_p.V407L|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_Missense_Mutation_p.V196L	p.V517L	NM_000477	NP_000468	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		12	1622	+	Breast(15;0.00102)		517			Albumin 3.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37	c.1549G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.440|1.440	-0.567780|-0.567780	0.03910|0.03910	.|.	.|.	ENSG00000163631|ENSG00000163631	ENST00000511370|ENST00000295897;ENST00000415165;ENST00000329326;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202	.|T;T;T;T;T	.|0.72725	.|-0.68;-0.68;-0.68;-0.68;-0.68	5.94|5.94	-2.08|-2.08	0.07254|0.07254	.|Serum albumin-like (1);Serum albumin, N-terminal (3);	.|1.681500	.|0.03076	.|N	.|0.157846	T|T	0.69628|0.69628	0.3132|0.3132	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B	.|0.09377	.|0.0;0.001;0.001;0.004;0.001	T|T	0.54997|0.54997	-0.8209|-0.8209	5|10	.|0.16420	.|T	.|0.52	0.1787|0.1787	18.4852|18.4852	0.90825|0.90825	0.06:0.6205:0.3194:0.0|0.06:0.6205:0.3194:0.0	.|.	.|402;325;367;517;517	.|B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768	.|.;.;.;.;ALBU_HUMAN	T|L	361|517;325;304;367;517;402;526	.|ENSP00000295897:V517L;ENSP00000401820:V325L;ENSP00000421027:V367L;ENSP00000422784:V517L;ENSP00000384695:V402L	.|ENSP00000295897:V517L	S|V	+|+	2|1	0|0	ALB|ALB	74502789|74502789	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.621000|-0.621000	0.05559|0.05559	-1.273000|-1.273000	0.02424|0.02424	-0.810000|-0.810000	0.03169|0.03169	AGT|GTC		0.428	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477		42	128	0	0	0	0.002852	0	42	128				
CXCL6	6372	broad.mit.edu	37	4	74702735	74702735	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:74702735C>T	ENST00000226317.5	+	2	418	c.164C>T	c.(163-165)aCg>aTg	p.T55M	CXCL6_ENST00000515050.1_Missense_Mutation_p.T55M	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6	55					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|heparin binding (GO:0008201)	p.T55M(2)		large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TTACGCGTTACGCTGAGAGTA	0.527																																							uc003hhf.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(163-165)ACG>ATG		chemokine (C-X-C motif) ligand 6 (granulocyte							113.0	129.0	123.0					4																	74702735		2203	4300	6503	SO:0001583	missense	6372				cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding	g.chr4:74702735C>T	U83303	CCDS3560.1	4q13.3	2013-02-25	2012-10-17	2002-08-23	ENSG00000124875	ENSG00000124875		"""Endogenous ligands"""	10643	protein-coding gene	gene with protein product	"""granulocyte chemotactic protein 2"""	138965	"""small inducible cytokine subfamily B (Cys-X-Cys), member 6 (granulocyte chemotactic protein 2)"", ""chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2)"""	SCYB6		9465307	Standard	NM_002993		Approved	GCP-2, CKA-3	uc003hhf.3	P80162	OTTHUMG00000130010	ENST00000226317.5:c.164C>T	4.37:g.74702735C>T	ENSP00000226317:p.Thr55Met					IL8_uc011cbh.1_Intron	p.T55M	NM_002993	NP_002984	P80162	CXCL6_HUMAN	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		2	359	+	Breast(15;0.00102)		55					B2R4X3|Q4W5D4	Missense_Mutation	SNP	ENST00000226317.5	37	c.164C>T	CCDS3560.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.738377	0.30774	.	.	ENSG00000124875	ENST00000226317;ENST00000515050	T;T	0.05649	3.41;3.41	3.86	-0.0305	0.13914	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.253070	0.40818	N	0.001004	T	0.09555	0.0235	L	0.56124	1.755	0.09310	N	1	D	0.61697	0.99	P	0.55011	0.766	T	0.18618	-1.0331	10	0.33141	T	0.24	.	3.3124	0.07021	0.3526:0.4412:0.0:0.2062	.	55	P80162	CXCL6_HUMAN	M	55	ENSP00000226317:T55M;ENSP00000424819:T55M	ENSP00000226317:T55M	T	+	2	0	CXCL6	74921599	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.056000	0.11787	-0.175000	0.10725	-0.224000	0.12420	ACG		0.527	CXCL6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252283.2	NM_002993		37	96	0	0	0	0.004289	0	37	96				
NAA11	84779	broad.mit.edu	37	4	80246771	80246771	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:80246771G>T	ENST00000286794.4	-	1	433	c.261C>A	c.(259-261)gcC>gcA	p.A87A	NAA11_ENST00000513733.1_5'Flank	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	87	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)	p.A87A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TCAGCTTCTGGGCCAGGCCGA	0.577																																							uc003hlt.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(259-261)GCC>GCA		alpha-N-acetyltransferase 1B							56.0	61.0	59.0					4																	80246771		2153	4263	6416	SO:0001819	synonymous_variant	84779					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	g.chr4:80246771G>T		CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	28125	protein-coding gene	gene with protein product			"""ARD1 homolog B (S. cerevisiae)"""	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.261C>A	4.37:g.80246771G>T							p.A87A	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN			1	401	-			87			N-acetyltransferase.		Q66K19|Q6P479	Silent	SNP	ENST00000286794.4	37	c.261C>A	CCDS47084.1																																																																																				0.577	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362922.1			30	102	1	0	7.26314e-15	0.007291	1.06779e-14	30	102				
TMEM150C	441027	broad.mit.edu	37	4	83417293	83417293	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:83417293C>T	ENST00000515780.2	-	6	495	c.291G>A	c.(289-291)ccG>ccA	p.P97P	TMEM150C_ENST00000508701.1_Silent_p.P97P|TMEM150C_ENST00000449862.2_Silent_p.P97P|RP11-791G16.2_ENST00000488045.1_RNA			B9EJG8	T150C_HUMAN	transmembrane protein 150C	97						integral component of membrane (GO:0016021)		p.P97P(2)		ovary(1)	1						TATTCAGCCACGGGTTTAAAA	0.423																																							uc003hmy.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(289-291)CCG>CCA		transmembrane protein 150C							100.0	102.0	101.0					4																	83417293		1885	4112	5997	SO:0001819	synonymous_variant	441027					integral to membrane		g.chr4:83417293C>T	BC147027	CCDS47087.1	4q21.22	2010-06-25			ENSG00000249242	ENSG00000249242			37263	protein-coding gene	gene with protein product							Standard	NM_001080506		Approved	FLJ12993	uc003hmy.1	B9EJG8	OTTHUMG00000161083	ENST00000515780.2:c.291G>A	4.37:g.83417293C>T						TMEM150C_uc011ccj.1_Silent_p.P127P	p.P97P	NM_001080506	NP_001073975	B9EJG8	T150C_HUMAN			6	369	-			97					B7Z4J5|B7Z4L3|B7Z692|B7Z6X6	Silent	SNP	ENST00000515780.2	37	c.291G>A	CCDS47087.1																																																																																				0.423	TMEM150C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363685.2	NM_001080506		32	90	0	0	0	0.002836	0	32	90				
PTPN13	5783	broad.mit.edu	37	4	87701591	87701591	+	Silent	SNP	T	T	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:87701591T>G	ENST00000411767.2	+	36	5991	c.5928T>G	c.(5926-5928)tcT>tcG	p.S1976S	PTPN13_ENST00000316707.6_Silent_p.S1785S|PTPN13_ENST00000436978.1_Silent_p.S1981S|PTPN13_ENST00000427191.2_Silent_p.S1957S|PTPN13_ENST00000511467.1_Silent_p.S1981S			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1976					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.S1981S(2)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CAAAGAGGTCTGCTGTTTCAG	0.423																																							uc003hpz.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|breast(1)|kidney(1)	6						c.(5926-5928)TCT>TCG		protein tyrosine phosphatase, non-receptor type							71.0	69.0	70.0					4																	87701591		1896	4110	6006	SO:0001819	synonymous_variant	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity	g.chr4:87701591T>G		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.5928T>G	4.37:g.87701591T>G						PTPN13_uc003hpy.2_Silent_p.S1981S|PTPN13_uc003hqa.2_Silent_p.S1957S|PTPN13_uc003hqb.2_Silent_p.S1785S|PTPN13_uc003hqc.1_Silent_p.S342S	p.S1976S	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	36	6408	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1976					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	ENST00000411767.2	37	c.5928T>G	CCDS47094.1																																																																																				0.423	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			4	25	0	0	0	0.000602	0	4	25				
FAM13A	10144	broad.mit.edu	37	4	89772323	89772323	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:89772323G>A	ENST00000264344.5	-	7	1062	c.855C>T	c.(853-855)tcC>tcT	p.S285S	FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000502459.1_5'UTR	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	285					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.S285S(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CCTCACTCCTGGATTTTGGGA	0.408																																							uc003hse.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|liver(1)	2						c.(853-855)TCC>TCT		family with sequence similarity 13, member A1							72.0	80.0	77.0					4																	89772323		2203	4300	6503	SO:0001819	synonymous_variant	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89772323G>A	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.855C>T	4.37:g.89772323G>A						FAM13A_uc003hsf.1_Intron|FAM13A_uc003hsh.1_Silent_p.S99S	p.S285S	NM_014883	NP_055698	O94988	FA13A_HUMAN			7	1063	-			285					B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Silent	SNP	ENST00000264344.5	37	c.855C>T	CCDS34029.1																																																																																				0.408	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			46	169	0	0	0	0.003214	0	46	169				
TIGD2	166815	broad.mit.edu	37	4	90034726	90034726	+	Missense_Mutation	SNP	G	G	T	rs374340032		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:90034726G>T	ENST00000317005.2	+	1	759	c.601G>T	c.(601-603)Ggg>Tgg	p.G201W	RP11-84C13.1_ENST00000603357.1_lincRNA|FAM13A_ENST00000502459.1_5'Flank	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	201	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G201W(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		AAGTACTTCTGGGTGTAGGTC	0.408																																							uc003hsk.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(601-603)GGG>TGG		tigger transposable element derived 2							69.0	73.0	71.0					4																	90034726		2203	4299	6502	SO:0001583	missense	166815				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr4:90034726G>T	AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.601G>T	4.37:g.90034726G>T	ENSP00000317170:p.Gly201Trp					FAM13A_uc003hsh.1_5'Flank	p.G201W	NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)	1	759	+		Hepatocellular(203;0.114)	201			DDE.			Missense_Mutation	SNP	ENST00000317005.2	37	c.601G>T	CCDS3633.1	.	.	.	.	.	.	.	.	.	.	g	11.68	1.710874	0.30322	.	.	ENSG00000180346	ENST00000317005	T	0.51071	0.72	3.87	2.05	0.26809	.	0.322727	0.17488	U	0.172445	T	0.59390	0.2190	M	0.79614	2.46	0.09310	N	1	D	0.61697	0.99	P	0.59487	0.858	T	0.48647	-0.9017	10	0.66056	D	0.02	0.0047	5.8778	0.18838	0.3473:0.0:0.6527:0.0	.	201	Q4W5G0	TIGD2_HUMAN	W	201	ENSP00000317170:G201W	ENSP00000317170:G201W	G	+	1	0	TIGD2	90253749	1.000000	0.71417	0.906000	0.35671	0.920000	0.55202	1.672000	0.37523	0.848000	0.35191	0.546000	0.68486	GGG		0.408	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253545.2	NM_145715		38	82	1	0	1.07637e-12	0.004878	1.50921e-12	38	82				
MMRN1	22915	broad.mit.edu	37	4	90857151	90857151	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:90857151A>T	ENST00000394980.1	+	7	2639	c.2320A>T	c.(2320-2322)Aca>Tca	p.T774S	MMRN1_ENST00000264790.2_Missense_Mutation_p.T774S|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.T516S			Q13201	MMRN1_HUMAN	multimerin 1	774					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.T774S(2)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AACTATTTTGACATTTATTCC	0.353																																							uc003hst.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(2320-2322)ACA>TCA		multimerin 1							63.0	61.0	62.0					4																	90857151		2203	4296	6499	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90857151A>T	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2320A>T	4.37:g.90857151A>T	ENSP00000378431:p.Thr774Ser					MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.T516S	p.T774S	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	6	2391	+		Hepatocellular(203;0.114)	774					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.2320A>T	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	A	4.311	0.057000	0.08339	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.66280	0.14;0.14;-0.2	4.85	-7.8	0.01214	.	0.706955	0.13448	N	0.387171	T	0.42177	0.1191	L	0.43152	1.355	0.22552	N	0.998999	B	0.14438	0.01	B	0.11329	0.006	T	0.45629	-0.9248	10	0.07990	T	0.79	.	11.3752	0.49724	0.1276:0.0:0.6468:0.2256	.	774	Q13201	MMRN1_HUMAN	S	774;774;516	ENSP00000378431:T774S;ENSP00000264790:T774S;ENSP00000426461:T516S	ENSP00000264790:T774S	T	+	1	0	MMRN1	91076174	0.001000	0.12720	0.120000	0.21714	0.131000	0.20780	-0.884000	0.04166	-1.334000	0.02244	-0.256000	0.11100	ACA		0.353	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		25	74	0	0	0	0.00333	0	25	74				
ADH1B	125	broad.mit.edu	37	4	100235229	100235229	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:100235229C>A	ENST00000305046.8	-	6	644	c.577G>T	c.(577-579)Ggc>Tgc	p.G193C	ADH1B_ENST00000394887.3_Missense_Mutation_p.G153C			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	193					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.G193C(2)		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)	CAGGTAGAGCCTGGGGTGACC	0.468																																							uc003hus.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(577-579)GGC>TGC		class I alcohol dehydrogenase, beta subunit	Fomepizole(DB01213)|NADH(DB00157)						101.0	110.0	107.0					4																	100235229		2203	4300	6503	SO:0001583	missense	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100235229C>A	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.577G>T	4.37:g.100235229C>A	ENSP00000306606:p.Gly193Cys					ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.G153C|ADH1B_uc011ceh.1_Missense_Mutation_p.G38C|ADH1B_uc011cei.1_Missense_Mutation_p.G153C	p.G193C	NM_000668	NP_000659	P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	6	661	-			193					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	ENST00000305046.8	37	c.577G>T	CCDS34033.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.644518	0.47258	.	.	ENSG00000196616	ENST00000305046;ENST00000394887;ENST00000412614	T;T	0.74842	-0.88;-0.88	3.81	3.81	0.43845	GroES-like (1);	0.053216	0.85682	D	0.000000	D	0.92635	0.7660	H	0.99834	4.825	0.80722	D	1	D;D;D	0.69078	0.99;0.997;0.994	D;D;D	0.77004	0.988;0.989;0.973	D	0.96218	0.9158	10	0.87932	D	0	-19.9454	15.683	0.77388	0.0:1.0:0.0:0.0	.	180;153;193	F5HB16;A8MYN5;P00325	.;.;ADH1B_HUMAN	C	193;153;180	ENSP00000306606:G193C;ENSP00000378351:G153C	ENSP00000306606:G193C	G	-	1	0	ADH1B	100454252	1.000000	0.71417	0.851000	0.33527	0.056000	0.15407	7.074000	0.76791	1.641000	0.50575	0.561000	0.74099	GGC		0.468	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		65	240	1	0	4.13886e-29	0.00361	7.65592e-29	65	240				
MANBA	4126	broad.mit.edu	37	4	103553402	103553402	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:103553402C>T	ENST00000226578.4	-	17	2551	c.2452G>A	c.(2452-2454)Gac>Aac	p.D818N	MANBA_ENST00000505239.1_Missense_Mutation_p.D761N	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	818					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)	p.D818N(2)|p.D818H(1)		cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		GTCTCCAGGTCAAAAACAAAT	0.418																																							uc003hwg.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(2452-2454)GAC>AAC		mannosidase, beta A, lysosomal precursor							81.0	84.0	83.0					4																	103553402		2203	4300	6503	SO:0001583	missense	4126				carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding	g.chr4:103553402C>T		CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.2452G>A	4.37:g.103553402C>T	ENSP00000226578:p.Asp818Asn					MANBA_uc011ces.1_Missense_Mutation_p.D761N	p.D818N	NM_005908	NP_005899	O00462	MANBA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)	17	2552	-		Hepatocellular(203;0.217)	818					Q96BC3|Q9NYX9	Missense_Mutation	SNP	ENST00000226578.4	37	c.2452G>A	CCDS3658.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347021	0.24426	.	.	ENSG00000109323	ENST00000226578;ENST00000505239	T;T	0.69040	-0.37;-0.37	5.15	3.38	0.38709	.	0.373026	0.30401	N	0.009708	T	0.62998	0.2474	M	0.68317	2.08	0.34870	D	0.743535	B;B	0.15719	0.014;0.002	B;B	0.14023	0.005;0.01	T	0.63791	-0.6557	10	0.21014	T	0.42	-10.3539	14.3532	0.66719	0.0:0.5716:0.4284:0.0	.	761;818	E9PFW2;O00462	.;MANBA_HUMAN	N	818;761	ENSP00000226578:D818N;ENSP00000427322:D761N	ENSP00000226578:D818N	D	-	1	0	MANBA	103772450	0.484000	0.25964	0.994000	0.49952	0.828000	0.46876	0.068000	0.14531	0.540000	0.28808	0.460000	0.39030	GAC		0.418	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2			34	113	0	0	0	0.002096	0	34	113				
EEF1A1P9	441032	broad.mit.edu	37	4	106406403	106406403	+	IGR	SNP	C	C	A	rs190077542	byFrequency	TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:106406403C>A								PPA2 (11165 upstream) : AC004066.3 (54943 downstream)																							GCCACAACACCGACACAGTAG	0.448																																							uc003hxt.1		NA																	0					0						c.(409-411)ACC>ACA		SubName: Full=Eukaryotic translation elongation factor 1 alpha; Flags: Fragment;																																				SO:0001628	intergenic_variant	441032							g.chr4:106406403C>A																													4.37:g.106406403C>A							p.T137T	NR_003586						1	541	+									Silent	SNP		37	c.411C>A																																																																																				0	0.448									15	63	1	0	1.05317e-09	0.00245	1.29875e-09	15	63				
NDST3	9348	broad.mit.edu	37	4	119064823	119064823	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:119064823C>A	ENST00000296499.5	+	6	1926	c.1523C>A	c.(1522-1524)aCt>aAt	p.T508N	NDST3_ENST00000433996.2_Missense_Mutation_p.T427N	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	508	Heparan sulfate N-deacetylase 3.				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.T508N(2)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CTTTTCTTCACTGTCGTCCTC	0.428																																							uc003ibx.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(1522-1524)ACT>AAT		N-deacetylase/N-sulfotransferase (heparan							64.0	62.0	63.0					4																	119064823		2203	4300	6503	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:119064823C>A	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1523C>A	4.37:g.119064823C>A	ENSP00000296499:p.Thr508Asn					NDST3_uc011cgf.1_Missense_Mutation_p.T427N	p.T508N	NM_004784	NP_004775	O95803	NDST3_HUMAN			6	1926	+			508			Lumenal (Potential).|Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.1523C>A	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164212	0.78339	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.52526	0.79;0.66	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.74680	0.3748	M	0.88031	2.925	0.47659	D	0.999482	D;D	0.89917	0.999;1.0	D;D	0.80764	0.959;0.994	T	0.80607	-0.1307	10	0.87932	D	0	.	18.7213	0.91694	0.0:1.0:0.0:0.0	.	427;508	B4DI67;O95803	.;NDST3_HUMAN	N	508;427	ENSP00000296499:T508N;ENSP00000396625:T427N	ENSP00000296499:T508N	T	+	2	0	NDST3	119284271	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	7.749000	0.85096	2.473000	0.83533	0.655000	0.94253	ACT		0.428	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		36	76	1	0	2.42023e-17	0.003271	3.76906e-17	36	76				
MMAA	166785	broad.mit.edu	37	4	146576326	146576326	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:146576326G>T	ENST00000281317.5	+	7	2207	c.997G>T	c.(997-999)Gag>Tag	p.E333*	MMAA_ENST00000541599.1_Nonsense_Mutation_p.E52*	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	333					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|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)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)	p.E333*(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCGAAGTGGAGAGGGGATCTC	0.423																																							uc003ikh.3		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(997-999)GAG>TAG		methylmalonic aciduria type A precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						68.0	69.0	69.0					4																	146576326		2203	4300	6503	SO:0001587	stop_gained	166785					mitochondrion	GTP binding|nucleoside-triphosphatase activity	g.chr4:146576326G>T	AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"""methylmalonic aciduria (cobalamin deficiency) type A"""			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.997G>T	4.37:g.146576326G>T	ENSP00000281317:p.Glu333*					MMAA_uc010iow.2_RNA	p.E333*	NM_172250	NP_758454	Q8IVH4	MMAA_HUMAN			7	1082	+	all_hematologic(180;0.151)		333					B3KX40|Q495G7	Nonsense_Mutation	SNP	ENST00000281317.5	37	c.997G>T	CCDS3766.1	.	.	.	.	.	.	.	.	.	.	G	46	12.293994	0.99654	.	.	ENSG00000151611	ENST00000281317;ENST00000537246;ENST00000541599	.	.	.	5.74	5.74	0.90152	.	0.094992	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-19.3856	19.9111	0.97025	0.0:0.0:1.0:0.0	.	.	.	.	X	333;333;52	.	ENSP00000281317:E333X	E	+	1	0	MMAA	146795776	1.000000	0.71417	1.000000	0.80357	0.258000	0.26162	5.093000	0.64517	2.722000	0.93159	0.591000	0.81541	GAG		0.423	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364668.2			28	108	1	0	4.87955e-14	0.005443	7.01659e-14	28	108				
POU4F2	5458	broad.mit.edu	37	4	147561705	147561705	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:147561705G>T	ENST00000281321.3	+	2	1223	c.975G>T	c.(973-975)gaG>gaT	p.E325D	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	325	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in 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)	p.E325D(2)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GGCTCGAGGAGGCCGAGAAGT	0.592																																							uc003ikv.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(973-975)GAG>GAT		Brn3b POU domain transcription factor							69.0	72.0	71.0					4																	147561705		2203	4300	6503	SO:0001583	missense	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147561705G>T	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.975G>T	4.37:g.147561705G>T	ENSP00000281321:p.Glu325Asp						p.E325D	NM_004575	NP_004566	Q12837	PO4F2_HUMAN			2	1223	+	all_hematologic(180;0.151)		325			POU-specific.		B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	ENST00000281321.3	37	c.975G>T	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315917	0.60524	.	.	ENSG00000151615	ENST00000281321	D	0.84070	-1.8	5.37	4.52	0.55395	POU-specific (3);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.87111	0.6096	L	0.46157	1.445	0.80722	D	1	D	0.64830	0.994	D	0.68765	0.96	D	0.87361	0.2344	10	0.56958	D	0.05	.	13.1716	0.59602	0.0781:0.0:0.9219:0.0	.	325	Q12837	PO4F2_HUMAN	D	325	ENSP00000281321:E325D	ENSP00000281321:E325D	E	+	3	2	POU4F2	147781155	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.604000	0.36804	1.246000	0.43901	0.561000	0.74099	GAG		0.592	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		28	84	1	0	4.34311e-12	0.003271	5.90063e-12	28	84				
NR3C2	4306	broad.mit.edu	37	4	149356498	149356498	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:149356498C>A	ENST00000358102.3	-	2	1877	c.1515G>T	c.(1513-1515)gaG>gaT	p.E505D	NR3C2_ENST00000355292.3_Missense_Mutation_p.E505D|NR3C2_ENST00000511528.1_Missense_Mutation_p.E505D|NR3C2_ENST00000512865.1_Missense_Mutation_p.E505D|NR3C2_ENST00000344721.4_Missense_Mutation_p.E505D	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	505	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.E505D(2)		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)	GGATGCTGGCCTCTGGGTAAT	0.493																																					Melanoma(27;428 957 40335 51025 51111)	Melanoma(27;428 957 40335 51025 51111)	uc003ilj.3		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(1513-1515)GAG>GAT		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						93.0	94.0	94.0					4																	149356498		2203	4300	6503	SO:0001583	missense	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.chr4:149356498C>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.1515G>T	4.37:g.149356498C>A	ENSP00000350815:p.Glu505Asp					NR3C2_uc003ilk.3_Missense_Mutation_p.E505D|NR3C2_uc010iph.2_RNA	p.E505D	NM_000901	NP_000892	P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	2	1849	-	all_hematologic(180;0.151)		505			Modulating.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.1515G>T	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.813544	0.32053	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.39;-2.37;-2.76	5.4	2.15	0.27550	.	0.044806	0.85682	D	0.000000	T	0.79879	0.4522	N	0.19112	0.55	0.48975	D	0.999732	B;B	0.23377	0.032;0.084	B;B	0.22601	0.012;0.04	T	0.67102	-0.5755	9	.	.	.	.	7.2932	0.26378	0.0:0.6287:0.1171:0.2542	.	505;505	B0ZBF5;B0ZBF6	.;.	D	505	ENSP00000341390:E505D;ENSP00000347441:E505D;ENSP00000350815:E505D;ENSP00000423510:E505D;ENSP00000343907:E505D;ENSP00000421481:E505D	.	E	-	3	2	NR3C2	149575948	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	0.764000	0.26532	0.509000	0.28195	0.655000	0.94253	GAG		0.493	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			40	136	1	0	2.75727e-19	0.004878	4.42511e-19	40	136				
TIGD4	201798	broad.mit.edu	37	4	153692094	153692094	+	Silent	SNP	T	T	C	rs377316836		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:153692094T>C	ENST00000304337.2	-	2	883	c.63A>G	c.(61-63)ctA>ctG	p.L21L		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	21	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L21L(2)		breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CCTCAATGGATAGGCTTTTCT	0.388																																							uc003imy.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(61-63)CTA>CTG		tigger transposable element derived 4		T		0,4406		0,0,2203	130.0	126.0	127.0		63	-2.3	0.8	4		127	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TIGD4	NM_145720.3		0,1,6502	CC,CT,TT		0.0116,0.0,0.0077		21/513	153692094	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	201798				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	g.chr4:153692094T>C	AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.63A>G	4.37:g.153692094T>C							p.L21L	NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN			2	845	-	all_hematologic(180;0.093)		21			HTH psq-type.		Q96LP5	Silent	SNP	ENST00000304337.2	37	c.63A>G	CCDS34079.1																																																																																				0.388	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720		36	107	0	0	0	0.004878	0	36	107				
FGB	2244	broad.mit.edu	37	4	155487128	155487128	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:155487128T>A	ENST00000302068.4	+	2	346	c.283T>A	c.(283-285)Tgt>Agt	p.C95S	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	95			Missing (in New York-1). {ECO:0000269|PubMed:3156856}.		blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)	p.C95S(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TGCTGGAGGCTGTCTTCACGC	0.552																																					NSCLC(106;1133 1613 21870 46110 52656)	NSCLC(106;1133 1613 21870 46110 52656)	uc003ioa.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(283-285)TGT>AGT		fibrinogen, beta chain preproprotein	Sucralfate(DB00364)						40.0	37.0	38.0					4																	155487128		2203	4300	6503	SO:0001583	missense	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155487128T>A		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.283T>A	4.37:g.155487128T>A	ENSP00000306099:p.Cys95Ser					FGB_uc010ipu.1_RNA|FGB_uc003iob.3_Missense_Mutation_p.C92S|FGB_uc010ipv.2_Intron|FGB_uc010ipw.2_Missense_Mutation_p.C92S|FGB_uc003ioc.3_Intron	p.C95S	NM_005141	NP_005132	P02675	FIBB_HUMAN			2	322	+	all_hematologic(180;0.215)	Renal(120;0.0458)	95		Missing (in New York-1).			A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	c.283T>A	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.231616	0.79688	.	.	ENSG00000171564	ENST00000302068;ENST00000537843	D	0.91521	-2.86	5.21	5.21	0.72293	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (2);	0.087371	0.85682	D	0.000000	D	0.95072	0.8404	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95666	0.8719	10	0.87932	D	0	.	15.3854	0.74695	0.0:0.0:0.0:1.0	.	95	P02675	FIBB_HUMAN	S	95;78	ENSP00000306099:C95S	ENSP00000306099:C95S	C	+	1	0	FGB	155706578	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	3.826000	0.55738	2.100000	0.63781	0.482000	0.46254	TGT		0.552	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		21	49	0	0	0	0.002299	0	21	49				
GLRB	2743	broad.mit.edu	37	4	158058029	158058029	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:158058029C>A	ENST00000264428.4	+	6	871	c.601C>A	c.(601-603)Ctg>Atg	p.L201M	GLRB_ENST00000541722.1_Missense_Mutation_p.L201M|GLRB_ENST00000509282.1_Missense_Mutation_p.L201M|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	201					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)	p.L201M(2)		central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	CAAGATGCAACTGGAGAGCTG	0.363																																							uc003ipj.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(601-603)CTG>ATG		glycine receptor, beta isoform A precursor	Glycine(DB00145)						96.0	93.0	94.0					4																	158058029		2203	4300	6503	SO:0001583	missense	2743				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	g.chr4:158058029C>A	U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.601C>A	4.37:g.158058029C>A	ENSP00000264428:p.Leu201Met						p.L201M	NM_000824	NP_000815	P48167	GLRB_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	6	803	+	all_hematologic(180;0.24)	Renal(120;0.0458)	201			Extracellular (Probable).		A8K3K2|D3DP23|F5GWE1	Missense_Mutation	SNP	ENST00000264428.4	37	c.601C>A	CCDS3796.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361175	0.24684	.	.	ENSG00000109738	ENST00000264428;ENST00000541722;ENST00000509282	T;T;T	0.80033	-1.33;-1.33;-1.33	5.26	4.4	0.53042	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.81847	0.4909	L	0.42008	1.315	0.51012	D	0.9999	D	0.65815	0.995	P	0.57679	0.825	T	0.82985	-0.0185	10	0.87932	D	0	.	10.921	0.47165	0.0:0.8554:0.0:0.1446	.	201	P48167	GLRB_HUMAN	M	201	ENSP00000264428:L201M;ENSP00000441873:L201M;ENSP00000427186:L201M	ENSP00000264428:L201M	L	+	1	2	GLRB	158277479	0.998000	0.40836	0.952000	0.39060	0.274000	0.26718	3.833000	0.55790	2.611000	0.88343	0.585000	0.79938	CTG		0.363	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1	NM_000824		31	65	1	0	3.00307e-07	0.008361	3.42463e-07	31	65				
MARCH1	55016	broad.mit.edu	37	4	164466875	164466875	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:164466875G>T	ENST00000503008.1	-	7	1420	c.444C>A	c.(442-444)acC>acA	p.T148T	MARCH1_ENST00000339875.5_Silent_p.T131T|MARCH1_ENST00000514618.1_Silent_p.T404T|MARCH1_ENST00000274056.7_Silent_p.T148T	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	148					antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T148T(2)|p.T131T(2)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTTCACTTGTGGTCATCTGTA	0.423																																							uc003iqs.1		NA																	4	Substitution - coding silent(4)		lung(4)	lung(2)	2						c.(442-444)ACC>ACA		membrane-associated RING-CH protein I							246.0	192.0	210.0					4																	164466875		2203	4300	6503	SO:0001819	synonymous_variant	55016				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:164466875G>T	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.444C>A	4.37:g.164466875G>T						MARCH1_uc003iqr.1_Silent_p.T131T	p.T148T	NM_017923	NP_060393	Q8TCQ1	MARH1_HUMAN			7	1421	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	148					D3DP29|Q9NWR0	Silent	SNP	ENST00000503008.1	37	c.444C>A	CCDS54814.1																																																																																				0.423	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		33	89	1	0	3.99451e-17	0.009535	6.18403e-17	33	89				
FAM218A	152756	broad.mit.edu	37	4	165878351	165878351	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:165878351G>T	ENST00000513876.2	+	1	252	c.177G>T	c.(175-177)ttG>ttT	p.L59F	TRIM61_ENST00000329314.5_Intron	NM_153027.1	NP_694572.1	Q96MZ4	F218A_HUMAN	family with sequence similarity 218, member A	59								p.L59F(2)									GTGTCTCTTTGCTCAGACATC	0.612																																							uc003iqx.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(175-177)TTG>TTT		hypothetical protein LOC152756							35.0	30.0	32.0					4																	165878351		2203	4299	6502	SO:0001583	missense	152756							g.chr4:165878351G>T	AK056221	CCDS3807.1	4q32.3	2012-03-01	2012-03-01	2012-03-01	ENSG00000250486	ENSG00000250486			26466	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 39"""	C4orf39		12477932	Standard	NM_153027		Approved	FLJ31659	uc003iqx.1	Q96MZ4	OTTHUMG00000161252	ENST00000513876.2:c.177G>T	4.37:g.165878351G>T	ENSP00000427428:p.Leu59Phe					TRIM61_uc003iqw.2_Intron	p.L59F	NM_153027	NP_694572	Q96MZ4	CD039_HUMAN		GBM - Glioblastoma multiforme(119;0.146)	1	252	+	all_hematologic(180;0.221)	Prostate(90;0.109)	59						Missense_Mutation	SNP	ENST00000513876.2	37	c.177G>T	CCDS3807.1	.	.	.	.	.	.	.	.	.	.	g	7.796	0.712712	0.15306	.	.	ENSG00000250486	ENST00000513876	T	0.57107	0.42	0.543	-0.829	0.10796	.	.	.	.	.	T	0.27594	0.0678	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.11329	0.006	T	0.17349	-1.0372	8	0.87932	D	0	.	.	.	.	.	59	Q96MZ4	CD039_HUMAN	F	59	ENSP00000427428:L59F	ENSP00000427428:L59F	L	+	3	2	C4orf39	166097801	0.000000	0.05858	0.001000	0.08648	0.047000	0.14425	-1.302000	0.02746	-0.410000	0.07542	0.187000	0.17357	TTG		0.612	FAM218A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364308.1	NM_153027		5	24	1	0	5.4927e-09	0.004482	6.64862e-09	5	24				
TLL1	7092	broad.mit.edu	37	4	166935713	166935713	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:166935713G>T	ENST00000061240.2	+	8	1689		c.e8+1		TLL1_ENST00000513213.1_Splice_Site|TLL1_ENST00000507499.1_Splice_Site	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1						cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGATGTCCAGGTATTGCACTA	0.458																																							uc003irh.1		NA																	2	Unknown(2)		lung(2)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.e8+1		tolloid-like 1 precursor							190.0	158.0	169.0					4																	166935713		2203	4300	6503	SO:0001630	splice_region_variant	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166935713G>T	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1042+1G>T	4.37:g.166935713G>T						TLL1_uc011cjn.1_Splice_Site_p.A348_splice|TLL1_uc011cjo.1_Splice_Site_p.A172_splice	p.A348_splice	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	8	1689	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)						B2RMU2|Q96AN3|Q9NQS4	Splice_Site	SNP	ENST00000061240.2	37	c.1042_splice	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738906	0.89573	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6583	0.91462	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TLL1	167155163	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.753000	0.98904	2.387000	0.81309	0.557000	0.71058	.		0.458	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1		Intron	44	191	1	0	2.00842e-17	0.002522	3.14639e-17	44	191				
GPM6A	2823	broad.mit.edu	37	4	176556078	176556078	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:176556078T>A	ENST00000280187.7	-	8	860	c.815A>T	c.(814-816)gAg>gTg	p.E272V	GPM6A_ENST00000393658.2_Missense_Mutation_p.E272V|GPM6A_ENST00000506894.1_Missense_Mutation_p.E261V|GPM6A_ENST00000506219.1_5'UTR|GPM6A_ENST00000515090.1_Missense_Mutation_p.E265V	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	272					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)	p.E272V(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		ATTGAGCCGCTCTTTGGAGCG	0.448																																							uc003iuf.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(814-816)GAG>GTG		glycoprotein M6A isoform 2							126.0	109.0	115.0					4																	176556078		2203	4300	6503	SO:0001583	missense	2823					cell surface|integral to membrane		g.chr4:176556078T>A		CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.815A>T	4.37:g.176556078T>A	ENSP00000280187:p.Glu272Val					GPM6A_uc011ckj.1_Missense_Mutation_p.E265V|GPM6A_uc003iug.2_Missense_Mutation_p.E272V|GPM6A_uc003iuh.2_Missense_Mutation_p.E261V	p.E272V	NM_201591	NP_963885	P51674	GPM6A_HUMAN		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)	7	1619	-		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	272			Cytoplasmic (Potential).		B7Z642|E9PHI5|Q92602	Missense_Mutation	SNP	ENST00000280187.7	37	c.815A>T	CCDS3824.1	.	.	.	.	.	.	.	.	.	.	T	31	5.065165	0.93898	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000506894;ENST00000515090	D;D;D;D	0.99479	-5.94;-5.94;-5.98;-5.94	5.77	5.77	0.91146	.	0.095392	0.64402	D	0.000001	D	0.99275	0.9747	L	0.50333	1.59	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.76071	0.987;0.987;0.987	D	0.99701	1.1004	10	0.87932	D	0	-10.6373	16.3948	0.83586	0.0:0.0:0.0:1.0	.	265;261;272	B7Z642;E9PHI5;P51674	.;.;GPM6A_HUMAN	V	272;272;261;265	ENSP00000280187:E272V;ENSP00000377268:E272V;ENSP00000421578:E261V;ENSP00000423984:E265V	ENSP00000280187:E272V	E	-	2	0	GPM6A	176793072	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.655000	0.83696	2.326000	0.78906	0.533000	0.62120	GAG		0.448	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1			26	68	0	0	0	0.00632	0	26	68				
WDR17	116966	broad.mit.edu	37	4	177069477	177069477	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:177069477G>T	ENST00000280190.4	+	14	2116	c.1960G>T	c.(1960-1962)Gat>Tat	p.D654Y	WDR17_ENST00000507824.2_Missense_Mutation_p.D637Y|WDR17_ENST00000393643.2_Missense_Mutation_p.D630Y|WDR17_ENST00000508596.1_Missense_Mutation_p.D630Y			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	654								p.D654Y(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TCACGGTGCAGATGTATATGG	0.363																																							uc003iuj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(1960-1962)GAT>TAT		WD repeat domain 17 isoform 1							88.0	86.0	86.0					4																	177069477		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177069477G>T	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1960G>T	4.37:g.177069477G>T	ENSP00000280190:p.Asp654Tyr					WDR17_uc003iuk.2_Missense_Mutation_p.D630Y|WDR17_uc003ium.3_Missense_Mutation_p.D630Y|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_5'Flank	p.D654Y	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	14	2116	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	654			WD 12.		E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.1960G>T	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624432	0.87560	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.60299	0.2;0.2;0.2	5.77	5.77	0.91146	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.69566	0.3125	L	0.35288	1.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71189	-0.4666	10	0.72032	D	0.01	-26.969	19.9915	0.97366	0.0:0.0:1.0:0.0	.	630;654	E7EQX0;Q8IZU2	.;WDR17_HUMAN	Y	630;630;654;637	ENSP00000422763:D630Y;ENSP00000377258:D630Y;ENSP00000280190:D654Y	ENSP00000280190:D654Y	D	+	1	0	WDR17	177306471	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.903000	0.92573	2.723000	0.93209	0.655000	0.94253	GAT		0.363	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			18	96	1	0	6.49762e-13	0.006122	9.17585e-13	18	96				
VEGFC	7424	broad.mit.edu	37	4	177608608	177608608	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:177608608C>A	ENST00000280193.2	-	6	1293	c.878G>T	c.(877-879)tGt>tTt	p.C293F	VEGFC_ENST00000507638.1_5'Flank|RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	293	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)	p.C293F(2)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TCTGCAGACACACTGACAGGT	0.483																																							uc003ius.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(5)	5						c.(877-879)TGT>TTT		vascular endothelial growth factor C							72.0	65.0	68.0					4																	177608608		1936	4147	6083	SO:0001583	missense	7424				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	g.chr4:177608608C>A	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.878G>T	4.37:g.177608608C>A	ENSP00000280193:p.Cys293Phe						p.C293F	NM_005429	NP_005420	P49767	VEGFC_HUMAN		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)	6	1308	-		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)	293			4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.|1.		B2R9Q8	Missense_Mutation	SNP	ENST00000280193.2	37	c.878G>T	CCDS43285.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519526	0.85495	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.83830	0.5339	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85181	0.1004	9	0.87932	D	0	-10.0753	19.9099	0.97023	0.0:1.0:0.0:0.0	.	293	P49767	VEGFC_HUMAN	F	293	.	ENSP00000280193:C293F	C	-	2	0	VEGFC	177845602	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.201000	0.77847	2.691000	0.91804	0.650000	0.86243	TGT		0.483	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429		23	89	1	0	1.55795e-14	0.001882	2.26924e-14	23	89				
FAM149A	25854	broad.mit.edu	37	4	187077232	187077232	+	Silent	SNP	G	G	T	rs376227303		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:187077232G>T	ENST00000356371.5	+	7	1335	c.1335G>T	c.(1333-1335)ccG>ccT	p.P445P	FAM149A_ENST00000227065.4_Silent_p.P154P|FAM149A_ENST00000503432.1_Silent_p.P154P|FAM149A_ENST00000502970.1_Silent_p.P154P|FAM149A_ENST00000514153.1_Silent_p.P154P|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000389354.5_Silent_p.P154P			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	445								p.P154P(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CTGTTTCCCCGCGTGACTGTG	0.458																																							uc003iyt.3		NA																	2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(460-462)CCG>CCT		hypothetical protein LOC25854							123.0	113.0	116.0					4																	187077232		2203	4300	6503	SO:0001819	synonymous_variant	25854							g.chr4:187077232G>T	AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1335G>T	4.37:g.187077232G>T						FAM149A_uc011cla.1_Silent_p.P154P|FAM149A_uc010isj.2_Silent_p.P154P|FAM149A_uc010isk.2_RNA|FAM149A_uc003iyu.3_Silent_p.P154P|FAM149A_uc010isl.2_Silent_p.P154P|FAM149A_uc011clb.1_Silent_p.P154P	p.P154P	NM_015398	NP_056213	A5PLN7	F149A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)	7	1041	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	445					B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Silent	SNP	ENST00000356371.5	37	c.462G>T																																																																																					0.458	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655		25	83	1	0	9.57634e-11	0.00333	1.23707e-10	25	83				
ZFP42	132625	broad.mit.edu	37	4	188924008	188924008	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:188924008G>T	ENST00000326866.4	+	4	455	c.47G>T	c.(46-48)gGc>gTc	p.G16V	ZFP42_ENST00000509524.1_Missense_Mutation_p.G16V	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	16					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.G16V(2)		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)		CACCAGAAAGGCCTGGGTGGA	0.547																																							uc003izg.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(46-48)GGC>GTC		zinc finger protein 42							69.0	73.0	72.0					4																	188924008		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.chr4:188924008G>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.47G>T	4.37:g.188924008G>T	ENSP00000317686:p.Gly16Val					ZFP42_uc003izh.1_Missense_Mutation_p.G16V|ZFP42_uc003izi.1_Missense_Mutation_p.G16V	p.G16V	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	292	+		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)	16					D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.47G>T	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180386	0.38511	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.29655	1.56;1.56	4.55	0.856	0.19019	.	0.000000	0.85682	D	0.000000	T	0.37812	0.1017	L	0.46157	1.445	0.09310	N	0.999996	D	0.67145	0.996	P	0.61940	0.896	T	0.13335	-1.0513	10	0.87932	D	0	.	5.8704	0.18801	0.2506:0.141:0.6083:0.0	.	16	Q96MM3	ZFP42_HUMAN	V	16	ENSP00000317686:G16V;ENSP00000424662:G16V	ENSP00000317686:G16V	G	+	2	0	ZFP42	189161002	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	-0.054000	0.11826	0.109000	0.17891	-0.244000	0.11960	GGC		0.547	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		25	132	1	0	1.1804e-14	0.003954	1.73213e-14	25	132				
TRIML2	205860	broad.mit.edu	37	4	189020209	189020209	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:189020209C>A	ENST00000512729.1	-	4	825	c.451G>T	c.(451-453)Ggc>Tgc	p.G151C	TRIML2_ENST00000326754.3_Missense_Mutation_p.G151C|TRIML2_ENST00000536972.1_Missense_Mutation_p.G201C	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	151					protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)	p.G151C(2)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GCCAAGGTGCCTTCCCCACAC	0.458																																							uc003izl.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)	2						c.(451-453)GGC>TGC		tripartite motif family-like 2							91.0	86.0	88.0					4																	189020209		2203	4300	6503	SO:0001583	missense	205860						ligase activity	g.chr4:189020209C>A	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.451G>T	4.37:g.189020209C>A	ENSP00000422581:p.Gly151Cys					TRIML2_uc003izj.1_Translation_Start_Site|TRIML2_uc003izk.1_Translation_Start_Site|TRIML2_uc011cle.1_Missense_Mutation_p.G201C|TRIML2_uc011clf.1_Missense_Mutation_p.G201C	p.G151C	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	4	487	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	151					B7Z6J6	Missense_Mutation	SNP	ENST00000512729.1	37	c.451G>T	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.341993	0.24339	.	.	ENSG00000179046	ENST00000512729;ENST00000326754;ENST00000536972	T;T;T	0.58210	3.54;0.35;3.75	4.61	-9.21	0.00678	.	2.132270	0.02342	N	0.074984	T	0.38852	0.1056	L	0.27053	0.805	0.09310	N	1	P;P;B	0.49253	0.921;0.553;0.327	P;B;B	0.44447	0.45;0.19;0.078	T	0.54873	-0.8228	10	0.48119	T	0.1	.	9.3982	0.38415	0.1619:0.3594:0.4787:0.0	.	201;151;151	B7Z6J6;B7ZLC3;Q8N7C3	.;.;TRIMM_HUMAN	C	151;151;201	ENSP00000422581:G151C;ENSP00000317498:G151C;ENSP00000441236:G201C	ENSP00000317498:G151C	G	-	1	0	TRIML2	189257203	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.340000	0.02650	-1.525000	0.01762	-0.884000	0.02946	GGC		0.458	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		27	94	1	0	7.92952e-12	0.003954	1.06994e-11	27	94				
SLC6A3	6531	broad.mit.edu	37	5	1422011	1422011	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:1422011C>A	ENST00000270349.9	-	5	899	c.772G>T	c.(772-774)Ggc>Tgc	p.G258C	SLC6A3_ENST00000453492.2_Missense_Mutation_p.G258C	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	258					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)	p.G258C(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GTCTTCACGCCCTTCCAGAGG	0.642																																							uc003jck.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)	6						c.(772-774)GGC>TGC		solute carrier family 6 (neurotransmitter	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						111.0	95.0	101.0					5																	1422011		2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1422011C>A		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.772G>T	5.37:g.1422011C>A	ENSP00000270349:p.Gly258Cys						p.G258C	NM_001044	NP_001035	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		5	893	-			258					A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.772G>T	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435010	0.62955	.	.	ENSG00000142319	ENST00000270349;ENST00000453492;ENST00000513308	D;D;D	0.87809	-2.3;-2.3;-2.3	4.4	4.4	0.53042	.	0.061993	0.64402	D	0.000005	D	0.96485	0.8853	H	0.99555	4.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98145	1.0438	10	0.87932	D	0	.	14.8325	0.70159	0.0:1.0:0.0:0.0	.	258	Q01959	SC6A3_HUMAN	C	258;258;184	ENSP00000270349:G258C;ENSP00000399806:G258C;ENSP00000429101:G184C	ENSP00000270349:G258C	G	-	1	0	SLC6A3	1475011	1.000000	0.71417	0.992000	0.48379	0.404000	0.30871	6.949000	0.75971	2.145000	0.66743	0.462000	0.41574	GGC		0.642	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		55	94	1	0	1.19403e-26	0.00361	2.14328e-26	55	94				
SEMA5A	9037	broad.mit.edu	37	5	9063152	9063152	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:9063152C>A	ENST00000382496.5	-	18	3030	c.2365G>T	c.(2365-2367)Gcc>Tcc	p.A789S		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	789	TSP type-1 5. {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.A789S(2)		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						GACGTCCAGGCTGACCAAGCC	0.582																																							uc003jek.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(2365-2367)GCC>TCC		semaphorin 5A precursor							66.0	54.0	58.0					5																	9063152		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9063152C>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.2365G>T	5.37:g.9063152C>A	ENSP00000371936:p.Ala789Ser						p.A789S	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			18	3077	-			789			TSP type-1 5.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.2365G>T	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409026	0.25378	.	.	ENSG00000112902	ENST00000382496	T	0.53423	0.62	5.65	5.65	0.86999	.	0.247114	0.42053	D	0.000779	T	0.26448	0.0646	N	0.05199	-0.095	0.31613	N	0.651228	B	0.12013	0.005	B	0.14023	0.01	T	0.19224	-1.0312	10	0.20046	T	0.44	.	12.8868	0.58049	0.0:0.8367:0.1633:0.0	.	789	Q13591	SEM5A_HUMAN	S	789	ENSP00000371936:A789S	ENSP00000371936:A789S	A	-	1	0	SEMA5A	9116152	0.886000	0.30341	1.000000	0.80357	0.984000	0.73092	1.474000	0.35398	2.659000	0.90383	0.655000	0.94253	GCC		0.582	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			17	60	1	0	3.45872e-05	0.004007	3.76446e-05	17	60				
CTNND2	1501	broad.mit.edu	37	5	11022998	11022998	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:11022998G>T	ENST00000304623.8	-	17	3071	c.2882C>A	c.(2881-2883)aCa>aAa	p.T961K	CTNND2_ENST00000511377.1_Missense_Mutation_p.T870K|CTNND2_ENST00000503622.1_Missense_Mutation_p.T624K|CTNND2_ENST00000359640.2_Missense_Mutation_p.T903K|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.T528K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	961					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T961K(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCAGACAGCTGTCACTGTGTC	0.547																																							uc003jfa.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(2881-2883)ACA>AAA		catenin (cadherin-associated protein), delta 2							220.0	162.0	181.0					5																	11022998		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11022998G>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2882C>A	5.37:g.11022998G>T	ENSP00000307134:p.Thr961Lys					CTNND2_uc010itt.2_Missense_Mutation_p.T870K|CTNND2_uc011cmy.1_Missense_Mutation_p.T624K|CTNND2_uc011cmz.1_Missense_Mutation_p.T528K|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.T553K	p.T961K	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			17	3027	-			961					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.2882C>A	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147873	0.78001	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.64	5.64	0.86602	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55065	0.1897	L	0.50333	1.59	0.80722	D	1	P;P;D	0.63880	0.58;0.58;0.993	B;B;P	0.55923	0.196;0.196;0.787	T	0.49698	-0.8912	10	0.41790	T	0.15	-14.6621	19.7154	0.96115	0.0:0.0:1.0:0.0	.	624;553;961	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	K	961;903;870;56;528;624	ENSP00000307134:T961K;ENSP00000352661:T903K;ENSP00000426510:T870K;ENSP00000391155:T528K;ENSP00000426887:T624K	ENSP00000307134:T961K	T	-	2	0	CTNND2	11075998	1.000000	0.71417	0.972000	0.41901	0.926000	0.56050	9.787000	0.99055	2.664000	0.90586	0.655000	0.94253	ACA		0.547	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		28	96	1	0	8.24728e-16	0.004656	1.24024e-15	28	96				
FBXL7	23194	broad.mit.edu	37	5	15936573	15936573	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:15936573A>C	ENST00000504595.1	+	4	1235	c.754A>C	c.(754-756)Acc>Ccc	p.T252P	FBXL7_ENST00000510662.1_Missense_Mutation_p.T205P|MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000329673.7_Missense_Mutation_p.T240P	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	252					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.T252P(2)		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						CTCCAAAGTGACCTGCATCAG	0.577																																							uc003jfn.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)	3						c.(754-756)ACC>CCC		F-box and leucine-rich repeat protein 7							45.0	45.0	45.0					5																	15936573		2081	4207	6288	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15936573A>C	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.754A>C	5.37:g.15936573A>C	ENSP00000423630:p.Thr252Pro						p.T252P	NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN			4	1235	+			252					B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.754A>C	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.043421	0.75732	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.04862	3.54;3.54;3.54	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.31451	0.0797	M	0.90542	3.125	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.26677	-1.0096	10	0.62326	D	0.03	.	15.262	0.73631	1.0:0.0:0.0:0.0	.	252	Q9UJT9	FBXL7_HUMAN	P	252;205;240	ENSP00000423630:T252P;ENSP00000425184:T205P;ENSP00000329632:T240P	ENSP00000329632:T240P	T	+	1	0	FBXL7	15989573	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.228000	0.95250	2.019000	0.59389	0.533000	0.62120	ACC		0.577	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		17	31	0	0	0	0.00499	0	17	31				
CDH9	1007	broad.mit.edu	37	5	26915967	26915967	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:26915967G>A	ENST00000231021.4	-	3	466	c.294C>T	c.(292-294)ggC>ggT	p.G98G		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	98	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G98G(2)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CAAATAGACTGCCAGCCCCAT	0.368																																					Melanoma(8;187 585 15745 40864 52829)	Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NA																	2	Substitution - coding silent(2)	p.G98C(1)	lung(2)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(292-294)GGC>GGT		cadherin 9, type 2 preproprotein							110.0	113.0	112.0					5																	26915967		2203	4299	6502	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26915967G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.294C>T	5.37:g.26915967G>A						CDH9_uc010iug.2_Silent_p.G98G	p.G98G	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			3	463	-			98			Extracellular (Potential).|Cadherin 1.		Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.294C>T	CCDS3893.1																																																																																				0.368	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		48	154	0	0	0	0.00361	0	48	154				
ADAMTS12	81792	broad.mit.edu	37	5	33643548	33643548	+	Missense_Mutation	SNP	C	C	A	rs138321976		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:33643548C>A	ENST00000504830.1	-	10	1842	c.1507G>T	c.(1507-1509)Gtg>Ttg	p.V503L	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.V503L|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	503	Disintegrin.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V503L(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AAGCCCTTCACGGAGCACCAC	0.468										HNSCC(64;0.19)																													uc003jia.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(1507-1509)GTG>TTG		ADAM metallopeptidase with thrombospondin type 1							142.0	140.0	141.0					5																	33643548		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33643548C>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1507G>T	5.37:g.33643548C>A	ENSP00000422554:p.Val503Leu	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.V503L	p.V503L	NM_030955	NP_112217	P58397	ATS12_HUMAN			10	1670	-			503			Disintegrin.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.1507G>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682375	0.88542	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.59364	0.27;0.3	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.74589	0.3736	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.87578	0.998;0.91	T	0.69105	-0.5233	10	0.23891	T	0.37	.	19.5412	0.95275	0.0:1.0:0.0:0.0	.	503;503	P58397-3;P58397	.;ATS12_HUMAN	L	503	ENSP00000422554:V503L;ENSP00000344847:V503L	ENSP00000344847:V503L	V	-	1	0	ADAMTS12	33679305	1.000000	0.71417	0.989000	0.46669	0.594000	0.36715	7.629000	0.83207	2.611000	0.88343	0.462000	0.41574	GTG		0.468	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		42	110	1	0	1.41504e-22	0.002852	2.39795e-22	42	110				
SLC1A3	6507	broad.mit.edu	37	5	36686351	36686351	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:36686351G>T	ENST00000265113.4	+	10	2085	c.1609G>T	c.(1609-1611)Gac>Tac	p.D537Y	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Missense_Mutation_p.D492Y	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	537					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.D537Y(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAAACCCATCGACAGTGAAAC	0.363																																							uc003jkj.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1609-1611)GAC>TAC		solute carrier family 1 (glial high affinity	L-Glutamic Acid(DB00142)						120.0	122.0	121.0					5																	36686351		2203	4300	6503	SO:0001583	missense	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36686351G>T		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.1609G>T	5.37:g.36686351G>T	ENSP00000265113:p.Asp537Tyr					SLC1A3_uc011cox.1_Missense_Mutation_p.D430Y|SLC1A3_uc010iuy.2_Missense_Mutation_p.D492Y	p.D537Y	NM_004172	NP_004163	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		10	2085	+	all_lung(31;0.000245)		537					B2R5T3|Q4JCQ8	Missense_Mutation	SNP	ENST00000265113.4	37	c.1609G>T	CCDS3919.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281489	0.80692	.	.	ENSG00000079215	ENST00000265113;ENST00000427100;ENST00000381918	T;T	0.60040	0.38;0.22	5.62	5.62	0.85841	.	0.516357	0.22139	N	0.064073	T	0.56746	0.2006	N	0.08118	0	0.58432	D	0.999997	D;D	0.61697	0.99;0.986	P;P	0.58013	0.831;0.577	T	0.66428	-0.5926	10	0.72032	D	0.01	-28.1025	19.6689	0.95903	0.0:0.0:1.0:0.0	.	492;537	Q4JCQ8;P43003	.;EAA1_HUMAN	Y	537;485;492	ENSP00000265113:D537Y;ENSP00000371343:D492Y	ENSP00000265113:D537Y	D	+	1	0	SLC1A3	36722108	1.000000	0.71417	0.958000	0.39756	0.996000	0.88848	4.259000	0.58828	2.642000	0.89623	0.655000	0.94253	GAC		0.363	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		64	128	1	0	2.50483e-33	0.00361	4.80244e-33	64	128				
WDR70	55100	broad.mit.edu	37	5	37703180	37703180	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:37703180C>G	ENST00000265107.4	+	13	1563	c.1407C>G	c.(1405-1407)atC>atG	p.I469M	RNU6-484P_ENST00000384016.1_RNA	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	469							enzyme binding (GO:0019899)	p.I469M(2)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAATAGACATCACAGATGCGG	0.393																																							uc003jkv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1405-1407)ATC>ATG		WD repeat domain 70							119.0	107.0	111.0					5																	37703180		2203	4300	6503	SO:0001583	missense	55100							g.chr5:37703180C>G	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1407C>G	5.37:g.37703180C>G	ENSP00000265107:p.Ile469Met						p.I469M	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		13	1465	+	all_lung(31;0.000285)		469			WD 7.		Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	c.1407C>G	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929915	0.52759	.	.	ENSG00000082068	ENST00000265107	T	0.01335	5.0	5.76	4.9	0.64082	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.144107	0.45606	D	0.000345	T	0.01695	0.0054	L	0.43923	1.385	0.80722	D	1	P	0.37864	0.61	B	0.32864	0.154	T	0.67753	-0.5589	10	0.33940	T	0.23	-35.4067	12.0848	0.53691	0.0:0.8575:0.0:0.1425	.	469	Q9NW82	WDR70_HUMAN	M	469	ENSP00000265107:I469M	ENSP00000265107:I469M	I	+	3	3	WDR70	37738937	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.883000	0.39658	1.580000	0.49851	0.650000	0.86243	ATC		0.393	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		16	126	0	0	0	0.004007	0	16	126				
MROH2B	133558	broad.mit.edu	37	5	40999785	40999785	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:40999785G>C	ENST00000399564.4	-	40	5029	c.4579C>G	c.(4579-4581)Ctc>Gtc	p.L1527V	MROH2B_ENST00000506092.2_Missense_Mutation_p.L1082V	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1527								p.L1527V(2)									TCACCTGTGAGTTTGACAGCT	0.483																																							uc003jmj.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|central_nervous_system(2)	8						c.(4579-4581)CTC>GTC		HEAT repeat family member 7B2							171.0	174.0	173.0					5																	40999785		1950	4152	6102	SO:0001583	missense	133558						binding	g.chr5:40999785G>C		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.4579C>G	5.37:g.40999785G>C	ENSP00000382476:p.Leu1527Val					HEATR7B2_uc003jmi.3_Missense_Mutation_p.L1082V	p.L1527V	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			40	5069	-			1527					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.4579C>G	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532001	0.64972	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.65916	-0.18;-0.18	4.84	4.84	0.62591	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.46442	D	0.000291	T	0.75910	0.3914	M	0.68593	2.085	0.36356	D	0.8604	D	0.67145	0.996	D	0.80764	0.994	T	0.81623	-0.0849	10	0.62326	D	0.03	.	13.3084	0.60365	0.0:0.0:1.0:0.0	.	1527	Q7Z745	HTRB2_HUMAN	V	1082;1232;1527	ENSP00000441504:L1082V;ENSP00000382476:L1527V	ENSP00000296803:L1232V	L	-	1	0	HEATR7B2	41035542	0.995000	0.38212	1.000000	0.80357	0.972000	0.66771	2.122000	0.41987	2.508000	0.84585	0.655000	0.94253	CTC		0.483	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		25	73	0	0	0	0.003954	0	25	73				
ESM1	11082	broad.mit.edu	37	5	54281167	54281167	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:54281167C>A	ENST00000381405.4	-	1	324	c.179G>T	c.(178-180)gGg>gTg	p.G60V	ESM1_ENST00000598310.1_Intron|ESM1_ENST00000381403.4_Missense_Mutation_p.G60V	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	60	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				angiogenesis (GO:0001525)|positive regulation of cell proliferation (GO:0008284)|positive regulation of hepatocyte growth factor receptor signaling pathway (GO:1902204)|regulation of cell growth (GO:0001558)|sprouting angiogenesis (GO:0002040)	extracellular region (GO:0005576)	hepatocyte growth factor receptor binding (GO:0005171)|integrin binding (GO:0005178)	p.G60V(2)		breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			TTCTCCCCGCCCTGCAGCGCA	0.602																																							uc003jpk.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(178-180)GGG>GTG		endothelial cell-specific molecule 1 isoform a							64.0	60.0	61.0					5																	54281167		2203	4300	6503	SO:0001583	missense	11082				angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding	g.chr5:54281167C>A	X89426	CCDS3963.1, CCDS47206.1	5q11	2008-02-05			ENSG00000164283	ENSG00000164283			3466	protein-coding gene	gene with protein product		601521				8702785	Standard	NM_001135604		Approved		uc003jpk.3	Q9NQ30	OTTHUMG00000097010	ENST00000381405.4:c.179G>T	5.37:g.54281167C>A	ENSP00000370812:p.Gly60Val					ESM1_uc010ivt.2_Missense_Mutation_p.G60V	p.G60V	NM_007036	NP_008967	Q9NQ30	ESM1_HUMAN	Lung(15;0.23)		1	248	-		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	60			IGFBP N-terminal.		B2R4G3|Q15330|Q3V4E3|Q96ES3	Missense_Mutation	SNP	ENST00000381405.4	37	c.179G>T	CCDS3963.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645068	0.47258	.	.	ENSG00000164283	ENST00000381405;ENST00000381403	T;T	0.56941	0.43;0.43	5.34	3.44	0.39384	Insulin-like growth factor-binding protein, IGFBP (3);	0.177594	0.48767	D	0.000162	T	0.53481	0.1799	L	0.56280	1.765	0.53688	D	0.99997	B;D	0.53619	0.134;0.961	B;P	0.50825	0.047;0.651	T	0.52555	-0.8560	10	0.41790	T	0.15	-12.9699	9.4069	0.38466	0.0:0.636:0.2701:0.0939	.	60;60	Q3V4E3;Q9NQ30	.;ESM1_HUMAN	V	60	ENSP00000370812:G60V;ENSP00000370810:G60V	ENSP00000370810:G60V	G	-	2	0	ESM1	54316924	0.059000	0.20769	0.251000	0.24312	0.994000	0.84299	0.988000	0.29616	1.238000	0.43771	0.563000	0.77884	GGG		0.602	ESM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214099.2	NM_007036		23	70	1	0	1.96895e-08	0.00278	2.31572e-08	23	70				
ANKRD55	79722	broad.mit.edu	37	5	55406997	55406997	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:55406997G>T	ENST00000341048.4	-	10	1729	c.1578C>A	c.(1576-1578)caC>caA	p.H526Q	ANKRD55_ENST00000434982.2_Missense_Mutation_p.H238Q|ANKRD55_ENST00000504958.2_Missense_Mutation_p.H483Q|ANKRD55_ENST00000505970.2_5'Flank	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	526								p.H526Q(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				AGACCTCTTGGTGACCAGGCC	0.463																																							uc003jqu.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1576-1578)CAC>CAA		ankyrin repeat domain 55 isoform 1							148.0	146.0	147.0					5																	55406997		2203	4300	6503	SO:0001583	missense	79722							g.chr5:55406997G>T	AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.1578C>A	5.37:g.55406997G>T	ENSP00000342295:p.His526Gln					ANKRD55_uc003jqt.2_Missense_Mutation_p.H238Q	p.H526Q	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN			10	1730	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	525					B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	ENST00000341048.4	37	c.1578C>A	CCDS34161.1	.	.	.	.	.	.	.	.	.	.	.	8.664	0.901240	0.17760	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958;ENST00000434982	T;T;T	0.39406	1.33;1.08;1.45	5.63	3.8	0.43715	.	0.284028	0.34338	N	0.004047	T	0.28167	0.0695	L	0.29908	0.895	0.23572	N	0.997385	B;B	0.18741	0.003;0.03	B;B	0.12837	0.004;0.008	T	0.14200	-1.0481	10	0.42905	T	0.14	.	7.6541	0.28365	0.1316:0.0:0.7253:0.1431	.	526;525	B3KVT8;Q3KP44	.;ANR55_HUMAN	Q	526;526;483;238	ENSP00000342295:H526Q;ENSP00000424230:H483Q;ENSP00000429421:H238Q	ENSP00000342295:H526Q	H	-	3	2	ANKRD55	55442754	1.000000	0.71417	0.992000	0.48379	0.258000	0.26162	2.307000	0.43682	1.493000	0.48517	0.655000	0.94253	CAC		0.463	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		67	222	1	0	1.64915e-30	0.00361	3.12387e-30	67	222				
CENPK	64105	broad.mit.edu	37	5	64824289	64824289	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:64824289T>C	ENST00000396679.1	-	9	801	c.587A>G	c.(586-588)aAa>aGa	p.K196R	CENPK_ENST00000514814.1_Missense_Mutation_p.K196R|CENPK_ENST00000508421.1_Missense_Mutation_p.K166R|CENPK_ENST00000506282.2_5'UTR|CENPK_ENST00000242872.3_Missense_Mutation_p.K196R|CENPK_ENST00000510693.1_Missense_Mutation_p.K133R	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	196					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)		p.K196R(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		CTTTTTCTTTTTAACACTTCT	0.284																																							uc003jts.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(586-588)AAA>AGA		SoxLZ/Sox6 leucine zipper binding protein							34.0	38.0	36.0					5																	64824289		2203	4286	6489	SO:0001583	missense	64105				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm		g.chr5:64824289T>C	BC008504	CCDS3984.1	5q12.3	2013-11-05			ENSG00000123219	ENSG00000123219			29479	protein-coding gene	gene with protein product		611502				8950979	Standard	NM_022145		Approved	FKSG14, SOLT, CENP-K	uc003jtu.3	Q9BS16	OTTHUMG00000131227	ENST00000396679.1:c.587A>G	5.37:g.64824289T>C	ENSP00000379911:p.Lys196Arg					CENPK_uc003jtt.2_Missense_Mutation_p.K166R|CENPK_uc003jtu.2_Missense_Mutation_p.K196R	p.K196R	NM_022145	NP_071428	Q9BS16	CENPK_HUMAN		Lung(70;0.00466)	9	799	-		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	196					Q9H4L0	Missense_Mutation	SNP	ENST00000396679.1	37	c.587A>G	CCDS3984.1	.	.	.	.	.	.	.	.	.	.	T	15.98	2.993152	0.54041	.	.	ENSG00000123219	ENST00000514814;ENST00000396679;ENST00000242872;ENST00000508421;ENST00000510693	.	.	.	5.27	4.09	0.47781	.	0.435715	0.28042	N	0.016821	T	0.42675	0.1213	L	0.55481	1.735	0.34549	D	0.711103	B	0.34103	0.437	B	0.32805	0.153	T	0.50215	-0.8854	9	0.21014	T	0.42	-18.1178	7.9861	0.30213	0.0:0.0717:0.1376:0.7907	.	196	Q9BS16	CENPK_HUMAN	R	196;196;196;166;133	.	ENSP00000242872:K196R	K	-	2	0	CENPK	64860045	0.998000	0.40836	0.957000	0.39632	0.686000	0.39977	1.265000	0.33027	0.897000	0.36392	0.482000	0.46254	AAA		0.284	CENPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253971.2	NM_022145		12	33	0	0	0	0.00245	0	12	33				
ANKRD32	84250	broad.mit.edu	37	5	94014519	94014519	+	Nonsense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:94014519A>T	ENST00000265140.5	+	15	2253	c.1834A>T	c.(1834-1836)Aaa>Taa	p.K612*		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	612						centrosome (GO:0005813)|nucleus (GO:0005634)		p.K612*(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		TTAGGTCTTCAAACATGAACT	0.299																																							uc003kkr.3		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(1834-1836)AAA>TAA		ankyrin repeat domain 32							157.0	122.0	133.0					5																	94014519		692	1591	2283	SO:0001587	stop_gained	84250							g.chr5:94014519A>T	AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.1834A>T	5.37:g.94014519A>T	ENSP00000265140:p.Lys612*					ANKRD32_uc003kks.2_5'UTR	p.K612*	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN		all cancers(79;3.88e-18)	15	1914	+		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)	612					B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Nonsense_Mutation	SNP	ENST00000265140.5	37	c.1834A>T	CCDS4071.2	.	.	.	.	.	.	.	.	.	.	A	43	10.462913	0.99410	.	.	ENSG00000133302	ENST00000265140	.	.	.	5.56	5.56	0.83823	.	0.143817	0.31821	N	0.007015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.113	0.42574	0.9252:0.0:0.0748:0.0	.	.	.	.	X	612	.	ENSP00000265140:K612X	K	+	1	0	ANKRD32	94040275	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	3.507000	0.53371	2.105000	0.64084	0.455000	0.32223	AAA		0.299	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1	NM_032290		9	23	0	0	0	0.003163	0	9	23				
CCDC112	153733	broad.mit.edu	37	5	114611088	114611088	+	Missense_Mutation	SNP	C	C	A	rs141845700		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:114611088C>A	ENST00000512261.1	-	7	910	c.494G>T	c.(493-495)gGt>gTt	p.G165V	CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000395557.4_Missense_Mutation_p.G165V|CCDC112_ENST00000506442.1_Missense_Mutation_p.G165V|CCDC112_ENST00000379611.5_Missense_Mutation_p.G248V			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	165								p.G248V(2)		endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		ATCCCAGGCACCTTGTCGCCC	0.408																																							uc003kqy.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(493-495)GGT>GTT		coiled-coil domain containing 112 isoform 2							146.0	145.0	146.0					5																	114611088		2202	4300	6502	SO:0001583	missense	153733							g.chr5:114611088C>A	BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.494G>T	5.37:g.114611088C>A	ENSP00000423712:p.Gly165Val					CCDC112_uc003kqz.2_Missense_Mutation_p.G248V|CCDC112_uc003kra.2_Missense_Mutation_p.G248V	p.G165V	NM_152549	NP_689762	Q8NEF3	CC112_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)	6	1007	-		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	165					Q6A334	Missense_Mutation	SNP	ENST00000512261.1	37	c.494G>T	CCDS4117.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480497	0.84747	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	T;T;T;T	0.32988	1.43;1.52;1.52;1.52	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.59756	0.2217	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.58956	-0.7544	10	0.62326	D	0.03	-14.8467	20.3886	0.98946	0.0:1.0:0.0:0.0	.	165;248;165	D6RF76;Q8NEF3-2;Q8NEF3	.;.;CC112_HUMAN	V	248;165;165;165	ENSP00000368931:G248V;ENSP00000423712:G165V;ENSP00000424876:G165V;ENSP00000378925:G165V	ENSP00000368931:G248V	G	-	2	0	CCDC112	114638987	1.000000	0.71417	0.529000	0.27951	0.941000	0.58515	6.453000	0.73488	2.810000	0.96702	0.650000	0.86243	GGT		0.408	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549		55	139	1	0	1.86277e-20	0.00361	3.07084e-20	55	139				
LVRN	206338	broad.mit.edu	37	5	115346543	115346543	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:115346543G>T	ENST00000357872.4	+	14	2323	c.2199G>T	c.(2197-2199)agG>agT	p.R733S		NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		733						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R733S(2)									TGGTAACCAGGGATCTTGTTT	0.308																																							uc003kro.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2197-2199)AGG>AGT		laeverin							132.0	138.0	136.0					5																	115346543		2202	4300	6502	SO:0001583	missense	206338				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115346543G>T																												ENST00000357872.4:c.2199G>T	5.37:g.115346543G>T	ENSP00000350541:p.Arg733Ser					AQPEP_uc003krp.2_Intron|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_Intron	p.R733S	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN			14	2363	+			733			Lumenal (Potential).		A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	c.2199G>T	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	G	5.298	0.240383	0.10023	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.05319	3.46	6.03	-2.95	0.05564	.	1.267770	0.05054	N	0.478727	T	0.03651	0.0104	N	0.25144	0.715	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.44877	-0.9299	10	0.16420	T	0.52	.	2.1727	0.03854	0.1325:0.194:0.2965:0.3769	.	733	Q6Q4G3	AMPQ_HUMAN	S	733;722	ENSP00000350541:R733S	ENSP00000350541:R733S	R	+	3	2	AC010282.1	115374442	0.002000	0.14202	0.169000	0.22859	0.466000	0.32739	0.111000	0.15458	-0.075000	0.12798	0.655000	0.94253	AGG		0.308	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			20	37	1	0	1.01871e-10	0.008871	1.31168e-10	20	37				
DMXL1	1657	broad.mit.edu	37	5	118468880	118468880	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:118468880G>T	ENST00000311085.8	+	11	1449	c.1369G>T	c.(1369-1371)Ggc>Tgc	p.G457C	DMXL1_ENST00000539542.1_Missense_Mutation_p.G457C	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	457								p.G457C(2)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GAAGGAATTAGGCTGTGATAA	0.343																																							uc003ksd.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1369-1371)GGC>TGC		Dmx-like 1							110.0	105.0	107.0					5																	118468880		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118468880G>T	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.1369G>T	5.37:g.118468880G>T	ENSP00000309690:p.Gly457Cys					DMXL1_uc010jcl.1_Missense_Mutation_p.G457C|DMXL1_uc003ksc.1_Missense_Mutation_p.G457C	p.G457C	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	11	1550	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	457						Missense_Mutation	SNP	ENST00000311085.8	37	c.1369G>T	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	7.772	0.707698	0.15239	.	.	ENSG00000172869	ENST00000503802;ENST00000311085;ENST00000539542	T;T;T	0.45668	0.89;0.89;0.89	5.42	0.716	0.18191	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.571454	0.19696	N	0.108144	T	0.42449	0.1203	L	0.52573	1.65	0.09310	N	1	P;P	0.48503	0.911;0.771	P;B	0.49752	0.621;0.395	T	0.30851	-0.9964	10	0.66056	D	0.02	-0.0114	8.8931	0.35446	0.5611:0.0:0.4389:0.0	.	457;457	F5H269;Q9Y485	.;DMXL1_HUMAN	C	457	ENSP00000427692:G457C;ENSP00000309690:G457C;ENSP00000439479:G457C	ENSP00000309690:G457C	G	+	1	0	DMXL1	118496779	0.015000	0.18098	0.076000	0.20297	0.059000	0.15707	0.105000	0.15333	0.208000	0.20626	0.591000	0.81541	GGC		0.343	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		32	94	1	0	2.46105e-21	0.002096	4.12619e-21	32	94				
MEGF10	84466	broad.mit.edu	37	5	126774191	126774191	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:126774191C>A	ENST00000274473.6	+	18	2432	c.2165C>A	c.(2164-2166)gCt>gAt	p.A722D	MEGF10_ENST00000503335.2_Missense_Mutation_p.A722D	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	722	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.A722D(2)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CATAATGGAGCTTTCTGCAGC	0.532																																							uc003kuh.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(2164-2166)GCT>GAT		multiple EGF-like-domains 10 precursor							153.0	130.0	138.0					5																	126774191		2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126774191C>A	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2165C>A	5.37:g.126774191C>A	ENSP00000274473:p.Ala722Asp					MEGF10_uc003kui.3_Missense_Mutation_p.A722D	p.A722D	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	18	2527	+		Prostate(80;0.165)	722			Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EGF-like 13.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.2165C>A	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668170	0.88348	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	T;T	0.52983	0.64;0.64	5.92	5.92	0.95590	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	T	0.75496	0.3857	M	0.90705	3.14	0.80722	D	1	D	0.69078	0.997	D	0.67382	0.951	T	0.78710	-0.2098	10	0.59425	D	0.04	-21.3803	20.3214	0.98679	0.0:1.0:0.0:0.0	.	722	Q96KG7	MEG10_HUMAN	D	722	ENSP00000423354:A722D;ENSP00000274473:A722D	ENSP00000274473:A722D	A	+	2	0	MEGF10	126802090	1.000000	0.71417	0.998000	0.56505	0.387000	0.30353	7.783000	0.85696	2.804000	0.96469	0.655000	0.94253	GCT		0.532	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		38	103	1	0	1.03172e-35	0.00361	2.0074e-35	38	103				
MEGF10	84466	broad.mit.edu	37	5	126776495	126776495	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:126776495C>T	ENST00000274473.6	+	19	2565	c.2298C>T	c.(2296-2298)gaC>gaT	p.D766D	MEGF10_ENST00000503335.2_Silent_p.D766D	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	766	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.D766D(2)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ACGGAGCTGACTGCGACCACA	0.507																																							uc003kuh.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)	4						c.(2296-2298)GAC>GAT		multiple EGF-like-domains 10 precursor							162.0	144.0	150.0					5																	126776495		2203	4300	6503	SO:0001819	synonymous_variant	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126776495C>T	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2298C>T	5.37:g.126776495C>T						MEGF10_uc003kui.3_Silent_p.D766D	p.D766D	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	19	2660	+		Prostate(80;0.165)	766			Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EGF-like 14.		Q68DE5|Q8WUL3	Silent	SNP	ENST00000274473.6	37	c.2298C>T	CCDS4142.1																																																																																				0.507	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		45	107	0	0	0	0.002852	0	45	107				
FBN2	2201	broad.mit.edu	37	5	127727745	127727745	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:127727745C>A	ENST00000508053.1	-	17	2543	c.1569G>T	c.(1567-1569)atG>atT	p.M523I	FBN2_ENST00000508989.1_Missense_Mutation_p.M490I|FBN2_ENST00000262464.4_Missense_Mutation_p.M523I			P35556	FBN2_HUMAN	fibrillin 2	523	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.M523I(4)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCTTATAACCCATGTTGCATT	0.348																																							uc003kuu.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(1567-1569)ATG>ATT		fibrillin 2 precursor							140.0	131.0	134.0					5																	127727745		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127727745C>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1569G>T	5.37:g.127727745C>A	ENSP00000424571:p.Met523Ile					FBN2_uc003kuv.2_Missense_Mutation_p.M490I	p.M523I	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	11	2008	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	523			EGF-like 6.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.1569G>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326316	0.41197	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.86956	-2.19;-2.19;-2.19	4.14	4.14	0.48551	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.077337	0.52532	D	0.000071	T	0.81983	0.4938	N	0.10916	0.065	0.51233	D	0.999911	B;P	0.35872	0.404;0.525	B;P	0.45428	0.096;0.48	T	0.82172	-0.0589	10	0.37606	T	0.19	.	17.7235	0.88359	0.0:1.0:0.0:0.0	.	490;523	D6RJI3;P35556	.;FBN2_HUMAN	I	523;523;490	ENSP00000262464:M523I;ENSP00000424571:M523I;ENSP00000425596:M490I	ENSP00000262464:M523I	M	-	3	0	FBN2	127755644	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.411000	0.52672	2.592000	0.87571	0.585000	0.79938	ATG		0.348	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		22	50	1	0	3.5997e-14	0.002299	5.2047e-14	22	50				
FBN2	2201	broad.mit.edu	37	5	127730885	127730885	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:127730885C>A	ENST00000508053.1	-	15	2135	c.1161G>T	c.(1159-1161)caG>caT	p.Q387H	FBN2_ENST00000508989.1_Missense_Mutation_p.Q354H|FBN2_ENST00000262464.4_Missense_Mutation_p.Q387H			P35556	FBN2_HUMAN	fibrillin 2	387	TB 2.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.Q387H(4)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CACAGCAGCACTGCATTTTCG	0.552																																							uc003kuu.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(1159-1161)CAG>CAT		fibrillin 2 precursor							88.0	80.0	83.0					5																	127730885		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127730885C>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1161G>T	5.37:g.127730885C>A	ENSP00000424571:p.Gln387His					FBN2_uc003kuv.2_Missense_Mutation_p.Q354H	p.Q387H	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	9	1600	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	387			TB 2.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.1161G>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780226	0.70222	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.93366	-3.21;-3.21;-3.21	4.44	-3.68	0.04463	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.64402	D	0.000011	D	0.94775	0.8313	L	0.61387	1.9	0.42735	D	0.993722	D;D	0.67145	0.996;0.996	D;D	0.81914	0.995;0.995	D	0.92709	0.6181	10	0.59425	D	0.04	.	15.0635	0.71973	0.0:0.7601:0.0:0.2399	.	354;387	D6RJI3;P35556	.;FBN2_HUMAN	H	387;387;354	ENSP00000262464:Q387H;ENSP00000424571:Q387H;ENSP00000425596:Q354H	ENSP00000262464:Q387H	Q	-	3	2	FBN2	127758784	0.958000	0.32768	0.844000	0.33320	0.938000	0.57974	0.117000	0.15583	-0.812000	0.04363	-0.136000	0.14681	CAG		0.552	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		18	36	1	0	1.00905e-13	0.008871	1.44569e-13	18	36				
SLC27A6	28965	broad.mit.edu	37	5	128324424	128324424	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:128324424C>A	ENST00000262462.4	+	3	1827	c.817C>A	c.(817-819)Ctg>Atg	p.L273M	SLC27A6_ENST00000395266.1_Missense_Mutation_p.L273M|SLC27A6_ENST00000506176.1_Missense_Mutation_p.L273M			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	273					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.L273M(2)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGCAGCTATCCTGGGAATTTC	0.358																																							uc003kuy.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(817-819)CTG>ATG		solute carrier family 27 (fatty acid							231.0	222.0	225.0					5																	128324424		2203	4300	6503	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128324424C>A	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.817C>A	5.37:g.128324424C>A	ENSP00000262462:p.Leu273Met					SLC27A6_uc003kuz.2_Missense_Mutation_p.L273M	p.L273M	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	4	1213	+		all_cancers(142;0.0483)|Prostate(80;0.055)	273					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.817C>A	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	C	5.144	0.212078	0.09757	.	.	ENSG00000113396	ENST00000508645;ENST00000262462;ENST00000395266;ENST00000506176	T;T;T;T	0.51325	2.79;0.71;0.71;0.71	4.18	-0.698	0.11280	AMP-dependent synthetase/ligase (1);	0.552354	0.18863	N	0.129065	T	0.33731	0.0873	L	0.38531	1.155	0.25101	N	0.990787	B	0.28636	0.218	B	0.39152	0.292	T	0.23583	-1.0184	9	.	.	.	-3.4378	2.0454	0.03559	0.2465:0.373:0.2399:0.1407	.	273	Q9Y2P4	S27A6_HUMAN	M	92;273;273;273	ENSP00000421759:L92M;ENSP00000262462:L273M;ENSP00000378684:L273M;ENSP00000421024:L273M	.	L	+	1	2	SLC27A6	128352323	0.001000	0.12720	0.423000	0.26634	0.207000	0.24258	-0.129000	0.10515	-0.145000	0.11294	-0.868000	0.02995	CTG		0.358	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		69	170	1	0	6.52717e-41	0.00361	1.29231e-40	69	170				
ADAMTS19	171019	broad.mit.edu	37	5	128956400	128956400	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:128956400G>T	ENST00000274487.4	+	9	1695	c.1550G>T	c.(1549-1551)gGt>gTt	p.G517V	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	517	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G517V(2)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CAGAATCTTGGTGACGTTTCA	0.418																																							uc003kvb.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|breast(2)|lung(1)|skin(1)	9						c.(1549-1551)GGT>GTT		ADAM metallopeptidase with thrombospondin type 1							211.0	196.0	201.0					5																	128956400		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128956400G>T	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1550G>T	5.37:g.128956400G>T	ENSP00000274487:p.Gly517Val					ADAMTS19_uc010jdh.1_RNA	p.G517V	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	9	1550	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	517			Peptidase M12B.			Missense_Mutation	SNP	ENST00000274487.4	37	c.1550G>T	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438612	0.83885	.	.	ENSG00000145808	ENST00000274487	D	0.86230	-2.09	4.51	4.51	0.55191	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.069244	0.56097	D	0.000023	D	0.87931	0.6302	N	0.17082	0.46	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.86561	0.1841	9	.	.	.	.	18.5315	0.90993	0.0:0.0:1.0:0.0	.	517	Q8TE59	ATS19_HUMAN	V	517	ENSP00000274487:G517V	.	G	+	2	0	ADAMTS19	128984299	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.365000	0.90108	2.783000	0.95769	0.655000	0.94253	GGT		0.418	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		55	131	1	0	1.54886e-18	0.00361	2.46566e-18	55	131				
PKD2L2	27039	broad.mit.edu	37	5	137235237	137235237	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:137235237C>T	ENST00000508883.1	+	5	583	c.557C>T	c.(556-558)cCt>cTt	p.P186L	PKD2L2_ENST00000290431.5_Missense_Mutation_p.P186L|PKD2L2_ENST00000350250.4_Missense_Mutation_p.P152L|PKD2L2_ENST00000502810.1_Missense_Mutation_p.P186L|PKD2L2_ENST00000508638.1_Missense_Mutation_p.P186L			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	186					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.P186L(2)		breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACCAACTCCCCTTGGCACTGG	0.353																																							uc003lby.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(556-558)CCT>CTT		polycystic kidney disease 2-like 2							123.0	112.0	115.0					5																	137235237		1824	4091	5915	SO:0001583	missense	27039					integral to membrane	calcium ion binding|ion channel activity	g.chr5:137235237C>T	AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.557C>T	5.37:g.137235237C>T	ENSP00000424725:p.Pro186Leu					PKD2L2_uc010jep.1_Missense_Mutation_p.P126L|PKD2L2_uc003lbw.1_Missense_Mutation_p.P186L|PKD2L2_uc003lbx.2_Missense_Mutation_p.P186L|PKD2L2_uc011cyi.1_5'UTR	p.P186L	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		5	613	+			186			Extracellular (Potential).		A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Missense_Mutation	SNP	ENST00000508883.1	37	c.557C>T		.	.	.	.	.	.	.	.	.	.	C	14.52	2.559273	0.45590	.	.	ENSG00000078795	ENST00000503015;ENST00000350250;ENST00000508638;ENST00000502810;ENST00000508883;ENST00000290431	T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	5.21	3.4	0.38934	Polycystin cation channel, PKD1/PKD2 (1);	0.592975	0.15932	N	0.237611	T	0.72447	0.3461	L	0.53249	1.67	0.42510	D	0.992966	B;D;D	0.71674	0.082;0.998;0.994	B;D;P	0.68765	0.038;0.96;0.844	T	0.66818	-0.5827	10	0.12103	T	0.63	-10.1075	10.3287	0.43809	0.0:0.8356:0.0:0.1644	.	186;186;186	Q9NZM6;E9PC91;Q9NZM6-5	PK2L2_HUMAN;.;.	L	96;152;186;186;186;186	ENSP00000424885:P96L;ENSP00000344177:P152L;ENSP00000423382:P186L;ENSP00000425513:P186L;ENSP00000424725:P186L;ENSP00000290431:P186L	ENSP00000290431:P186L	P	+	2	0	PKD2L2	137263136	0.139000	0.22563	0.998000	0.56505	0.975000	0.68041	2.127000	0.42035	1.308000	0.44962	0.650000	0.86243	CCT		0.353	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386		36	51	0	0	0	0.005524	0	36	51				
GABRG2	2566	broad.mit.edu	37	5	161495054	161495054	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:161495054C>A	ENST00000361925.4	+	1	269	c.49C>A	c.(49-51)Cct>Act	p.P17T	GABRG2_ENST00000356592.3_Missense_Mutation_p.P17T|GABRG2_ENST00000414552.2_Missense_Mutation_p.P17T|GABRG2_ENST00000393933.4_De_novo_Start_InFrame			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	17					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.P17T(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	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)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTACTCGACTCCTGTATTTTC	0.463																																							uc003lyz.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(49-51)CCT>ACT		gamma-aminobutyric acid A receptor, gamma 2							93.0	87.0	89.0					5																	161495054		2203	4300	6503	SO:0001583	missense	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161495054C>A		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.49C>A	5.37:g.161495054C>A	ENSP00000354651:p.Pro17Thr					GABRG2_uc010jjc.2_Missense_Mutation_p.P17T|GABRG2_uc003lyy.3_Missense_Mutation_p.P17T|GABRG2_uc011dej.1_5'UTR	p.P17T	NM_000816	NP_000807	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	1	407	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	17					F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.49C>A	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.251482	0.39797	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925	T;T;T	0.79653	-1.29;-0.77;-1.29	5.08	5.08	0.68730	.	0.820267	0.11397	N	0.568217	T	0.72566	0.3476	L	0.38175	1.15	0.80722	D	1	B;B;B	0.32188	0.359;0.008;0.013	B;B;B	0.33042	0.157;0.011;0.025	T	0.67401	-0.5680	10	0.35671	T	0.21	.	9.5752	0.39454	0.0:0.9047:0.0:0.0953	.	17;17;17	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	T	17	ENSP00000349000:P17T;ENSP00000410732:P17T;ENSP00000354651:P17T	ENSP00000349000:P17T	P	+	1	0	GABRG2	161427632	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.129000	0.31381	2.365000	0.80145	0.491000	0.48974	CCT		0.463	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			22	35	1	0	1.55469e-16	0.00333	2.36506e-16	22	35				
TENM2	57451	broad.mit.edu	37	5	167645208	167645208	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:167645208C>T	ENST00000518659.1	+	23	4351	c.4312C>T	c.(4312-4314)Ctt>Ttt	p.L1438F	TENM2_ENST00000520394.1_Missense_Mutation_p.L1199F|TENM2_ENST00000403607.2_Missense_Mutation_p.L1262F|TENM2_ENST00000545108.1_Missense_Mutation_p.L1437F|TENM2_ENST00000519204.1_Missense_Mutation_p.L1317F	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1438					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.L1317F(2)|p.L1438F(2)|p.L1271F(2)									CAATGTCATCCTTCGAATCAC	0.498																																							uc010jjd.2		NA																	6	Substitution - Missense(6)		lung(6)	ovary(6)|central_nervous_system(4)	10						c.(4285-4287)CTT>TTT		odz, odd Oz/ten-m homolog 2							179.0	182.0	181.0					5																	167645208		2142	4260	6402	SO:0001583	missense	57451							g.chr5:167645208C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4312C>T	5.37:g.167645208C>T	ENSP00000429430:p.Leu1438Phe					ODZ2_uc003lzr.3_Missense_Mutation_p.L1199F|ODZ2_uc003lzt.3_Missense_Mutation_p.L802F|ODZ2_uc010jje.2_Missense_Mutation_p.L693F	p.L1429F	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	23	4285	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.4285C>T		.	.	.	.	.	.	.	.	.	.	C	17.96	3.515158	0.64634	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.91011	-2.29;-2.28;-2.39;-2.74;-2.77	5.8	4.93	0.64822	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.93687	0.7983	M	0.78916	2.43	0.52099	D	0.999942	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.999;0.994	D	0.92890	0.6330	10	0.62326	D	0.03	.	5.5498	0.17083	0.0:0.7382:0.0:0.2618	.	1437;1438;1199	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	F	1438;1437;1317;1199;1262	ENSP00000429430:L1438F;ENSP00000438635:L1437F;ENSP00000428964:L1317F;ENSP00000427874:L1199F;ENSP00000384905:L1262F	ENSP00000384905:L1262F	L	+	1	0	ODZ2	167577786	1.000000	0.71417	0.998000	0.56505	0.943000	0.58893	2.510000	0.45468	2.748000	0.94277	0.655000	0.94253	CTT		0.498	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		82	133	0	0	0	0.00361	0	82	133				
SLIT3	6586	broad.mit.edu	37	5	168096927	168096927	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:168096927C>A	ENST00000519560.1	-	35	4616	c.4197G>T	c.(4195-4197)ggG>ggT	p.G1399G	CTC-558O2.2_ENST00000520041.1_RNA|SLIT3_ENST00000404867.3_Silent_p.G1399G|SLIT3_ENST00000332966.8_Silent_p.G1406G	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1399	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.G1399G(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACACAAGTCCCCTCCATAGC	0.552																																					Ovarian(29;311 847 10864 17279 24903)	Ovarian(29;311 847 10864 17279 24903)	uc003mab.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(1)	4						c.(4195-4197)GGG>GGT		slit homolog 3 precursor							154.0	114.0	127.0					5																	168096927		2203	4300	6503	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168096927C>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.4197G>T	5.37:g.168096927C>A						SLIT3_uc010jjg.2_Silent_p.G1406G	p.G1399G	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		35	4617	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1399			EGF-like 8.		A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.4197G>T	CCDS4369.1																																																																																				0.552	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		18	40	1	0	6.94344e-10	0.006122	8.58938e-10	18	40				
ZNF354A	6940	broad.mit.edu	37	5	178139390	178139390	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:178139390T>A	ENST00000335815.2	-	5	1686	c.1489A>T	c.(1489-1491)Aac>Tac	p.N497Y		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	497					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|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.N497Y(2)		breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		CCACACTCGTTACATTTATAG	0.388																																							uc003mjj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1489-1491)AAC>TAC		zinc finger protein 354A							122.0	118.0	120.0					5																	178139390		2203	4300	6503	SO:0001583	missense	6940				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178139390T>A	AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"""Zinc fingers, C2H2-type"", ""-"""	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.1489A>T	5.37:g.178139390T>A	ENSP00000337122:p.Asn497Tyr						p.N497Y	NM_005649	NP_005640	O60765	Z354A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)	5	1687	-	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	497			C2H2-type 10.		Q9UNJ8	Missense_Mutation	SNP	ENST00000335815.2	37	c.1489A>T	CCDS4438.1	.	.	.	.	.	.	.	.	.	.	T	12.23	1.874589	0.33069	.	.	ENSG00000169131	ENST00000335815	T	0.07688	3.17	5.26	2.88	0.33553	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.224065	0.22598	N	0.058000	T	0.17450	0.0419	L	0.43152	1.355	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01795	-1.1272	10	0.66056	D	0.02	-11.2567	7.2719	0.26262	0.0:0.198:0.0:0.802	.	497	O60765	Z354A_HUMAN	Y	497	ENSP00000337122:N497Y	ENSP00000337122:N497Y	N	-	1	0	ZNF354A	178071996	0.000000	0.05858	0.047000	0.18901	0.759000	0.43091	-1.234000	0.02931	1.026000	0.39733	0.528000	0.53228	AAC		0.388	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	NM_005649		50	101	0	0	0	0.00361	0	50	101				
ADAMTS2	9509	broad.mit.edu	37	5	178564850	178564850	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:178564850T>G	ENST00000251582.7	-	12	1972	c.1871A>C	c.(1870-1872)gAg>gCg	p.E624A		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	624	Cys-rich.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E624A(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GCACTGCTCCTCGCGGAAGTC	0.701																																							uc003mjw.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1870-1872)GAG>GCG		ADAM metallopeptidase with thrombospondin type 1							17.0	17.0	17.0					5																	178564850		2175	4285	6460	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178564850T>G	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1871A>C	5.37:g.178564850T>G	ENSP00000251582:p.Glu624Ala						p.E624A	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	12	1871	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	624			Cys-rich.			Missense_Mutation	SNP	ENST00000251582.7	37	c.1871A>C	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	T	5.369	0.253330	0.10185	.	.	ENSG00000087116	ENST00000251582	T	0.70516	-0.49	5.62	4.45	0.53987	.	0.111656	0.39146	N	0.001454	T	0.52533	0.1740	N	0.05012	-0.13	0.80722	D	1	P	0.49862	0.929	P	0.46362	0.514	T	0.50415	-0.8831	10	0.20519	T	0.43	.	12.4614	0.55733	0.0:0.0:0.14:0.86	.	624	O95450	ATS2_HUMAN	A	624	ENSP00000251582:E624A	ENSP00000251582:E624A	E	-	2	0	ADAMTS2	178497456	1.000000	0.71417	0.985000	0.45067	0.939000	0.58152	1.857000	0.39399	1.052000	0.40392	-0.488000	0.04728	GAG		0.701	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		4	1	0	0	0	0.009096	0	4	1				
SCGN	10590	broad.mit.edu	37	6	25669751	25669751	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:25669751T>A	ENST00000377961.2	+	5	517	c.349T>A	c.(349-351)Tat>Aat	p.Y117N	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	117	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.Y117N(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TTGGCGCAAATATGACGCTGA	0.398																																							uc003nfb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(349-351)TAT>AAT		secretagogin precursor							163.0	159.0	160.0					6																	25669751		2203	4300	6503	SO:0001583	missense	10590					extracellular region|transport vesicle membrane	calcium ion binding	g.chr6:25669751T>A	BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"""EF-hand domain containing"""	16941	protein-coding gene	gene with protein product	"""calbindin-like"""	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.349T>A	6.37:g.25669751T>A	ENSP00000367197:p.Tyr117Asn					SCGN_uc010jpz.2_Missense_Mutation_p.N26K	p.Y117N	NM_006998	NP_008929	O76038	SEGN_HUMAN			5	552	+			117			EF-hand 3.		A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Missense_Mutation	SNP	ENST00000377961.2	37	c.349T>A	CCDS4561.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.013553	0.75161	.	.	ENSG00000079689	ENST00000377961	T	0.73047	-0.71	5.27	5.27	0.74061	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.84889	0.5572	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.88908	0.3357	10	0.87932	D	0	.	14.1662	0.65477	0.0:0.0:0.0:1.0	.	117	O76038	SEGN_HUMAN	N	117	ENSP00000367197:Y117N	ENSP00000367197:Y117N	Y	+	1	0	SCGN	25777730	1.000000	0.71417	0.986000	0.45419	0.952000	0.60782	5.868000	0.69605	1.986000	0.57962	0.460000	0.39030	TAT		0.398	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040067.1			31	92	0	0	0	0.002445	0	31	92				
PPP1R18	170954	broad.mit.edu	37	6	30652408	30652408	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:30652408C>G	ENST00000274853.3	-	1	3264	c.1388G>C	c.(1387-1389)gGg>gCg	p.G463A	PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_Missense_Mutation_p.G463A	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	463						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G463A(1)									GCGGGGGGCCCCCACCCCTGG	0.697																																							uc003nra.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1387-1389)GGG>GCG		phostensin							5.0	6.0	5.0					6																	30652408		1048	2322	3370	SO:0001583	missense	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30652408C>G	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29413	protein-coding gene	gene with protein product	"""protein phosphatase 1 F-actin cytoskeleton targeting subunit"""	610990	"""KIAA1949"""	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.1388G>C	6.37:g.30652408C>G	ENSP00000274853:p.Gly463Ala					KIAA1949_uc003nrb.3_Missense_Mutation_p.G463A	p.G463A	NM_001134870	NP_001128342	Q6NYC8	PHTNS_HUMAN			2	1619	-			463					A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	Missense_Mutation	SNP	ENST00000274853.3	37	c.1388G>C	CCDS43444.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984388	0.53934	.	.	ENSG00000146112	ENST00000274853;ENST00000399199	T;T	0.23754	1.89;1.89	4.35	4.35	0.52113	.	0.000000	0.64402	D	0.000003	T	0.21921	0.0528	L	0.41710	1.295	0.38494	D	0.948056	D	0.76494	0.999	D	0.91635	0.999	T	0.05402	-1.0887	10	0.02654	T	1	-20.5007	13.9241	0.63952	0.0:1.0:0.0:0.0	.	463	Q6NYC8	PPR18_HUMAN	A	463	ENSP00000274853:G463A;ENSP00000382150:G463A	ENSP00000274853:G463A	G	-	2	0	KIAA1949	30760387	0.978000	0.34361	1.000000	0.80357	0.638000	0.38207	3.761000	0.55242	2.260000	0.74910	0.655000	0.94253	GGG		0.697	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		3	6	0	0	0	0.000602	0	3	6				
MDC1	9656	broad.mit.edu	37	6	30680116	30680116	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:30680116T>C	ENST00000376406.3	-	5	2250	c.1603A>G	c.(1603-1605)Att>Gtt	p.I535V	MDC1_ENST00000494654.1_5'Flank|MDC1_ENST00000376405.2_Missense_Mutation_p.I535V|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	535	Required for nuclear localization (NLS1).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)	p.I535V(2)		breast(2)|kidney(1)|ovary(1)	4						ATATGTATAATGGCTGACCCT	0.502								Other conserved DNA damage response genes																															uc003nrg.3		NA																	2	Substitution - Missense(2)		lung(2)	breast(2)|ovary(1)|kidney(1)	4						c.(1603-1605)ATT>GTT	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1							93.0	92.0	92.0					6																	30680116		1510	2709	4219	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30680116T>C	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.1603A>G	6.37:g.30680116T>C	ENSP00000365588:p.Ile535Val					MDC1_uc003nrf.3_Missense_Mutation_p.I189V|MDC1_uc011dmp.1_Missense_Mutation_p.I407V|MDC1_uc003nrh.1_Missense_Mutation_p.I407V|MDC1_uc003nri.2_Missense_Mutation_p.I535V	p.I535V	NM_014641	NP_055456	Q14676	MDC1_HUMAN			5	2043	-			535			Required for nuclear localization (NLS1).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.1603A>G	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	T	0.347	-0.946929	0.02304	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.01933	4.61;4.55	4.85	-1.48	0.08745	.	1.092650	0.07385	N	0.888170	T	0.00210	0.0006	N	0.00841	-1.15	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.0	T	0.44498	-0.9324	10	0.02654	T	1	0.2266	4.2965	0.10904	0.1584:0.3729:0.0:0.4688	.	535;407;535;535	Q14676-2;B4DYH4;Q14676;Q14676-4	.;.;MDC1_HUMAN;.	V	535;535;535;407	ENSP00000365588:I535V;ENSP00000365587:I535V	ENSP00000365587:I535V	I	-	1	0	MDC1	30788095	0.003000	0.15002	0.001000	0.08648	0.005000	0.04900	0.306000	0.19279	-0.418000	0.07450	-0.379000	0.06801	ATT		0.502	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		19	122	0	0	0	0.007835	0	19	122				
SLC26A8	116369	broad.mit.edu	37	6	35980029	35980029	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:35980029G>A	ENST00000490799.1	-	3	662	c.309C>T	c.(307-309)ggC>ggT	p.G103G	SLC26A8_ENST00000355574.2_Silent_p.G103G|SLC26A8_ENST00000394602.2_Silent_p.G103G	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTTGCACAAGGCCAACACTTA	0.438																																							uc003olm.2		NA																	0				ovary(2)	2						c.(307-309)GGC>GGT		solute carrier family 26, member 8 isoform a							258.0	240.0	246.0					6																	35980029		2203	4300	6503	SO:0001819	synonymous_variant	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35980029G>A	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.309C>T	6.37:g.35980029G>A						SLC26A8_uc003oln.2_Silent_p.G103G|SLC26A8_uc003oll.2_Silent_p.G103G	p.G103G	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN			3	420	-			103			Helical; (Potential).			Silent	SNP	ENST00000490799.1	37	c.309C>T	CCDS4813.1																																																																																				0.438	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			7	263	0	0	0	0.001984	0	7	263				
DNAH8	1769	broad.mit.edu	37	6	38758175	38758175	+	Silent	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:38758175A>G	ENST00000359357.3	+	18	2378	c.2124A>G	c.(2122-2124)ttA>ttG	p.L708L	DNAH8_ENST00000449981.2_Silent_p.L925L|DNAH8_ENST00000441566.1_Silent_p.L708L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	708					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.L708L(4)		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						ATCAACTTTTAAAGAAGGTAT	0.313																																							uc003ooe.1		NA																	4	Substitution - coding silent(4)		lung(4)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(2122-2124)TTA>TTG		dynein, axonemal, heavy polypeptide 8							77.0	73.0	74.0					6																	38758175		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38758175A>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.2124A>G	6.37:g.38758175A>G							p.L708L	NM_001371	NP_001362					18	2724	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.2124A>G																																																																																					0.313	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		20	40	0	0	0	0.007413	0	20	40				
KCNK16	83795	broad.mit.edu	37	6	39290313	39290313	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:39290313G>T	ENST00000373229.5	-	1	17	c.4C>A	c.(4-6)Ccc>Acc	p.P2T	KCNK16_ENST00000437525.2_Missense_Mutation_p.P2T|KCNK16_ENST00000373227.4_Missense_Mutation_p.P2T|KCNK16_ENST00000507712.1_Intron|KCNK16_ENST00000425054.2_Missense_Mutation_p.P2T	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	2					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.P2T(2)		large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CCAGCACTGGGCATGCTGTGG	0.667																																							uc003ooq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(4-6)CCC>ACC		potassium channel, subfamily K, member 16							12.0	12.0	12.0					6																	39290313		2199	4295	6494	SO:0001583	missense	83795					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39290313G>T	AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.4C>A	6.37:g.39290313G>T	ENSP00000362326:p.Pro2Thr					KCNK16_uc003oor.3_Missense_Mutation_p.P2T|KCNK16_uc010jwy.2_Missense_Mutation_p.P2T|KCNK16_uc011dtz.1_Missense_Mutation_p.P2T	p.P2T	NM_032115	NP_115491	Q96T55	KCNKG_HUMAN			1	18	-			2			Cytoplasmic (Potential).		B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Missense_Mutation	SNP	ENST00000373229.5	37	c.4C>A	CCDS4843.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700158	0.48307	.	.	ENSG00000095981	ENST00000373229;ENST00000425054;ENST00000373227;ENST00000437525	T;T;T;T	0.17370	2.52;2.35;3.13;2.28	5.38	4.46	0.54185	.	0.399340	0.25104	N	0.033113	T	0.27098	0.0664	L	0.60455	1.87	0.37016	D	0.895986	D;D;D;D	0.71674	0.965;0.98;0.998;0.982	P;P;D;P	0.64776	0.656;0.762;0.929;0.781	T	0.01309	-1.1389	10	0.72032	D	0.01	.	14.8219	0.70080	0.0:0.1432:0.8568:0.0	.	2;2;2;2	B5TJL9;Q96T55-5;Q96T55-4;Q96T55	.;.;.;KCNKG_HUMAN	T	2	ENSP00000362326:P2T;ENSP00000391498:P2T;ENSP00000362324:P2T;ENSP00000415375:P2T	ENSP00000362324:P2T	P	-	1	0	KCNK16	39398291	.	.	0.998000	0.56505	0.098000	0.18820	.	.	2.685000	0.91497	0.561000	0.74099	CCC		0.667	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115		4	8	1	0	0.00909568	0.009096	0.00934471	4	8				
OARD1	221443	broad.mit.edu	37	6	41036604	41036604	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:41036604C>A	ENST00000479950.1	-	5	645	c.332G>T	c.(331-333)gGa>gTa	p.G111V	OARD1_ENST00000373154.2_Intron|OARD1_ENST00000486443.1_Missense_Mutation_p.G72V|OARD1_ENST00000424266.2_Missense_Mutation_p.G111V|OARD1_ENST00000244558.9_Intron|OARD1_ENST00000468811.1_Missense_Mutation_p.G111V|OARD1_ENST00000464633.1_Intron|OARD1_ENST00000463088.1_Missense_Mutation_p.G111V|OARD1_ENST00000482515.1_Intron|OARD1_ENST00000467234.1_5'Flank|OARD1_ENST00000480585.1_Intron			Q9Y530	OARD1_HUMAN	O-acyl-ADP-ribose deacylase 1	111	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				purine nucleoside metabolic process (GO:0042278)		deacetylase activity (GO:0019213)|purine nucleoside binding (GO:0001883)	p.G111V(2)|p.G111E(1)									GTCAGTGACTCCATTCTTCAG	0.408																																							uc003opm.2		NA																	3	Substitution - Missense(3)		lung(3)		0						c.(331-333)GGA>GTA		hypothetical protein LOC221443							112.0	108.0	109.0					6																	41036604		2203	4300	6503	SO:0001583	missense	221443							g.chr6:41036604C>A	AJ420538	CCDS34445.1	6p21.1	2013-03-14	2012-11-06	2012-11-06	ENSG00000124596	ENSG00000124596			21257	protein-coding gene	gene with protein product	"""terminal ADP-ribose protein glycohydrolase 1"""	614393	"""chromosome 6 open reading frame 130"""	C6orf130		21849506	Standard	NM_145063		Approved	MGC19570, dJ34B21.3, TARG1	uc003opm.3	Q9Y530	OTTHUMG00000014667	ENST00000479950.1:c.332G>T	6.37:g.41036604C>A	ENSP00000420484:p.Gly111Val					UNC5CL_uc010jxe.1_Intron|C6orf130_uc010jxg.2_Missense_Mutation_p.G111V|C6orf130_uc003opn.2_Intron	p.G111V	NM_145063	NP_659500	Q9Y530	CF130_HUMAN			5	504	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		111			Macro.		A6NEK4|A8K4H4|Q96F23	Missense_Mutation	SNP	ENST00000479950.1	37	c.332G>T	CCDS34445.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958169	0.92726	.	.	ENSG00000124596	ENST00000479950;ENST00000463088;ENST00000424266;ENST00000468811;ENST00000486443;ENST00000488238	T;T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78;1.78	6.08	6.08	0.98989	Appr-1-p processing (2);	0.000000	0.85682	D	0.000000	T	0.49643	0.1569	M	0.85542	2.76	0.80722	D	1	D	0.67145	0.996	D	0.68353	0.957	T	0.51356	-0.8716	10	0.59425	D	0.04	-21.8544	17.8194	0.88645	0.0:1.0:0.0:0.0	.	111	Q9Y530	CF130_HUMAN	V	111;111;111;111;72;111	ENSP00000420484:G111V;ENSP00000420193:G111V;ENSP00000416829:G111V;ENSP00000420601:G111V;ENSP00000419175:G72V;ENSP00000420414:G111V	ENSP00000416829:G111V	G	-	2	0	C6orf130	41144582	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.287000	0.65645	2.894000	0.99253	0.655000	0.94253	GGA		0.408	OARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040494.2	NM_145063		18	32	1	0	5.03518e-11	0.007413	6.56908e-11	18	32				
SLC22A7	10864	broad.mit.edu	37	6	43269342	43269342	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:43269342G>T	ENST00000372585.5	+	7	1068	c.973G>T	c.(973-975)Ggg>Tgg	p.G325W	SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372574.3_Missense_Mutation_p.G323W|SLC22A7_ENST00000372589.3_Missense_Mutation_p.G323W	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	325					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.G325W(2)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	AGTGGCCGCCGGGGAACGGGT	0.587																																							uc003out.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(973-975)GGG>TGG		solute carrier family 22 member 7 isoform b							72.0	57.0	62.0					6																	43269342		2203	4300	6503	SO:0001583	missense	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43269342G>T	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.973G>T	6.37:g.43269342G>T	ENSP00000361666:p.Gly325Trp					SLC22A7_uc010jyl.1_Missense_Mutation_p.G326W|SLC22A7_uc003ous.2_Missense_Mutation_p.G323W	p.G325W	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		7	1072	+			325					B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	c.973G>T	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939641	0.52972	.	.	ENSG00000137204	ENST00000372589;ENST00000372585;ENST00000372574;ENST00000436107	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	5.56	0.206	0.15208	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	3.939720	0.00357	N	0.000037	T	0.45216	0.1331	L	0.42245	1.32	0.09310	N	1	B;P;P	0.47253	0.43;0.695;0.892	P;P;P	0.55615	0.78;0.672;0.775	T	0.25984	-1.0116	10	0.66056	D	0.02	.	4.796	0.13272	0.3321:0.0:0.5295:0.1384	.	325;323;323	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	W	323;325;323;18	ENSP00000361670:G323W;ENSP00000361666:G325W;ENSP00000361655:G323W;ENSP00000393836:G18W	ENSP00000361655:G323W	G	+	1	0	SLC22A7	43377320	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.183000	0.09712	-0.265000	0.09352	0.462000	0.41574	GGG		0.587	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			13	48	1	0	4.14922e-12	0.004007	5.66652e-12	13	48				
TCTE1	202500	broad.mit.edu	37	6	44254167	44254167	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:44254167C>A	ENST00000371505.4	-	3	502	c.380G>T	c.(379-381)aGt>aTt	p.S127I	RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371503.3_5'UTR|TCTE1_ENST00000371504.1_5'Flank|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	127								p.S127I(2)		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)			GTAGTTCTCACTGTCTATCAG	0.607																																							uc003oxi.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(379-381)AGT>ATT		t-complex-associated testis expressed 1							111.0	108.0	109.0					6																	44254167		2203	4300	6503	SO:0001583	missense	202500							g.chr6:44254167C>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.380G>T	6.37:g.44254167C>A	ENSP00000360560:p.Ser127Ile					SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	p.S127I	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	536	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		127					B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	37	c.380G>T	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	T	8.557	0.876899	0.17395	.	.	ENSG00000146221	ENST00000371505	T	0.58652	0.32	4.95	3.78	0.43462	.	0.327680	0.34959	N	0.003559	T	0.21347	0.0514	N	0.14661	0.345	0.50632	D	0.999882	B	0.28971	0.229	B	0.25759	0.063	T	0.08046	-1.0741	10	0.72032	D	0.01	-7.1822	9.7727	0.40601	0.0:0.131:0.0:0.869	.	127	Q5JU00	TCTE1_HUMAN	I	127	ENSP00000360560:S127I	ENSP00000360560:S127I	S	-	2	0	TCTE1	44362145	0.905000	0.30787	0.001000	0.08648	0.111000	0.19643	4.890000	0.63178	0.237000	0.21200	-1.379000	0.01178	AGT		0.607	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		17	181	1	0	3.62473e-10	0.001882	4.51944e-10	17	181				
SPATS1	221409	broad.mit.edu	37	6	44337843	44337843	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:44337843A>G	ENST00000288390.2	+	6	1098	c.751A>G	c.(751-753)Att>Gtt	p.I251V	RP11-444E17.6_ENST00000505802.1_3'UTR|SPATS1_ENST00000323108.8_Missense_Mutation_p.I251V			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	251								p.I251V(4)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCTTCCACAAATTCCCAAGTG	0.343																																							uc003oxk.2		NA																	4	Substitution - Missense(4)		lung(4)	skin(1)	1						c.(751-753)ATT>GTT		spermatogenesis associated, serine-rich 1							175.0	169.0	171.0					6																	44337843		2202	4299	6501	SO:0001583	missense	221409							g.chr6:44337843A>G	AK058171	CCDS4911.1	6p21.1	2003-08-08			ENSG00000249481	ENSG00000249481			22957	protein-coding gene	gene with protein product							Standard	NM_145026		Approved	SPATA8, FLJ25442, SRSP1	uc021yzz.1	Q496A3	OTTHUMG00000014764	ENST00000288390.2:c.751A>G	6.37:g.44337843A>G	ENSP00000424400:p.Ile251Val					SPATS1_uc003oxg.2_RNA|SPATS1_uc010jzb.2_Missense_Mutation_p.I136V	p.I251V	NM_145026	NP_659463	Q496A3	SPAS1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		6	1098	+	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		251					Q496A2|Q496A5|Q96LJ0	Missense_Mutation	SNP	ENST00000288390.2	37	c.751A>G	CCDS4911.1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.676459	0.29783	.	.	ENSG00000249481	ENST00000323108;ENST00000288390	T;T	0.45276	0.9;0.9	5.62	-1.3	0.09259	.	0.345576	0.24823	N	0.035302	T	0.11067	0.0270	L	0.45581	1.43	0.24276	N	0.99523	B	0.10296	0.003	B	0.12156	0.007	T	0.29488	-1.0010	10	0.23302	T	0.38	.	4.5517	0.12116	0.3549:0.0:0.4508:0.1942	.	251	Q496A3	SPAS1_HUMAN	V	251	ENSP00000437552:I251V;ENSP00000424400:I251V	ENSP00000424400:I251V	I	+	1	0	SPATS1	44445821	0.052000	0.20516	0.989000	0.46669	0.995000	0.86356	0.247000	0.18179	-0.151000	0.11176	0.533000	0.62120	ATT		0.343	SPATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040738.2	NM_145026		29	113	0	0	0	0.007291	0	29	113				
GPR111	222611	broad.mit.edu	37	6	47646847	47646847	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:47646847C>A	ENST00000296862.1	+	4	448	c.448C>A	c.(448-450)Ctt>Att	p.L150I	GPR111_ENST00000398742.2_Missense_Mutation_p.L82I|GPR111_ENST00000507065.1_Missense_Mutation_p.L82I			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	150					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.L150I(2)|p.L82I(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CTGCCAGACTCTTAATGCCCT	0.458																																							uc010jzj.1		NA																	4	Substitution - Missense(4)		lung(4)	skin(1)	1						c.(448-450)CTT>ATT		G-protein coupled receptor 111							121.0	115.0	117.0					6																	47646847		1981	4166	6147	SO:0001583	missense	222611				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47646847C>A	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.448C>A	6.37:g.47646847C>A	ENSP00000296862:p.Leu150Ile					GPR111_uc010jzk.1_Missense_Mutation_p.L82I|GPR111_uc003oyy.2_RNA	p.L150I	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN			4	449	+			150			Extracellular (Potential).		Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	ENST00000296862.1	37	c.448C>A		.	.	.	.	.	.	.	.	.	.	C	15.29	2.789031	0.49997	.	.	ENSG00000164393	ENST00000507065;ENST00000296862;ENST00000398742	T;T;T	0.46819	1.62;1.57;0.86	4.69	4.69	0.59074	.	0.157310	0.29328	N	0.012467	T	0.43612	0.1255	L	0.34521	1.04	0.20074	N	0.999939	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.992	T	0.23547	-1.0185	10	0.26408	T	0.33	.	14.9092	0.70743	0.0:1.0:0.0:0.0	.	82;150	Q8IZF7-2;Q8IZF7	.;GP111_HUMAN	I	82;150;82	ENSP00000422934:L82I;ENSP00000296862:L150I;ENSP00000381727:L82I	ENSP00000296862:L150I	L	+	1	0	GPR111	47754806	0.973000	0.33851	0.181000	0.23098	0.458000	0.32498	3.852000	0.55934	2.609000	0.88269	0.644000	0.83932	CTT		0.458	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		11	95	1	0	0.000978159	0.000978	0.00103323	11	95				
OPN5	221391	broad.mit.edu	37	6	47759675	47759675	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:47759675G>T	ENST00000371211.2	+	3	416	c.388G>T	c.(388-390)Gat>Tat	p.D130Y	OPN5_ENST00000489301.2_Missense_Mutation_p.D130Y|OPN5_ENST00000393699.2_Missense_Mutation_p.D130Y|OPN5_ENST00000244799.4_3'UTR	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	130					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.D130Y(2)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TGTCAGCCTGGATCGATATTT	0.463																																					Melanoma(28;740 973 10870 42660 45347)	Melanoma(28;740 973 10870 42660 45347)	uc003ozc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(388-390)GAT>TAT		opsin 5 isoform 1							143.0	122.0	129.0					6																	47759675		2203	4300	6503	SO:0001583	missense	221391				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr6:47759675G>T	AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"""GPCR / Class A : Opsin receptors"""	19992	protein-coding gene	gene with protein product	"""neuropsin"""	609042	"""transmembrane protein 13"""	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.388G>T	6.37:g.47759675G>T	ENSP00000360255:p.Asp130Tyr					OPN5_uc003ozd.2_5'UTR	p.D130Y	NM_181744	NP_859528	Q6U736	OPN5_HUMAN			3	393	+			130			Cytoplasmic (Potential).		A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Missense_Mutation	SNP	ENST00000371211.2	37	c.388G>T	CCDS4923.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194902	0.78902	.	.	ENSG00000124818	ENST00000489301;ENST00000371211;ENST00000393699	D;D;D	0.85861	-2.04;-2.04;-2.04	5.31	5.31	0.75309	GPCR, rhodopsin-like superfamily (1);	0.087334	0.85682	D	0.000000	D	0.88336	0.6409	M	0.84219	2.685	0.58432	D	0.999999	B	0.33044	0.395	B	0.43990	0.438	D	0.89438	0.3721	10	0.87932	D	0	.	18.9494	0.92636	0.0:0.0:1.0:0.0	.	130	Q6U736	OPN5_HUMAN	Y	130	ENSP00000426991:D130Y;ENSP00000360255:D130Y;ENSP00000377302:D130Y	ENSP00000360255:D130Y	D	+	1	0	OPN5	47867634	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.310000	0.96267	2.480000	0.83734	0.591000	0.81541	GAT		0.463	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	NM_181744		25	52	1	0	2.21704e-12	0.00278	3.07575e-12	25	52				
CRISP1	167	broad.mit.edu	37	6	49806202	49806202	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:49806202C>G	ENST00000335847.4	-	7	671	c.570G>C	c.(568-570)aaG>aaC	p.K190N	CRISP1_ENST00000329411.5_Intron|CRISP1_ENST00000507853.1_Intron|CRISP1_ENST00000505118.1_Missense_Mutation_p.K190N|CRISP1_ENST00000536021.1_Intron|CRISP1_ENST00000355791.2_Missense_Mutation_p.K190N	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	190					binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)	p.K190N(2)		endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					GGACGCCTGTCTTATAAGGTT	0.358																																							uc003ozw.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(568-570)AAG>AAC		acidic epididymal glycoprotein-like 1 isoform 1							172.0	165.0	167.0					6																	49806202		2203	4300	6503	SO:0001583	missense	167				fusion of sperm to egg plasma membrane	extracellular space		g.chr6:49806202C>G	D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812			304	protein-coding gene	gene with protein product		601193	"""acidic epididymal glycoprotein-like 1"""	AEGL1		8838800	Standard	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.570G>C	6.37:g.49806202C>G	ENSP00000338276:p.Lys190Asn					CRISP1_uc003ozx.2_Intron	p.K190N	NM_001131	NP_001122	P54107	CRIS1_HUMAN			7	649	-	Lung NSC(77;0.0358)		190					B5BU98|O00698|Q13248|Q14082|Q96SF6	Missense_Mutation	SNP	ENST00000335847.4	37	c.570G>C	CCDS4931.1	.	.	.	.	.	.	.	.	.	.	C	8.623	0.891784	0.17613	.	.	ENSG00000124812	ENST00000335847;ENST00000355791;ENST00000505118	T;T;T	0.11930	2.73;2.73;2.73	4.85	-3.92	0.04155	CAP domain (2);	0.364435	0.29579	N	0.011743	T	0.01800	0.0057	L	0.38531	1.155	0.23221	N	0.998099	B	0.22851	0.076	B	0.19148	0.024	T	0.43376	-0.9395	9	.	.	.	.	0.6939	0.00896	0.1581:0.3015:0.2181:0.3223	.	190	P54107	CRIS1_HUMAN	N	190	ENSP00000338276:K190N;ENSP00000348044:K190N;ENSP00000427589:K190N	.	K	-	3	2	CRISP1	49914161	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	-0.759000	0.04761	-0.961000	0.03609	0.650000	0.86243	AAG		0.358	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040875.2	NM_001131		9	130	0	0	0	0.008291	0	9	130				
TINAG	27283	broad.mit.edu	37	6	54214562	54214562	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:54214562C>A	ENST00000259782.4	+	7	1044	c.948C>A	c.(946-948)acC>acA	p.T316T		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	316					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.T316T(2)		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)			AAAATGCTACCAACAATGGAT	0.443																																							uc003pcj.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(1)	4						c.(946-948)ACC>ACA		tubulointerstitial nephritis antigen							152.0	141.0	145.0					6																	54214562		2203	4300	6503	SO:0001819	synonymous_variant	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54214562C>A	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.948C>A	6.37:g.54214562C>A						TINAG_uc010jzt.2_RNA	p.T316T	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		7	1094	+	Lung NSC(77;0.0518)		316					Q5T467|Q9UJW1|Q9ULZ4	Silent	SNP	ENST00000259782.4	37	c.948C>A	CCDS4955.1																																																																																				0.443	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		47	141	1	0	1.89013e-27	0.00361	3.43977e-27	47	141				
GFRAL	389400	broad.mit.edu	37	6	55216293	55216293	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:55216293C>A	ENST00000340465.2	+	5	699	c.613C>A	c.(613-615)Ctt>Att	p.L205I		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	205					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L205I(2)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CAAAGAAGCTCTTCACAGCAA	0.428																																							uc003pcm.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(613-615)CTT>ATT		GDNF family receptor alpha like precursor							128.0	125.0	126.0					6																	55216293		2203	4300	6503	SO:0001583	missense	389400					integral to membrane	receptor activity	g.chr6:55216293C>A	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.613C>A	6.37:g.55216293C>A	ENSP00000343636:p.Leu205Ile						p.L205I	NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		5	699	+	Lung NSC(77;0.0875)|Renal(3;0.122)		205			Extracellular (Potential).		Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	c.613C>A	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340300	0.81911	.	.	ENSG00000187871	ENST00000340465	T	0.64618	-0.11	6.05	6.05	0.98169	GDNF/GAS1 (2);	0.000000	0.85682	D	0.000000	T	0.64649	0.2617	N	0.20986	0.625	0.44373	D	0.997273	D	0.71674	0.998	D	0.72625	0.978	T	0.66118	-0.6003	10	0.52906	T	0.07	-14.8159	20.6087	0.99469	0.0:1.0:0.0:0.0	.	205	Q6UXV0	GFRAL_HUMAN	I	205	ENSP00000343636:L205I	ENSP00000343636:L205I	L	+	1	0	GFRAL	55324252	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.631000	0.67812	2.866000	0.98385	0.650000	0.86243	CTT		0.428	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		47	104	1	0	7.88023e-25	0.00361	1.38608e-24	47	104				
EYS	346007	broad.mit.edu	37	6	66053948	66053948	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:66053948G>T	ENST00000370621.3	-	10	2108	c.1582C>A	c.(1582-1584)Cat>Aat	p.H528N	EYS_ENST00000503581.1_Missense_Mutation_p.H528N|EYS_ENST00000370618.3_Missense_Mutation_p.H528N|EYS_ENST00000393380.2_Missense_Mutation_p.H528N|EYS_ENST00000370616.2_Missense_Mutation_p.H528N|EYS_ENST00000342421.5_Missense_Mutation_p.H528N			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	528					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)	p.H528N(4)		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						GTGCCTTCATGTGGGAACCAA	0.353																																							uc011dxu.1		NA																	4	Substitution - Missense(4)		lung(4)	lung(4)|ovary(1)|skin(1)	6						c.(1582-1584)CAT>AAT		eyes shut homolog isoform 1							97.0	97.0	97.0					6																	66053948		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66053948G>T		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.1582C>A	6.37:g.66053948G>T	ENSP00000359655:p.His528Asn					EYS_uc003peq.2_Missense_Mutation_p.H528N|EYS_uc003per.1_Missense_Mutation_p.H528N	p.H528N	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN			10	2120	-			528					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.1582C>A		.	.	.	.	.	.	.	.	.	.	g	2.728	-0.265060	0.05754	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39	4.1	-1.78	0.07957	.	.	.	.	.	T	0.33962	0.0881	N	0.08118	0	0.09310	N	1	B;B;B	0.18863	0.031;0.015;0.004	B;B;B	0.16722	0.012;0.016;0.004	T	0.21999	-1.0229	9	0.26408	T	0.33	.	4.2763	0.10811	0.4633:0.1799:0.3568:0.0	.	528;528;528	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	N	528	ENSP00000424243:H528N;ENSP00000359655:H528N;ENSP00000359650:H528N;ENSP00000377042:H528N;ENSP00000341818:H528N;ENSP00000359652:H528N	ENSP00000341818:H528N	H	-	1	0	EYS	66110669	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	0.764000	0.26532	-0.280000	0.09154	-0.324000	0.08512	CAT		0.353	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		22	86	1	0	1.55795e-14	0.001882	2.26924e-14	22	86				
BAI3	577	broad.mit.edu	37	6	69759227	69759227	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:69759227G>T	ENST00000370598.1	+	15	3143	c.2322G>T	c.(2320-2322)ttG>ttT	p.L774F		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	774					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L774F(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATCTAATTTTGCCCACTTTGA	0.289																																							uc003pev.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(2320-2322)TTG>TTT		brain-specific angiogenesis inhibitor 3							64.0	65.0	64.0					6																	69759227		2202	4296	6498	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69759227G>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2322G>T	6.37:g.69759227G>T	ENSP00000359630:p.Leu774Phe					BAI3_uc010kak.2_Missense_Mutation_p.L774F	p.L774F	NM_001704	NP_001695	O60242	BAI3_HUMAN			15	2770	+		all_lung(197;0.212)	774			Extracellular (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.2322G>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.314687	0.60524	.	.	ENSG00000135298	ENST00000370598	T	0.46451	0.87	5.28	4.41	0.53225	Domain of unknown function DUF3497 (1);	0.000000	0.64402	D	0.000003	T	0.49541	0.1563	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.56135	-0.8029	10	0.87932	D	0	.	11.2144	0.48817	0.1477:0.0:0.8523:0.0	.	774	O60242	BAI3_HUMAN	F	774	ENSP00000359630:L774F	ENSP00000359630:L774F	L	+	3	2	BAI3	69815948	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.818000	0.39012	1.345000	0.45676	0.655000	0.94253	TTG		0.289	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			6	52	1	0	0.00116845	0.001168	0.00122601	6	52				
COL12A1	1303	broad.mit.edu	37	6	75828759	75828759	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:75828759C>A	ENST00000322507.8	-	46	7663	c.7354G>T	c.(7354-7356)Ggg>Tgg	p.G2452W	COL12A1_ENST00000416123.2_Splice_Site_p.G2452W|COL12A1_ENST00000483888.2_Splice_Site_p.G2452W|COL12A1_ENST00000345356.6_Splice_Site_p.G1288W	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2452	Nonhelical region (NC3).|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.G2452W(2)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ATGTGCTTGCCTGACTGCTGG	0.423																																							uc003phs.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(7354-7356)GGG>TGG		collagen, type XII, alpha 1 long isoform							111.0	109.0	109.0					6																	75828759		1970	4172	6142	SO:0001630	splice_region_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75828759C>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.7354+1G>T	6.37:g.75828759C>A						COL12A1_uc003pht.2_Missense_Mutation_p.G1288W	p.G2452W	NM_004370	NP_004361	Q99715	COCA1_HUMAN			46	7520	-			2452			Nonhelical region (NC3).|VWFA 4.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.7354G>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364013	0.61513	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888;ENST00000493109	D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	5.78	4.92	0.64577	von Willebrand factor, type A (3);	0.052307	0.85682	N	0.000000	D	0.94105	0.8110	H	0.98721	4.31	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96388	0.9287	9	.	.	.	.	14.8132	0.70010	0.0:0.9311:0.0:0.0689	.	1288;2452	Q99715-2;Q99715	.;COCA1_HUMAN	W	2452;90;2452;1288;2452;2452;6	ENSP00000325146:G2452W;ENSP00000399812:G90W;ENSP00000305147:G1288W;ENSP00000412864:G2452W;ENSP00000421216:G2452W;ENSP00000423423:G6W	.	G	-	1	0	COL12A1	75885479	1.000000	0.71417	1.000000	0.80357	0.380000	0.30137	7.757000	0.85209	1.451000	0.47736	0.650000	0.86243	GGG		0.423	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	Missense_Mutation	16	92	1	0	9.16793e-09	0.00499	1.0946e-08	16	92				
COL12A1	1303	broad.mit.edu	37	6	75893229	75893229	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:75893229C>A	ENST00000322507.8	-	10	1737	c.1428G>T	c.(1426-1428)agG>agT	p.R476S	COL12A1_ENST00000416123.2_Missense_Mutation_p.R476S|COL12A1_ENST00000483888.2_Missense_Mutation_p.R476S|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	476	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.R476S(2)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TAATCTGGACCCTATTTGGTG	0.353																																							uc003phs.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(1426-1428)AGG>AGT		collagen, type XII, alpha 1 long isoform							67.0	65.0	65.0					6																	75893229		1817	4078	5895	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75893229C>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.1428G>T	6.37:g.75893229C>A	ENSP00000325146:p.Arg476Ser					COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_Missense_Mutation_p.R134S	p.R476S	NM_004370	NP_004361	Q99715	COCA1_HUMAN			10	1594	-			476			VWFA 2.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.1428G>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068768	0.36470	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.77750	-1.12;-1.12;-1.12	5.49	0.706	0.18133	von Willebrand factor, type A (3);	0.073236	0.64402	D	0.000020	T	0.34832	0.0911	N	0.05608	-0.01	0.32512	N	0.537386	P;P	0.38280	0.625;0.625	B;B	0.31946	0.138;0.138	T	0.16424	-1.0403	10	0.52906	T	0.07	.	9.7816	0.40651	0.0:0.4057:0.0:0.5943	.	476;476	D6RGG3;Q99715	.;COCA1_HUMAN	S	476	ENSP00000325146:R476S;ENSP00000412864:R476S;ENSP00000421216:R476S	ENSP00000325146:R476S	R	-	3	2	COL12A1	75949949	0.999000	0.42202	0.995000	0.50966	0.981000	0.71138	0.637000	0.24659	-0.091000	0.12440	-0.136000	0.14681	AGG		0.353	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		35	101	1	0	5.90632e-09	0.002445	7.12739e-09	35	101				
COL12A1	1303	broad.mit.edu	37	6	75899098	75899098	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:75899098C>A	ENST00000322507.8	-	7	968		c.e7-1		COL12A1_ENST00000416123.2_Splice_Site|COL12A1_ENST00000483888.2_Splice_Site|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1						cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.?(2)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ATGGCATCCCCTAAAGGGAAA	0.328																																							uc003phs.2		NA																	2	Unknown(2)		lung(2)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.e7-1		collagen, type XII, alpha 1 long isoform							47.0	44.0	45.0					6																	75899098		1826	4074	5900	SO:0001630	splice_region_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75899098C>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.659-1G>T	6.37:g.75899098C>A						COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_5'Flank	p.G220_splice	NM_004370	NP_004361	Q99715	COCA1_HUMAN			7	825	-								O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Splice_Site	SNP	ENST00000322507.8	37	c.659_splice	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265107	0.59431	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	.	.	.	5.64	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5536	0.68084	0.0:0.9297:0.0:0.0702	.	.	.	.	.	-1	.	.	.	-	.	.	COL12A1	75955818	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	1.391000	0.46566	0.655000	0.94253	.		0.328	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	Intron	20	53	1	0	8.10497e-08	0.010504	9.40607e-08	20	53				
FILIP1	27145	broad.mit.edu	37	6	76023009	76023009	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:76023009C>A	ENST00000237172.7	-	5	2869	c.2539G>T	c.(2539-2541)Gtg>Ttg	p.V847L	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.V748L|FILIP1_ENST00000393004.2_Missense_Mutation_p.V847L	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	847								p.V847L(2)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GATCTTTCCACGGGTTTCTTC	0.453																																							uc003pia.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(2539-2541)GTG>TTG		filamin A interacting protein 1							118.0	130.0	126.0					6																	76023009		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76023009C>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2539G>T	6.37:g.76023009C>A	ENSP00000237172:p.Val847Leu					FILIP1_uc003phy.1_Missense_Mutation_p.V847L|FILIP1_uc003phz.2_Missense_Mutation_p.V748L|FILIP1_uc010kbe.2_Missense_Mutation_p.V850L|FILIP1_uc003pib.1_Missense_Mutation_p.V599L	p.V847L	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN			5	2912	-			847					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2539G>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.976303	0.00452	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.16743	2.32;2.32;2.32	5.66	-3.43	0.04810	.	0.404693	0.28327	N	0.015743	T	0.01765	0.0056	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.42224	-0.9464	10	0.28530	T	0.3	-1.5411	6.3971	0.21618	0.0:0.251:0.3312:0.4177	.	847;847;847	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	L	847;847;748	ENSP00000376728:V847L;ENSP00000237172:V847L;ENSP00000359037:V748L	ENSP00000237172:V847L	V	-	1	0	FILIP1	76079729	0.000000	0.05858	0.008000	0.14137	0.383000	0.30230	-0.107000	0.10873	-0.446000	0.07149	-0.414000	0.06135	GTG		0.453	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		81	252	1	0	6.44082e-31	0.00361	1.22298e-30	81	252				
ASCC3	10973	broad.mit.edu	37	6	101095256	101095256	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:101095256C>A	ENST00000369162.2	-	21	3668	c.3324G>T	c.(3322-3324)agG>agT	p.R1108S		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1108	SEC63 1.				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.R1108S(2)		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)		GATTCAGGAGCCTGTAGGTCA	0.428																																							uc003pqk.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(1)	6						c.(3322-3324)AGG>AGT		activating signal cointegrator 1 complex subunit							102.0	100.0	101.0					6																	101095256		2203	4300	6503	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.chr6:101095256C>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.3324G>T	6.37:g.101095256C>A	ENSP00000358159:p.Arg1108Ser					ASCC3_uc011eai.1_Missense_Mutation_p.R1010S	p.R1108S	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)	21	3653	-		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)	1108			SEC63 1.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.3324G>T	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.501248	0.26861	.	.	ENSG00000112249	ENST00000369162	T	0.60424	0.19	5.83	-2.81	0.05805	Sec63 domain (3);	0.116985	0.64402	D	0.000015	T	0.25754	0.0627	L	0.55481	1.735	0.80722	D	1	B	0.26318	0.146	B	0.32289	0.143	T	0.20638	-1.0269	10	0.11182	T	0.66	.	8.5902	0.33682	0.0:0.431:0.096:0.473	.	1108	Q8N3C0	HELC1_HUMAN	S	1108	ENSP00000358159:R1108S	ENSP00000358159:R1108S	R	-	3	2	ASCC3	101201977	0.844000	0.29557	0.926000	0.36857	0.966000	0.64601	-0.190000	0.09615	-0.594000	0.05836	-0.768000	0.03414	AGG		0.428	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		42	49	1	0	1.15505e-17	0.009718	1.82036e-17	42	49				
SLC22A16	85413	broad.mit.edu	37	6	110757068	110757068	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:110757068G>T	ENST00000368919.3	-	6	1474	c.1408C>A	c.(1408-1410)Cca>Aca	p.P470T	SLC22A16_ENST00000439654.1_Missense_Mutation_p.P470T|SLC22A16_ENST00000330550.4_Missense_Mutation_p.P436T	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	470					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)	p.P470T(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	ACAATGGTTGGATACAGCTCA	0.373																																							uc003puf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1408-1410)CCA>ACA		solute carrier family 22, member 16							99.0	95.0	96.0					6																	110757068		2203	4300	6503	SO:0001583	missense	85413				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	g.chr6:110757068G>T		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.1408C>A	6.37:g.110757068G>T	ENSP00000357915:p.Pro470Thr					SLC22A16_uc003pue.2_Missense_Mutation_p.P451T	p.P470T	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	6	1475	-		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)	470					O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	c.1408C>A	CCDS5084.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.786908	0.70337	.	.	ENSG00000004809	ENST00000368919;ENST00000451557;ENST00000330550;ENST00000439654	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	4.73	3.86	0.44501	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.96534	0.8869	H	0.97265	3.97	0.80722	D	1	D;D	0.61080	0.978;0.989	P;P	0.61201	0.885;0.817	D	0.97368	0.9974	10	0.87932	D	0	.	13.1615	0.59547	0.0779:0.0:0.922:0.0	.	470;436	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	T	470;387;436;470	ENSP00000357915:P470T;ENSP00000395642:P387T;ENSP00000328583:P436T;ENSP00000408799:P470T	ENSP00000328583:P436T	P	-	1	0	SLC22A16	110863761	1.000000	0.71417	0.997000	0.53966	0.933000	0.57130	8.750000	0.91623	1.215000	0.43411	0.478000	0.44815	CCA		0.373	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		21	77	1	0	4.54149e-19	0.002299	7.27376e-19	21	77				
GPRC6A	222545	broad.mit.edu	37	6	117128061	117128061	+	Silent	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:117128061G>C	ENST00000310357.3	-	3	828	c.807C>G	c.(805-807)gcC>gcG	p.A269A	GPRC6A_ENST00000368549.3_Silent_p.A269A|GPRC6A_ENST00000530250.1_Silent_p.A269A	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	269					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.A269A(2)		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)		CATTAACCTGGGCTTCTAAAA	0.363																																							uc003pxj.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)	6						c.(805-807)GCC>GCG		G protein-coupled receptor, family C, group 6,							80.0	85.0	83.0					6																	117128061		2203	4299	6502	SO:0001819	synonymous_variant	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117128061G>C	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.807C>G	6.37:g.117128061G>C						GPRC6A_uc003pxk.1_Silent_p.A269A|GPRC6A_uc003pxl.1_Silent_p.A269A	p.A269A	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)	3	829	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	269			Extracellular (Potential).		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Silent	SNP	ENST00000310357.3	37	c.807C>G	CCDS5112.1																																																																																				0.363	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			34	68	0	0	0	0.002445	0	34	68				
GJA1	2697	broad.mit.edu	37	6	121768935	121768935	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:121768935T>G	ENST00000282561.3	+	2	1099	c.942T>G	c.(940-942)agT>agG	p.S314R		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	314					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)	p.S314R(2)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CTAATTACAGTGCAGAACAAA	0.458																																							uc003pyr.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(940-942)AGT>AGG		connexin 43	Carvedilol(DB01136)						74.0	76.0	75.0					6																	121768935		2203	4299	6502	SO:0001583	missense	2697				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	g.chr6:121768935T>G	BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	4274	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.942T>G	6.37:g.121768935T>G	ENSP00000282561:p.Ser314Arg					GJA1_uc011ebo.1_Missense_Mutation_p.S215R|GJA1_uc011ebp.1_Missense_Mutation_p.S102R	p.S314R	NM_000165	NP_000156	P17302	CXA1_HUMAN		GBM - Glioblastoma multiforme(226;0.00252)	2	1192	+			314			Cytoplasmic (Potential).		B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	ENST00000282561.3	37	c.942T>G	CCDS5123.1	.	.	.	.	.	.	.	.	.	.	T	11.65	1.702210	0.30232	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	D	0.83837	-1.77	4.88	-5.73	0.02398	.	0.127787	0.52532	D	0.000063	T	0.73721	0.3623	L	0.27053	0.805	0.48341	D	0.999632	D	0.61697	0.99	D	0.74674	0.984	T	0.78137	-0.2321	10	0.32370	T	0.25	.	13.5116	0.61515	0.0:0.531:0.0:0.469	.	314	P17302	CXA1_HUMAN	R	298;314	ENSP00000282561:S314R	ENSP00000282561:S314R	S	+	3	2	GJA1	121810634	0.015000	0.18098	0.890000	0.34922	0.377000	0.30045	-1.069000	0.03444	-1.244000	0.02516	-0.472000	0.04984	AGT		0.458	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165		38	105	0	0	0	0.007835	0	38	105				
LAMA2	3908	broad.mit.edu	37	6	129470172	129470172	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:129470172C>A	ENST00000421865.2	+	7	1007	c.958C>A	c.(958-960)Cag>Aag	p.Q320K		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	320	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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.Q320K(2)		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)		TAGCTGTGATCAGTGCTGTCC	0.408																																							uc003qbn.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|breast(1)|skin(1)	10						c.(958-960)CAG>AAG		laminin alpha 2 subunit isoform a precursor							126.0	125.0	125.0					6																	129470172		2203	4299	6502	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.chr6:129470172C>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.958C>A	6.37:g.129470172C>A	ENSP00000400365:p.Gln320Lys					LAMA2_uc003qbo.2_Missense_Mutation_p.Q320K	p.Q320K	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	7	1063	+			320			Laminin EGF-like 1.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.958C>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.847845	0.51164	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.62788	-0.0	5.92	5.03	0.67393	EGF-like, laminin (4);	0.331800	0.29940	N	0.010820	T	0.23727	0.0574	N	0.05414	-0.055	0.28283	N	0.923884	B;B	0.21688	0.059;0.042	B;B	0.24701	0.032;0.055	T	0.11641	-1.0579	10	0.18710	T	0.47	.	16.0544	0.80788	0.139:0.8609:0.0:0.0	.	320;320	A6NF00;P24043	.;LAMA2_HUMAN	K	320	ENSP00000400365:Q320K	ENSP00000346769:Q320K	Q	+	1	0	LAMA2	129511865	0.254000	0.23992	0.992000	0.48379	0.990000	0.78478	2.447000	0.44917	1.450000	0.47717	0.655000	0.94253	CAG		0.408	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			41	128	1	0	1.47197e-15	0.007835	2.20097e-15	41	128				
MOXD1	26002	broad.mit.edu	37	6	132693794	132693794	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:132693794G>T	ENST00000367963.3	-	4	734	c.616C>A	c.(616-618)Caa>Aaa	p.Q206K	MOXD1_ENST00000336749.3_Missense_Mutation_p.Q138K	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	206						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|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)	p.Q206K(2)|p.Q138K(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TTAAACATTTGGCACCAATAT	0.348																																							uc003qdf.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(616-618)CAA>AAA		monooxygenase, DBH-like 1 isoform 2							97.0	96.0	96.0					6																	132693794		2203	4299	6502	SO:0001583	missense	26002				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	g.chr6:132693794G>T	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.616C>A	6.37:g.132693794G>T	ENSP00000356940:p.Gln206Lys					MOXD1_uc003qde.2_Missense_Mutation_p.Q138K	p.Q206K	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	4	715	-	Breast(56;0.0495)		206			Lumenal (Potential).		Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	ENST00000367963.3	37	c.616C>A	CCDS5152.2	.	.	.	.	.	.	.	.	.	.	G	12.51	1.958929	0.34565	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.31769	1.48;1.48	5.08	5.08	0.68730	Copper type II, ascorbate-dependent monooxygenase, N-terminal (2);PHM/PNGase F domain (1);	0.137887	0.49305	D	0.000158	T	0.07773	0.0195	N	0.13272	0.32	0.80722	D	1	B;B	0.28933	0.005;0.228	B;B	0.27796	0.013;0.083	T	0.08006	-1.0743	10	0.02654	T	1	-27.1196	18.4615	0.90739	0.0:0.0:1.0:0.0	.	206;138	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	K	206;138	ENSP00000356940:Q206K;ENSP00000336998:Q138K	ENSP00000336998:Q138K	Q	-	1	0	MOXD1	132735487	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.724000	0.84798	2.358000	0.79984	0.650000	0.86243	CAA		0.348	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		21	86	1	0	1.50039e-11	0.001882	1.99377e-11	21	86				
BCLAF1	9774	broad.mit.edu	37	6	136590641	136590641	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:136590641C>A	ENST00000531224.1	-	9	2405	c.2153G>T	c.(2152-2154)aGt>aTt	p.S718I	BCLAF1_ENST00000392348.2_Missense_Mutation_p.S716I|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S716I|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S545I|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S718I|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S716I|BCLAF1_ENST00000031135.9_5'Flank	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	718					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.S718I(2)		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)		TCTTGATCCACTGGATTCCCT	0.403																																					Colon(142;1534 1789 5427 7063 28491)	Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2152-2154)AGT>ATT		BCL2-associated transcription factor 1 isoform							111.0	108.0	109.0					6																	136590641		2203	4299	6502	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136590641C>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.2153G>T	6.37:g.136590641C>A	ENSP00000435210:p.Ser718Ile					BCLAF1_uc011edb.1_5'Flank|BCLAF1_uc003qgw.1_Missense_Mutation_p.S545I|BCLAF1_uc003qgy.1_Missense_Mutation_p.S716I|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.S716I	p.S718I	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	9	2406	-	Colorectal(23;0.24)		718					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.2153G>T	CCDS5177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.78|16.78	3.218551|3.218551	0.58560|0.58560	.|.	.|.	ENSG00000029363|ENSG00000029363	ENST00000534762|ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	.|T;T;T;T;T;T;T	.|0.15372	.|2.43;2.43;2.43;2.43;2.43;2.43;2.43	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	.|0.268722	.|0.32328	.|N	.|0.006259	T|T	0.28234|0.28234	0.0697|0.0697	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.69078	.|0.997;0.997;0.997;0.997	.|D;D;D;D	.|0.78314	.|0.991;0.991;0.991;0.991	T|T	0.03306|0.03306	-1.1050|-1.1050	5|10	.|0.87932	.|D	.|0	-4.2378|-4.2378	18.8672|18.8672	0.92298|0.92298	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|716;716;718;545	.|Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.|.;.;BCLF1_HUMAN;.	H|I	6|718;716;718;545;716;716;717	.|ENSP00000435210:S718I;ENSP00000229446:S716I;ENSP00000435441:S718I;ENSP00000436501:S545I;ENSP00000434826:S716I;ENSP00000376159:S716I;ENSP00000431734:S717I	.|ENSP00000229446:S716I	Q|S	-|-	3|2	2|0	BCLAF1|BCLAF1	136632334|136632334	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.795000|0.795000	0.44927|0.44927	6.654000|6.654000	0.74387|0.74387	2.543000|2.543000	0.85770|0.85770	0.655000|0.655000	0.94253|0.94253	CAG|AGT		0.403	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		19	125	1	0	8.28177e-16	0.007413	1.24305e-15	19	125				
TXLNB	167838	broad.mit.edu	37	6	139583834	139583834	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:139583834G>T	ENST00000358430.3	-	5	996	c.764C>A	c.(763-765)aCg>aAg	p.T255K		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	255						cytoplasm (GO:0005737)		p.T255K(2)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CTGGATGTCCGTGAGGGTACT	0.488																																							uc011eds.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)	2						c.(763-765)ACG>AAG		taxilin beta							189.0	148.0	162.0					6																	139583834		2203	4300	6503	SO:0001583	missense	167838					cytoplasm		g.chr6:139583834G>T		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.764C>A	6.37:g.139583834G>T	ENSP00000351206:p.Thr255Lys						p.T255K	NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)	5	929	-			255			Potential.		Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	ENST00000358430.3	37	c.764C>A	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.567095	0.45694	.	.	ENSG00000164440	ENST00000358430	T	0.26223	1.75	5.75	4.86	0.63082	.	0.210974	0.49916	D	0.000121	T	0.07324	0.0185	N	0.12831	0.26	0.24560	N	0.993978	P	0.37985	0.613	B	0.41723	0.365	T	0.16778	-1.0391	9	.	.	.	-10.855	10.7358	0.46124	0.0:0.2008:0.6863:0.1129	.	255	Q8N3L3	TXLNB_HUMAN	K	255	ENSP00000351206:T255K	.	T	-	2	0	TXLNB	139625527	0.623000	0.27094	0.960000	0.40013	0.449000	0.32228	0.953000	0.29162	2.712000	0.92718	0.655000	0.94253	ACG		0.488	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		45	117	1	0	8.99859e-20	0.00361	1.46204e-19	45	117				
UTRN	7402	broad.mit.edu	37	6	144854358	144854358	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:144854358G>T	ENST00000367545.3	+	42	6195	c.6195G>T	c.(6193-6195)tgG>tgT	p.W2065C		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2065					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.W2065C(2)		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)		ACCAACGCTGGGATGCAATTG	0.438																																							uc003qkt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(6193-6195)TGG>TGT		utrophin							83.0	86.0	85.0					6																	144854358		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.chr6:144854358G>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.6195G>T	6.37:g.144854358G>T	ENSP00000356515:p.Trp2065Cys						p.W2065C	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)	42	6287	+		Ovarian(120;0.218)	2065			Spectrin 14.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.6195G>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655837	0.47467	.	.	ENSG00000152818	ENST00000367545	T	0.68903	-0.36	5.35	4.47	0.54385	.	0.000000	0.48767	D	0.000177	T	0.80110	0.4563	M	0.84585	2.705	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.83257	-0.0050	10	0.87932	D	0	.	14.4092	0.67103	0.0727:0.0:0.9273:0.0	.	2065	P46939	UTRO_HUMAN	C	2065	ENSP00000356515:W2065C	ENSP00000356515:W2065C	W	+	3	0	UTRN	144896051	1.000000	0.71417	0.916000	0.36221	0.293000	0.27360	6.324000	0.72896	2.498000	0.84270	0.467000	0.42956	TGG		0.438	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			24	100	1	0	1.30988e-24	0.002096	2.29374e-24	24	100				
GPR31	2853	broad.mit.edu	37	6	167571250	167571250	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:167571250C>G	ENST00000366834.1	-	1	567	c.70G>C	c.(70-72)Gag>Cag	p.E24Q		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	24					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E24Q(2)		NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		AGCCCACACTCCAGCCCCAGC	0.657																																							uc011egq.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(70-72)GAG>CAG		G protein-coupled receptor 31							30.0	24.0	26.0					6																	167571250		2200	4299	6499	SO:0001583	missense	2853					integral to plasma membrane	G-protein coupled receptor activity	g.chr6:167571250C>G	U65402	CCDS5299.1	6q27	2012-08-21				ENSG00000120436		"""GPCR / Class A : Orphans"""	4486	protein-coding gene	gene with protein product	"""hydroxyeicosatetraenoic (HETE) acid receptor 1"", ""12-(S)-HETE acid receptor"""	602043				9205127, 21712392	Standard	NM_005299		Approved	HETER1, 12-HETER	uc011egq.2	O00270		ENST00000366834.1:c.70G>C	6.37:g.167571250C>G	ENSP00000355799:p.Glu24Gln						p.E24Q	NM_005299	NP_005290	O00270	GPR31_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)	1	70	-		Breast(66;1.53e-05)|Ovarian(120;0.0606)	24			Helical; Name=1; (Potential).		B0M0K2|Q4VBL3|Q9NQ20	Missense_Mutation	SNP	ENST00000366834.1	37	c.70G>C	CCDS5299.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988829	0.53934	.	.	ENSG00000120436	ENST00000366834	T	0.36878	1.23	3.54	3.54	0.40534	.	0.000000	0.37857	N	0.001915	T	0.26231	0.0640	N	0.08118	0	0.40783	D	0.983197	D	0.76494	0.999	D	0.69307	0.963	T	0.34502	-0.9826	10	0.52906	T	0.07	-36.8862	13.8646	0.63581	0.0:1.0:0.0:0.0	.	24	O00270	GPR31_HUMAN	Q	24	ENSP00000355799:E24Q	ENSP00000355799:E24Q	E	-	1	0	GPR31	167491240	.	.	0.987000	0.45799	0.095000	0.18619	.	.	1.804000	0.52760	0.313000	0.20887	GAG		0.657	GPR31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043111.1	NM_005299		8	26	0	0	0	0.006214	0	8	26				
THBS2	7058	broad.mit.edu	37	6	169648571	169648571	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:169648571G>A	ENST00000366787.3	-	4	799	c.550C>T	c.(550-552)Cag>Tag	p.Q184*		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	184	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.Q184*(2)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TTTTCCGCCTGCAGGTGCTCG	0.617																																					Esophageal Squamous(91;219 1934 18562 44706)	Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(5)	5						c.(550-552)CAG>TAG		thrombospondin 2 precursor							85.0	87.0	87.0					6																	169648571		2203	4300	6503	SO:0001587	stop_gained	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169648571G>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.550C>T	6.37:g.169648571G>A	ENSP00000355751:p.Gln184*						p.Q184*	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	4	798	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	184			TSP N-terminal.|Heparin-binding (Potential).		A6H8N1|A7E232|Q5RI52	Nonsense_Mutation	SNP	ENST00000366787.3	37	c.550C>T	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	G	32	5.157851	0.94686	.	.	ENSG00000186340	ENST00000366787	.	.	.	4.5	-4.87	0.03123	.	1.846180	0.04062	U	0.306473	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-2.2814	9.5058	0.39046	0.0:0.1251:0.5535:0.3213	.	.	.	.	X	184	.	ENSP00000355751:Q184X	Q	-	1	0	THBS2	169390496	0.057000	0.20700	0.002000	0.10522	0.664000	0.39144	0.098000	0.15189	-1.275000	0.02417	0.563000	0.77884	CAG		0.617	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		67	228	0	0	0	0.00361	0	67	228				
DLL1	28514	broad.mit.edu	37	6	170594720	170594720	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:170594720T>A	ENST00000366756.3	-	6	1132	c.799A>T	c.(799-801)Acc>Tcc	p.T267S		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	267	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)	p.T267S(1)		NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TGCTGGCAGGTGCCATGGAGA	0.607																																							uc003qxm.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(1)	5						c.(799-801)ACC>TCC		delta-like 1 precursor							43.0	50.0	47.0					6																	170594720		2203	4300	6503	SO:0001583	missense	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170594720T>A	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.799A>T	6.37:g.170594720T>A	ENSP00000355718:p.Thr267Ser						p.T267S	NM_005618	NP_005609	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	6	1269	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	267			Extracellular (Potential).|EGF-like 2.		B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Missense_Mutation	SNP	ENST00000366756.3	37	c.799A>T	CCDS5313.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.702337	0.88924	.	.	ENSG00000198719	ENST00000366756	T	0.03212	4.01	5.08	5.08	0.68730	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.02688	0.0081	N	0.17764	0.52	0.80722	D	1	D	0.54397	0.966	P	0.52823	0.71	T	0.65113	-0.6247	10	0.32370	T	0.25	.	14.8483	0.70277	0.0:0.0:0.0:1.0	.	267	O00548	DLL1_HUMAN	S	267	ENSP00000355718:T267S	ENSP00000355718:T267S	T	-	1	0	DLL1	170436645	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.245000	0.72398	1.924000	0.55735	0.460000	0.39030	ACC		0.607	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1			14	52	0	0	0	0.005443	0	14	52				
CYP2W1	54905	broad.mit.edu	37	7	1026291	1026291	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:1026291T>A	ENST00000308919.7	+	5	690	c.677T>A	c.(676-678)cTg>cAg	p.L226Q	CYP2W1_ENST00000340150.6_Missense_Mutation_p.L170Q	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	226					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.L226Q(1)		breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CTCGGGGCCCTGCTCCAGCTG	0.697																																							uc003sjq.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(676-678)CTG>CAG		cytochrome P450, family 2, subfamily W,							39.0	46.0	43.0					7																	1026291		2200	4297	6497	SO:0001583	missense	54905				xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr7:1026291T>A	AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"""Cytochrome P450s"""	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.677T>A	7.37:g.1026291T>A	ENSP00000310149:p.Leu226Gln					CYP2W1_uc003sjr.1_Missense_Mutation_p.L226Q	p.L226Q	NM_017781	NP_060251	Q8TAV3	CP2W1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)	5	690	+		Ovarian(82;0.0112)	226						Missense_Mutation	SNP	ENST00000308919.7	37	c.677T>A	CCDS5319.2	.	.	.	.	.	.	.	.	.	.	T	13.60	2.284757	0.40394	.	.	ENSG00000073067	ENST00000308919;ENST00000340150	T;T	0.72167	-0.63;-0.63	4.05	4.05	0.47172	.	0.870661	0.10196	N	0.703993	D	0.85720	0.5762	M	0.87758	2.905	0.18873	N	0.999985	D;D	0.89917	0.998;1.0	D;D	0.76071	0.976;0.987	T	0.73839	-0.3856	10	0.87932	D	0	.	12.2818	0.54767	0.0:0.0:0.0:1.0	.	170;226	A6NJ10;Q8TAV3	.;CP2W1_HUMAN	Q	226;170	ENSP00000310149:L226Q;ENSP00000344178:L170Q	ENSP00000310149:L226Q	L	+	2	0	CYP2W1	992817	0.000000	0.05858	0.432000	0.26747	0.755000	0.42902	0.486000	0.22340	1.796000	0.52611	0.459000	0.35465	CTG		0.697	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157249.1	NM_017781		13	68	0	0	0	0.001855	0	13	68				
AGMO	392636	broad.mit.edu	37	7	15430314	15430314	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:15430314A>T	ENST00000342526.3	-	8	973	c.804T>A	c.(802-804)ttT>ttA	p.F268L		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	268					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)	p.F268L(2)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TGATTGGTTCAAATGTATTAA	0.289																																							uc003stb.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(802-804)TTT>TTA		transmembrane protein 195							124.0	136.0	132.0					7																	15430314		2203	4295	6498	SO:0001583	missense	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15430314A>T		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.804T>A	7.37:g.15430314A>T	ENSP00000341662:p.Phe268Leu						p.F268L	NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN			8	974	-			268					A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.804T>A	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	A	19.57	3.852755	0.71719	.	.	ENSG00000187546	ENST00000342526	T	0.34472	1.36	5.1	3.95	0.45737	.	0.050507	0.85682	D	0.000000	T	0.55226	0.1907	M	0.79343	2.45	0.51233	D	0.999912	D	0.63046	0.992	D	0.63597	0.916	T	0.58476	-0.7630	10	0.52906	T	0.07	-43.748	10.496	0.44777	0.9232:0.0:0.0768:0.0	.	268	Q6ZNB7	ALKMO_HUMAN	L	268	ENSP00000341662:F268L	ENSP00000341662:F268L	F	-	3	2	AGMO	15396839	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.239000	0.51360	2.048000	0.60808	0.482000	0.46254	TTT		0.289	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		21	122	0	0	0	0.001882	0	21	122				
SNX13	23161	broad.mit.edu	37	7	17836453	17836453	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:17836453G>A	ENST00000409389.1	-	25	2828	c.2656C>T	c.(2656-2658)Cca>Tca	p.P886S	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Missense_Mutation_p.P875S			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	886					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					CACTCACCTGGCATAATTGCA	0.353																																							uc003stw.1		NA																	0				central_nervous_system(2)|kidney(1)	3						c.(2656-2658)CCA>TCA		SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;							174.0	156.0	162.0					7																	17836453		1843	4085	5928	SO:0001583	missense	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17836453G>A	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.2656C>T	7.37:g.17836453G>A	ENSP00000386705:p.Pro886Ser					SNX13_uc003stv.2_Missense_Mutation_p.P875S|SNX13_uc010kuc.2_Missense_Mutation_p.P672S|SNX13_uc010kub.2_Missense_Mutation_p.P281S	p.P886S			Q9Y5W8	SNX13_HUMAN			25	2869	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		886					B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	ENST00000409389.1	37	c.2656C>T		.	.	.	.	.	.	.	.	.	.	G	17.42	3.383960	0.61845	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.36878	1.23;1.23	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.57021	0.2025	L	0.53671	1.685	0.80722	D	1	D;D;P	0.71674	0.964;0.998;0.955	P;D;P	0.70935	0.722;0.971;0.717	T	0.55927	-0.8063	10	0.52906	T	0.07	.	19.214	0.93768	0.0:0.0:1.0:0.0	.	672;886;875	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	S	886;875;923	ENSP00000386705:P886S;ENSP00000398789:P875S	ENSP00000242044:P923S	P	-	1	0	SNX13	17802978	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.476000	0.97823	2.529000	0.85273	0.557000	0.71058	CCA		0.353	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		4	117	0	0	0	0.009096	0	4	117				
HOXA5	3202	broad.mit.edu	37	7	27181480	27181480	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:27181480C>A	ENST00000222726.3	-	2	847	c.787G>T	c.(787-789)Gcg>Tcg	p.A263S	HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA5_ENST00000520854.1_5'UTR|HOXA3_ENST00000521401.1_5'Flank|RP1-170O19.22_ENST00000467897.2_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	263					anterior/posterior pattern specification (GO:0009952)|bronchiole development (GO:0060435)|cell migration (GO:0016477)|cell-cell signaling involved in mammary gland development (GO:0060764)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|intestinal epithelial cell maturation (GO:0060574)|lung alveolus development (GO:0048286)|lung goblet cell differentiation (GO:0060480)|lung-associated mesenchyme development (GO:0060484)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal-epithelial cell signaling (GO:0060638)|multicellular organism growth (GO:0035264)|negative regulation of angiogenesis (GO:0016525)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of apoptotic process (GO:0043065)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|respiratory system process (GO:0003016)|thyroid gland development (GO:0030878)|trachea cartilage morphogenesis (GO:0060535)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A263S(2)		central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						CCTCCTGCCGCGGCCATGCTC	0.468											OREG0017911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(119;75 2200 7557 42868)	Colon(119;75 2200 7557 42868)	uc003syn.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(787-789)GCG>TCG		homeobox A5							105.0	103.0	104.0					7																	27181480		2203	4300	6503	SO:0001583	missense	3202				negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27181480C>A		CCDS5406.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106004	ENSG00000106004		"""Homeoboxes / ANTP class : HOXL subclass"""	5106	protein-coding gene	gene with protein product		142952	"""homeo box A5"""	HOX1C, HOX1		1973146, 1358459	Standard	NM_019102		Approved		uc003syn.2	P20719	OTTHUMG00000023214	ENST00000222726.3:c.787G>T	7.37:g.27181480C>A	ENSP00000222726:p.Ala263Ser		OREG0017911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	792		p.A263S	NM_019102	NP_061975	P20719	HXA5_HUMAN			2	848	-			263					A4D179|O43367|Q96CY6	Missense_Mutation	SNP	ENST00000222726.3	37	c.787G>T	CCDS5406.1	.	.	.	.	.	.	.	.	.	.	C	9.333	1.061155	0.19987	.	.	ENSG00000106004	ENST00000222726	D	0.91577	-2.87	5.11	5.11	0.69529	.	0.058312	0.64402	D	0.000003	T	0.78972	0.4368	N	0.04132	-0.27	0.47245	D	0.999366	P	0.42620	0.785	B	0.34873	0.191	T	0.80246	-0.1462	10	0.23891	T	0.37	.	18.9046	0.92455	0.0:1.0:0.0:0.0	.	263	P20719	HXA5_HUMAN	S	263	ENSP00000222726:A263S	ENSP00000222726:A263S	A	-	1	0	HOXA5	27148005	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.583000	0.60964	2.548000	0.85928	0.543000	0.68304	GCG		0.468	HOXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358705.1			15	144	1	0	1.67942e-08	0.006122	1.99004e-08	15	144				
HERPUD2	64224	broad.mit.edu	37	7	35709856	35709856	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:35709856C>T	ENST00000396081.1	-	3	1112	c.308G>A	c.(307-309)aGt>aAt	p.S103N	HERPUD2_ENST00000311350.3_Missense_Mutation_p.S103N|HERPUD2_ENST00000426180.1_5'Flank	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	103	Ser-rich.				response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.S103N(2)		kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TGCTTCATGACTTTCTCTATT	0.378																																							uc003tet.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(307-309)AGT>AAT		HERPUD family member 2							142.0	134.0	137.0					7																	35709856		2203	4300	6503	SO:0001583	missense	64224				response to unfolded protein	integral to membrane		g.chr7:35709856C>T	BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"""						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.308G>A	7.37:g.35709856C>T	ENSP00000379390:p.Ser103Asn					HERPUD2_uc003tes.3_Missense_Mutation_p.S103N	p.S103N	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN			3	1113	-			103			Ser-rich.		A4D1Y8|Q9H6F9	Missense_Mutation	SNP	ENST00000396081.1	37	c.308G>A	CCDS5446.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594362	0.28445	.	.	ENSG00000122557	ENST00000396081;ENST00000311350;ENST00000413517	T;T;T	0.22336	2.69;2.69;1.96	5.66	-0.981	0.10269	.	0.718660	0.14077	N	0.342972	T	0.08268	0.0206	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34650	-0.9820	10	0.22706	T	0.39	-20.8569	6.0385	0.19720	0.0:0.3226:0.2322:0.4453	.	103	Q9BSE4	HERP2_HUMAN	N	103;103;77	ENSP00000379390:S103N;ENSP00000310729:S103N;ENSP00000391015:S77N	ENSP00000310729:S103N	S	-	2	0	HERPUD2	35676381	0.001000	0.12720	0.026000	0.17262	0.839000	0.47603	0.031000	0.13710	-0.251000	0.09542	0.460000	0.39030	AGT		0.378	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373		6	91	0	0	0	0.001984	0	6	91				
TRGC1	6966	broad.mit.edu	37	7	38305252	38305252	+	RNA	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:38305252G>T	ENST00000443402.2	-	0	27					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											AGTGGGCTTGGGGGAAACATC	0.378																																							uc003tge.1		NA																	0					0						c.(454-456)CCC>CAC		Homo sapiens TCRgamma alternate reading frame protein (TCRg) mRNA, complete cds.							145.0	156.0	153.0					7																	38305252		1798	4075	5873			445347							g.chr7:38305252G>T	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38305252G>T						uc003tfz.1_Intron|TARP_uc003tgb.2_5'UTR|TARP_uc003tgc.1_5'UTR|TARP_uc003tgd.1_5'UTR|TARP_uc010kxi.1_RNA|TARP_uc003tgf.1_RNA|TARP_uc003tgj.1_RNA|TARP_uc003tgh.1_RNA|TARP_uc003tgi.1_RNA|TARP_uc003tgg.1_RNA	p.P152H			A2JGV3	A2JGV3_HUMAN			5	832	-			Error:Variant_position_missing_in_A2JGV3_after_alignment						Missense_Mutation	SNP	ENST00000443402.2	37	c.455C>A																																																																																					0.378	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		35	246	1	0	1.07637e-12	0.004878	1.50921e-12	35	246				
AMPH	273	broad.mit.edu	37	7	38471793	38471793	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:38471793C>A	ENST00000356264.2	-	13	1369	c.1154G>T	c.(1153-1155)tGg>tTg	p.W385L	AMPH_ENST00000325590.5_Missense_Mutation_p.W385L|AMPH_ENST00000428293.2_Missense_Mutation_p.W385L|AMPH_ENST00000471913.1_5'Flank	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	385					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.W385L(3)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GCTTACCGTCCATAGGTCCCA	0.323																																							uc003tgu.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(3)|liver(1)|skin(1)	5						c.(1153-1155)TGG>TTG		amphiphysin isoform 1							106.0	109.0	108.0					7																	38471793		2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38471793C>A		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1154G>T	7.37:g.38471793C>A	ENSP00000348602:p.Trp385Leu					AMPH_uc003tgv.2_Missense_Mutation_p.W385L|AMPH_uc003tgt.2_Missense_Mutation_p.W138L|AMPH_uc003tgw.1_5'Flank|AMPH_uc010kxl.1_5'Flank	p.W385L	NM_001635	NP_001626	P49418	AMPH_HUMAN			13	1223	-			385					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.1154G>T	CCDS5456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.511891|4.511891	0.85389|0.85389	.|.	.|.	ENSG00000078053|ENSG00000078053	ENST00000441628|ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242	.|T;T;T	.|0.75704	.|-0.65;-0.96;-0.18	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85318|0.85318	0.5669|0.5669	M|M	0.71581|0.71581	2.175|2.175	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.998;0.997	T|T	0.81433|0.81433	-0.0935|-0.0935	5|10	.|0.22109	.|T	.|0.4	-8.5168|-8.5168	19.5078|19.5078	0.95127|0.95127	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|385;385;141	.|P49418-2;P49418;Q8NFL4	.|.;AMPH_HUMAN;.	I|L	135|385;385;385;155	.|ENSP00000317441:W385L;ENSP00000348602:W385L;ENSP00000390734:W385L	.|ENSP00000317441:W385L	M|W	-|-	3|2	0|0	AMPH|AMPH	38438318|38438318	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.265000|5.265000	0.65519|0.65519	2.613000|2.613000	0.88420|0.88420	0.655000|0.655000	0.94253|0.94253	ATG|TGG		0.323	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		20	69	1	0	4.96729e-08	0.008871	5.78172e-08	20	69				
HECW1	23072	broad.mit.edu	37	7	43436451	43436451	+	Silent	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:43436451A>G	ENST00000395891.2	+	7	1199	c.594A>G	c.(592-594)ggA>ggG	p.G198G	HECW1_ENST00000453890.1_Silent_p.G198G|HECW1_ENST00000471043.1_3'UTR	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	198	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G177G(2)|p.G198G(2)		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						CCGTCCAAGGACAAGGAAGTC	0.423																																							uc003tid.1		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(592-594)GGA>GGG		NEDD4-like ubiquitin-protein ligase 1							176.0	168.0	170.0					7																	43436451		1888	4111	5999	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43436451A>G	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.594A>G	7.37:g.43436451A>G						HECW1_uc011kbi.1_Silent_p.G198G|HECW1_uc003tie.1_Silent_p.G230G	p.G198G	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			7	1199	+			198			C2.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.594A>G	CCDS5469.2																																																																																				0.423	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		14	118	0	0	0	0.001855	0	14	118				
HECW1	23072	broad.mit.edu	37	7	43447307	43447307	+	Missense_Mutation	SNP	G	G	T	rs201297726		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:43447307G>T	ENST00000395891.2	+	8	1383	c.778G>T	c.(778-780)Gtg>Ttg	p.V260L	HECW1_ENST00000453890.1_Missense_Mutation_p.V260L|HECW1_ENST00000471043.1_3'UTR	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	260	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.V239L(2)|p.V260L(2)		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						AGGCAACACCGTGAACCCCAT	0.547																																							uc003tid.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(778-780)GTG>TTG		NEDD4-like ubiquitin-protein ligase 1							59.0	60.0	60.0					7																	43447307		1964	4161	6125	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43447307G>T	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.778G>T	7.37:g.43447307G>T	ENSP00000379228:p.Val260Leu					HECW1_uc011kbi.1_Missense_Mutation_p.V260L|HECW1_uc003tie.1_Missense_Mutation_p.V292L	p.V260L	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			8	1383	+			260			C2.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.778G>T	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.319362	0.81469	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.35048	1.33;1.33	5.35	4.47	0.54385	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.184812	0.48286	D	0.000191	T	0.45538	0.1347	N	0.22421	0.69	0.43652	D	0.996066	D;P;D	0.76494	0.999;0.889;0.999	D;P;D	0.87578	0.997;0.508;0.998	T	0.47611	-0.9104	10	0.62326	D	0.03	.	13.5564	0.61761	0.0748:0.0:0.9252:0.0	.	260;292;260	B4DH42;B3KR18;Q76N89	.;.;HECW1_HUMAN	L	260;260;259	ENSP00000379228:V260L;ENSP00000407774:V260L	ENSP00000265522:V259L	V	+	1	0	HECW1	43413832	1.000000	0.71417	0.366000	0.25914	0.991000	0.79684	3.940000	0.56599	1.241000	0.43820	0.563000	0.77884	GTG		0.547	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		14	82	1	0	0.00244969	0.00245	0.00254329	14	82				
URGCP	55665	broad.mit.edu	37	7	43918478	43918478	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:43918478T>A	ENST00000453200.1	-	6	1077	c.584A>T	c.(583-585)gAc>gTc	p.D195V	URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_Missense_Mutation_p.D152V|URGCP_ENST00000443736.1_Missense_Mutation_p.D152V|URGCP_ENST00000402306.3_Missense_Mutation_p.D186V|URGCP_ENST00000447717.3_Missense_Mutation_p.D152V|URGCP_ENST00000336086.6_Missense_Mutation_p.D152V|URGCP_ENST00000497914.1_5'UTR			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	195					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.D152V(2)|p.D195V(2)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGGAAACTGTCTGAGGAGAG	0.517																																							uc003tiw.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|liver(1)|skin(1)	4						c.(583-585)GAC>GTC		up-regulated gene 4 isoform 3							57.0	61.0	60.0					7																	43918478		2035	4197	6232	SO:0001583	missense	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43918478T>A		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.584A>T	7.37:g.43918478T>A	ENSP00000396918:p.Asp195Val					URGCP_uc003tiu.2_Missense_Mutation_p.D152V|URGCP_uc003tiv.2_Missense_Mutation_p.D120V|URGCP_uc003tix.2_Missense_Mutation_p.D186V|URGCP_uc003tiy.2_Missense_Mutation_p.D152V|URGCP_uc003tiz.2_Missense_Mutation_p.D152V|URGCP_uc011kbj.1_Missense_Mutation_p.D152V	p.D195V	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN			6	641	-			195					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	c.584A>T	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	T	16.96	3.264888	0.59431	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717;ENST00000426198	T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.66	5.66	0.87406	.	0.155059	0.56097	D	0.000039	T	0.70544	0.3236	M	0.85630	2.765	0.51012	D	0.999902	D;D	0.76494	0.999;0.999	D;D	0.68192	0.956;0.956	T	0.76141	-0.3068	10	0.87932	D	0	-32.7004	13.8329	0.63391	0.0:0.0:0.0:1.0	.	186;195	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	V	152;152;186;152;195;152;152	ENSP00000223341:D152V;ENSP00000336872:D152V;ENSP00000384955:D186V;ENSP00000392136:D152V;ENSP00000396918:D195V;ENSP00000402803:D152V;ENSP00000389990:D152V	ENSP00000223341:D152V	D	-	2	0	URGCP	43885003	1.000000	0.71417	0.069000	0.20011	0.997000	0.91878	7.745000	0.85046	2.158000	0.67659	0.482000	0.46254	GAC		0.517	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		24	54	0	0	0	0.003954	0	24	54				
PKD1L1	168507	broad.mit.edu	37	7	47869180	47869180	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:47869180C>T	ENST00000289672.2	-	44	6628	c.6578G>A	c.(6577-6579)gGt>gAt	p.G2193D		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2193					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.G2193D(2)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCAAGCAAAACCCAAGGCCAT	0.498																																							uc003tny.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(6577-6579)GGT>GAT		polycystin-1L1							151.0	150.0	151.0					7																	47869180		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47869180C>T	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.6578G>A	7.37:g.47869180C>T	ENSP00000289672:p.Gly2193Asp					C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_5'Flank	p.G2193D	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			44	6578	-			2193			Helical; (Potential).		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.6578G>A	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	8.915	0.959765	0.18507	.	.	ENSG00000158683	ENST00000289672	T	0.21191	2.02	4.21	1.08	0.20341	.	0.941457	0.08891	N	0.878647	T	0.16385	0.0394	L	0.43152	1.355	0.09310	N	1	B	0.27351	0.176	B	0.19391	0.025	T	0.26121	-1.0112	10	0.36615	T	0.2	-2.6213	6.7089	0.23266	0.1826:0.4142:0.4031:0.0	.	2193	Q8TDX9	PK1L1_HUMAN	D	2193	ENSP00000289672:G2193D	ENSP00000289672:G2193D	G	-	2	0	PKD1L1	47835705	0.000000	0.05858	0.038000	0.18304	0.989000	0.77384	-0.562000	0.05950	0.397000	0.25310	0.563000	0.77884	GGT		0.498	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		30	205	0	0	0	0.008361	0	30	205				
CDC14C	168448	broad.mit.edu	37	7	48965370	48965370	+	IGR	SNP	G	G	T	rs562917970		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:48965370G>T								AC004899.1 (74149 upstream) : AC010971.1 (304362 downstream)																							CTCTGGTGTTGATGACATTTC	0.468																																							uc010kyv.1		NA																	0					0						c.(1102-1104)GAT>TAT		SubName: Full=Putative uncharacterized protein MGC26484;																																				SO:0001628	intergenic_variant	168448							g.chr7:48965370G>T																													7.37:g.48965370G>T							p.D368Y	NR_003595						1	1214	+									Missense_Mutation	SNP		37	c.1102G>T																																																																																				0	0.468									4	71	1	0	2.74318e-10	0.006214	3.4586e-10	4	71				
ZPBP	11055	broad.mit.edu	37	7	50121455	50121455	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:50121455C>A	ENST00000046087.2	-	3	318	c.249G>T	c.(247-249)gtG>gtT	p.V83V	ZPBP_ENST00000419417.1_Silent_p.V83V	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	83					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)		p.V83V(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TTACACATAACACGTGTGGAC	0.353																																							uc003tou.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(247-249)GTG>GTT		zona pellucida binding protein isoform 1							139.0	129.0	132.0					7																	50121455		2203	4300	6503	SO:0001819	synonymous_variant	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50121455C>A	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.249G>T	7.37:g.50121455C>A						ZPBP_uc011kci.1_Silent_p.V9V|ZPBP_uc010kyw.2_Silent_p.V83V	p.V83V	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN			3	319	-	Glioma(55;0.08)|all_neural(89;0.245)		83					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Silent	SNP	ENST00000046087.2	37	c.249G>T	CCDS5509.1																																																																																				0.353	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		20	52	1	0	2.4624e-09	0.008871	2.9944e-09	20	52				
POM121L12	285877	broad.mit.edu	37	7	53104085	53104085	+	Missense_Mutation	SNP	G	G	T	rs374755593		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:53104085G>T	ENST00000408890.4	+	1	737	c.721G>T	c.(721-723)Ggc>Tgc	p.G241C		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	241								p.G241C(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCCGAGCCTCGGCCCCTGGAG	0.647																																							uc003tpz.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(721-723)GGC>TGC		POM121 membrane glycoprotein-like 12							45.0	53.0	50.0					7																	53104085		1977	4140	6117	SO:0001583	missense	285877							g.chr7:53104085G>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.721G>T	7.37:g.53104085G>T	ENSP00000386133:p.Gly241Cys						p.G241C	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	737	+			241					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.721G>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	9.573	1.121491	0.20877	.	.	ENSG00000221900	ENST00000408890	T	0.11277	2.79	2.03	-4.05	0.03998	.	.	.	.	.	T	0.03739	0.0106	N	0.04508	-0.205	0.09310	N	1	B	0.15930	0.015	B	0.16722	0.016	T	0.36962	-0.9726	9	0.52906	T	0.07	.	1.0886	0.01659	0.149:0.2259:0.3488:0.2763	.	241	Q8N7R1	P1L12_HUMAN	C	241	ENSP00000386133:G241C	ENSP00000386133:G241C	G	+	1	0	POM121L12	53071579	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.726000	0.01861	-1.980000	0.00990	-1.130000	0.01982	GGC		0.647	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		17	60	1	0	1.85244e-09	0.00333	2.26314e-09	17	60				
Unknown	0	broad.mit.edu	37	7	63680006	63680006	+	IGR	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:63680006T>A								GUSBP6 (68907 upstream) : ZNF679 (8845 downstream)																							ATATGGCAAATCATTTTGCAT	0.313																																							uc011kdn.1		NA																	0					0						c.(577-579)TCA>ACA		zinc finger protein 735							56.0	47.0	49.0					7																	63680006		692	1589	2281	SO:0001628	intergenic_variant	730291				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63680006T>A																													7.37:g.63680006T>A							p.S193T	NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN			4	577	+			193			C2H2-type 2; degenerate.			Missense_Mutation	SNP		37	c.577T>A																																																																																				0	0.313									3	10	0	0	0	0.004672	0	3	10				
WBSCR22	114049	broad.mit.edu	37	7	73101344	73101344	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:73101344G>T	ENST00000265758.2	+	5	339	c.281G>T	c.(280-282)cGa>cTa	p.R94L	WBSCR22_ENST00000423497.1_Missense_Mutation_p.R94L|WBSCR22_ENST00000423166.2_Intron	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	94					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.R94L(2)		autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				GCTGTGGACCGAGAGATAGAG	0.522																																							uc003tyt.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(280-282)CGA>CTA		Williams Beuren syndrome chromosome region 22							71.0	72.0	72.0					7																	73101344		2203	4300	6503	SO:0001583	missense	114049					nucleus	methyltransferase activity	g.chr7:73101344G>T	AF420248	CCDS5557.1, CCDS56490.1	7q11.23	2012-06-12			ENSG00000071462	ENSG00000071462			16405	protein-coding gene	gene with protein product	"""metastasis-related methyltransferase 1"""	615733				12073013, 11978965, 21148752	Standard	NM_001202560		Approved	MGC19709, MGC2022, MGC5140, PP3381, WBMT, MERM1	uc003tyt.3	O43709	OTTHUMG00000023306	ENST00000265758.2:c.281G>T	7.37:g.73101344G>T	ENSP00000265758:p.Arg94Leu					WBSCR22_uc010lbi.1_Intron|WBSCR22_uc003tyu.2_Missense_Mutation_p.R94L|WBSCR22_uc003tyv.2_Missense_Mutation_p.R56L|WBSCR22_uc003tyw.1_Intron	p.R94L	NM_017528	NP_059998	O43709	WBS22_HUMAN			5	339	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	94					A8K501|C9K060|Q96P12|Q9BQ58|Q9HBP9	Missense_Mutation	SNP	ENST00000265758.2	37	c.281G>T	CCDS5557.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509524	0.64522	.	.	ENSG00000071462	ENST00000265758;ENST00000423497	T;T	0.70164	-0.46;-0.46	4.69	4.69	0.59074	Methyltransferase type 11 (1);	0.114770	0.56097	D	0.000032	T	0.73544	0.3600	L	0.35341	1.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.76083	-0.3089	10	0.62326	D	0.03	-23.686	15.1268	0.72489	0.0:0.0:1.0:0.0	.	94;94	C9K060;O43709	.;WBS22_HUMAN	L	94	ENSP00000265758:R94L;ENSP00000401191:R94L	ENSP00000265758:R94L	R	+	2	0	WBSCR22	72739280	1.000000	0.71417	0.997000	0.53966	0.118000	0.20060	9.199000	0.95003	2.432000	0.82394	0.555000	0.69702	CGA		0.522	WBSCR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252303.1			27	125	1	0	1.17739e-12	0.005443	1.64501e-12	27	125				
CLIP2	7461	broad.mit.edu	37	7	73768231	73768231	+	Missense_Mutation	SNP	G	G	T	rs369942236		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:73768231G>T	ENST00000395060.1	+	3	700	c.700G>T	c.(700-702)Gtg>Ttg	p.V234L	CLIP2_ENST00000361545.5_Missense_Mutation_p.V234L|CLIP2_ENST00000223398.6_Missense_Mutation_p.V234L			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	234						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)		p.V234L(2)|p.V234M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GAAGACTGGCGTGGTGCGGTA	0.652																																							uc003uam.2		NA																	3	Substitution - Missense(3)		lung(2)|prostate(1)	skin(3)	3						c.(700-702)GTG>TTG		CAP-GLY domain containing linker protein 2							129.0	108.0	115.0					7																	73768231		2203	4300	6503	SO:0001583	missense	7461					microtubule associated complex		g.chr7:73768231G>T	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.700G>T	7.37:g.73768231G>T	ENSP00000378500:p.Val234Leu					CLIP2_uc003uan.2_Missense_Mutation_p.V234L	p.V234L	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN			4	1027	+			234					O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	c.700G>T	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303124	0.60195	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	D;D;D	0.91740	-2.9;-2.9;-2.9	5.5	4.62	0.57501	Cytoskeleton-associated protein, Gly-rich domain (3);	0.000000	0.85682	D	0.000000	D	0.94827	0.8329	M	0.64676	1.99	0.54753	D	0.999983	D;D	0.61697	0.988;0.99	D;D	0.85130	0.995;0.997	D	0.94889	0.8046	10	0.59425	D	0.04	-47.4758	13.1415	0.59438	0.0768:0.0:0.9232:0.0	.	234;234	Q9UDT6-2;Q9UDT6	.;CLIP2_HUMAN	L	234	ENSP00000223398:V234L;ENSP00000355151:V234L;ENSP00000378500:V234L	ENSP00000223398:V234L	V	+	1	0	CLIP2	73406167	1.000000	0.71417	0.900000	0.35374	0.053000	0.15095	9.399000	0.97285	1.567000	0.49668	-0.136000	0.14681	GTG		0.652	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		42	180	1	0	3.77016e-25	0.003214	6.64627e-25	42	180				
HGF	3082	broad.mit.edu	37	7	81388081	81388081	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:81388081C>A	ENST00000222390.5	-	3	520	c.294G>T	c.(292-294)tgG>tgT	p.W98C	HGF_ENST00000453411.1_Missense_Mutation_p.W98C|HGF_ENST00000354224.6_Missense_Mutation_p.W98C|HGF_ENST00000444829.2_Missense_Mutation_p.W98C|HGF_ENST00000457544.2_Missense_Mutation_p.W98C|HGF_ENST00000423064.2_Missense_Mutation_p.W98C|HGF_ENST00000453018.1_5'UTR	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	98	PAN. {ECO:0000255|PROSITE- ProRule:PRU00315}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.W98C(2)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TGAAGGGGAACCAGAGGCATT	0.323																																							uc003uhl.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)	4						c.(292-294)TGG>TGT		hepatocyte growth factor isoform 1							100.0	99.0	100.0					7																	81388081		2203	4299	6502	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81388081C>A		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.294G>T	7.37:g.81388081C>A	ENSP00000222390:p.Trp98Cys					HGF_uc003uhm.2_Missense_Mutation_p.W98C|HGF_uc003uhn.1_Missense_Mutation_p.W98C|HGF_uc003uho.1_Missense_Mutation_p.W98C|HGF_uc003uhp.2_Missense_Mutation_p.W98C	p.W98C	NM_000601	NP_000592	P14210	HGF_HUMAN			3	459	-			98			PAN.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.294G>T	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.503871	0.64410	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769;ENST00000423064;ENST00000354224;ENST00000412881;ENST00000421558	D;D;D;D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43;-2.43;-2.43;-2.43	5.33	5.33	0.75918	PAN-1 domain (1);Apple-like (2);	0.060205	0.64402	D	0.000001	D	0.93779	0.8011	M	0.65975	2.015	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;0.996;0.995;0.999;1.0	D	0.92785	0.6243	10	0.38643	T	0.18	.	19.0031	0.92841	0.0:1.0:0.0:0.0	.	133;98;98;98;98	Q59H59;P14210-5;P14210-2;P14210-3;P14210	.;.;.;.;HGF_HUMAN	C	98	ENSP00000222390:W98C;ENSP00000391238:W98C;ENSP00000389854:W98C;ENSP00000408270:W98C;ENSP00000413829:W98C;ENSP00000346164:W98C;ENSP00000396307:W98C;ENSP00000388592:W98C	ENSP00000222390:W98C	W	-	3	0	HGF	81226017	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.190000	0.58365	2.491000	0.84063	0.591000	0.81541	TGG		0.323	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		22	115	1	0	5.26018e-13	0.001882	7.44169e-13	22	115				
CACNA2D1	781	broad.mit.edu	37	7	81978919	81978919	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:81978919C>A	ENST00000356253.5	-	2	397	c.142G>T	c.(142-144)Gca>Tca	p.A48S	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.A48S|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.A48S			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	48					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.A48S(2)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GCTGTTTTTGCCAGTGTGACA	0.358																																							uc003uhr.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(1)	6						c.(142-144)GCA>TCA		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						210.0	194.0	199.0					7																	81978919		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81978919C>A	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.142G>T	7.37:g.81978919C>A	ENSP00000348589:p.Ala48Ser						p.A48S	NM_000722	NP_000713	P54289	CA2D1_HUMAN			2	398	-			48			Extracellular (Potential).		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.142G>T		.	.	.	.	.	.	.	.	.	.	C	17.55	3.418236	0.62622	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000423588	T;T;T	0.23950	3.22;3.22;1.88	6.01	6.01	0.97437	.	0.000000	0.64402	D	0.000001	T	0.32133	0.0819	L	0.56769	1.78	0.80722	D	1	B	0.23249	0.082	B	0.25291	0.059	T	0.02691	-1.1123	10	0.45353	T	0.12	-18.9022	19.3532	0.94398	0.0:1.0:0.0:0.0	.	48	P54289-2	.	S	48	ENSP00000349320:A48S;ENSP00000348589:A48S;ENSP00000405395:A48S	ENSP00000284088:A48S	A	-	1	0	CACNA2D1	81816855	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.319000	0.65835	2.873000	0.98535	0.644000	0.83932	GCA		0.358	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				54	197	1	0	2.44813e-32	0.00361	4.68235e-32	54	197				
PCLO	27445	broad.mit.edu	37	7	82581394	82581394	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:82581394C>A	ENST00000333891.9	-	5	9212	c.8875G>T	c.(8875-8877)Gca>Tca	p.A2959S	PCLO_ENST00000423517.2_Missense_Mutation_p.A2959S|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.A2959S(4)|p.A2890S(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGAGTAGTTGCAGGCTGCTGT	0.463																																							uc003uhx.2		NA																	6	Substitution - Missense(6)		lung(6)	ovary(7)	7						c.(8875-8877)GCA>TCA		piccolo isoform 1							113.0	112.0	112.0					7																	82581394		1926	4150	6076	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82581394C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8875G>T	7.37:g.82581394C>A	ENSP00000334319:p.Ala2959Ser					PCLO_uc003uhv.2_Missense_Mutation_p.A2959S|PCLO_uc010lec.2_5'Flank	p.A2959S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	9164	-			2890						Missense_Mutation	SNP	ENST00000333891.9	37	c.8875G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.283497	0.23392	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16597	2.33;2.33	5.67	5.67	0.87782	.	.	.	.	.	T	0.13157	0.0319	L	0.28274	0.84	0.80722	D	1	B;B	0.29988	0.264;0.264	B;B	0.27715	0.082;0.082	T	0.04078	-1.0979	9	0.87932	D	0	.	11.3187	0.49407	0.1319:0.7243:0.1438:0.0	.	2959;2959	Q9Y6V0-5;Q9Y6V0-6	.;.	S	2890;2959;2959	ENSP00000334319:A2959S;ENSP00000388393:A2959S	ENSP00000334319:A2959S	A	-	1	0	PCLO	82419330	0.103000	0.21917	1.000000	0.80357	0.998000	0.95712	0.453000	0.21811	2.660000	0.90430	0.557000	0.71058	GCA		0.463	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		42	163	1	0	3.09479e-21	0.006999	5.1558e-21	42	163				
ZNF804B	219578	broad.mit.edu	37	7	88965693	88965693	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:88965693G>T	ENST00000333190.4	+	4	4006	c.3397G>T	c.(3397-3399)Gaa>Taa	p.E1133*		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1133							metal ion binding (GO:0046872)	p.E1133*(2)		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)			AGACGGATTAGAAATGTGTCA	0.363										HNSCC(36;0.09)																													uc011khi.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(3397-3399)GAA>TAA		zinc finger protein 804B							58.0	59.0	59.0					7																	88965693		2203	4300	6503	SO:0001587	stop_gained	219578					intracellular	zinc ion binding	g.chr7:88965693G>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.3397G>T	7.37:g.88965693G>T	ENSP00000329638:p.Glu1133*	HNSCC(36;0.09)					p.E1133*	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3935	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1133					B2RTV2|Q7Z714|Q96MN7	Nonsense_Mutation	SNP	ENST00000333190.4	37	c.3397G>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	40	8.062060	0.98635	.	.	ENSG00000182348	ENST00000333190	.	.	.	4.61	3.7	0.42460	.	0.195021	0.35903	N	0.002909	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-12.1613	7.8054	0.29200	0.0859:0.1655:0.7486:0.0	.	.	.	.	X	1133	.	ENSP00000329638:E1133X	E	+	1	0	ZNF804B	88803629	1.000000	0.71417	0.876000	0.34364	0.023000	0.10783	3.084000	0.50143	1.254000	0.44035	0.655000	0.94253	GAA		0.363	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		24	88	1	0	7.33532e-06	0.003954	8.08424e-06	24	88				
SLC25A13	10165	broad.mit.edu	37	7	95818951	95818951	+	Missense_Mutation	SNP	C	C	A	rs531991442		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:95818951C>A	ENST00000265631.5	-	8	926	c.790G>T	c.(790-792)Gtt>Ttt	p.V264F	SLC25A13_ENST00000542654.1_Missense_Mutation_p.V156F|SLC25A13_ENST00000416240.2_Missense_Mutation_p.V264F			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	264					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)	p.V264F(2)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	ATGGGTGTAACCTGACCAAAT	0.353																																							uc003uof.3		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(3)|skin(1)	4						c.(790-792)GTT>TTT		solute carrier family 25, member 13 isoform 2	L-Aspartic Acid(DB00128)						118.0	133.0	128.0					7																	95818951		2203	4300	6503	SO:0001583	missense	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95818951C>A	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.790G>T	7.37:g.95818951C>A	ENSP00000265631:p.Val264Phe					SLC25A13_uc003uog.3_Missense_Mutation_p.V264F|SLC25A13_uc011kik.1_Missense_Mutation_p.V156F	p.V264F	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		8	981	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		264					O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	c.790G>T	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610336	0.46527	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.79749	-1.3;-1.3;-1.3	5.32	4.44	0.53790	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.72211	0.3432	N	0.22421	0.69	0.58432	D	0.999999	P;P;P	0.47762	0.9;0.84;0.84	P;B;B	0.47626	0.552;0.35;0.35	T	0.66420	-0.5928	10	0.11794	T	0.64	-26.1957	15.0417	0.71796	0.0:0.9285:0.0:0.0715	.	156;264;264	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	F	264;264;156	ENSP00000265631:V264F;ENSP00000400101:V264F;ENSP00000440484:V156F	ENSP00000265631:V264F	V	-	1	0	SLC25A13	95656887	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.334000	0.43920	2.941000	0.99782	0.655000	0.94253	GTT		0.353	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		40	180	1	0	6.04917e-29	0.006999	1.11633e-28	40	180				
EPHB4	2050	broad.mit.edu	37	7	100417356	100417356	+	Missense_Mutation	SNP	C	C	A	rs534368922	byFrequency	TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:100417356C>A	ENST00000358173.3	-	6	1588	c.1120G>T	c.(1120-1122)Ggg>Tgg	p.G374W	EPHB4_ENST00000360620.3_Missense_Mutation_p.G374W|EPHB4_ENST00000477446.1_5'UTR|RN7SL750P_ENST00000582814.1_RNA	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	374	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G374W(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGGTCTCCCCCGCAGGGCGCA	0.677																																					GBM(200;2113 3072 25865 52728)	GBM(200;2113 3072 25865 52728)	uc003uwn.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15						c.(1120-1122)GGG>TGG		EPH receptor B4 precursor							17.0	19.0	19.0					7																	100417356		2198	4292	6490	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100417356C>A	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.1120G>T	7.37:g.100417356C>A	ENSP00000350896:p.Gly374Trp					EPHB4_uc003uwm.1_Missense_Mutation_p.G281W|EPHB4_uc010lhj.1_Missense_Mutation_p.G374W|EPHB4_uc011kkf.1_Missense_Mutation_p.G374W|EPHB4_uc011kkg.1_Intron|EPHB4_uc011kkh.1_Missense_Mutation_p.G374W	p.G374W	NM_004444	NP_004435	P54760	EPHB4_HUMAN			6	1611	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		374			Extracellular (Potential).|Fibronectin type-III 1.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.1120G>T	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.512283	0.44660	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	D;D	0.97575	-4.44;-4.44	5.46	4.57	0.56435	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.137133	0.34156	N	0.004217	D	0.97939	0.9322	M	0.85859	2.78	0.26204	N	0.979396	D;D;D;D	0.76494	0.999;0.999;0.998;0.997	D;D;D;D	0.74348	0.983;0.976;0.975;0.963	D	0.93502	0.6845	10	0.87932	D	0	.	6.2938	0.21075	0.1845:0.7236:0.0:0.0918	.	374;374;374;374	B5A972;B5A970;Q96L35;P54760	.;.;.;EPHB4_HUMAN	W	374	ENSP00000353833:G374W;ENSP00000350896:G374W	ENSP00000350896:G374W	G	-	1	0	EPHB4	100255292	0.206000	0.23470	0.951000	0.38953	0.082000	0.17680	3.855000	0.55957	2.563000	0.86464	0.655000	0.94253	GGG		0.677	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		12	28	1	0	0.00185496	0.001855	0.00194118	12	28				
MUC17	140453	broad.mit.edu	37	7	100675547	100675547	+	Missense_Mutation	SNP	G	G	A	rs201857499		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:100675547G>A	ENST00000306151.4	+	3	914	c.850G>A	c.(850-852)Gtg>Atg	p.V284M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	284	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.V284M(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)					GCCTCTCAGCGTGATGCTGGT	0.507																																							uc003uxp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(850-852)GTG>ATG		mucin 17 precursor		A	MET/VAL	1,4405	826.1+/-416.6	0,1,2202	165.0	161.0	162.0		850	0.6	0.0	7		162	1,8599	819.2+/-406.8	0,1,4299	no	missense	MUC17	NM_001040105.1	21	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	284/4494	100675547	2,13004	2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100675547G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.850G>A	7.37:g.100675547G>A	ENSP00000302716:p.Val284Met					MUC17_uc010lho.1_RNA	p.V284M	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	903	+	Lung NSC(181;0.136)|all_lung(186;0.182)		284			Extracellular (Potential).|59 X approximate tandem repeats.|2.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.850G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	0.425	-0.906090	0.02453	2.27E-4	1.16E-4	ENSG00000169876	ENST00000306151	T	0.02763	4.17	0.623	0.623	0.17654	.	.	.	.	.	T	0.01353	0.0044	N	0.08118	0	0.09310	N	1	B	0.30937	0.301	B	0.04013	0.001	T	0.48917	-0.8992	9	0.33141	T	0.24	.	4.3182	0.11003	0.4669:0.0:0.5331:0.0	.	284	Q685J3	MUC17_HUMAN	M	284	ENSP00000302716:V284M	ENSP00000302716:V284M	V	+	1	0	MUC17	100462267	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.024000	0.13555	-0.321000	0.08627	-1.958000	0.00481	GTG		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		37	251	0	0	0	0.003755	0	37	251				
MUC17	140453	broad.mit.edu	37	7	100678561	100678561	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:100678561G>T	ENST00000306151.4	+	3	3928	c.3864G>T	c.(3862-3864)acG>acT	p.T1288T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1288	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.T1288T(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)					TCAGCACCACGCTGGTGACCA	0.473																																							uc003uxp.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(3862-3864)ACG>ACT		mucin 17 precursor							272.0	261.0	265.0					7																	100678561		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678561G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3864G>T	7.37:g.100678561G>T						MUC17_uc010lho.1_RNA	p.T1288T	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	3917	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1288			Extracellular (Potential).|Ser-rich.|19.|59 X approximate tandem repeats.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.3864G>T	CCDS34711.1																																																																																				0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		89	409	1	0	2.68325e-40	0.00361	5.286e-40	89	409				
MUC17	140453	broad.mit.edu	37	7	100683947	100683947	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:100683947A>G	ENST00000306151.4	+	3	9314	c.9250A>G	c.(9250-9252)Agt>Ggt	p.S3084G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3084	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.S3084G(2)		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)					TACTGAAGTCAGTTCATCTCC	0.507																																							uc003uxp.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(9250-9252)AGT>GGT		mucin 17 precursor							261.0	260.0	260.0					7																	100683947		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683947A>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9250A>G	7.37:g.100683947A>G	ENSP00000302716:p.Ser3084Gly					MUC17_uc010lho.1_RNA	p.S3084G	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	9303	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3084			Extracellular (Potential).|Ser-rich.|50.|59 X approximate tandem repeats.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9250A>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	N	6.675	0.493199	0.12702	.	.	ENSG00000169876	ENST00000306151	T	0.02050	4.48	1.18	-0.262	0.12958	.	.	.	.	.	T	0.01976	0.0062	N	0.24115	0.695	0.09310	N	1	P	0.43392	0.805	P	0.45506	0.483	T	0.47971	-0.9075	9	0.17832	T	0.49	.	4.8099	0.13339	0.7949:0.0:0.2051:0.0	.	3084	Q685J3	MUC17_HUMAN	G	3084	ENSP00000302716:S3084G	ENSP00000302716:S3084G	S	+	1	0	MUC17	100470667	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.356000	0.07661	-0.045000	0.13468	0.102000	0.15555	AGT		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		98	422	0	0	0	0.00361	0	98	422				
SH2B2	10603	broad.mit.edu	37	7	101944560	101944560	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:101944560C>T	ENST00000536178.1	+	2	900	c.855C>T	c.(853-855)ccC>ccT	p.P285P	SH2B2_ENST00000306803.8_Silent_p.P242P			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	242	PH. {ECO:0000255|PROSITE- ProRule:PRU00145, ECO:0000305}.				actin cytoskeleton organization (GO:0030036)|antigen receptor-mediated signaling pathway (GO:0050851)|B-1 B cell homeostasis (GO:0001922)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cytokine-mediated signaling pathway (GO:0019221)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|regulation of JAK-STAT cascade (GO:0046425)|regulation of metabolic process (GO:0019222)|regulation of Ras protein signal transduction (GO:0046578)|signal transduction (GO:0007165)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stress fiber (GO:0001725)	JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.P285P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						TCGTGCCGCCCAAAGTGAGTT	0.687																																							uc011kko.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(853-855)CCC>CCT		SH2B adaptor protein 2							15.0	17.0	16.0					7																	101944560		1993	4148	6141	SO:0001819	synonymous_variant	10603				blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity	g.chr7:101944560C>T	AB000520		7q22.1	2013-02-14			ENSG00000160999	ENSG00000160999		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	17381	protein-coding gene	gene with protein product	"""adaptor protein with pleckstrin homology and src"""	605300				9233773	Standard	XM_005276976		Approved	APS	uc011kko.2	O14492	OTTHUMG00000150652	ENST00000536178.1:c.855C>T	7.37:g.101944560C>T							p.P285P	NM_020979	NP_066189	O14492	SH2B2_HUMAN			2	900	+			242			PH.		A6ND74	Silent	SNP	ENST00000536178.1	37	c.855C>T																																																																																					0.687	SH2B2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_020979		4	16	0	0	0	0.009096	0	4	16				
RELN	5649	broad.mit.edu	37	7	103275876	103275876	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:103275876G>T	ENST00000428762.1	-	19	2620	c.2461C>A	c.(2461-2463)Ccc>Acc	p.P821T	RELN_ENST00000424685.2_Missense_Mutation_p.P821T|RELN_ENST00000343529.5_Missense_Mutation_p.P821T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	821					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.P821T(2)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACATACCTGGGCTCATGATAG	0.368																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(2461-2463)CCC>ACC		reelin isoform a							72.0	74.0	73.0					7																	103275876		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103275876G>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.2461C>A	7.37:g.103275876G>T	ENSP00000392423:p.Pro821Thr					RELN_uc010liz.2_Missense_Mutation_p.P821T	p.P821T	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	19	2621	-			821					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.2461C>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832250	0.71258	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.25085	1.82;2.03;1.82	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.52741	0.1753	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.991	T	0.33624	-0.9861	10	0.41790	T	0.15	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	821;821	P78509-2;P78509	.;RELN_HUMAN	T	821	ENSP00000392423:P821T;ENSP00000345694:P821T;ENSP00000388446:P821T	ENSP00000345694:P821T	P	-	1	0	RELN	103063112	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.893000	0.92498	2.894000	0.99253	0.591000	0.81541	CCC		0.368	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		29	90	1	0	1.55811e-20	0.008361	2.57399e-20	29	90				
PIK3CG	5294	broad.mit.edu	37	7	106513259	106513259	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:106513259G>T	ENST00000359195.3	+	4	2473	c.2163G>T	c.(2161-2163)ctG>ctT	p.L721L	PIK3CG_ENST00000496166.1_Silent_p.L721L|PIK3CG_ENST00000440650.2_Silent_p.L721L	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	721	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L721L(2)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AAGCCTATCTGAGGGGCTGTG	0.453																																							uc003vdv.3		NA																	2	Substitution - coding silent(2)		lung(2)	lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(2161-2163)CTG>CTT		phosphoinositide-3-kinase, catalytic, gamma							106.0	105.0	105.0					7																	106513259		2203	4300	6503	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106513259G>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2163G>T	7.37:g.106513259G>T						PIK3CG_uc003vdu.2_Silent_p.L721L|PIK3CG_uc003vdw.2_Silent_p.L721L	p.L721L	NM_002649	NP_002640	P48736	PK3CG_HUMAN			4	2248	+			721					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.2163G>T	CCDS5739.1																																																																																				0.453	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			39	107	1	0	2.19358e-23	0.005524	3.77411e-23	39	107				
NRCAM	4897	broad.mit.edu	37	7	107834586	107834586	+	Missense_Mutation	SNP	A	A	T	rs146218985	byFrequency	TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:107834586A>T	ENST00000425651.2	-	14	1659	c.1660T>A	c.(1660-1662)Tat>Aat	p.Y554N	NRCAM_ENST00000413765.2_Missense_Mutation_p.Y535N|NRCAM_ENST00000379024.4_Missense_Mutation_p.Y535N|NRCAM_ENST00000379022.4_Missense_Mutation_p.Y554N|NRCAM_ENST00000379028.3_Missense_Mutation_p.Y554N|NRCAM_ENST00000351718.4_Missense_Mutation_p.Y548N	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	554	Ig-like 6.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)	p.Y548N(2)|p.Y554N(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ACAACTGCATATTCGGGCTGT	0.413																																							uc003vfb.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|breast(2)	5						c.(1660-1662)TAT>AAT		neuronal cell adhesion molecule isoform A							186.0	139.0	155.0					7																	107834586		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107834586A>T		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.1660T>A	7.37:g.107834586A>T	ENSP00000401244:p.Tyr554Asn					NRCAM_uc003vfc.2_Missense_Mutation_p.Y548N|NRCAM_uc011kmk.1_Missense_Mutation_p.Y549N|NRCAM_uc003vfd.2_Missense_Mutation_p.Y530N|NRCAM_uc003vfe.2_Missense_Mutation_p.Y530N	p.Y554N	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN			17	2131	-			554			Ig-like 6.|Extracellular (Potential).		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.1660T>A	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.197865	0.38806	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979	T;T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89;-0.89	5.7	5.7	0.88788	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67590	0.2909	N	0.03154	-0.405	0.80722	D	1	P;D;P;P;B	0.89917	0.539;1.0;0.594;0.539;0.063	B;D;B;B;B	0.97110	0.316;1.0;0.348;0.236;0.103	T	0.65483	-0.6157	10	0.02654	T	1	.	15.9735	0.80040	1.0:0.0:0.0:0.0	.	554;535;535;548;554	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	N	554;554;535;554;548;535;554;554;548	ENSP00000368314:Y554N;ENSP00000407858:Y535N;ENSP00000325269:Y548N;ENSP00000368310:Y535N;ENSP00000401244:Y554N;ENSP00000368308:Y554N	ENSP00000325269:Y548N	Y	-	1	0	NRCAM	107621822	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	5.992000	0.70609	2.159000	0.67721	0.533000	0.62120	TAT		0.413	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		28	134	0	0	0	0.006999	0	28	134				
ING3	54556	broad.mit.edu	37	7	120608099	120608099	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:120608099G>C	ENST00000315870.5	+	8	816	c.668G>C	c.(667-669)gGg>gCg	p.G223A	ING3_ENST00000431467.1_Missense_Mutation_p.G208A	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	223					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|positive regulation of apoptotic process (GO:0043065)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.G223A(2)		NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					ACTGGTGCAGGGGCAATTACC	0.433																																							uc003vjn.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(667-669)GGG>GCG		inhibitor of growth family, member 3 isoform 1							71.0	71.0	71.0					7																	120608099		2203	4300	6503	SO:0001583	missense	54556				histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding	g.chr7:120608099G>C	AF074968	CCDS5778.1, CCDS35497.1	7q31	2013-01-28			ENSG00000071243	ENSG00000071243		"""Zinc fingers, PHD-type"""	14587	protein-coding gene	gene with protein product		607493				12080476	Standard	NM_019071		Approved	p47ING3, FLJ20089, Eaf4, MEAF4	uc003vjn.3	Q9NXR8	OTTHUMG00000141270	ENST00000315870.5:c.668G>C	7.37:g.120608099G>C	ENSP00000320566:p.Gly223Ala					ING3_uc003vjo.2_5'UTR|ING3_uc003vjp.2_Missense_Mutation_p.G223A|ING3_uc011kns.1_Missense_Mutation_p.G208A	p.G223A	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN			8	802	+	all_neural(327;0.117)		223					A8K790|O60394|Q567P3|Q6GMT3|Q7Z762|Q969G0|Q96DT4|Q9HC99|Q9P081	Missense_Mutation	SNP	ENST00000315870.5	37	c.668G>C	CCDS5778.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951731	0.73787	.	.	ENSG00000071243	ENST00000315870;ENST00000431467	T;T	0.39787	1.06;1.06	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.61489	0.2351	M	0.68317	2.08	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.987	T	0.53121	-0.8483	10	0.07644	T	0.81	-15.5613	20.2361	0.98357	0.0:0.0:1.0:0.0	.	223;223	Q5GRH6;Q9NXR8	.;ING3_HUMAN	A	223;208	ENSP00000320566:G223A;ENSP00000388506:G208A	ENSP00000320566:G223A	G	+	2	0	ING3	120395335	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.827000	0.99397	2.791000	0.96007	0.591000	0.81541	GGG		0.433	ING3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280453.2	NM_019071		24	66	0	0	0	0.00278	0	24	66				
PTPRZ1	5803	broad.mit.edu	37	7	121652315	121652315	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:121652315C>A	ENST00000393386.2	+	12	3626	c.3215C>A	c.(3214-3216)cCc>cAc	p.P1072H	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1072					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.P1072H(4)		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						ACAGTCATGCCCAACATGTAT	0.388																																							uc003vjy.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(3214-3216)CCC>CAC		protein tyrosine phosphatase, receptor-type,							110.0	113.0	112.0					7																	121652315		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.chr7:121652315C>A	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.3215C>A	7.37:g.121652315C>A	ENSP00000377047:p.Pro1072His					PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	p.P1072H	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			12	3610	+			1072			Extracellular (Potential).		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.3215C>A	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.417104	0.25552	.	.	ENSG00000106278	ENST00000393386	T	0.49432	0.78	5.68	5.68	0.88126	.	0.080799	0.53938	D	0.000054	T	0.49508	0.1561	M	0.65975	2.015	0.80722	D	1	B	0.15473	0.013	B	0.12156	0.007	T	0.45600	-0.9250	10	0.54805	T	0.06	.	16.0731	0.80948	0.1345:0.8655:0.0:0.0	.	1072	P23471	PTPRZ_HUMAN	H	1072	ENSP00000377047:P1072H	ENSP00000377047:P1072H	P	+	2	0	PTPRZ1	121439551	0.968000	0.33430	0.284000	0.24805	0.886000	0.51366	2.005000	0.40864	2.672000	0.90937	0.650000	0.86243	CCC		0.388	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		29	105	1	0	4.43304e-23	0.00632	7.56111e-23	29	105				
GRM8	2918	broad.mit.edu	37	7	126173167	126173167	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:126173167T>C	ENST00000339582.2	-	9	3077	c.2269A>G	c.(2269-2271)Atc>Gtc	p.I757V	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.I757V|GRM8_ENST00000358373.3_Missense_Mutation_p.I757V			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	757					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.I757V(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				ATCAAGAGGATACTGTATCCA	0.443										HNSCC(24;0.065)																													uc003vlr.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(2269-2271)ATC>GTC		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						130.0	113.0	118.0					7																	126173167		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173167T>C		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2269A>G	7.37:g.126173167T>C	ENSP00000344173:p.Ile757Val	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.I757V|GRM8_uc010lkz.1_RNA	p.I757V	NM_000845	NP_000836	O00222	GRM8_HUMAN			8	2580	-		Prostate(267;0.186)	757			Helical; Name=5; (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.2269A>G	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	T	8.526	0.869951	0.17322	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.88201	-2.35;-2.35;-2.35	5.61	5.61	0.85477	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.87573	0.6211	L	0.39514	1.22	0.80722	D	1	D;B	0.56968	0.978;0.095	P;B	0.52309	0.695;0.088	D	0.84504	0.0618	10	0.10636	T	0.68	.	14.9887	0.71368	0.0:0.0:0.0:1.0	.	757;757	O00222-2;O00222	.;GRM8_HUMAN	V	757	ENSP00000344173:I757V;ENSP00000409790:I757V;ENSP00000351142:I757V	ENSP00000344173:I757V	I	-	1	0	GRM8	125960403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.147000	0.66899	0.533000	0.62120	ATC		0.443	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			15	59	0	0	0	0.00245	0	15	59				
PLXNA4	91584	broad.mit.edu	37	7	131864655	131864655	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:131864655G>T	ENST00000359827.3	-	20	4627	c.3665C>A	c.(3664-3666)tCc>tAc	p.S1222Y	PLXNA4_ENST00000321063.4_Missense_Mutation_p.S1222Y			Q9HCM2	PLXA4_HUMAN	plexin A4	1222	IPT/TIG 4.				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.S1222Y(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CATCCCCGGGGAGTACTCCAT	0.647																																							uc003vra.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(3664-3666)TCC>TAC		plexin A4 isoform 1							15.0	18.0	17.0					7																	131864655		2131	4239	6370	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131864655G>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.3665C>A	7.37:g.131864655G>T	ENSP00000352882:p.Ser1222Tyr						p.S1222Y	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			20	3894	-			1222			IPT/TIG 4.|Extracellular (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.3665C>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582314	0.86748	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.59772	0.24;0.24	4.92	4.92	0.64577	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.101588	0.64402	D	0.000001	T	0.75722	0.3888	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71800	-0.4483	10	0.14252	T	0.57	.	18.3041	0.90175	0.0:0.0:1.0:0.0	.	1222	Q9HCM2	PLXA4_HUMAN	Y	1222	ENSP00000323194:S1222Y;ENSP00000352882:S1222Y	ENSP00000323194:S1222Y	S	-	2	0	PLXNA4	131515195	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.623000	0.98386	2.582000	0.87167	0.484000	0.47621	TCC		0.647	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		8	21	1	0	3.09899e-07	0.004482	3.51873e-07	8	21				
PLXNA4	91584	broad.mit.edu	37	7	132192299	132192299	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:132192299C>A	ENST00000359827.3	-	2	2116	c.1154G>T	c.(1153-1155)tGg>tTg	p.W385L	PLXNA4_ENST00000321063.4_Missense_Mutation_p.W385L|PLXNA4_ENST00000423507.2_Missense_Mutation_p.W385L|PLXNA4_ENST00000378539.5_Missense_Mutation_p.W385L			Q9HCM2	PLXA4_HUMAN	plexin A4	385	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.W385L(8)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CACCTTGAGCCAGGCCAGGTC	0.602																																							uc003vra.3		NA																	8	Substitution - Missense(8)		lung(8)	ovary(1)	1						c.(1153-1155)TGG>TTG		plexin A4 isoform 1							57.0	46.0	50.0					7																	132192299		2203	4300	6503	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:132192299C>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.1154G>T	7.37:g.132192299C>A	ENSP00000352882:p.Trp385Leu					PLXNA4_uc003vrc.2_Missense_Mutation_p.W385L|PLXNA4_uc003vrb.2_Missense_Mutation_p.W385L	p.W385L	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			2	1383	-			385			Extracellular (Potential).|Sema.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.1154G>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706742	0.89018	.	.	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.09350	2.99;2.99;2.99;2.99	5.96	5.96	0.96718	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.64402	U	0.000006	T	0.37404	0.1002	M	0.77820	2.39	0.80722	D	1	D;D;D	0.89917	0.997;0.997;1.0	D;D;D	0.97110	0.922;0.966;1.0	T	0.01074	-1.1460	10	0.37606	T	0.19	.	20.4123	0.99019	0.0:1.0:0.0:0.0	.	385;385;385	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	L	385	ENSP00000323194:W385L;ENSP00000352882:W385L;ENSP00000392772:W385L;ENSP00000367800:W385L	ENSP00000323194:W385L	W	-	2	0	PLXNA4	131842839	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.814000	0.86154	2.824000	0.97209	0.655000	0.94253	TGG		0.602	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		23	96	1	0	1.96895e-08	0.00278	2.31572e-08	23	96				
CALD1	800	broad.mit.edu	37	7	134552466	134552466	+	5'UTR	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:134552466C>A	ENST00000361675.2	+	0	211				CALD1_ENST00000361388.2_5'UTR|CALD1_ENST00000361901.2_5'UTR|CALD1_ENST00000422748.1_5'UTR|CALD1_ENST00000417172.1_5'UTR			Q05682	CALD1_HUMAN	caldesmon 1						cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						TCTGGTCTCCCTGAACCTGAA	0.458																																							uc003vrz.2		NA																	0					0						c.(-20--16)CCCTG>CCATG		caldesmon 1 isoform 1							62.0	58.0	60.0					7																	134552466		2203	4300	6503	SO:0001623	5_prime_UTR_variant	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134552466C>A	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.-19C>A	7.37:g.134552466C>A						CALD1_uc003vry.2_Translation_Start_Site|CALD1_uc003vsa.2_Translation_Start_Site|CALD1_uc003vsb.2_Translation_Start_Site|CALD1_uc010lmm.2_Translation_Start_Site|CALD1_uc011kpt.1_Translation_Start_Site		NM_033138	NP_149129	Q05682	CALD1_HUMAN			3	441	+								A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Translation_Start_Site	SNP	ENST00000361675.2	37	c.-18C>A	CCDS5835.1																																																																																				0.458	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		6	34	1	0	3.59834e-05	0.001168	3.8949e-05	6	34				
DGKI	9162	broad.mit.edu	37	7	137151659	137151659	+	Splice_Site	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:137151659C>T	ENST00000288490.5	-	26	2498		c.e26-1		DGKI_ENST00000453654.2_Missense_Mutation_p.D543N|DGKI_ENST00000424189.2_Missense_Mutation_p.D846N|DGKI_ENST00000446122.1_Splice_Site	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota						blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.?(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TGAGATCTGTCTATTCGATAA	0.358																																							uc003vtt.2		NA																	2	Unknown(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.e26-1		diacylglycerol kinase, iota							70.0	70.0	70.0					7																	137151659		2203	4300	6503	SO:0001630	splice_region_variant	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137151659C>T	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2498-1G>A	7.37:g.137151659C>T						DGKI_uc003vtu.2_Missense_Mutation_p.D543N	p.D833_splice	NM_004717	NP_004708	O75912	DGKI_HUMAN			26	2499	-								A4D1Q9|Q9NZ49	Splice_Site	SNP	ENST00000288490.5	37	c.2498_splice	CCDS5845.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.6|24.6	4.544995|4.544995	0.86022|0.86022	.|.	.|.	ENSG00000157680|ENSG00000157680	ENST00000424189;ENST00000288490;ENST00000446122|ENST00000453654;ENST00000540376	.|T	.|0.41400	.|1.0	6.05|6.05	6.05|6.05	0.98169|0.98169	.|.	.|.	.|.	.|.	.|.	.|T	.|0.57315	.|0.2045	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|P	.|0.49862	.|0.929	.|P	.|0.52109	.|0.69	.|T	.|0.58312	.|-0.7658	.|8	.|0.87932	.|D	.|0	.|.	18.7818|18.7818	0.91937|0.91937	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|543	.|E9PFX6	.|.	.|N	-1|543;791	.|ENSP00000392161:D543N	.|ENSP00000392161:D543N	.|D	-|-	.|1	.|0	DGKI|DGKI	136802199|136802199	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.445000|6.445000	0.73456|0.73456	2.878000|2.878000	0.98634|0.98634	0.650000|0.650000	0.86243|0.86243	.|GAC		0.358	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717	Intron	9	62	0	0	0	0.006214	0	9	62				
DGKI	9162	broad.mit.edu	37	7	137172361	137172361	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:137172361G>A	ENST00000288490.5	-	23	2377	c.2377C>T	c.(2377-2379)Cag>Tag	p.Q793*	DGKI_ENST00000453654.2_Nonsense_Mutation_p.Q493*|DGKI_ENST00000424189.2_Nonsense_Mutation_p.Q796*|DGKI_ENST00000446122.1_Nonsense_Mutation_p.Q775*	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	793					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.Q793*(4)|p.Q793E(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTCACCTCCTGTAGGCGGTCT	0.388																																							uc003vtt.2		NA																	6	Substitution - Nonsense(4)|Substitution - Missense(2)		lung(6)	ovary(1)|kidney(1)|skin(1)	3						c.(2377-2379)CAG>TAG		diacylglycerol kinase, iota							146.0	151.0	150.0					7																	137172361		2203	4300	6503	SO:0001587	stop_gained	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137172361G>A	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2377C>T	7.37:g.137172361G>A	ENSP00000288490:p.Gln793*					DGKI_uc003vtu.2_Nonsense_Mutation_p.Q493*	p.Q793*	NM_004717	NP_004708	O75912	DGKI_HUMAN			23	2378	-			793					A4D1Q9|Q9NZ49	Nonsense_Mutation	SNP	ENST00000288490.5	37	c.2377C>T	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	G	42	9.501917	0.99189	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	.	.	.	5.9	5.9	0.94986	.	0.108318	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	15.2326	0.73404	0.0:0.1411:0.8589:0.0	.	.	.	.	X	493;741;796;793;775	.	ENSP00000288490:Q793X	Q	-	1	0	DGKI	136822901	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	4.651000	0.61447	2.808000	0.96608	0.650000	0.86243	CAG		0.388	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		41	192	0	0	0	0.00361	0	41	192				
ZC3HAV1	56829	broad.mit.edu	37	7	138768597	138768597	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:138768597G>A	ENST00000242351.5	-	3	942	c.626C>T	c.(625-627)cCc>cTc	p.P209L	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.P209L|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.P209L	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	209	N-terminal domain.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.P209L(2)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GACCACGTCGGGGTTCAGCCC	0.547																																							uc003vun.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(625-627)CCC>CTC		zinc finger antiviral protein isoform 1							104.0	85.0	91.0					7																	138768597		2203	4300	6503	SO:0001583	missense	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138768597G>A	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.626C>T	7.37:g.138768597G>A	ENSP00000242351:p.Pro209Leu					ZC3HAV1_uc003vup.2_Missense_Mutation_p.P209L	p.P209L	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN			3	1014	-			209					A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	ENST00000242351.5	37	c.626C>T	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	G	6.826	0.521479	0.13005	.	.	ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652	T;T;T	0.28454	1.61;1.61;1.61	4.77	-1.39	0.08997	.	1.815930	0.02432	N	0.083713	T	0.22044	0.0531	L	0.34521	1.04	0.09310	N	1	B;B	0.24823	0.112;0.01	B;B	0.27380	0.079;0.005	T	0.13282	-1.0515	10	0.32370	T	0.25	.	2.1408	0.03775	0.111:0.1546:0.2602:0.4742	.	209;209	Q7Z2W4-2;Q7Z2W4	.;ZCCHV_HUMAN	L	209	ENSP00000242351:P209L;ENSP00000418385:P209L;ENSP00000419855:P209L	ENSP00000242351:P209L	P	-	2	0	ZC3HAV1	138419137	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.466000	0.02355	-0.055000	0.13244	0.655000	0.94253	CCC		0.547	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		32	88	0	0	0	0.008361	0	32	88				
EPHB6	2051	broad.mit.edu	37	7	142566456	142566456	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:142566456G>T	ENST00000392957.2	+	15	3032	c.2245G>T	c.(2245-2247)Gag>Tag	p.E749*	EPHB6_ENST00000442129.1_Nonsense_Mutation_p.E749*|EPHB6_ENST00000411471.2_Nonsense_Mutation_p.E472*	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	749	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)	p.E734*(2)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGTGCTGACGGAGTTCATGGA	0.647																																							uc011kst.1		NA																	2	Substitution - Nonsense(2)		lung(2)	lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19						c.(2245-2247)GAG>TAG		ephrin receptor EphB6 precursor							46.0	51.0	49.0					7																	142566456		2203	4300	6503	SO:0001587	stop_gained	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142566456G>T	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.2245G>T	7.37:g.142566456G>T	ENSP00000376684:p.Glu749*					EPHB6_uc011ksu.1_Nonsense_Mutation_p.E749*|EPHB6_uc003wbs.2_Nonsense_Mutation_p.E457*|EPHB6_uc003wbt.2_Nonsense_Mutation_p.E223*|EPHB6_uc003wbu.2_Nonsense_Mutation_p.E457*|EPHB6_uc003wbv.2_Nonsense_Mutation_p.E133*	p.E749*	NM_004445	NP_004436	O15197	EPHB6_HUMAN			15	3032	+	Melanoma(164;0.059)		749			Cytoplasmic (Potential).|Protein kinase.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Nonsense_Mutation	SNP	ENST00000392957.2	37	c.2245G>T	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	47	13.585750	0.99751	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	.	.	.	5.12	5.12	0.69794	.	0.000000	0.45606	D	0.000343	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.5348	0.87827	0.0:0.0:1.0:0.0	.	.	.	.	X	749;749;472	.	ENSP00000376684:E749X	E	+	1	0	EPHB6	142276578	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	9.815000	0.99349	2.391000	0.81399	0.462000	0.41574	GAG		0.647	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			23	76	1	0	1.85244e-09	0.00333	2.26314e-09	23	76				
TAS2R60	338398	broad.mit.edu	37	7	143141256	143141256	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:143141256C>G	ENST00000332690.1	+	1	711	c.711C>G	c.(709-711)ccC>ccG	p.P237P	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	237					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P237P(2)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCCGAGAGCCCAGTGTGCAGG	0.483																																							uc011ktg.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(6)	6						c.(709-711)CCC>CCG		taste receptor, type 2, member 60							120.0	125.0	123.0					7																	143141256		2203	4300	6503	SO:0001819	synonymous_variant	338398				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143141256C>G	AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.711C>G	7.37:g.143141256C>G						uc003wda.2_Intron	p.P237P	NM_177437	NP_803186	P59551	T2R60_HUMAN			1	711	+	Melanoma(164;0.172)		237			Helical; Name=6; (Potential).		A4D2G8|Q645W8|Q7RTR7	Silent	SNP	ENST00000332690.1	37	c.711C>G	CCDS5885.1																																																																																				0.483	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1			53	158	0	0	0	0.00361	0	53	158				
ZNF282	8427	broad.mit.edu	37	7	148921335	148921335	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:148921335C>T	ENST00000262085.3	+	8	1717	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	ZNF282_ENST00000479907.1_Intron	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	538					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.R538C(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CATCCACCACCGCAGCCACAC	0.682																																							uc003wfm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1612-1614)CGC>TGC		zinc finger protein 282							28.0	27.0	27.0					7																	148921335		2202	4300	6502	SO:0001583	missense	8427				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148921335C>T	D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"""Zinc fingers, C2H2-type"", ""-"""	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.1612C>T	7.37:g.148921335C>T	ENSP00000262085:p.Arg538Cys					ZNF282_uc011kun.1_Intron|ZNF282_uc003wfo.2_Silent_p.T214T	p.R538C	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)	8	1717	+	Melanoma(164;0.15)		538			C2H2-type 1.		B4DRI5|O43691|Q6DKK0	Missense_Mutation	SNP	ENST00000262085.3	37	c.1612C>T	CCDS5895.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102919	0.37145	.	.	ENSG00000170265	ENST00000430197;ENST00000262085	T	0.25749	1.78	4.28	3.38	0.38709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000117	T	0.51601	0.1684	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.54622	-0.8266	10	0.87932	D	0	-21.0249	7.1891	0.25816	0.196:0.6142:0.1898:0.0	.	538	Q9UDV7	ZN282_HUMAN	C	191;538	ENSP00000262085:R538C	ENSP00000262085:R538C	R	+	1	0	ZNF282	148552268	0.973000	0.33851	0.999000	0.59377	0.020000	0.10135	1.793000	0.38764	0.997000	0.38969	-0.305000	0.09177	CGC		0.682	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	NM_003575		11	30	0	0	0	0.000978	0	11	30				
SSPO	23145	broad.mit.edu	37	7	149486458	149486458	+	RNA	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:149486458G>T	ENST00000378016.2	+	0	4434							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGACTGTCTGGATGCCGCCG	0.687																																							uc010lpk.2		NA																	0					0						c.(4432-4434)CTG>CTT		SCO-spondin precursor							17.0	20.0	19.0					7																	149486458		2190	4287	6477			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149486458G>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149486458G>T							p.L1478L	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		30	4434	+	Melanoma(164;0.165)|Ovarian(565;0.177)		1478			LDL-receptor class A 3.		Q76B61	Silent	SNP	ENST00000378016.2	37	c.4434G>T																																																																																					0.687	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				6	30	1	0	5.18039e-06	0.00308	5.7495e-06	6	30				
GIMAP8	155038	broad.mit.edu	37	7	150174417	150174417	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:150174417G>T	ENST00000307271.3	+	5	2121	c.1547G>T	c.(1546-1548)cGc>cTc	p.R516L		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	516	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.R516L(2)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GAGGTCAAGCGCTGTTTGTCC	0.522																																							uc003whj.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(1546-1548)CGC>CTC		GTPase, IMAP family member 8							81.0	72.0	75.0					7																	150174417		2203	4300	6503	SO:0001583	missense	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150174417G>T	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1547G>T	7.37:g.150174417G>T	ENSP00000305107:p.Arg516Leu						p.R516L	NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	5	1877	+			516						Missense_Mutation	SNP	ENST00000307271.3	37	c.1547G>T	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863517	0.51482	.	.	ENSG00000171115	ENST00000307271	T	0.07114	3.22	4.44	-1.86	0.07760	AIG1 (1);	1.128570	0.06780	N	0.785087	T	0.19644	0.0472	M	0.67517	2.055	0.09310	N	1	D	0.60575	0.988	P	0.58721	0.844	T	0.26780	-1.0093	10	0.42905	T	0.14	.	8.7694	0.34722	0.587:0.0:0.413:0.0	.	516	Q8ND71	GIMA8_HUMAN	L	516	ENSP00000305107:R516L	ENSP00000305107:R516L	R	+	2	0	GIMAP8	149805350	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.437000	0.06914	-0.670000	0.05282	0.655000	0.94253	CGC		0.522	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		29	70	1	0	2.48779e-11	0.005443	3.27276e-11	29	70				
NCAPG2	54892	broad.mit.edu	37	7	158494630	158494630	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:158494630C>A	ENST00000409423.1	-	3	134		c.e3-1		NCAPG2_ENST00000356309.3_Splice_Site|NCAPG2_ENST00000409339.3_Splice_Site|NCAPG2_ENST00000449727.2_Splice_Site	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2						chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TTTTGTAACCCTAATGGAAAA	0.358																																							uc003wnv.1		NA																	0				ovary(1)|breast(1)|kidney(1)	3						c.e2-1		leucine zipper protein 5							68.0	61.0	63.0					7																	158494630		1831	4085	5916	SO:0001630	splice_region_variant	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158494630C>A	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.39-1G>T	7.37:g.158494630C>A						NCAPG2_uc003wnw.1_Splice_Site|NCAPG2_uc003wnx.1_Splice_Site|NCAPG2_uc011kwe.1_Splice_Site		NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	2	107	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)						A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Splice_Site	SNP	ENST00000409423.1	37	c.-38_splice	CCDS43686.1																																																																																				0.358	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760	Intron	18	60	1	0	1.02788e-11	0.00499	1.38221e-11	18	60				
ESYT2	57488	broad.mit.edu	37	7	158531731	158531731	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:158531731C>G	ENST00000251527.5	-	18	2396	c.2331G>C	c.(2329-2331)gtG>gtC	p.V777V	ESYT2_ENST00000435514.2_Silent_p.V212V	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	805					endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)	p.V777V(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CATGCACGACCACGATAAGCT	0.607																																							uc003wob.1		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|kidney(1)	3						c.(2329-2331)GTG>GTC		family with sequence similarity 62 (C2 domain							117.0	97.0	104.0					7																	158531731		2203	4300	6503	SO:0001819	synonymous_variant	57488					integral to membrane|plasma membrane		g.chr7:158531731C>G	AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"""Synaptotagmins"""	22211	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member B"""	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.2331G>C	7.37:g.158531731C>G						ESYT2_uc003wny.1_RNA|ESYT2_uc003wnz.1_Silent_p.V216V|ESYT2_uc003woa.1_Silent_p.V354V	p.V777V	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN			18	2397	-			805			C2 3.		A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Silent	SNP	ENST00000251527.5	37	c.2331G>C	CCDS34791.1	.	.	.	.	.	.	.	.	.	.	C	7.458	0.644073	0.14451	.	.	ENSG00000117868	ENST00000377650	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	T	0.72479	0.3465	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.75988	-0.3123	5	0.87932	D	0	-14.7912	12.3217	0.54989	0.169:0.831:0.0:0.0	.	.	.	.	R	212	.	ENSP00000366878:G212R	G	-	1	0	ESYT2	158224492	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	4.481000	0.60250	2.369000	0.80426	0.462000	0.41574	GGT		0.607	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728		25	112	0	0	0	0.00333	0	25	112				
DLGAP2	9228	broad.mit.edu	37	8	1513999	1513999	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:1513999G>T	ENST00000421627.2	+	3	1275	c.1141G>T	c.(1141-1143)Gca>Tca	p.A381S	RP11-666I19.2_ENST00000518063.1_RNA	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	460					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)		p.A425S(1)|p.A403S(1)		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)		ACCAAAGTCGGCAATCCTACC	0.557																																							uc003wpl.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1141-1143)GCA>TCA		discs large-associated protein 2							40.0	45.0	44.0					8																	1513999		2159	4285	6444	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1513999G>T	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.1141G>T	8.37:g.1513999G>T	ENSP00000400258:p.Ala381Ser					DLGAP2_uc003wpm.2_Missense_Mutation_p.A381S	p.A381S	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	3	1238	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	460					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.1141G>T	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	G	6.605	0.480102	0.12581	.	.	ENSG00000198010	ENST00000356067;ENST00000421627	T	0.13778	2.56	4.55	4.55	0.56014	.	0.440273	0.27491	N	0.019130	T	0.16041	0.0386	L	0.59912	1.85	0.09310	N	1	B;B	0.13145	0.007;0.004	B;B	0.14023	0.01;0.007	T	0.10200	-1.0640	10	0.59425	D	0.04	-3.0894	12.2358	0.54514	0.0:0.0:0.7007:0.2993	.	460;460	Q9P1A6-2;Q9P1A6	.;DLGP2_HUMAN	S	426;381	ENSP00000400258:A381S	ENSP00000348366:A426S	A	+	1	0	DLGAP2	1501406	0.989000	0.36119	0.058000	0.19502	0.050000	0.14768	0.330000	0.19715	2.238000	0.73509	0.585000	0.79938	GCA		0.557	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		9	13	1	0	1.76689e-08	0.006214	2.0843e-08	9	13				
CSMD1	64478	broad.mit.edu	37	8	2808659	2808659	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:2808659G>T	ENST00000520002.1	-	67	10736	c.10181C>A	c.(10180-10182)tCg>tAg	p.S3394*	CSMD1_ENST00000537824.1_Nonsense_Mutation_p.S3393*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.S3217*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.S3217*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.S3216*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.S3394*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3394						integral component of membrane (GO:0016021)		p.S3122*(2)|p.S3393*(2)		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)		CTCCACTGGCGAGGCTTCGCT	0.458																																							uc011kwk.1		NA																	4	Substitution - Nonsense(4)		lung(4)	breast(20)|large_intestine(5)	25						c.(10180-10182)TCG>TAG		CUB and Sushi multiple domains 1 precursor							90.0	86.0	87.0					8																	2808659		1939	4140	6079	SO:0001587	stop_gained	64478					integral to membrane		g.chr8:2808659G>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.10181C>A	8.37:g.2808659G>T	ENSP00000430733:p.Ser3394*					CSMD1_uc011kwj.1_Nonsense_Mutation_p.S2708*|CSMD1_uc010lrg.2_Nonsense_Mutation_p.S1285*	p.S3394*	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)	66	10571	-		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)	3394			Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	ENST00000520002.1	37	c.10181C>A		.	.	.	.	.	.	.	.	.	.	G	50	16.604438	0.99867	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.	.	.	5.2	5.2	0.72013	.	0.424952	0.24375	N	0.039073	.	.	.	.	.	.	0.51233	D	0.999918	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.9067	0.86130	0.0:0.0:1.0:0.0	.	.	.	.	X	3217;3394;3255;3393;3216	.	ENSP00000320445:S3255X	S	-	2	0	CSMD1	2796066	0.791000	0.28800	0.004000	0.12327	0.003000	0.03518	4.340000	0.59328	2.401000	0.81631	0.637000	0.83480	TCG		0.458	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		7	36	1	0	1.08611e-07	0.000978	1.25308e-07	7	36				
FGF20	26281	broad.mit.edu	37	8	16850805	16850805	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:16850805T>A	ENST00000180166.5	-	3	560	c.412A>T	c.(412-414)Atc>Ttc	p.I138F		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	138					cell-cell signaling (GO:0007267)|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)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of cardiac muscle cell proliferation (GO:0060043)|signal transduction (GO:0007165)	extracellular region (GO:0005576)		p.I138F(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TCCCTAAAGATGCATTCGGAA	0.328																																							uc003wxc.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(412-414)ATC>TTC		fibroblast growth factor 20							127.0	131.0	130.0					8																	16850805		2203	4300	6503	SO:0001583	missense	26281				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity	g.chr8:16850805T>A	AB030648	CCDS5998.1	8p22	2008-05-15			ENSG00000078579	ENSG00000078579			3677	protein-coding gene	gene with protein product		605558				10913340	Standard	NM_019851		Approved		uc003wxc.1	Q9NP95	OTTHUMG00000096964	ENST00000180166.5:c.412A>T	8.37:g.16850805T>A	ENSP00000180166:p.Ile138Phe					FGF20_uc010lsv.1_RNA|FGF20_uc010lsw.1_Missense_Mutation_p.H103L	p.I138F	NM_019851	NP_062825	Q9NP95	FGF20_HUMAN		Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	3	545	-			138					B2RPH5	Missense_Mutation	SNP	ENST00000180166.5	37	c.412A>T	CCDS5998.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.49|17.49	3.402550|3.402550	0.62288|0.62288	.|.	.|.	ENSG00000078579|ENSG00000078579	ENST00000519941|ENST00000180166	.|T	.|0.66995	.|-0.24	5.85|5.85	3.25|3.25	0.37280|0.37280	.|.	.|0.051519	.|0.85682	.|D	.|0.000000	T|T	0.47414|0.47414	0.1444|0.1444	N|N	0.25647|0.25647	0.755|0.755	0.52501|0.52501	D|D	0.999954|0.999954	.|P	.|0.43701	.|0.815	.|B	.|0.40375	.|0.327	T|T	0.36866|0.36866	-0.9730|-0.9730	5|10	.|0.10377	.|T	.|0.69	.|.	8.9541|8.9541	0.35807|0.35807	0.0:0.2315:0.0:0.7685|0.0:0.2315:0.0:0.7685	.|.	.|138	.|Q9NP95	.|FGF20_HUMAN	L|F	39|138	.|ENSP00000180166:I138F	.|ENSP00000180166:I138F	H|I	-|-	2|1	0|0	FGF20|FGF20	16895176|16895176	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.880000|2.880000	0.48530|0.48530	1.158000|1.158000	0.42547|0.42547	0.533000|0.533000	0.62120|0.62120	CAT|ATC		0.328	FGF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214030.1			16	221	0	0	0	0.003163	0	16	221				
DOK2	9046	broad.mit.edu	37	8	21768283	21768283	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:21768283C>G	ENST00000276420.4	-	4	777	c.519G>C	c.(517-519)cgG>cgC	p.R173R	DOK2_ENST00000544659.1_Silent_p.R19R	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	173	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	receptor signaling protein activity (GO:0005057)	p.R173R(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TCTCCCCAGCCCGGAGGGTAT	0.642																																							uc003wzy.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(517-519)CGG>CGC		docking protein 2							31.0	35.0	33.0					8																	21768283		2203	4300	6503	SO:0001819	synonymous_variant	9046				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	g.chr8:21768283C>G	AF034970	CCDS6016.1	8p21.3	2008-08-07	2002-08-29		ENSG00000147443	ENSG00000147443			2991	protein-coding gene	gene with protein product		604997	"""docking protein 2, 56kD"""			9478921, 14645010	Standard	NM_003974		Approved	p56dok-2, Dok-2	uc003wzy.1	O60496	OTTHUMG00000131075	ENST00000276420.4:c.519G>C	8.37:g.21768283C>G						DOK2_uc003wzx.1_Silent_p.R173R|DOK2_uc003wzz.1_Silent_p.R19R|DOK2_uc010lth.1_Silent_p.R19R	p.R173R	NM_003974	NP_003965	O60496	DOK2_HUMAN		Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	4	612	-			173			IRS-type PTB.		Q8N5A4	Silent	SNP	ENST00000276420.4	37	c.519G>C	CCDS6016.1																																																																																				0.642	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253735.3	NM_003974		9	22	0	0	0	0.004482	0	9	22				
ADRA1A	148	broad.mit.edu	37	8	26721658	26721658	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:26721658C>G	ENST00000519229.1	-	1	835	c.829G>C	c.(829-831)Gtg>Ctg	p.V277L	ADRA1A_ENST00000354550.4_Missense_Mutation_p.V277L|ADRA1A_ENST00000380573.3_Missense_Mutation_p.V277L|ADRA1A_ENST00000380581.2_Missense_Mutation_p.V277L|ADRA1A_ENST00000380587.1_Missense_Mutation_p.V277L|ADRA1A_ENST00000358857.5_Missense_Mutation_p.V277L|ADRA1A_ENST00000380586.1_Missense_Mutation_p.V277L|ADRA1A_ENST00000276393.4_Missense_Mutation_p.V277L|ADRA1A_ENST00000380582.3_Missense_Mutation_p.V277L|ADRA1A_ENST00000380572.3_Missense_Mutation_p.V277L			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	353					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.V277L(10)		breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	CAGCCGACCACGATGCCCAGC	0.572																																							uc003xfh.1		NA																	10	Substitution - Missense(10)		lung(10)	breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(829-831)GTG>CTG		alpha-1A-adrenergic receptor isoform 1	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)						50.0	44.0	46.0					8																	26721658		2203	4300	6503	SO:0001583	missense	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26721658C>G	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.829G>C	8.37:g.26721658C>G	ENSP00000430793:p.Val277Leu					ADRA1A_uc003xfc.1_Missense_Mutation_p.V277L|ADRA1A_uc010lul.1_Missense_Mutation_p.V277L|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Missense_Mutation_p.V277L|ADRA1A_uc010lum.1_Missense_Mutation_p.V277L|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Missense_Mutation_p.V277L	p.V277L	NM_000680	NP_000671	P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	1	1265	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	277			Helical; Name=6; (By similarity).		Q9NPY0	Missense_Mutation	SNP	ENST00000519229.1	37	c.829G>C		.	.	.	.	.	.	.	.	.	.	C	25.5	4.645467	0.87859	.	.	ENSG00000120907	ENST00000380586;ENST00000380587;ENST00000380582;ENST00000380581;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573;ENST00000380572;ENST00000358857	T;T;T;T;T;T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.82953	0.5149	M	0.65320	2	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.997;1.0;0.999;0.998;0.999	D;D;D;D;D;D	0.79784	0.982;0.973;0.993;0.988;0.988;0.993	D	0.84424	0.0573	10	0.87932	D	0	.	18.8714	0.92317	0.0:1.0:0.0:0.0	.	277;277;277;277;277;277	P35348-9;P35348-8;P35348;P35348-4;P35348-3;B0ZBD3	.;.;ADA1A_HUMAN;.;.;.	L	277	ENSP00000369960:V277L;ENSP00000369961:V277L;ENSP00000369956:V277L;ENSP00000369955:V277L;ENSP00000430793:V277L;ENSP00000346557:V277L;ENSP00000276393:V277L;ENSP00000369947:V277L;ENSP00000369946:V277L;ENSP00000351725:V277L	ENSP00000276393:V277L	V	-	1	0	ADRA1A	26777575	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.604000	0.88044	0.563000	0.77884	GTG		0.572	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303		14	31	0	0	0	0.004007	0	14	31				
CSPP1	79848	broad.mit.edu	37	8	68030483	68030483	+	Splice_Site	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:68030483G>C	ENST00000262210.5	+	12	1513	c.1482G>C	c.(1480-1482)agG>agC	p.R494S	CSPP1_ENST00000412460.1_Splice_Site_p.R200S	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	529	Pro-rich.				positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.R494S(2)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TTTCATACAGGATTGCACCTC	0.353																																							uc003xxi.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)	5						c.(1585-1587)AGG>AGC		centrosome spindle pole associated protein 1							156.0	145.0	149.0					8																	68030483		1897	4114	6011	SO:0001630	splice_region_variant	79848					centrosome|microtubule|spindle		g.chr8:68030483G>C	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1482-1G>C	8.37:g.68030483G>C						CSPP1_uc003xxg.1_Missense_Mutation_p.R521S|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.R494S|CSPP1_uc003xxk.2_Missense_Mutation_p.R200S	p.R529S	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		14	1618	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	529			Pro-rich.		A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.1587G>C	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.433646	0.43224	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.52295	0.68;0.67;0.67	5.48	0.476	0.16779	.	0.000000	0.64402	D	0.000001	T	0.56863	0.2014	M	0.61703	1.905	0.38965	D	0.958635	D;D;D;D	0.89917	1.0;1.0;0.989;0.989	D;D;D;D	0.85130	0.996;0.997;0.985;0.985	T	0.54344	-0.8308	9	.	.	.	.	5.1351	0.14930	0.4367:0.1422:0.4211:0.0	.	200;494;529;529	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	S	494;529;200;200	ENSP00000262210:R494S;ENSP00000415782:R200S;ENSP00000430092:R200S	.	R	+	3	2	CSPP1	68193037	0.378000	0.25114	0.851000	0.33527	0.128000	0.20619	0.179000	0.16840	0.081000	0.16988	0.650000	0.86243	AGG		0.353	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790	Missense_Mutation	53	128	0	0	0	0.00361	0	53	128				
PRDM14	63978	broad.mit.edu	37	8	70981552	70981552	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:70981552G>T	ENST00000276594.2	-	2	745	c.544C>A	c.(544-546)Ccc>Acc	p.P182T		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	182					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|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.P182T(2)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GAGGGTTTGGGACCATCCTCT	0.577																																					NSCLC(129;99 1813 5906 40656 46114)	NSCLC(129;99 1813 5906 40656 46114)	uc003xym.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(544-546)CCC>ACC		PR domain containing 14							79.0	80.0	80.0					8																	70981552		2203	4300	6503	SO:0001583	missense	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70981552G>T	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.544C>A	8.37:g.70981552G>T	ENSP00000276594:p.Pro182Thr						p.P182T	NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		2	746	-	Breast(64;0.193)		182					Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	c.544C>A	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.612513	0.28712	.	.	ENSG00000147596	ENST00000276594	T	0.12361	2.69	4.44	0.352	0.16051	.	0.594108	0.16457	N	0.213598	T	0.08846	0.0219	L	0.32530	0.975	0.09310	N	1	B	0.30793	0.295	B	0.28709	0.093	T	0.23332	-1.0191	10	0.62326	D	0.03	-6.6594	4.8751	0.13653	0.2933:0.1553:0.5513:0.0	.	182	Q9GZV8	PRD14_HUMAN	T	182	ENSP00000276594:P182T	ENSP00000276594:P182T	P	-	1	0	PRDM14	71144106	0.521000	0.26258	0.001000	0.08648	0.002000	0.02628	1.415000	0.34748	-0.129000	0.11620	-0.140000	0.14226	CCC		0.577	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			33	68	1	0	3.80469e-20	0.009535	6.20724e-20	33	68				
TRPA1	8989	broad.mit.edu	37	8	72968044	72968044	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:72968044C>G	ENST00000262209.4	-	11	1448	c.1241G>C	c.(1240-1242)tGt>tCt	p.C414S	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	414					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.C414S(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TAGAGGAGTACACCCATCGTT	0.363																																							uc003xza.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(1)|kidney(1)	6						c.(1240-1242)TGT>TCT		ankyrin-like protein 1	Menthol(DB00825)						45.0	49.0	48.0					8																	72968044		2203	4296	6499	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72968044C>G	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1241G>C	8.37:g.72968044C>G	ENSP00000262209:p.Cys414Ser						p.C414S	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		11	1416	-			414			ANK 10.|Cytoplasmic (Potential).		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.1241G>C	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203936	0.79127	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.70631	-0.5;-0.5	5.1	5.1	0.69264	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.75664	0.3880	L	0.28054	0.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71702	-0.4513	10	0.22109	T	0.4	-15.5316	18.8547	0.92247	0.0:1.0:0.0:0.0	.	414	O75762	TRPA1_HUMAN	S	266;414	ENSP00000428151:C266S;ENSP00000262209:C414S	ENSP00000262209:C414S	C	-	2	0	TRPA1	73130598	1.000000	0.71417	0.886000	0.34754	0.972000	0.66771	6.653000	0.74382	2.521000	0.84997	0.650000	0.86243	TGT		0.363	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		10	64	0	0	0	0.00245	0	10	64				
ZFHX4	79776	broad.mit.edu	37	8	77763833	77763833	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:77763833A>T	ENST00000521891.2	+	10	5124	c.4676A>T	c.(4675-4677)cAc>cTc	p.H1559L	ZFHX4_ENST00000455469.2_Missense_Mutation_p.H1514L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H1533L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H1514L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1514					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.H1559L(2)		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)			CTCTTGGTCCACTATAATTCA	0.408										HNSCC(33;0.089)																													uc003yav.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(4540-4542)CAC>CTC		zinc finger homeodomain 4							42.0	40.0	41.0					8																	77763833		1901	4115	6016	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77763833A>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.4676A>T	8.37:g.77763833A>T	ENSP00000430497:p.His1559Leu	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.H1559L|ZFHX4_uc003yaw.1_Missense_Mutation_p.H1514L	p.H1514L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	4928	+			1514			C2H2-type 12.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.4541A>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	14.28	2.487623	0.44249	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	4.9	4.9	0.64082	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	U	0.000343	T	0.66636	0.2809	M	0.67700	2.07	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.83275	0.987;0.996;0.994	T	0.70824	-0.4767	10	0.87932	D	0	.	14.6814	0.69020	1.0:0.0:0.0:0.0	.	1514;1514;1559	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	L	1559;1559;1514;1514;1533	ENSP00000430497:H1559L;ENSP00000399605:H1514L;ENSP00000050961:H1514L;ENSP00000430848:H1533L	ENSP00000050961:H1514L	H	+	2	0	ZFHX4	77926388	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.139000	0.94554	2.061000	0.61500	0.454000	0.30748	CAC		0.408	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		15	43	0	0	0	0.00245	0	15	43				
PAG1	55824	broad.mit.edu	37	8	81905543	81905543	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:81905543C>A	ENST00000220597.4	-	4	631		c.e4-1			NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1						epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GAGCTGTGTCCTGCAAAGAGA	0.572																																							uc003ybz.2		NA																	0					0						c.e4-1		phosphoprotein associated with glycosphingolipid																																				SO:0001630	splice_region_variant	55824				epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity	g.chr8:81905543C>A	AF240634	CCDS6227.1	8q21.13	2014-04-30	2014-04-30						30043	protein-coding gene	gene with protein product	"""Csk-binding protein"", ""transmembrane adaptor protein PAG"""	605767	"""phosphoprotein associated with glycosphingolipid microdomains 1"""			10790433	Standard	XM_006716461		Approved	PAG, CBP	uc003ybz.3	Q9NWQ8		ENST00000220597.4:c.80-1G>T	8.37:g.81905543C>A								NM_018440	NP_060910	Q9NWQ8	PAG1_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)		4	632	-	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)							A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	Splice_Site	SNP	ENST00000220597.4	37	c.-79_splice	CCDS6227.1																																																																																				0.572	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379352.3	NM_018440	Intron	10	18	1	0	7.48243e-07	0.006214	8.41106e-07	10	18				
PSKH2	85481	broad.mit.edu	37	8	87076322	87076322	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:87076322C>A	ENST00000276616.2	-	2	798	c.724G>T	c.(724-726)Gca>Tca	p.A242S	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	242	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A242S(2)		NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			ATGTCCACTGCACTGGTATAA	0.463																																							uc011lfy.1		NA																	2	Substitution - Missense(2)		lung(2)	stomach(2)|lung(2)|ovary(1)	5						c.(724-726)GCA>TCA		protein serine kinase H2							92.0	88.0	89.0					8																	87076322		2203	4300	6503	SO:0001583	missense	85481						ATP binding|protein serine/threonine kinase activity	g.chr8:87076322C>A	AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.724G>T	8.37:g.87076322C>A	ENSP00000276616:p.Ala242Ser						p.A242S	NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	STAD - Stomach adenocarcinoma(118;0.129)		2	724	-			242			Protein kinase.		A0AV22	Missense_Mutation	SNP	ENST00000276616.2	37	c.724G>T	CCDS6240.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.643664	0.47258	.	.	ENSG00000147613	ENST00000276616	T	0.41065	1.01	4.98	4.11	0.48088	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.24851	0.0603	N	0.05534	-0.03	0.32615	N	0.52408	B	0.29085	0.232	B	0.32393	0.145	T	0.31110	-0.9955	9	0.31617	T	0.26	.	11.1669	0.48547	0.0:0.9089:0.0:0.0911	.	242	Q96QS6	KPSH2_HUMAN	S	242	ENSP00000276616:A242S	ENSP00000276616:A242S	A	-	1	0	PSKH2	87145438	1.000000	0.71417	0.836000	0.33094	0.999000	0.98932	3.059000	0.49947	1.076000	0.40961	0.655000	0.94253	GCA		0.463	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374628.1	NM_033126		25	71	1	0	1.42536e-11	0.004656	1.9037e-11	25	71				
DCAF4L2	138009	broad.mit.edu	37	8	88885855	88885855	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:88885855G>T	ENST00000319675.3	-	1	441	c.345C>A	c.(343-345)taC>taA	p.Y115*		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	115								p.Y115*(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTTTGTGCGGGTATACCCGGA	0.552																																							uc003ydz.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(343-345)TAC>TAA		WD repeat domain 21C							133.0	128.0	130.0					8																	88885855		2203	4300	6503	SO:0001587	stop_gained	138009							g.chr8:88885855G>T	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.345C>A	8.37:g.88885855G>T	ENSP00000316496:p.Tyr115*						p.Y115*	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	442	-			115						Nonsense_Mutation	SNP	ENST00000319675.3	37	c.345C>A	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036490	0.54896	.	.	ENSG00000176566	ENST00000319675	.	.	.	1.39	-2.79	0.05841	.	0.552745	0.21113	N	0.079947	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.6222	0.12461	0.0:0.5463:0.257:0.1967	.	.	.	.	X	115	.	ENSP00000316496:Y115X	Y	-	3	2	DCAF4L2	88954971	1.000000	0.71417	0.000000	0.03702	0.003000	0.03518	1.043000	0.30316	-0.799000	0.04439	0.467000	0.42956	TAC		0.552	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		44	157	1	0	1.34996e-11	0.009718	1.80606e-11	44	157				
RUNX1T1	862	broad.mit.edu	37	8	93004039	93004039	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:93004039G>T	ENST00000523629.1	-	7	1273	c.819C>A	c.(817-819)ggC>ggA	p.G273G	RUNX1T1_ENST00000396218.1_Silent_p.G246G|RUNX1T1_ENST00000265814.3_Silent_p.G273G|RUNX1T1_ENST00000436581.2_Silent_p.G284G|RUNX1T1_ENST00000360348.2_Silent_p.G236G|RUNX1T1_ENST00000520724.1_Silent_p.G236G|RUNX1T1_ENST00000422361.2_Silent_p.G236G|RUNX1T1_ENST00000518844.1_Silent_p.G246G	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	273					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G273G(2)|p.G284G(2)|p.G236G(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGTACCGCTGGCCTGGGCTAA	0.507																																							uc003yfd.2		NA																	6	Substitution - coding silent(6)		lung(6)	lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(817-819)GGC>GGA		acute myelogenous leukemia 1 translocation 1							186.0	154.0	165.0					8																	93004039		2203	4300	6503	SO:0001819	synonymous_variant	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93004039G>T	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.819C>A	8.37:g.93004039G>T						RUNX1T1_uc003yfc.1_Silent_p.G246G|RUNX1T1_uc003yfe.1_Silent_p.G236G|RUNX1T1_uc010mao.2_Silent_p.G246G|RUNX1T1_uc011lgi.1_Silent_p.G284G|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Silent_p.G236G	p.G273G	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		6	903	-			273					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	ENST00000523629.1	37	c.819C>A	CCDS6256.1																																																																																				0.507	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		36	97	1	0	2.48696e-23	0.003271	4.26027e-23	36	97				
RAD54B	25788	broad.mit.edu	37	8	95412526	95412526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:95412526C>T	ENST00000336148.5	-	7	1234	c.1110G>A	c.(1108-1110)tgG>tgA	p.W370*		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	370	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)	p.W370*(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			ATTCTTTCTTCCAATTATTCA	0.378								Direct reversal of damage;Homologous recombination																															uc003ygk.2		NA																	2	Substitution - Nonsense(2)		lung(2)	kidney(2)|lung(1)|skin(1)	4						c.(1108-1110)TGG>TGA	Direct_reversal_of_damage|Homologous_recombination	RAD54 homolog B							88.0	87.0	87.0					8																	95412526		2203	4300	6503	SO:0001587	stop_gained	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95412526C>T	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.1110G>A	8.37:g.95412526C>T	ENSP00000336606:p.Trp370*					RAD54B_uc010may.1_Nonsense_Mutation_p.W177*|RAD54B_uc003ygl.1_RNA	p.W370*	NM_012415	NP_036547	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		7	1208	-	Breast(36;4.5e-05)		Error:Variant_position_missing_in_O95073_after_alignment					F6WBS8	Nonsense_Mutation	SNP	ENST00000336148.5	37	c.1110G>A	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	C	39	7.545411	0.98348	.	.	ENSG00000197275	ENST00000336148;ENST00000546218	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.123	19.4213	0.94723	0.0:1.0:0.0:0.0	.	.	.	.	X	370;43	.	ENSP00000336606:W370X	W	-	3	0	RAD54B	95481702	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.589000	0.87451	0.655000	0.94253	TGG		0.378	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		42	71	0	0	0	0.00874	0	42	71				
CPQ	10404	broad.mit.edu	37	8	97797421	97797421	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:97797421G>T	ENST00000220763.5	+	2	506	c.296G>T	c.(295-297)gGg>gTg	p.G99V		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	99					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)	p.G99V(2)									CAGCAAGATGGGCTGGAGAAA	0.488																																							uc003yhw.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(295-297)GGG>GTG		plasma glutamate carboxypeptidase precursor							78.0	73.0	75.0					8																	97797421		2203	4300	6503	SO:0001583	missense	10404				peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	g.chr8:97797421G>T	AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"""lysosomal dipeptidase"", ""Ser-Met dipeptidase"", ""plasma glutamate carboxypeptidase"""					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.296G>T	8.37:g.97797421G>T	ENSP00000220763:p.Gly99Val					PGCP_uc010mbe.2_Missense_Mutation_p.G99V	p.G99V	NM_016134	NP_057218	Q9Y646	PGCP_HUMAN			2	462	+	Breast(36;1.86e-05)		99					B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	ENST00000220763.5	37	c.296G>T	CCDS6273.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.322616	0.41096	.	.	ENSG00000104324	ENST00000220763;ENST00000519900;ENST00000517742;ENST00000519484;ENST00000521142	T;T	0.63580	-0.05;0.26	5.65	4.78	0.61160	.	0.173551	0.51477	D	0.000092	T	0.81922	0.4925	M	0.92169	3.28	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.73380	0.98;0.98	D	0.85222	0.1027	10	0.87932	D	0	-5.1025	10.8741	0.46900	0.144:0.0:0.856:0.0	.	99;99	B5MDX4;Q9Y646	.;PGCP_HUMAN	V	99	ENSP00000220763:G99V;ENSP00000429146:G99V	ENSP00000220763:G99V	G	+	2	0	AC010859.1	97866597	1.000000	0.71417	0.871000	0.34182	0.041000	0.13682	7.366000	0.79548	1.394000	0.46624	-0.150000	0.13652	GGG		0.488	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2	NM_016134		33	66	1	0	1.08312e-15	0.009535	1.62262e-15	33	66				
CPQ	10404	broad.mit.edu	37	8	97892084	97892084	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:97892084A>T	ENST00000220763.5	+	4	910	c.700A>T	c.(700-702)Att>Ttt	p.I234F		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	234					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)	p.I234F(2)									AACAGCCTGTATTACGGTGGA	0.453																																							uc003yhw.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(700-702)ATT>TTT		plasma glutamate carboxypeptidase precursor							167.0	162.0	164.0					8																	97892084		2203	4300	6503	SO:0001583	missense	10404				peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	g.chr8:97892084A>T	AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"""lysosomal dipeptidase"", ""Ser-Met dipeptidase"", ""plasma glutamate carboxypeptidase"""					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.700A>T	8.37:g.97892084A>T	ENSP00000220763:p.Ile234Phe					PGCP_uc010mbe.2_Missense_Mutation_p.I234F	p.I234F	NM_016134	NP_057218	Q9Y646	PGCP_HUMAN			4	866	+	Breast(36;1.86e-05)		234					B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	ENST00000220763.5	37	c.700A>T	CCDS6273.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.956837	0.73902	.	.	ENSG00000104324	ENST00000220763	T	0.56776	0.44	5.53	4.34	0.51931	.	0.061408	0.64402	D	0.000004	T	0.77287	0.4108	M	0.93283	3.4	0.46901	D	0.999249	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.973	T	0.81376	-0.0961	10	0.87932	D	0	-2.3162	10.8425	0.46724	0.8417:0.1583:0.0:0.0	.	234;234	B5MDX4;Q9Y646	.;PGCP_HUMAN	F	234	ENSP00000220763:I234F	ENSP00000220763:I234F	I	+	1	0	AC010859.1	97961260	1.000000	0.71417	0.996000	0.52242	0.961000	0.63080	5.924000	0.70054	1.008000	0.39264	0.477000	0.44152	ATT		0.453	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2	NM_016134		122	198	0	0	0	0.00361	0	122	198				
VPS13B	157680	broad.mit.edu	37	8	100791128	100791128	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:100791128G>T	ENST00000358544.2	+	42	7834	c.7723G>T	c.(7723-7725)Ggg>Tgg	p.G2575W	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.G2550W	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2575					protein transport (GO:0015031)			p.G2550W(2)|p.G2575W(2)		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)			CAGCATCTTCGGGCAGATGGC	0.453																																					Colon(161;2205 2542 7338 31318)	Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(7723-7725)GGG>TGG		vacuolar protein sorting 13B isoform 5							128.0	114.0	119.0					8																	100791128		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100791128G>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.7723G>T	8.37:g.100791128G>T	ENSP00000351346:p.Gly2575Trp					VPS13B_uc003yiw.2_Missense_Mutation_p.G2550W	p.G2575W	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		42	7834	+	Breast(36;3.73e-07)		2575					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.7723G>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.661459	0.47572	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.72394	-0.65;-0.65	5.41	5.41	0.78517	.	0.060469	0.64402	D	0.000006	T	0.82051	0.4953	L	0.61218	1.895	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.64042	0.921;0.836	D	0.83511	0.0080	10	0.72032	D	0.01	.	19.1888	0.93654	0.0:0.0:1.0:0.0	.	2550;2575	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	W	2550;2575	ENSP00000349685:G2550W;ENSP00000351346:G2575W	ENSP00000349685:G2550W	G	+	1	0	VPS13B	100860304	1.000000	0.71417	0.487000	0.27428	0.151000	0.21798	3.473000	0.53122	2.540000	0.85666	0.563000	0.77884	GGG		0.453	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		42	165	1	0	3.38236e-24	0.006999	5.89668e-24	42	165				
SPAG1	6674	broad.mit.edu	37	8	101253240	101253240	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:101253240A>G	ENST00000388798.2	+	19	2962	c.2771A>G	c.(2770-2772)tAt>tGt	p.Y924C	SPAG1_ENST00000251809.3_Missense_Mutation_p.Y924C	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	924					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)	p.Y924C(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		AAAAGGCAGTATGAGCTTTAA	0.368																																							uc003yjh.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(2770-2772)TAT>TGT		sperm associated antigen 1							68.0	68.0	68.0					8																	101253240		2203	4300	6503	SO:0001583	missense	6674				single fertilization	cytoplasm	GTP binding|hydrolase activity	g.chr8:101253240A>G	AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.2771A>G	8.37:g.101253240A>G	ENSP00000373450:p.Tyr924Cys					SPAG1_uc003yji.1_Missense_Mutation_p.Y924C	p.Y924C	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)	19	2857	+	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	924					A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	ENST00000388798.2	37	c.2771A>G	CCDS34930.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.269668	0.40095	.	.	ENSG00000104450	ENST00000251809;ENST00000388798	T;T	0.74526	-0.85;-0.85	6.17	6.17	0.99709	.	0.121310	0.64402	D	0.000020	T	0.79896	0.4525	L	0.36672	1.1	0.53005	D	0.999968	D	0.89917	1.0	D	0.76575	0.988	T	0.81616	-0.0852	10	0.87932	D	0	-24.4896	12.1619	0.54109	0.8719:0.0:0.0:0.1281	.	924	Q07617	SPAG1_HUMAN	C	924	ENSP00000251809:Y924C;ENSP00000373450:Y924C	ENSP00000251809:Y924C	Y	+	2	0	SPAG1	101322416	1.000000	0.71417	0.998000	0.56505	0.159000	0.22180	4.642000	0.61383	2.371000	0.80710	0.533000	0.62120	TAT		0.368	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2	NM_172218		37	54	0	0	0	0.004878	0	37	54				
CSMD3	114788	broad.mit.edu	37	8	113504881	113504881	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:113504881G>T	ENST00000297405.5	-	31	5359	c.5115C>A	c.(5113-5115)ggC>ggA	p.G1705G	CSMD3_ENST00000343508.3_Silent_p.G1665G|CSMD3_ENST00000352409.3_Silent_p.G1705G|CSMD3_ENST00000455883.2_Silent_p.G1601G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1705	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G1705G(3)|p.G1665G(2)		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						TCATTATATTGCCTGGATCAA	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	5	Substitution - coding silent(5)	p.G1705G(1)	lung(4)|ovary(1)	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.(5113-5115)GGC>GGA		CUB and Sushi multiple domains 3 isoform 1							145.0	133.0	137.0					8																	113504881		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113504881G>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.5115C>A	8.37:g.113504881G>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.G977G|CSMD3_uc003ynt.2_Silent_p.G1665G|CSMD3_uc011lhx.1_Silent_p.G1601G	p.G1705G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			31	5274	-			1705			Extracellular (Potential).|Sushi 9.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.5115C>A	CCDS6315.1																																																																																				0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		61	104	1	0	2.69953e-25	0.00361	4.7803e-25	61	104				
CSMD3	114788	broad.mit.edu	37	8	113529424	113529424	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:113529424C>A	ENST00000297405.5	-	28	4839	c.4595G>T	c.(4594-4596)gGg>gTg	p.G1532V	CSMD3_ENST00000343508.3_Missense_Mutation_p.G1492V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1532V|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1428V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1532	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G1532V(2)|p.G1492V(2)		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						CATGGGGACCCCTGGGTCACG	0.428										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	4	Substitution - Missense(4)		lung(4)	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.(4594-4596)GGG>GTG		CUB and Sushi multiple domains 3 isoform 1							62.0	56.0	58.0					8																	113529424		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113529424C>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.4595G>T	8.37:g.113529424C>A	ENSP00000297405:p.Gly1532Val	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.G804V|CSMD3_uc003ynt.2_Missense_Mutation_p.G1492V|CSMD3_uc011lhx.1_Missense_Mutation_p.G1428V	p.G1532V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			28	4754	-			1532			Extracellular (Potential).|Sushi 8.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4595G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055617	0.75960	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	4.56	4.56	0.56223	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.78426	0.4281	M	0.79475	2.455	0.80722	D	1	D;D;P	0.71674	0.997;0.998;0.935	D;D;P	0.75020	0.956;0.985;0.736	T	0.77130	-0.2701	10	0.29301	T	0.29	.	17.5002	0.87728	0.0:1.0:0.0:0.0	.	1428;1532;1492	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	1492;1532;872;1428;1532	ENSP00000345799:G1492V;ENSP00000297405:G1532V;ENSP00000341558:G872V;ENSP00000412263:G1428V;ENSP00000343124:G1532V	ENSP00000297405:G1532V	G	-	2	0	CSMD3	113598600	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.577000	0.82486	2.339000	0.79563	0.585000	0.79938	GGG		0.428	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		53	75	1	0	2.84144e-21	0.00361	4.75383e-21	53	75				
CSMD3	114788	broad.mit.edu	37	8	113988231	113988231	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:113988231C>A	ENST00000297405.5	-	7	1421	c.1177G>T	c.(1177-1179)Gaa>Taa	p.E393*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.E353*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.E393*|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	393						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E393*(2)|p.E353*(2)		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						ACTCGCTGTTCCTCGGAAAGT	0.502										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	4	Substitution - Nonsense(4)		lung(4)	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.(1177-1179)GAA>TAA		CUB and Sushi multiple domains 3 isoform 1							207.0	182.0	190.0					8																	113988231		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113988231C>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.1177G>T	8.37:g.113988231C>A	ENSP00000297405:p.Glu393*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Nonsense_Mutation_p.E353*|CSMD3_uc011lhx.1_Intron	p.E393*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			7	1336	-			393			Extracellular (Potential).		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.1177G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	40	8.241030	0.98722	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000352409	.	.	.	6.17	6.17	0.99709	.	0.423784	0.21273	N	0.077287	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	353;393;393	.	ENSP00000297405:E393X	E	-	1	0	CSMD3	114057407	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.335000	0.65929	2.941000	0.99782	0.655000	0.94253	GAA		0.502	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		46	227	1	0	4.25531e-23	0.00361	7.27373e-23	46	227				
SLC30A8	169026	broad.mit.edu	37	8	118174010	118174010	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:118174010C>A	ENST00000456015.2	+	5	606	c.606C>A	c.(604-606)ggC>ggA	p.G202G	RN7SL826P_ENST00000479724.2_RNA|SLC30A8_ENST00000521243.1_Silent_p.G153G|SLC30A8_ENST00000519688.1_Silent_p.G153G|SLC30A8_ENST00000427715.2_Silent_p.G153G	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	202					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.G202G(2)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			GATGCCTTGGCCACAATCACA	0.448																																					Ovarian(162;1202 1922 6011 16223 52092)	Ovarian(162;1202 1922 6011 16223 52092)	uc003yoh.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(2)	4						c.(604-606)GGC>GGA		solute carrier family 30 member 8							163.0	136.0	145.0					8																	118174010		2203	4300	6503	SO:0001819	synonymous_variant	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118174010C>A		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.606C>A	8.37:g.118174010C>A						SLC30A8_uc010mcz.2_Silent_p.G153G|SLC30A8_uc011lia.1_Silent_p.G153G|SLC30A8_uc003yog.2_Silent_p.G153G	p.G202G	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		5	836	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		202			HXXXXX[HY]NH-motif.|Cytoplasmic (Potential).		A0AVP9|A5YM39|B4DPE0|Q8TCL3	Silent	SNP	ENST00000456015.2	37	c.606C>A	CCDS6322.1																																																																																				0.448	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		16	112	1	0	4.7546e-09	0.004007	5.77292e-09	16	112				
COL14A1	7373	broad.mit.edu	37	8	121220515	121220515	+	Silent	SNP	G	G	A	rs558868115	byFrequency	TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:121220515G>A	ENST00000297848.3	+	11	1506	c.1236G>A	c.(1234-1236)ttG>ttA	p.L412L	COL14A1_ENST00000309791.4_Silent_p.L412L|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.L317L|COL14A1_ENST00000537875.1_Silent_p.L412L	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.L412L(2)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGAAAAACTTGATGTCTTTAA	0.388													G|||	2	0.000399361	0.0	0.0	5008	,	,		18956	0.001		0.0	False		,,,				2504	0.001						uc003yox.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(1234-1236)TTG>TTA		collagen, type XIV, alpha 1 precursor							104.0	91.0	95.0					8																	121220515		2203	4300	6503	SO:0001819	synonymous_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121220515G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1236G>A	8.37:g.121220515G>A						COL14A1_uc003yoy.2_Silent_p.L90L|COL14A1_uc010mde.1_Silent_p.L90L	p.L412L	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		11	1501	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		412			Fibronectin type-III 2.			Silent	SNP	ENST00000297848.3	37	c.1236G>A	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	8.769	0.925404	0.18056	.	.	ENSG00000187955	ENST00000523142	.	.	.	5.14	3.28	0.37604	.	.	.	.	.	T	0.61337	0.2339	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56805	-0.7918	4	.	.	.	.	10.9163	0.47137	0.1589:0.0:0.8411:0.0	.	.	.	.	N	169	.	.	D	+	1	0	COL14A1	121289696	1.000000	0.71417	0.956000	0.39512	0.994000	0.84299	1.650000	0.37292	0.610000	0.30035	0.561000	0.74099	GAT		0.388	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		32	62	0	0	0	0.009535	0	32	62				
FER1L6	654463	broad.mit.edu	37	8	125109517	125109517	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:125109517C>T	ENST00000522917.1	+	36	4907	c.4701C>T	c.(4699-4701)cgC>cgT	p.R1567R	FER1L6_ENST00000399018.1_Silent_p.R1567R|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1567						integral component of membrane (GO:0016021)		p.R1567R(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACAAGGGCCGCCTGCAGATGT	0.468																																							uc003yqw.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(5)|skin(5)|central_nervous_system(1)	11						c.(4699-4701)CGC>CGT		fer-1-like 6							84.0	81.0	82.0					8																	125109517		1914	4146	6060	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:125109517C>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.4701C>T	8.37:g.125109517C>T						uc003yqy.1_Intron	p.R1567R	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		36	4907	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1567			Cytoplasmic (Potential).			Silent	SNP	ENST00000522917.1	37	c.4701C>T	CCDS43767.1																																																																																				0.468	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		92	144	0	0	0	0.00361	0	92	144				
ADCY8	114	broad.mit.edu	37	8	131964130	131964130	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:131964130G>C	ENST00000286355.5	-	3	3317	c.1225C>G	c.(1225-1227)Cgc>Ggc	p.R409G	ADCY8_ENST00000377928.3_Missense_Mutation_p.R409G|RP11-737F9.1_ENST00000523318.1_RNA	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	409					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.R409G(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTCTCATAGCGATGGATGTAG	0.517										HNSCC(32;0.087)																													uc003ytd.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1225-1227)CGC>GGC		adenylate cyclase 8							176.0	130.0	146.0					8																	131964130		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131964130G>C	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1225C>G	8.37:g.131964130G>C	ENSP00000286355:p.Arg409Gly	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.R409G	p.R409G	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		3	1481	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		409			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.1225C>G	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356759	0.82243	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	D;D;D	0.81659	-1.52;-1.52;-1.52	5.22	5.22	0.72569	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.055999	0.85682	D	0.000000	T	0.81997	0.4941	M	0.77313	2.365	0.41287	D	0.98695	P;P	0.43169	0.8;0.637	B;B	0.42692	0.395;0.202	D	0.84754	0.0758	10	0.62326	D	0.03	.	13.1371	0.59415	0.0:0.0:0.8401:0.1599	.	409;409	E7EVL1;P40145	.;ADCY8_HUMAN	G	409;409;24	ENSP00000286355:R409G;ENSP00000367161:R409G;ENSP00000428010:R24G	ENSP00000286355:R409G	R	-	1	0	ADCY8	132033312	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.908000	0.87438	2.566000	0.86566	0.655000	0.94253	CGC		0.517	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			32	83	0	0	0	0.002096	0	32	83				
CYP11B2	1585	broad.mit.edu	37	8	143994002	143994002	+	Missense_Mutation	SNP	G	G	T	rs376248857		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:143994002G>T	ENST00000323110.2	-	8	1344	c.1342C>A	c.(1342-1344)Cgc>Agc	p.R448S		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	448					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.R448S(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	AGGCACTGGCGCATGCCAAAG	0.682									Familial Hyperaldosteronism type I																														uc003yxk.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1342-1344)CGC>AGC		cytochrome P450, family 11, subfamily B,	Candesartan(DB00796)|Metyrapone(DB01011)						64.0	72.0	69.0					8																	143994002		2203	4300	6503	SO:0001583	missense	1585	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143994002G>T	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1342C>A	8.37:g.143994002G>T	ENSP00000325822:p.Arg448Ser						p.R448S	NM_000498	NP_000489	P19099	C11B2_HUMAN			8	1345	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		448					B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	c.1342C>A	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	13.60	2.285620	0.40394	.	.	ENSG00000179142	ENST00000323110	D	0.84730	-1.89	3.52	1.69	0.24217	Cytochrome P450, conserved site (1);	0.126253	0.36374	N	0.002621	D	0.92573	0.7641	M	0.93507	3.425	0.43522	D	0.99579	D	0.89917	1.0	D	0.91635	0.999	D	0.90542	0.4503	10	0.87932	D	0	.	7.1705	0.25717	0.2301:0.0:0.7699:0.0	.	448	P19099	C11B2_HUMAN	S	448	ENSP00000325822:R448S	ENSP00000325822:R448S	R	-	1	0	CYP11B2	143991004	1.000000	0.71417	0.997000	0.53966	0.288000	0.27193	4.245000	0.58734	0.288000	0.22398	-0.251000	0.11542	CGC		0.682	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			27	166	1	0	9.78306e-22	0.009535	1.64723e-21	27	166				
INSL4	3641	broad.mit.edu	37	9	5231684	5231684	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:5231684C>T	ENST00000239316.4	+	1	266	c.161C>T	c.(160-162)cCa>cTa	p.P54L		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	54					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	insulin-like growth factor receptor binding (GO:0005159)|receptor binding (GO:0005102)	p.P54L(2)		endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		ACCACCACCCCAGGAGGGTGG	0.527																																							uc003ziy.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(160-162)CCA>CTA		insulin-like 4 precursor							59.0	57.0	58.0					9																	5231684		2203	4300	6503	SO:0001583	missense	3641				cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding	g.chr9:5231684C>T		CCDS6459.1	9p24	2008-02-05			ENSG00000120211	ENSG00000120211			6087	protein-coding gene	gene with protein product		600910				8666396, 9730618	Standard	NM_002195		Approved	EPIL	uc003ziy.3	Q14641	OTTHUMG00000019494	ENST00000239316.4:c.161C>T	9.37:g.5231684C>T	ENSP00000239316:p.Pro54Leu						p.P54L	NM_002195	NP_002186	Q14641	INSL4_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)	1	266	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	54					A8K678|Q5W127	Missense_Mutation	SNP	ENST00000239316.4	37	c.161C>T	CCDS6459.1	.	.	.	.	.	.	.	.	.	.	C	6.894	0.534450	0.13188	.	.	ENSG00000120211	ENST00000239316	D	0.83591	-1.74	1.54	-1.63	0.08345	.	6.562330	0.01903	N	0.039372	T	0.60353	0.2262	N	0.03608	-0.345	0.09310	N	1	P	0.34977	0.478	B	0.25987	0.065	T	0.55909	-0.8066	10	0.30078	T	0.28	.	5.7698	0.18247	0.398:0.602:0.0:0.0	.	54	Q14641	INSL4_HUMAN	L	54	ENSP00000239316:P54L	ENSP00000239316:P54L	P	+	2	0	INSL4	5221684	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.377000	0.07456	-0.409000	0.07553	0.205000	0.17691	CCA		0.527	INSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051616.2	NM_002195		39	44	0	0	0	0.007835	0	39	44				
ADAMTSL1	92949	broad.mit.edu	37	9	18639359	18639359	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:18639359A>C	ENST00000380548.4	+	7	1123	c.784A>C	c.(784-786)Aaa>Caa	p.K262Q	ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.K262Q|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.K262Q|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.K262Q	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	262						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K262Q(4)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ATTTCCAGACAAAGAGATACT	0.443																																							uc003zne.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5						c.(784-786)AAA>CAA		ADAMTS-like 1 isoform 4 precursor							65.0	66.0	66.0					9																	18639359		2203	4299	6502	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18639359A>C	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.784A>C	9.37:g.18639359A>C	ENSP00000369921:p.Lys262Gln					ADAMTSL1_uc003znb.2_Missense_Mutation_p.K262Q|ADAMTSL1_uc003znc.3_Missense_Mutation_p.K262Q	p.K262Q	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	7	911	+			262					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.784A>C	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	A	15.46	2.841363	0.51057	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000380566;ENST00000276935	T;T;T;T	0.62788	-0.0;0.71;0.71;0.71	5.77	5.77	0.91146	.	.	.	.	.	T	0.58337	0.2115	N	0.21508	0.67	0.80722	D	1	D;P	0.60575	0.988;0.887	P;P	0.51833	0.676;0.681	T	0.55049	-0.8201	9	0.22706	T	0.39	.	16.3818	0.83467	1.0:0.0:0.0:0.0	.	262;262	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	Q	262	ENSP00000369921:K262Q;ENSP00000327887:K262Q;ENSP00000369940:K262Q;ENSP00000276935:K262Q	ENSP00000276935:K262Q	K	+	1	0	ADAMTSL1	18629359	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.220000	0.89772	2.330000	0.79161	0.528000	0.53228	AAA		0.443	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			4	48	0	0	0	0.001168	0	4	48				
FRMPD1	22844	broad.mit.edu	37	9	37744666	37744666	+	Silent	SNP	A	A	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:37744666A>C	ENST00000539465.1	+	16	3230	c.2637A>C	c.(2635-2637)gcA>gcC	p.A879A	FRMPD1_ENST00000377765.3_Silent_p.A879A|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	879						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.A879A(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CCCTTGGTGCACCCTCCCCAA	0.607																																							uc004aag.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(2635-2637)GCA>GCC		FERM and PDZ domain containing 1							69.0	67.0	68.0					9																	37744666		2203	4300	6503	SO:0001819	synonymous_variant	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37744666A>C	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.2637A>C	9.37:g.37744666A>C						FRMPD1_uc004aah.1_Silent_p.A879A	p.A879A	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	2681	+			879					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP	ENST00000539465.1	37	c.2637A>C	CCDS6612.1																																																																																				0.607	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		12	69	0	0	0	0.003163	0	12	69				
FRMPD1	22844	broad.mit.edu	37	9	37746032	37746032	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:37746032A>T	ENST00000539465.1	+	16	4596	c.4003A>T	c.(4003-4005)Agc>Tgc	p.S1335C	FRMPD1_ENST00000377765.3_Missense_Mutation_p.S1335C|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1335						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.S1335C(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GGACCAGTGCAGCTGTCAGTT	0.577																																							uc004aag.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(4003-4005)AGC>TGC		FERM and PDZ domain containing 1							140.0	142.0	142.0					9																	37746032		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37746032A>T	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.4003A>T	9.37:g.37746032A>T	ENSP00000444411:p.Ser1335Cys					FRMPD1_uc004aah.1_Missense_Mutation_p.S1335C	p.S1335C	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	4047	+			1335					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.4003A>T	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	A	19.40	3.820297	0.71028	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.10763	2.84;2.84	5.38	4.22	0.49857	.	0.088284	0.85682	D	0.000000	T	0.15522	0.0374	L	0.27053	0.805	0.80722	D	1	D	0.67145	0.996	P	0.57371	0.819	T	0.01301	-1.1391	10	0.66056	D	0.02	-9.7917	10.8676	0.46864	0.8422:0.1578:0.0:0.0	.	1335	Q5SYB0	FRPD1_HUMAN	C	1335	ENSP00000366995:S1335C;ENSP00000444411:S1335C	ENSP00000366995:S1335C	S	+	1	0	FRMPD1	37736032	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.707000	0.47143	0.855000	0.35359	0.459000	0.35465	AGC		0.577	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		37	233	0	0	0	0.004289	0	37	233				
TRPM3	80036	broad.mit.edu	37	9	73253977	73253977	+	Splice_Site	SNP	G	G	T	rs370440673		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:73253977G>T	ENST00000377111.2	-	11	1823	c.1580C>A	c.(1579-1581)aCg>aAg	p.T527K	TRPM3_ENST00000377105.1_Splice_Site_p.T374K|TRPM3_ENST00000377110.3_Splice_Site_p.T527K|TRPM3_ENST00000396280.5_Splice_Site_p.T374K|TRPM3_ENST00000377106.1_Splice_Site_p.T399K|TRPM3_ENST00000423814.3_Splice_Site_p.T554K|TRPM3_ENST00000396292.4_Splice_Site_p.T399K|TRPM3_ENST00000358082.3_Splice_Site_p.T399K|TRPM3_ENST00000408909.2_Splice_Site_p.T374K|TRPM3_ENST00000357533.2_Splice_Site_p.T529K|TRPM3_ENST00000360823.2_Splice_Site_p.T399K|TRPM3_ENST00000396285.1_Splice_Site_p.T374K	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	552					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.T529K(1)|p.T399K(1)|p.T527K(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGGCCCTACCGTATTGTACAA	0.418																																							uc004aid.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(1579-1581)ACG>AAG		transient receptor potential cation channel,							125.0	121.0	123.0					9																	73253977		2203	4300	6503	SO:0001630	splice_region_variant	80036					integral to membrane	calcium channel activity	g.chr9:73253977G>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1581+1C>A	9.37:g.73253977G>T						TRPM3_uc004ahu.2_Missense_Mutation_p.T357K|TRPM3_uc004ahv.2_Intron|TRPM3_uc004ahw.2_Missense_Mutation_p.T399K|TRPM3_uc004ahx.2_Missense_Mutation_p.T374K|TRPM3_uc004ahy.2_Missense_Mutation_p.T399K|TRPM3_uc004ahz.2_Missense_Mutation_p.T374K|TRPM3_uc004aia.2_Missense_Mutation_p.T374K|TRPM3_uc004aib.2_Missense_Mutation_p.T374K|TRPM3_uc004aic.2_Missense_Mutation_p.T527K|TRPM3_uc010mor.2_Missense_Mutation_p.T527K	p.T527K	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			11	1824	-			552			Cytoplasmic (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.1580C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.276025|5.276025	0.95459|0.95459	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;T;T;T;T;T;T;T;T|.	0.25085|.	1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82|.	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.82245|.	0.4995|.	M|M	0.82132|0.82132	2.575|2.575	0.58432|0.58432	D|D	0.999999|0.999999	P;D;P;D;P;D;D;P|.	0.89917|.	0.751;0.97;0.872;1.0;0.947;0.999;1.0;0.941|.	B;P;P;D;P;D;D;P|.	0.91635|.	0.197;0.877;0.704;0.999;0.667;0.963;0.991;0.551|.	T|.	0.81961|.	-0.0693|.	10|.	0.87932|.	D|.	0|.	-19.6761|-19.6761	19.9522|19.9522	0.97203|0.97203	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	552;527;527;527;529;399;374;374|.	Q9HCF6;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;A2A3F3|.	TRPM3_HUMAN;.;.;.;.;.;.;.|.	K|X	527;527;399;399;374;529;374;374;399;399;554|373	ENSP00000366315:T527K;ENSP00000366314:T527K;ENSP00000366310:T399K;ENSP00000354066:T399K;ENSP00000366309:T374K;ENSP00000350140:T529K;ENSP00000386127:T374K;ENSP00000379581:T374K;ENSP00000379587:T399K;ENSP00000350791:T399K;ENSP00000389542:T554K|.	ENSP00000350140:T529K|.	T|Y	-|-	2|3	0|2	TRPM3|TRPM3	72443797|72443797	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.869000|9.869000	0.99810|0.99810	2.725000|2.725000	0.93324|0.93324	0.655000|0.655000	0.94253|0.94253	ACG|TAC		0.418	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945	Missense_Mutation	23	104	1	0	1.66031e-10	0.003954	2.1136e-10	23	104				
TMEM2	23670	broad.mit.edu	37	9	74327059	74327059	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:74327059C>A	ENST00000377044.4	-	16	3248	c.2709G>T	c.(2707-2709)atG>atT	p.M903I	TMEM2_ENST00000377066.5_Missense_Mutation_p.M840I	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	903					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.M903I(2)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGGAATTCTTCATGAGGAAGC	0.428																																							uc011lsa.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2707-2709)ATG>ATT		transmembrane protein 2 isoform a							128.0	120.0	123.0					9																	74327059		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74327059C>A		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.2709G>T	9.37:g.74327059C>A	ENSP00000366243:p.Met903Ile					TMEM2_uc010mos.2_Missense_Mutation_p.M840I|TMEM2_uc011lsb.1_RNA	p.M903I	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	16	3249	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	903					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.2709G>T	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848118	0.51164	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000377043	T;T;T	0.55234	0.53;0.53;0.53	5.44	5.44	0.79542	Pectin lyase fold/virulence factor (1);	0.193443	0.56097	D	0.000027	T	0.52041	0.1710	L	0.51422	1.61	0.80722	D	1	B;B	0.12013	0.003;0.005	B;B	0.12837	0.003;0.008	T	0.48681	-0.9014	10	0.59425	D	0.04	.	19.634	0.95722	0.0:1.0:0.0:0.0	.	903;840	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	I	903;840;4	ENSP00000366243:M903I;ENSP00000366266:M840I;ENSP00000366242:M4I	ENSP00000366242:M4I	M	-	3	0	TMEM2	73516879	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.503000	0.60407	2.732000	0.93576	0.591000	0.81541	ATG		0.428	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		23	109	1	0	5.26018e-13	0.001882	7.44169e-13	23	109				
TMC1	117531	broad.mit.edu	37	9	75387409	75387409	+	Silent	SNP	G	G	A	rs370523728		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:75387409G>A	ENST00000297784.5	+	13	1362	c.822G>A	c.(820-822)ccG>ccA	p.P274P	TMC1_ENST00000340019.3_Silent_p.P274P|TMC1_ENST00000396237.3_Silent_p.P274P	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	274					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.P274P(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TCAGGTTGCCGCTCTCCTATT	0.383																																					Pancreas(75;173 1345 14232 34245 43413)	Pancreas(75;173 1345 14232 34245 43413)	uc004aiz.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(820-822)CCG>CCA		transmembrane channel-like 1		G		0,4406		0,0,2203	220.0	216.0	217.0		822	-9.3	0.6	9		217	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TMC1	NM_138691.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		274/761	75387409	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	117531				sensory perception of sound	integral to membrane		g.chr9:75387409G>A	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.822G>A	9.37:g.75387409G>A						TMC1_uc010moz.1_Silent_p.P232P|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Silent_p.P128P|TMC1_uc010mpa.1_Silent_p.P128P	p.P274P	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN			13	1362	+			274			Helical; (Potential).		A8MVZ2|B1AM91	Silent	SNP	ENST00000297784.5	37	c.822G>A	CCDS6643.1																																																																																				0.383	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			52	211	0	0	0	0.00361	0	52	211				
TRPM6	140803	broad.mit.edu	37	9	77378052	77378052	+	Splice_Site	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:77378052T>C	ENST00000360774.1	-	26	3774		c.e26-2		TRPM6_ENST00000449912.2_Splice_Site|TRPM6_ENST00000451710.3_Splice_Site|TRPM6_ENST00000361255.3_Splice_Site|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Splice_Site|TRPM6_ENST00000376871.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.?(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCTGTAACCCTAGTGGTGAAG	0.458																																							uc004ajl.1		NA																	2	Unknown(2)		lung(2)	lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.e26-1		transient receptor potential cation channel,							39.0	40.0	39.0					9																	77378052		2193	4292	6485	SO:0001630	splice_region_variant	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77378052T>C	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3537-2A>G	9.37:g.77378052T>C						TRPM6_uc004ajk.1_Splice_Site_p.R1174_splice|TRPM6_uc010mpb.1_Splice_Site|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Splice_Site_p.R135_splice	p.R1179_splice	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			26	3775	-								Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Splice_Site	SNP	ENST00000360774.1	37	c.3537_splice	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.183500	0.78677	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4075	0.83691	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRPM6	76567872	1.000000	0.71417	0.977000	0.42913	0.900000	0.52787	7.474000	0.81024	2.275000	0.75901	0.528000	0.53228	.		0.458	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662	Intron	9	44	0	0	0	0.004482	0	9	44				
TRPM6	140803	broad.mit.edu	37	9	77423091	77423091	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:77423091C>A	ENST00000360774.1	-	14	1735		c.e14-1		TRPM6_ENST00000449912.2_Splice_Site|TRPM6_ENST00000451710.3_Splice_Site|TRPM6_ENST00000361255.3_Splice_Site|TRPM6_ENST00000376872.3_Splice_Site|TRPM6_ENST00000376864.4_Splice_Site|TRPM6_ENST00000376871.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.?(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GAAGGGTATGCTGCAACAAAA	0.358																																							uc004ajl.1		NA																	2	Unknown(2)		lung(2)	lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.e14-1		transient receptor potential cation channel,							149.0	141.0	144.0					9																	77423091		2203	4300	6503	SO:0001630	splice_region_variant	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77423091C>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1498-1G>T	9.37:g.77423091C>A						TRPM6_uc004ajk.1_Splice_Site_p.H495_splice|TRPM6_uc010mpb.1_Splice_Site|TRPM6_uc010mpc.1_Splice_Site_p.H500_splice|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	p.H500_splice	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			14	1736	-								Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Splice_Site	SNP	ENST00000360774.1	37	c.1498_splice	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.698217	0.48307	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9279	0.97110	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRPM6	76612911	1.000000	0.71417	0.995000	0.50966	0.313000	0.28021	3.528000	0.53524	2.715000	0.92844	0.655000	0.94253	.		0.358	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662	Intron	21	78	1	0	1.50039e-11	0.001882	1.99377e-11	21	78				
FRMD3	257019	broad.mit.edu	37	9	85905627	85905627	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:85905627C>G	ENST00000304195.3	-	13	1292	c.1086G>C	c.(1084-1086)caG>caC	p.Q362H	FRMD3_ENST00000376434.1_Missense_Mutation_p.Q168H|FRMD3_ENST00000376438.1_Missense_Mutation_p.Q362H	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	362						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)		p.Q362H(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						AACTGCGGCTCTGAGTAATGT	0.527																																							uc004ams.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1084-1086)CAG>CAC		FERM domain containing 3							101.0	106.0	104.0					9																	85905627		1975	4156	6131	SO:0001583	missense	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85905627C>G	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1086G>C	9.37:g.85905627C>G	ENSP00000303508:p.Gln362His					FRMD3_uc004amr.1_Missense_Mutation_p.Q348H	p.Q362H	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN			13	1288	-			362					A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	ENST00000304195.3	37	c.1086G>C	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.973400	0.34848	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000304195	D;D;D	0.86030	-2.06;-2.06;-2.06	5.9	4.0	0.46444	FERM adjacent (FA) (1);	0.053628	0.85682	D	0.000000	T	0.71609	0.3360	N	0.16478	0.41	0.50467	D	0.999877	B;B	0.17038	0.02;0.016	B;B	0.20577	0.03;0.018	T	0.62812	-0.6775	10	0.39692	T	0.17	.	6.3804	0.21531	0.0:0.6799:0.1494:0.1707	.	362;362	A2A2Y4;A2A2Y4-2	FRMD3_HUMAN;.	H	362;168;362	ENSP00000365621:Q362H;ENSP00000365617:Q168H;ENSP00000303508:Q362H	ENSP00000303508:Q362H	Q	-	3	2	FRMD3	85095447	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.922000	0.40045	0.774000	0.33427	0.655000	0.94253	CAG		0.527	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		28	92	0	0	0	0.007291	0	28	92				
C9orf64	84267	broad.mit.edu	37	9	86559805	86559805	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:86559805T>A	ENST00000376344.3	-	3	913	c.697A>T	c.(697-699)Agt>Tgt	p.S233C	C9orf64_ENST00000314700.1_Missense_Mutation_p.S92C	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	233								p.S233C(2)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ATGGTGATACTGGAGATGTCC	0.428																																							uc004anb.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(697-699)AGT>TGT		hypothetical protein LOC84267							128.0	109.0	115.0					9																	86559805		2203	4300	6503	SO:0001583	missense	84267							g.chr9:86559805T>A	AK090882	CCDS6666.2	9q22.1	2014-06-11			ENSG00000165118	ENSG00000165118			28144	protein-coding gene	gene with protein product		611342				24911101	Standard	NM_032307		Approved	MGC10999	uc004anb.3	Q5T6V5	OTTHUMG00000020111	ENST00000376344.3:c.697A>T	9.37:g.86559805T>A	ENSP00000365522:p.Ser233Cys					C9orf64_uc004anc.2_Missense_Mutation_p.S92C	p.S233C	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN			3	945	-			233					B2RPI6|Q8N2B1|Q9BT18	Missense_Mutation	SNP	ENST00000376344.3	37	c.697A>T	CCDS6666.2	.	.	.	.	.	.	.	.	.	.	T	15.43	2.832515	0.50845	.	.	ENSG00000165118	ENST00000376344;ENST00000314700	.	.	.	4.97	4.97	0.65823	.	0.408324	0.29239	N	0.012724	T	0.76018	0.3929	M	0.79693	2.465	0.80722	D	1	D	0.64830	0.994	P	0.57371	0.819	T	0.79366	-0.1833	9	0.52906	T	0.07	-6.0466	14.9777	0.71286	0.0:0.0:0.0:1.0	.	233	Q5T6V5	CI064_HUMAN	C	233;92	.	ENSP00000318375:S92C	S	-	1	0	C9orf64	85749625	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.256000	0.51492	1.995000	0.58328	0.533000	0.62120	AGT		0.428	C9orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052865.1	NM_032307		9	86	0	0	0	0.004482	0	9	86				
TGFBR1	7046	broad.mit.edu	37	9	101904899	101904899	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:101904899C>T	ENST00000374994.4	+	5	1004	c.887C>T	c.(886-888)aCa>aTa	p.T296I	TGFBR1_ENST00000552516.1_Missense_Mutation_p.T300I|TGFBR1_ENST00000374990.2_Missense_Mutation_p.T219I|TGFBR1_ENST00000550253.1_Missense_Mutation_p.T227I	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	296	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.T296I(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				AACAGATACACAGTTACTGTG	0.418																																							uc004azc.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|ovary(1)	3						c.(886-888)ACA>ATA		transforming growth factor, beta receptor I							200.0	172.0	181.0					9																	101904899		2203	4300	6503	SO:0001583	missense	7046				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	g.chr9:101904899C>T		CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"""activin A receptor type II-like kinase, 53kDa"""	190181	"""transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)"", ""multiple self-healing squamous epithelioma"""	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.887C>T	9.37:g.101904899C>T	ENSP00000364133:p.Thr296Ile					TGFBR1_uc004azd.2_Missense_Mutation_p.T219I|TGFBR1_uc011lvc.1_Missense_Mutation_p.T227I	p.T296I	NM_004612	NP_004603	P36897	TGFR1_HUMAN			5	963	+		Acute lymphoblastic leukemia(62;0.0559)	296			Protein kinase.|Cytoplasmic (Potential).		Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	ENST00000374994.4	37	c.887C>T	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071330	0.76301	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000550253	D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91727	0.7384	L	0.52266	1.64	0.80722	D	1	B;P	0.38978	0.304;0.652	B;B	0.37833	0.067;0.259	D	0.90551	0.4509	10	0.40728	T	0.16	.	19.3531	0.94398	0.0:1.0:0.0:0.0	.	219;296	P36897-3;P36897	.;TGFR1_HUMAN	I	296;296;219;300;227	ENSP00000364133:T296I;ENSP00000364129:T219I;ENSP00000447297:T300I;ENSP00000450052:T227I	ENSP00000364129:T219I	T	+	2	0	TGFBR1	100944720	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.731000	0.84895	2.941000	0.99782	0.655000	0.94253	ACA		0.418	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3			8	132	0	0	0	0.004482	0	8	132				
ALG2	85365	broad.mit.edu	37	9	101980430	101980430	+	Missense_Mutation	SNP	G	G	A	rs544811110		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:101980430G>A	ENST00000476832.1	-	2	1098	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	ALG2_ENST00000319033.6_Missense_Mutation_p.S253L	NM_033087.3	NP_149078.1	O75340	PDCD6_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	0					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)	p.S346L(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				GGGTCCACCCGAATTAACAGC	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		21240	0.0		0.001	False		,,,				2504	0.0						uc004azf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1036-1038)TCG>TTG		alpha-1,3-mannosyltransferase ALG2							86.0	77.0	80.0					9																	101980430		2203	4300	6503	SO:0001583	missense	85365				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding	g.chr9:101980430G>A	AK027417	CCDS6739.1	9q31.1	2013-02-22	2013-02-22		ENSG00000119523	ENSG00000119523	2.4.1.132, 2.4.1.257	"""Glycosyltransferase group 1 domain containing"""	23159	protein-coding gene	gene with protein product		607905	"""asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)"""			12684507	Standard	NR_024532		Approved	CDGIi, FLJ14511, hALPG2, NET38	uc004azf.3	Q9H553	OTTHUMG00000020355	ENST00000476832.1:c.1037C>T	9.37:g.101980430G>A	ENSP00000417764:p.Ser346Leu					ALG2_uc004azg.2_Missense_Mutation_p.S253L	p.S346L	NM_033087	NP_149078	Q9H553	ALG2_HUMAN			2	1107	-		Acute lymphoblastic leukemia(62;0.0559)	346					B2RD16|E7ESR3|Q2YDC2|Q5TZS0	Missense_Mutation	SNP	ENST00000476832.1	37	c.1037C>T	CCDS6739.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725804	0.69074	.	.	ENSG00000119523	ENST00000476832;ENST00000319033	T;T	0.78924	-1.22;-1.22	5.78	4.87	0.63330	Glycosyl transferase, family 1 (1);	0.110207	0.64402	D	0.000004	D	0.88573	0.6473	M	0.83384	2.64	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70716	0.965;0.97	D	0.90382	0.4389	10	0.66056	D	0.02	-9.322	16.778	0.85556	0.0:0.0:0.8703:0.1297	.	253;346	Q9H553-2;Q9H553	.;ALG2_HUMAN	L	346;253	ENSP00000417764:S346L;ENSP00000326609:S253L	ENSP00000432675:S253L	S	-	2	0	ALG2	101020251	1.000000	0.71417	0.594000	0.28785	0.290000	0.27261	7.579000	0.82511	1.560000	0.49568	0.655000	0.94253	TCG		0.507	ALG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215080.1	NM_033087		11	104	0	0	0	0.008291	0	11	104				
OR13F1	138805	broad.mit.edu	37	9	107267441	107267441	+	Missense_Mutation	SNP	G	G	T	rs376941624		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:107267441G>T	ENST00000334726.2	+	1	987	c.898G>T	c.(898-900)Gcc>Tcc	p.A300S		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A300S(2)		endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGTGAAAGTGGCCTTGAAAAA	0.358																																							uc011lvm.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)|skin(1)	3						c.(898-900)GCC>TCC		olfactory receptor, family 13, subfamily F,							44.0	46.0	46.0					9																	107267441		2203	4300	6503	SO:0001583	missense	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107267441G>T		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.898G>T	9.37:g.107267441G>T	ENSP00000334452:p.Ala300Ser						p.A300S	NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN			1	898	+			300			Cytoplasmic (Potential).		Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	c.898G>T	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.869976	0.51588	.	.	ENSG00000186881	ENST00000334726	T	0.44482	0.92	4.3	3.41	0.39046	.	0.000000	0.50627	D	0.000106	T	0.49270	0.1547	L	0.39245	1.2	0.24623	N	0.993669	D	0.76494	0.999	D	0.64042	0.921	T	0.32455	-0.9906	10	0.66056	D	0.02	.	9.9039	0.41364	0.0:0.0:0.7969:0.2031	.	300	Q8NGS4	O13F1_HUMAN	S	300	ENSP00000334452:A300S	ENSP00000334452:A300S	A	+	1	0	OR13F1	106307262	0.627000	0.27129	0.579000	0.28588	0.776000	0.43924	2.020000	0.41010	1.420000	0.47138	-0.122000	0.15005	GCC		0.358	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			9	69	1	0	1.12685e-05	0.004482	1.23671e-05	9	69				
OR13C8	138802	broad.mit.edu	37	9	107332060	107332060	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:107332060G>T	ENST00000335040.1	+	1	612	c.612G>T	c.(610-612)ctG>ctT	p.L204L		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L204L(3)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						GGTCGAATCTGATTGTTCTGG	0.353																																							uc011lvo.1		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(1)|skin(1)	2						c.(610-612)CTG>CTT		olfactory receptor, family 13, subfamily C,							224.0	217.0	219.0					9																	107332060		2203	4300	6503	SO:0001819	synonymous_variant	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107332060G>T		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.612G>T	9.37:g.107332060G>T							p.L204L	NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN			1	612	+			204			Helical; Name=5; (Potential).		Q5VVG0|Q96R44	Silent	SNP	ENST00000335040.1	37	c.612G>T	CCDS35090.1																																																																																				0.353	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			31	131	1	0	3.1745e-13	0.008361	4.51535e-13	31	131				
SVEP1	79987	broad.mit.edu	37	9	113221313	113221313	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:113221313C>A	ENST00000401783.2	-	19	3739	c.3403G>T	c.(3403-3405)Gca>Tca	p.A1135S	SVEP1_ENST00000302728.8_Missense_Mutation_p.A1135S|SVEP1_ENST00000374469.1_Missense_Mutation_p.A1112S|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1135					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.A1135S(2)		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						GCCTTCCCTGCATTAGGTTGG	0.463																																							uc010mtz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)	7						c.(3403-3405)GCA>TCA		polydom							129.0	126.0	127.0					9																	113221313		1912	4122	6034	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113221313C>A	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.3403G>T	9.37:g.113221313C>A	ENSP00000384917:p.Ala1135Ser					SVEP1_uc010mua.1_Missense_Mutation_p.A1135S	p.A1135S	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			19	3740	-			1135					Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.3403G>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	2.886	-0.230809	0.05983	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.15834	2.39;2.39;2.39	5.6	-2.35	0.06684	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.416158	0.28538	N	0.014981	T	0.08403	0.0209	N	0.21097	0.63	0.19945	N	0.999949	B;B	0.31655	0.334;0.081	B;B	0.34038	0.174;0.089	T	0.41324	-0.9515	10	0.08599	T	0.76	.	8.8464	0.35172	0.1858:0.4451:0.3691:0.0	.	1135;1135	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	S	1135;1112;1135	ENSP00000384917:A1135S;ENSP00000363593:A1112S;ENSP00000304118:A1135S	ENSP00000304118:A1135S	A	-	1	0	SVEP1	112261134	0.052000	0.20516	0.004000	0.12327	0.095000	0.18619	0.284000	0.18864	-0.844000	0.04184	-1.058000	0.02302	GCA		0.463	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				35	229	1	0	2.20262e-25	0.002836	3.92684e-25	35	229				
OR2K2	26248	broad.mit.edu	37	9	114090287	114090287	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:114090287G>T	ENST00000374428.1	-	1	513	c.514C>A	c.(514-516)Cgg>Agg	p.R172R	OR2K2_ENST00000302681.1_Silent_p.R143R			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R172R(2)|p.R143R(2)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GTAGCCATCCGTGCACAGACG	0.547																																							uc011lwp.1		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)	1						c.(427-429)CGG>AGG		olfactory receptor, family 2, subfamily K,							104.0	83.0	90.0					9																	114090287		2203	4300	6503	SO:0001819	synonymous_variant	26248				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:114090287G>T	X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"""GPCR / Class A : Olfactory receptors"""	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.514C>A	9.37:g.114090287G>T							p.R143R	NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN			1	427	-			172			Helical; Name=4; (Potential).		Q2TA61|Q5VYK4|Q6IFI5	Silent	SNP	ENST00000374428.1	37	c.427C>A																																																																																					0.547	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		NM_205859		93	79	1	0	6.08224e-66	0.00361	1.26126e-65	93	79				
AKNA	80709	broad.mit.edu	37	9	117139580	117139580	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:117139580C>A	ENST00000307564.4	-	3	668	c.507G>T	c.(505-507)agG>agT	p.R169S	AKNA_ENST00000374075.5_Missense_Mutation_p.R88S|AKNA_ENST00000223791.3_5'Flank|AKNA_ENST00000312033.3_Missense_Mutation_p.R169S|AKNA_ENST00000374088.3_Missense_Mutation_p.R169S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	169					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|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.R169S(2)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CCACCCAGCCCCTGGCCTGAC	0.592																																							uc004biq.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)	6						c.(505-507)AGG>AGT		AT-hook transcription factor							54.0	50.0	51.0					9																	117139580		2203	4300	6503	SO:0001583	missense	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117139580C>A	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.507G>T	9.37:g.117139580C>A	ENSP00000303769:p.Arg169Ser					AKNA_uc004bio.3_5'Flank|AKNA_uc004bip.3_Missense_Mutation_p.R88S|AKNA_uc004bir.3_Missense_Mutation_p.R169S|AKNA_uc004bis.3_Missense_Mutation_p.R169S|AKNA_uc010mve.2_Missense_Mutation_p.R50S|AKNA_uc004biu.1_Intron|AKNA_uc004biv.1_Missense_Mutation_p.R169S|AKNA_uc004biw.1_Missense_Mutation_p.R169S	p.R169S	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN			2	642	-			169					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	c.507G>T	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815474	0.32145	.	.	ENSG00000106948	ENST00000307564;ENST00000374088;ENST00000374075;ENST00000312033;ENST00000394574	T;T;T;T	0.32272	2.69;2.69;2.69;1.46	4.64	-5.92	0.02261	.	1.895520	0.02794	N	0.122432	T	0.17619	0.0423	N	0.19112	0.55	0.09310	N	1	B;B;B	0.32829	0.058;0.012;0.386	B;B;B	0.34242	0.015;0.006;0.178	T	0.15321	-1.0441	10	0.48119	T	0.1	1.2859	3.5891	0.07982	0.127:0.4484:0.1292:0.2953	.	169;169;88	Q7Z591-6;Q7Z591;Q7Z591-2	.;AKNA_HUMAN;.	S	169;169;88;169;169	ENSP00000303769:R169S;ENSP00000363201:R169S;ENSP00000363188:R88S;ENSP00000309222:R169S	ENSP00000303769:R169S	R	-	3	2	AKNA	116179401	0.000000	0.05858	0.001000	0.08648	0.346000	0.29079	-2.938000	0.00684	-1.136000	0.02892	-0.379000	0.06801	AGG		0.592	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		37	62	1	0	2.79145e-41	0.00361	5.54071e-41	37	62				
PAPPA	5069	broad.mit.edu	37	9	118969862	118969862	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:118969862G>A	ENST00000328252.3	+	3	1975	c.1606G>A	c.(1606-1608)Gag>Aag	p.E536K	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	536	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E536K(2)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ATGGGACAAGGAGGCCCTGAT	0.433																																							uc004bjn.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(4)|pancreas(1)	9						c.(1606-1608)GAG>AAG		pregnancy-associated plasma protein A							72.0	68.0	69.0					9																	118969862		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118969862G>A		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1606G>A	9.37:g.118969862G>A	ENSP00000330658:p.Glu536Lys					PAPPA_uc011lxp.1_Missense_Mutation_p.E329K|PAPPA_uc011lxq.1_Intron	p.E536K	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			3	1987	+			536			Metalloprotease.		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.1606G>A	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	35	5.519247	0.96416	.	.	ENSG00000182752	ENST00000328252;ENST00000443904	T	0.02050	4.48	6.07	6.07	0.98685	Metallopeptidase, catalytic domain (1);	0.044586	0.85682	N	0.000000	T	0.10380	0.0254	L	0.44542	1.39	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.969	T	0.00759	-1.1578	10	0.72032	D	0.01	-24.8289	20.6439	0.99570	0.0:0.0:1.0:0.0	.	78;536	E7EMD3;Q13219	.;PAPP1_HUMAN	K	536;78	ENSP00000330658:E536K	ENSP00000330658:E536K	E	+	1	0	PAPPA	118009683	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.827000	0.99397	2.884000	0.98904	0.655000	0.94253	GAG		0.433	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		42	56	0	0	0	0.002522	0	42	56				
PAPPA	5069	broad.mit.edu	37	9	118982315	118982315	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:118982315C>A	ENST00000328252.3	+	5	2387	c.2018C>A	c.(2017-2019)gCg>gAg	p.A673E	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	673					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A673E(2)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AGGAAACCAGCGCCTGTTGCC	0.572																																							uc004bjn.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(4)|pancreas(1)	9						c.(2017-2019)GCG>GAG		pregnancy-associated plasma protein A							140.0	136.0	137.0					9																	118982315		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118982315C>A		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2018C>A	9.37:g.118982315C>A	ENSP00000330658:p.Ala673Glu					PAPPA_uc011lxp.1_Missense_Mutation_p.A368E|PAPPA_uc011lxq.1_Intron	p.A673E	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			5	2399	+			673					B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.2018C>A	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400096	0.62177	.	.	ENSG00000182752	ENST00000328252;ENST00000443904	T	0.01854	4.6	5.99	5.08	0.68730	.	0.265266	0.44097	D	0.000481	T	0.05731	0.0150	L	0.45581	1.43	0.80722	D	1	D;P	0.57257	0.979;0.799	P;B	0.54664	0.758;0.289	T	0.29792	-1.0000	10	0.66056	D	0.02	-10.0937	10.4411	0.44466	0.0:0.7959:0.1352:0.0689	.	117;673	E7EMD3;Q13219	.;PAPP1_HUMAN	E	673;117	ENSP00000330658:A673E	ENSP00000330658:A673E	A	+	2	0	PAPPA	118022136	0.990000	0.36364	0.994000	0.49952	0.883000	0.51084	4.043000	0.57354	1.500000	0.48636	0.655000	0.94253	GCG		0.572	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		127	284	1	0	2.68169e-52	0.00361	5.48876e-52	127	284				
CIZ1	25792	broad.mit.edu	37	9	130941545	130941545	+	Missense_Mutation	SNP	C	C	G	rs111464781		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:130941545C>G	ENST00000393608.1	-	8	1143	c.941G>C	c.(940-942)cGg>cCg	p.R314P	CIZ1_ENST00000541172.1_Missense_Mutation_p.R213P|CIZ1_ENST00000372948.3_Missense_Mutation_p.R314P|CIZ1_ENST00000372954.1_Missense_Mutation_p.R290P|CIZ1_ENST00000325721.8_Missense_Mutation_p.R285P|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000357558.5_Missense_Mutation_p.R314P|CIZ1_ENST00000372938.5_Missense_Mutation_p.R314P|CIZ1_ENST00000538431.1_Missense_Mutation_p.R314P|CIZ1_ENST00000277465.4_Missense_Mutation_p.R314P	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	314	Gln-rich.				maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R314P(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						CTGCAGGACCCGTGGCTGGAA	0.632																																							uc004btt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)	4						c.(940-942)CGG>CCG		CDKN1A interacting zinc finger protein 1 isoform							88.0	88.0	88.0					9																	130941545		2203	4300	6503	SO:0001583	missense	25792					nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr9:130941545C>G	AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.941G>C	9.37:g.130941545C>G	ENSP00000377232:p.Arg314Pro					CIZ1_uc004btr.2_Missense_Mutation_p.R314P|CIZ1_uc004bts.2_Missense_Mutation_p.R285P|CIZ1_uc011maq.1_Missense_Mutation_p.R309P|CIZ1_uc004btu.2_Missense_Mutation_p.R290P|CIZ1_uc011mar.1_Missense_Mutation_p.R213P|CIZ1_uc011mas.1_Missense_Mutation_p.R344P|CIZ1_uc004btw.2_Missense_Mutation_p.R314P|CIZ1_uc004btv.2_Missense_Mutation_p.R314P|CIZ1_uc004btx.2_Missense_Mutation_p.R290P	p.R314P	NM_001131016	NP_001124488	Q9ULV3	CIZ1_HUMAN			8	1104	-			314			Gln-rich.		A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	ENST00000393608.1	37	c.941G>C	CCDS6894.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977097	0.53720	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372941;ENST00000372948;ENST00000372938;ENST00000415526	T;T;T;T;T;T;T;T;T;T	0.38722	1.14;1.13;1.18;1.56;1.18;1.41;1.56;1.12;1.13;1.71	4.55	-0.41	0.12374	.	0.670999	0.13165	N	0.408738	T	0.41166	0.1147	L	0.29908	0.895	0.09310	N	1	B;D;B;D;D;D;B;D	0.69078	0.003;0.995;0.008;0.997;0.997;0.995;0.006;0.995	B;P;B;D;D;P;B;P	0.63597	0.007;0.826;0.008;0.916;0.916;0.826;0.017;0.826	T	0.27262	-1.0079	10	0.29301	T	0.29	-19.8727	5.5054	0.16850	0.0:0.5301:0.1372:0.3328	.	314;309;314;314;290;314;285;314	B7Z3U7;B4E0A3;F5H2X7;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;.;CIZ1_HUMAN;.;.	P	290;314;314;314;285;281;213;314;290;314;314;236	ENSP00000362045:R290P;ENSP00000377232:R314P;ENSP00000439244:R314P;ENSP00000350169:R314P;ENSP00000320374:R285P;ENSP00000445057:R213P;ENSP00000277465:R314P;ENSP00000362039:R314P;ENSP00000362029:R314P;ENSP00000398011:R236P	ENSP00000277465:R314P	R	-	2	0	CIZ1	129981366	0.000000	0.05858	0.283000	0.24790	0.934000	0.57294	-0.359000	0.07632	-0.065000	0.13021	-0.218000	0.12543	CGG		0.632	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127		32	86	0	0	0	0.00623	0	32	86				
SETX	23064	broad.mit.edu	37	9	135206746	135206746	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:135206746C>T	ENST00000224140.5	-	8	1110	c.928G>A	c.(928-930)Gat>Aat	p.D310N	SETX_ENST00000372169.2_Missense_Mutation_p.D310N|SETX_ENST00000393220.1_Missense_Mutation_p.D310N	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	310					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.D310N(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACAATAGGATCCATAAGTTGA	0.423																																							uc004cbk.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(928-930)GAT>AAT		senataxin							151.0	133.0	139.0					9																	135206746		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135206746C>T	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.928G>A	9.37:g.135206746C>T	ENSP00000224140:p.Asp310Asn					SETX_uc004cbj.2_5'Flank|SETX_uc010mzt.2_5'Flank	p.D310N	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	8	1111	-		Myeloproliferative disorder(178;0.204)	310					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.928G>A	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	33	5.208806	0.95069	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	T;T;T	0.64438	-0.1;-0.1;-0.1	6.17	6.17	0.99709	.	0.126884	0.53938	D	0.000050	T	0.73249	0.3563	L	0.32530	0.975	0.44373	D	0.997278	D	0.89917	1.0	D	0.91635	0.999	T	0.73845	-0.3854	10	0.87932	D	0	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	310	Q7Z333	SETX_HUMAN	N	310	ENSP00000224140:D310N;ENSP00000361242:D310N;ENSP00000376913:D310N	ENSP00000224140:D310N	D	-	1	0	SETX	134196567	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	6.013000	0.70776	2.941000	0.99782	0.655000	0.94253	GAT		0.423	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		15	63	0	0	0	0.00245	0	15	63				
PPP1R26	9858	broad.mit.edu	37	9	138378101	138378101	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:138378101T>G	ENST00000356818.2	+	4	2294	c.1745T>G	c.(1744-1746)cTc>cGc	p.L582R	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Missense_Mutation_p.L582R|PPP1R26_ENST00000605660.1_Missense_Mutation_p.L582R|PPP1R26_ENST00000605286.1_Missense_Mutation_p.L582R|PPP1R26_ENST00000604351.1_Missense_Mutation_p.L582R	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	582					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)	p.L582R(2)									AAGACCCCTCTCTCTAAAACA	0.612																																							uc004cfr.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(1744-1746)CTC>CGC		1A6/DRIM (down-regulated in metastasis)							47.0	55.0	52.0					9																	138378101		2196	4291	6487	SO:0001583	missense	9858					nucleolus	protein binding	g.chr9:138378101T>G	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.1745T>G	9.37:g.138378101T>G	ENSP00000349274:p.Leu582Arg						p.L582R	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)	4	2294	+			582					Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	c.1745T>G	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	T	12.56	1.974245	0.34848	.	.	ENSG00000196422	ENST00000356818	T	0.29917	1.55	5.16	-3.2	0.05156	.	1.008340	0.07965	N	0.982993	T	0.28566	0.0707	N	0.24115	0.695	0.09310	N	1	D	0.53151	0.958	P	0.54312	0.748	T	0.30446	-0.9978	10	0.72032	D	0.01	-0.0209	6.6542	0.22979	0.0:0.372:0.1273:0.5007	.	582	Q5T8A7	PPR26_HUMAN	R	582	ENSP00000349274:L582R	ENSP00000349274:L582R	L	+	2	0	KIAA0649	137517922	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.127000	0.15790	-0.960000	0.03613	0.459000	0.35465	CTC		0.612	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		57	109	0	0	0	0.00361	0	57	109				
SOHLH1	402381	broad.mit.edu	37	9	138586907	138586907	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:138586907C>T	ENST00000298466.5	-	6	924	c.864G>A	c.(862-864)gcG>gcA	p.A288A	SOHLH1_ENST00000425225.1_Silent_p.A288A	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	288					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A288A(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CGGCCTCCTGCGCCAGCATGG	0.697																																							uc004cgl.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(862-864)GCG>GCA		spermatogenesis and oogenesis specific basic							10.0	10.0	10.0					9																	138586907		2135	4214	6349	SO:0001819	synonymous_variant	402381				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr9:138586907C>T	BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"""Basic helix-loop-helix proteins"""	27845	protein-coding gene	gene with protein product	"""spermatogenesis associated 27"""	610224	"""chromosome 9 open reading frame 157"""	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.864G>A	9.37:g.138586907C>T						SOHLH1_uc010nbe.2_Silent_p.A288A	p.A288A	NM_001012415	NP_001012415	Q5JUK2	SOLH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)	6	925	-		Myeloproliferative disorder(178;0.0511)	288					C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Silent	SNP	ENST00000298466.5	37	c.864G>A	CCDS35174.1																																																																																				0.697	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2	NM_001012415		3	22	0	0	0	0.004672	0	3	22				
CACNA1B	774	broad.mit.edu	37	9	140972591	140972591	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:140972591G>T	ENST00000371372.1	+	36	5120	c.4975G>T	c.(4975-4977)Gag>Tag	p.E1659*	CACNA1B_ENST00000277549.5_Nonsense_Mutation_p.E853*|CACNA1B_ENST00000371363.1_Nonsense_Mutation_p.E1657*|CACNA1B_ENST00000371355.4_Nonsense_Mutation_p.E1660*|CACNA1B_ENST00000371365.2_Nonsense_Mutation_p.E23*|CACNA1B_ENST00000277551.2_Nonsense_Mutation_p.E1659*|CACNA1B_ENST00000371357.1_Nonsense_Mutation_p.E1658*	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1659					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.E1659*(2)|p.E23*(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCCTGGCACGAGATCATGCT	0.607																																							uc004cog.2		NA																	4	Substitution - Nonsense(4)		lung(4)	breast(3)|large_intestine(2)|ovary(1)	6						c.(4975-4977)GAG>TAG		calcium channel, voltage-dependent, N type,	Amlodipine(DB00381)|Gabapentin(DB00996)						120.0	122.0	121.0					9																	140972591		2146	4248	6394	SO:0001587	stop_gained	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140972591G>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.4975G>T	9.37:g.140972591G>T	ENSP00000360423:p.Glu1659*					CACNA1B_uc004coi.2_Nonsense_Mutation_p.E871*|CACNA1B_uc004cok.1_RNA|CACNA1B_uc010ncp.1_Nonsense_Mutation_p.E14*	p.E1659*	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	35	5120	+	all_cancers(76;0.166)		1659			IV.|Extracellular (Potential).		B1AQK5	Nonsense_Mutation	SNP	ENST00000371372.1	37	c.4975G>T	CCDS59522.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.467382|6.467382	0.97590|0.97590	.|.	.|.	ENSG00000148408|ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355;ENST00000371365|ENST00000413253	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.054132|.	0.64402|.	D|.	0.000001|.	.|T	.|0.79759	.|0.4501	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77792	.|-0.2455	.|3	0.72032|.	D|.	0.01|.	.|.	19.7691|19.7691	0.96356|0.96356	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	1659;1659;853;1657;1658;1660;23|23	.|.	ENSP00000277549:E853X|.	E|R	+|+	1|2	0|0	CACNA1B|CACNA1B	140092412|140092412	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.957000|0.957000	0.61999|0.61999	9.657000|9.657000	0.98554|0.98554	2.689000|2.689000	0.91719|0.91719	0.462000|0.462000	0.41574|0.41574	GAG|CGA		0.607	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		9	69	1	0	5.4927e-09	0.004482	6.64862e-09	9	69				
AKAP17A	8227	broad.mit.edu	37	X	1719992	1719992	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:1719992G>T	ENST00000313871.3	+	5	1789	c.1593G>T	c.(1591-1593)gtG>gtT	p.V531V		NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	531					B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)	p.V531V(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						CCTGTCGTGTGGTCCCCGAGG	0.667																																							uc004cqa.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1591-1593)GTG>GTT		DNA segment on chromosome X and Y (unique) 155							57.0	57.0	57.0					X																	1719992		2203	4296	6499	SO:0001819	synonymous_variant	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1719992G>T	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"""Pseudoautosomal regions / PAR1"", ""A-kinase anchor proteins"""	18783	protein-coding gene	gene with protein product		312095, 465000	"""chromosome X and Y open reading frame 3"", ""splicing factor, arginine/serine-rich 17A"""	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.1593G>T	X.37:g.1719992G>T						SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_Intron	p.V531V	NM_005088	NP_005079	Q02040	AK17A_HUMAN			5	1789	+		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)	531					Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Silent	SNP	ENST00000313871.3	37	c.1593G>T	CCDS14116.1																																																																																				0.667	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		6	47	1	0	3.59834e-05	0.001168	3.8949e-05	6	47				
ARSH	347527	broad.mit.edu	37	X	2936699	2936699	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:2936699G>T	ENST00000381130.2	+	5	889	c.889G>T	c.(889-891)Gat>Tat	p.D297Y		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	297					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.D297Y(2)		breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AGAAGAAATGGATTGGATGGT	0.398																																							uc011mhj.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(889-891)GAT>TAT		arylsulfatase family, member H							106.0	102.0	103.0					X																	2936699		2203	4300	6503	SO:0001583	missense	347527					integral to membrane	arylsulfatase activity|metal ion binding	g.chrX:2936699G>T	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.889G>T	X.37:g.2936699G>T	ENSP00000370522:p.Asp297Tyr						p.D297Y	NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN			5	889	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	297						Missense_Mutation	SNP	ENST00000381130.2	37	c.889G>T	CCDS35198.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303515	0.60195	.	.	ENSG00000205667	ENST00000381130	D	0.99748	-6.62	3.87	3.87	0.44632	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99883	0.9944	H	0.99922	4.955	0.51012	D	0.999903	D	0.89917	1.0	D	0.97110	1.0	D	0.95925	0.8934	10	0.87932	D	0	.	15.1943	0.73075	0.0:0.0:1.0:0.0	.	297	Q5FYA8	ARSH_HUMAN	Y	297	ENSP00000370522:D297Y	ENSP00000370522:D297Y	D	+	1	0	ARSH	2946699	1.000000	0.71417	0.543000	0.28128	0.868000	0.49771	7.227000	0.78070	1.568000	0.49683	0.594000	0.82650	GAT		0.398	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		7	27	1	0	0.00198382	0.001984	0.00206506	7	27				
MXRA5	25878	broad.mit.edu	37	X	3228247	3228247	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:3228247T>A	ENST00000217939.6	-	7	8151	c.7997A>T	c.(7996-7998)cAg>cTg	p.Q2666L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2666	Ig-like C2-type 11.					extracellular vesicular exosome (GO:0070062)		p.Q2666L(4)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GAAACGTCCCTGCCCAGCCCC	0.592																																							uc004crg.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(7996-7998)CAG>CTG		adlican precursor							58.0	56.0	56.0					X																	3228247		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3228247T>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.7997A>T	X.37:g.3228247T>A	ENSP00000217939:p.Gln2666Leu						p.Q2666L	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			7	8154	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2666			Ig-like C2-type 11.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.7997A>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	T	1.501	-0.551929	0.03996	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.11495	2.77	4.47	-8.94	0.00768	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	4.234130	0.00960	U	0.003085	T	0.08088	0.0202	N	0.25380	0.74	0.09310	N	1	P	0.38677	0.642	B	0.36808	0.233	T	0.16988	-1.0384	10	0.33940	T	0.23	.	11.6426	0.51242	0.0:0.2678:0.5121:0.2201	.	2666	Q9NR99	MXRA5_HUMAN	L	2666	ENSP00000217939:Q2666L	ENSP00000217939:Q2666L	Q	-	2	0	MXRA5	3238247	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.171000	0.03115	-4.272000	0.00060	-1.369000	0.01192	CAG		0.592	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		28	72	0	0	0	0.00632	0	28	72				
MXRA5	25878	broad.mit.edu	37	X	3235361	3235361	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:3235361C>T	ENST00000217939.6	-	6	6515	c.6361G>A	c.(6361-6363)Gag>Aag	p.E2121K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2121	Ig-like C2-type 5.					extracellular vesicular exosome (GO:0070062)		p.E2121K(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCCACGCACTCATAGCGCCCG	0.672																																							uc004crg.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(6361-6363)GAG>AAG		adlican precursor							37.0	30.0	33.0					X																	3235361		2202	4300	6502	SO:0001583	missense	25878					extracellular region		g.chrX:3235361C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6361G>A	X.37:g.3235361C>T	ENSP00000217939:p.Glu2121Lys						p.E2121K	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			6	6518	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2121			Ig-like C2-type 5.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.6361G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	22.5	4.300835	0.81136	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	D	0.95949	-3.86	3.63	3.63	0.41609	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37012	U	0.002295	D	0.96253	0.8778	L	0.51853	1.615	0.39323	D	0.965282	D	0.89917	1.0	D	0.79784	0.993	D	0.95257	0.8365	10	0.25751	T	0.34	.	15.1094	0.72343	0.0:1.0:0.0:0.0	.	2121	Q9NR99	MXRA5_HUMAN	K	2121	ENSP00000217939:E2121K	ENSP00000217939:E2121K	E	-	1	0	MXRA5	3245361	0.998000	0.40836	1.000000	0.80357	0.951000	0.60555	3.138000	0.50570	1.440000	0.47531	0.597000	0.82753	GAG		0.672	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		3	8	0	0	0	0.004672	0	3	8				
MXRA5	25878	broad.mit.edu	37	X	3248432	3248432	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:3248432G>T	ENST00000217939.6	-	4	490	c.336C>A	c.(334-336)taC>taA	p.Y112*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	112						extracellular vesicular exosome (GO:0070062)		p.Y112*(4)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCAGCTTGTTGTAGCTGAACT	0.428																																							uc004crg.3		NA																	4	Substitution - Nonsense(4)		lung(4)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(334-336)TAC>TAA		adlican precursor							48.0	43.0	45.0					X																	3248432		2203	4300	6503	SO:0001587	stop_gained	25878					extracellular region		g.chrX:3248432G>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.336C>A	X.37:g.3248432G>T	ENSP00000217939:p.Tyr112*						p.Y112*	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			4	493	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	112			LRR 3.		Q6P1M7|Q9Y3Y8	Nonsense_Mutation	SNP	ENST00000217939.6	37	c.336C>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	G	36	5.868326	0.97043	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	.	.	.	3.56	2.69	0.31865	.	0.000000	0.34959	U	0.003560	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.704	0.45944	0.0989:0.0:0.9011:0.0	.	.	.	.	X	112	.	ENSP00000217939:Y112X	Y	-	3	2	MXRA5	3258432	1.000000	0.71417	0.863000	0.33907	0.951000	0.60555	3.328000	0.52052	0.506000	0.28125	0.597000	0.82753	TAC		0.428	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		7	13	1	0	8.12818e-05	0.001984	8.70246e-05	7	13				
FRMPD4	9758	broad.mit.edu	37	X	12734443	12734443	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:12734443A>G	ENST00000380682.1	+	15	2371	c.1865A>G	c.(1864-1866)tAc>tGc	p.Y622C		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	622					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.Y612C(2)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GAGGCAGACTACAGAAGTCTA	0.512																																							uc004cuz.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						c.(1864-1866)TAC>TGC		FERM and PDZ domain containing 4							81.0	81.0	81.0					X																	12734443		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12734443A>G	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.1865A>G	X.37:g.12734443A>G	ENSP00000370057:p.Tyr622Cys					FRMPD4_uc011mij.1_Missense_Mutation_p.Y614C	p.Y622C	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN			15	2371	+			622					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.1865A>G	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	A	15.02	2.710481	0.48517	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.24538	1.85	5.86	3.12	0.35913	.	0.477666	0.23852	N	0.043937	T	0.28333	0.0700	L	0.47716	1.5	0.23366	N	0.997828	D;D	0.65815	0.979;0.995	P;P	0.52856	0.535;0.711	T	0.08186	-1.0734	10	0.51188	T	0.08	.	4.717	0.12899	0.632:0.1745:0.1935:0.0	.	614;622	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	C	622;613;611	ENSP00000370057:Y622C	ENSP00000304583:Y611C	Y	+	2	0	FRMPD4	12644364	1.000000	0.71417	0.646000	0.29493	0.739000	0.42172	2.784000	0.47774	0.819000	0.34492	0.486000	0.48141	TAC		0.512	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		29	71	0	0	0	0.007291	0	29	71				
DDX53	168400	broad.mit.edu	37	X	23018528	23018528	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:23018528C>T	ENST00000327968.5	+	1	442	c.354C>T	c.(352-354)agC>agT	p.S118S	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	118						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)	p.S118S(2)		breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						AACAAGAAAGCTACAACTCAG	0.403																																							uc004daj.2		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|ovary(1)|kidney(1)	3						c.(352-354)AGC>AGT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 53							101.0	98.0	99.0					X																	23018528		2203	4300	6503	SO:0001819	synonymous_variant	168400					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chrX:23018528C>T	AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"""DEAD-boxes"""	20083	protein-coding gene	gene with protein product	"""cancer associated gene"", ""cancer/testis antigen 26"""						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.354C>T	X.37:g.23018528C>T							p.S118S	NM_182699	NP_874358	Q86TM3	DDX53_HUMAN			1	442	+			118					Q0D2N2|Q6NVV4	Silent	SNP	ENST00000327968.5	37	c.354C>T	CCDS35214.1																																																																																				0.403	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699		23	52	0	0	0	0.00278	0	23	52				
MAGEB3	4114	broad.mit.edu	37	X	30254905	30254905	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:30254905C>T	ENST00000361644.2	+	5	1601	c.864C>T	c.(862-864)gtC>gtT	p.V288V		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	288	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.V288V(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						AGATGAAGGTCCTGGAGTTTT	0.493																																							uc004dca.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(862-864)GTC>GTT		melanoma antigen family B, 3							99.0	88.0	92.0					X																	30254905		2202	4300	6502	SO:0001819	synonymous_variant	4114							g.chrX:30254905C>T	AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 5"""	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.864C>T	X.37:g.30254905C>T							p.V288V	NM_002365	NP_002356	O15480	MAGB3_HUMAN			5	1601	+			288			MAGE.		A0AVE4|B3KQ52|O75861	Silent	SNP	ENST00000361644.2	37	c.864C>T	CCDS14220.1																																																																																				0.493	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056158.2	NM_002365		11	44	0	0	0	0.008291	0	11	44				
RPGR	6103	broad.mit.edu	37	X	38146132	38146132	+	Intron	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:38146132C>G	ENST00000339363.3	-	14	2688				RPGR_ENST00000378505.2_Missense_Mutation_p.G707A|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000318842.7_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000338898.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)	p.G707A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						ctgctcttccccatccctctt	0.537																																							uc004ded.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2119-2121)GGG>GCG		retinitis pigmentosa GTPase regulator isoform C							178.0	119.0	139.0					X																	38146132		2191	4294	6485	SO:0001627	intron_variant	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38146132C>G	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+214G>C	X.37:g.38146132C>G						RPGR_uc004deb.2_Intron|RPGR_uc004dea.2_Intron|RPGR_uc004dec.2_Intron	p.G707A	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN			15	2288	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37	c.2120G>C		.	.	.	.	.	.	.	.	.	.	c	2.562	-0.301678	0.05495	.	.	ENSG00000156313	ENST00000378505	T	0.02216	4.39	1.92	-2.58	0.06228	.	0.449360	0.16474	U	0.212823	T	0.02012	0.0063	L	0.47716	1.5	0.09310	N	1	B	0.24426	0.103	B	0.15484	0.013	T	0.39961	-0.9588	10	0.34782	T	0.22	.	6.1431	0.20271	0.0:0.5031:0.0:0.4969	.	707	E9PE28	.	A	707	ENSP00000367766:G707A	ENSP00000367766:G707A	G	-	2	0	RPGR	38031076	0.008000	0.16893	0.000000	0.03702	0.023000	0.10783	0.725000	0.25970	-0.674000	0.05253	0.165000	0.16767	GGG		0.537	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		4	11	0	0	0	0.009096	0	4	11				
RBM10	8241	broad.mit.edu	37	X	47032551	47032551	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:47032551G>T	ENST00000377604.3	+	5	1199	c.457G>T	c.(457-459)Ggc>Tgc	p.G153C	RBM10_ENST00000329236.7_Missense_Mutation_p.G76C|RBM10_ENST00000345781.6_Missense_Mutation_p.G76C	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	153	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)	p.G153C(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GCAGTCGCACGGCGTGCAAGC	0.607																																					Melanoma(171;120 2705 19495 39241)	Melanoma(171;120 2705 19495 39241)	uc004dhf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						c.(457-459)GGC>TGC		RNA binding motif protein 10 isoform 1							91.0	73.0	79.0					X																	47032551		2203	4300	6503	SO:0001583	missense	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47032551G>T	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.457G>T	X.37:g.47032551G>T	ENSP00000366829:p.Gly153Cys					RBM10_uc004dhe.1_Missense_Mutation_p.G143C|RBM10_uc004dhg.2_Missense_Mutation_p.G76C|RBM10_uc004dhh.2_Missense_Mutation_p.G153C|RBM10_uc010nhq.2_Missense_Mutation_p.G76C|RBM10_uc004dhi.2_Missense_Mutation_p.G218C	p.G153C	NM_005676	NP_005667	P98175	RBM10_HUMAN			5	836	+			153			RRM 1.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	c.457G>T	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802429	0.70682	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.71579	-0.58;1.98;1.98	3.81	3.81	0.43845	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.066986	0.64402	D	0.000019	D	0.88024	0.6326	H	0.96748	3.875	0.47065	D	0.999301	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.993	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.999;0.964	D	0.90446	0.4435	10	0.87932	D	0	-6.1258	10.7407	0.46152	0.0:0.0:1.0:0.0	.	76;218;153;76;153;25	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175;Q6PKH5	.;.;.;.;RBM10_HUMAN;.	C	153;76;76	ENSP00000366829:G153C;ENSP00000328848:G76C;ENSP00000329659:G76C	ENSP00000328848:G76C	G	+	1	0	RBM10	46917495	1.000000	0.71417	0.981000	0.43875	0.949000	0.60115	7.991000	0.88244	1.641000	0.50575	0.436000	0.28706	GGC		0.607	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		11	14	1	0	1.08611e-07	0.000978	1.25308e-07	11	14				
ARAF	369	broad.mit.edu	37	X	47426307	47426307	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:47426307G>T	ENST00000377045.4	+	8	918	c.724G>T	c.(724-726)Gat>Tat	p.D242Y	ARAF_ENST00000290277.6_Intron	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	242					cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)	p.D242Y(2)		biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	TTTCAGCACTGATGGTGAGTC	0.587																																							uc011mlq.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(3)|lung(2)|ovary(1)|skin(1)	7						c.(724-726)GAT>TAT		v-raf murine sarcoma 3611 viral oncogene	Adenosine triphosphate(DB00171)						134.0	106.0	116.0					X																	47426307		2203	4300	6503	SO:0001583	missense	369				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chrX:47426307G>T	X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"""v-raf murine sarcoma 3611 viral oncogene homolog 1"""	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.724G>T	X.37:g.47426307G>T	ENSP00000366244:p.Asp242Tyr					ARAF_uc011mln.1_Intron|ARAF_uc011mlo.1_Missense_Mutation_p.D108Y|ARAF_uc011mlp.1_Missense_Mutation_p.D242Y|ARAF_uc004dic.1_Missense_Mutation_p.D23Y	p.D242Y	NM_001654	NP_001645	P10398	ARAF_HUMAN			8	857	+			242					P07557|Q5H9B2|Q5H9B3	Missense_Mutation	SNP	ENST00000377045.4	37	c.724G>T	CCDS35232.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.662441	0.29515	.	.	ENSG00000078061	ENST00000377045	T	0.75050	-0.9	5.47	3.28	0.37604	.	1.618960	0.02765	N	0.119049	T	0.73297	0.3569	L	0.49126	1.545	0.80722	D	1	B;B	0.31790	0.34;0.044	B;B	0.34038	0.174;0.025	T	0.52624	-0.8551	10	0.62326	D	0.03	.	9.2064	0.37291	0.1273:0.0:0.8727:0.0	.	242;108	P10398;B4DV85	ARAF_HUMAN;.	Y	242	ENSP00000366244:D242Y	ENSP00000366244:D242Y	D	+	1	0	ARAF	47311251	0.979000	0.34478	0.980000	0.43619	0.976000	0.68499	1.872000	0.39549	0.318000	0.23185	0.544000	0.68410	GAT		0.587	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056418.1			29	59	1	0	1.7881e-09	0.008361	2.19133e-09	29	59				
PJA1	64219	broad.mit.edu	37	X	68381607	68381607	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:68381607T>A	ENST00000361478.1	-	2	1852	c.1475A>T	c.(1474-1476)gAt>gTt	p.D492V	PJA1_ENST00000374583.1_Missense_Mutation_p.D492V|PJA1_ENST00000374584.3_Missense_Mutation_p.D304V|PJA1_ENST00000477231.1_5'Flank|PJA1_ENST00000374571.4_Missense_Mutation_p.D437V	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	492					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D492V(2)|p.D304V(2)		endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						GTTGTTTCCATCCAGCATGAA	0.478																																							uc004dxh.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(1474-1476)GAT>GTT		praja 1 isoform a							162.0	147.0	152.0					X																	68381607		2203	4300	6503	SO:0001583	missense	64219						zinc ion binding	g.chrX:68381607T>A	AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.1475A>T	X.37:g.68381607T>A	ENSP00000355014:p.Asp492Val					PJA1_uc011mpi.1_Missense_Mutation_p.D210V|PJA1_uc004dxg.2_Missense_Mutation_p.D304V|PJA1_uc004dxi.2_Missense_Mutation_p.D437V	p.D492V	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN			2	1761	-			492					A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	ENST00000361478.1	37	c.1475A>T	CCDS14393.1	.	.	.	.	.	.	.	.	.	.	t	12.12	1.841261	0.32513	.	.	ENSG00000181191	ENST00000396010;ENST00000374584;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T;T	0.05996	3.36;3.36;3.36;3.36	3.38	3.38	0.38709	.	0.000000	0.53938	U	0.000044	T	0.18759	0.0450	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.994;0.996	T	0.00376	-1.1779	10	0.59425	D	0.04	-10.3278	9.4326	0.38620	0.0:0.0:0.0:1.0	.	492;304	Q8NG27;Q8NG27-2	PJA1_HUMAN;.	V	407;304;492;492;437	ENSP00000363712:D304V;ENSP00000363711:D492V;ENSP00000355014:D492V;ENSP00000363699:D437V	ENSP00000355014:D492V	D	-	2	0	PJA1	68298332	1.000000	0.71417	0.979000	0.43373	0.175000	0.22909	5.833000	0.69349	1.580000	0.49851	0.341000	0.21757	GAT		0.478	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119		50	78	0	0	0	0.00361	0	50	78				
KIAA2022	340533	broad.mit.edu	37	X	73961382	73961382	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:73961382T>C	ENST00000055682.6	-	3	3621	c.3010A>G	c.(3010-3012)Agt>Ggt	p.S1004G		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1004					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.S1004G(2)		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						CAATAATTACTTGAGCTGACA	0.473																																							uc004eby.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(3010-3012)AGT>GGT		hypothetical protein LOC340533							67.0	59.0	62.0					X																	73961382		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:73961382T>C		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.3010A>G	X.37:g.73961382T>C	ENSP00000055682:p.Ser1004Gly						p.S1004G	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	3627	-			1004					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.3010A>G	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	T	14.80	2.643542	0.47258	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.42131	0.98;0.98	5.58	4.43	0.53597	.	0.203344	0.64402	D	0.000011	T	0.36082	0.0954	L	0.50333	1.59	0.48696	D	0.999697	B	0.33694	0.421	B	0.34452	0.183	T	0.18618	-1.0331	10	0.35671	T	0.21	-0.0582	10.1005	0.42502	0.0:0.0788:0.0:0.9212	.	1004	Q5QGS0	K2022_HUMAN	G	1004	ENSP00000362567:S1004G;ENSP00000055682:S1004G	ENSP00000055682:S1004G	S	-	1	0	KIAA2022	73878107	1.000000	0.71417	0.968000	0.41197	0.847000	0.48162	5.967000	0.70403	1.875000	0.54330	0.486000	0.48141	AGT		0.473	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		17	71	0	0	0	0.00499	0	17	71				
ATP7A	538	broad.mit.edu	37	X	77245130	77245130	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:77245130G>T	ENST00000341514.6	+	4	1167	c.1012G>T	c.(1012-1014)Gta>Tta	p.V338L	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.V338L	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	338	HMA 3. {ECO:0000255|PROSITE- ProRule:PRU00280}.				blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)	p.V338L(4)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AATAGAGGCTGTATCACCGGG	0.418																																							uc004ecx.3		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(1012-1014)GTA>TTA		ATPase, Cu++ transporting, alpha polypeptide							158.0	155.0	156.0					X																	77245130		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77245130G>T	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.1012G>T	X.37:g.77245130G>T	ENSP00000345728:p.Val338Leu					ATP7A_uc004ecw.2_Missense_Mutation_p.V338L	p.V338L	NM_000052	NP_000043	Q04656	ATP7A_HUMAN			4	1172	+			338			HMA 3.|Cytoplasmic (Potential).		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.1012G>T	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	0.032	-1.325316	0.01309	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000355691	D;D	0.86097	-2.07;-2.07	5.67	-6.07	0.02158	Heavy metal-associated domain, HMA (2);	0.402585	0.26518	N	0.023936	T	0.56746	0.2006	N	0.03209	-0.39	0.80722	D	1	B;B	0.13594	0.0;0.008	B;B	0.18263	0.003;0.021	T	0.51980	-0.8636	10	0.02654	T	1	-7.3342	10.1989	0.43071	0.2858:0.1785:0.5358:0.0	.	338;348	Q04656;Q59HD1	ATP7A_HUMAN;.	L	338;338;348	ENSP00000343026:V338L;ENSP00000345728:V338L	ENSP00000345728:V338L	V	+	1	0	ATP7A	77131786	0.002000	0.14202	0.022000	0.16811	0.315000	0.28087	0.058000	0.14301	-1.546000	0.01717	-0.937000	0.02696	GTA		0.418	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		171	113	1	0	7.43762e-64	0.00361	1.53425e-63	171	113				
PCDH11X	27328	broad.mit.edu	37	X	91131866	91131866	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:91131866G>T	ENST00000373094.1	+	2	1472	c.627G>T	c.(625-627)agG>agT	p.R209S	PCDH11X_ENST00000373097.1_Missense_Mutation_p.R209S|PCDH11X_ENST00000298274.8_Missense_Mutation_p.R209S|PCDH11X_ENST00000361724.1_Missense_Mutation_p.R209S|PCDH11X_ENST00000361655.2_Missense_Mutation_p.R209S|PCDH11X_ENST00000373088.1_Missense_Mutation_p.R209S|PCDH11X_ENST00000395337.2_Missense_Mutation_p.R209S|PCDH11X_ENST00000504220.2_Missense_Mutation_p.R209S|PCDH11X_ENST00000406881.1_Missense_Mutation_p.R209S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	209	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R209S(6)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AGTTAGATAGGGAAGAGAAGG	0.403																																					NSCLC(38;925 1092 2571 38200 45895)	NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	6	Substitution - Missense(6)		lung(6)	large_intestine(2)	2						c.(625-627)AGG>AGT		protocadherin 11 X-linked isoform c							189.0	163.0	171.0					X																	91131866		2202	4299	6501	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91131866G>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.627G>T	X.37:g.91131866G>T	ENSP00000362186:p.Arg209Ser					PCDH11X_uc004efl.1_Missense_Mutation_p.R209S|PCDH11X_uc004efo.1_Missense_Mutation_p.R209S|PCDH11X_uc010nmv.1_Missense_Mutation_p.R209S|PCDH11X_uc004efm.1_Missense_Mutation_p.R209S|PCDH11X_uc004efn.1_Missense_Mutation_p.R209S|PCDH11X_uc004efh.1_Missense_Mutation_p.R209S|PCDH11X_uc004efj.1_Missense_Mutation_p.R209S	p.R209S	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	1472	+			209			Extracellular (Potential).|Cadherin 2.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.627G>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053096	0.36181	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25	4.69	-1.26	0.09376	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.80681	0.4669	H	0.97103	3.94	0.39442	D	0.967252	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	0.91635	0.999;0.996;0.999;0.999;0.999;0.999;0.999;0.999	T	0.82462	-0.0445	10	0.87932	D	0	.	11.4805	0.50322	0.6188:0.0:0.3812:0.0	.	209;209;209;209;209;209;209;209	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	S	209	ENSP00000378746:R209S;ENSP00000362186:R209S;ENSP00000362189:R209S;ENSP00000355040:R209S;ENSP00000362180:R209S;ENSP00000423762:R209S;ENSP00000355105:R209S;ENSP00000384758:R209S;ENSP00000298274:R209S	ENSP00000298274:R209S	R	+	3	2	PCDH11X	91018522	0.918000	0.31147	0.992000	0.48379	0.500000	0.33767	-0.036000	0.12185	-0.493000	0.06678	0.544000	0.68410	AGG		0.403	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		102	54	1	0	2.2063e-47	0.00361	4.49241e-47	102	54				
PCDH11X	27328	broad.mit.edu	37	X	91873373	91873373	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:91873373C>A	ENST00000373094.1	+	7	4323	c.3478C>A	c.(3478-3480)Cat>Aat	p.H1160N	PCDH11X_ENST00000373097.1_Missense_Mutation_p.H1150N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.H1123N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.H1142N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.H1123N|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000406881.1_Missense_Mutation_p.H1152N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1160					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H1160N(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATCTCTGGATCATTCCAGCTC	0.542																																					NSCLC(38;925 1092 2571 38200 45895)	NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(2)	2						c.(3478-3480)CAT>AAT		protocadherin 11 X-linked isoform c							124.0	104.0	111.0					X																	91873373		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91873373C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3478C>A	X.37:g.91873373C>A	ENSP00000362186:p.His1160Asn					PCDH11X_uc004efl.1_Missense_Mutation_p.H1150N|PCDH11X_uc004efo.1_Missense_Mutation_p.H1123N|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.H1152N|PCDH11X_uc004efn.1_Missense_Mutation_p.H1142N	p.H1160N	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			7	4323	+			1160			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.3478C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-2.928000	0.00054	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.52983	0.65;0.64;0.65;0.65;0.64;0.65	4.48	2.61	0.31194	.	0.532611	0.15727	N	0.247631	T	0.18341	0.0440	N	0.00926	-1.1	0.09310	N	0.999993	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.001;0.001;0.0	T	0.22452	-1.0216	10	0.28530	T	0.3	.	9.8364	0.40971	0.1569:0.6988:0.1444:0.0	.	1123;1142;1152;1150;1160	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	N	1160;1150;1123;1142;1152;1160;1123	ENSP00000362186:H1160N;ENSP00000362189:H1150N;ENSP00000362180:H1123N;ENSP00000355105:H1142N;ENSP00000384758:H1152N;ENSP00000298274:H1123N	ENSP00000298274:H1123N	H	+	1	0	PCDH11X	91760029	0.915000	0.31059	0.005000	0.12908	0.001000	0.01503	0.729000	0.26028	-0.034000	0.13713	-1.764000	0.00666	CAT		0.542	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		70	59	1	0	2.23852e-25	0.00361	3.98185e-25	70	59				
ZMAT1	84460	broad.mit.edu	37	X	101152935	101152935	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:101152935C>A	ENST00000372782.3	-	5	458	c.411G>T	c.(409-411)caG>caT	p.Q137H	ZMAT1_ENST00000540921.1_Missense_Mutation_p.Q137H|ZMAT1_ENST00000458570.1_5'UTR	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	137						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Q137H(2)		endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CATAGTGAGACTGAGCAATAA	0.413																																							uc011mrl.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(409-411)CAG>CAT		zinc finger, matrin type 1 isoform 1							159.0	124.0	136.0					X																	101152935		2203	4300	6503	SO:0001583	missense	84460					nucleus	zinc ion binding	g.chrX:101152935C>A	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.411G>T	X.37:g.101152935C>A	ENSP00000361868:p.Gln137His					ZMAT1_uc004ein.2_5'UTR|ZMAT1_uc011mrm.1_5'UTR	p.Q137H	NM_001011657	NP_001011657	Q5H9K5	ZMAT1_HUMAN			5	722	-			Error:Variant_position_missing_in_A7MD47_after_alignment					Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	c.411G>T	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	C	6.163	0.398210	0.11696	.	.	ENSG00000166432	ENST00000372782;ENST00000540921	T;T	0.24350	1.86;1.86	4.59	0.442	0.16582	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	1.109350	0.07103	N	0.840779	T	0.20941	0.0504	L	0.46157	1.445	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.15549	-1.0433	10	0.51188	T	0.08	0.1122	2.8166	0.05457	0.3452:0.4171:0.1408:0.0969	.	137	Q5H9K5	ZMAT1_HUMAN	H	137	ENSP00000361868:Q137H;ENSP00000437529:Q137H	ENSP00000361868:Q137H	Q	-	3	2	ZMAT1	101039591	0.984000	0.35163	0.985000	0.45067	0.179000	0.23085	0.079000	0.14782	-0.138000	0.11434	-0.336000	0.08194	CAG		0.413	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			93	48	1	0	2.46799e-47	0.00361	5.0123e-47	93	48				
ZMAT1	84460	broad.mit.edu	37	X	101153123	101153123	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:101153123T>A	ENST00000372782.3	-	4	346	c.299A>T	c.(298-300)aAg>aTg	p.K100M	ZMAT1_ENST00000540921.1_Missense_Mutation_p.K100M|ZMAT1_ENST00000458570.1_De_novo_Start_InFrame	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	100						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K100M(2)		endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CTTCATTTTCTTACCAGGCAC	0.318																																							uc004ein.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(-893--889)TAAGA>TATGA		zinc finger, matrin type 1 isoform 3							129.0	99.0	109.0					X																	101153123		2203	4299	6502	SO:0001583	missense	84460					nucleus	zinc ion binding	g.chrX:101153123T>A	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.299A>T	X.37:g.101153123T>A	ENSP00000361868:p.Lys100Met					ZMAT1_uc011mrl.1_Missense_Mutation_p.K100M|ZMAT1_uc011mrm.1_Translation_Start_Site		NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN			3	489	-								Q8NDS3|Q96JN6	Translation_Start_Site	SNP	ENST00000372782.3	37	c.-891A>T	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	T	10.26	1.302237	0.23736	.	.	ENSG00000166432	ENST00000372782;ENST00000540921	T;T	0.44083	0.93;0.93	4.38	1.95	0.26073	.	0.673606	0.12990	N	0.422591	T	0.47691	0.1459	L	0.59436	1.845	0.09310	N	1	D	0.69078	0.997	P	0.57283	0.817	T	0.37079	-0.9721	10	0.72032	D	0.01	-0.6836	2.4632	0.04547	0.2084:0.2301:0.0:0.5615	.	100	Q5H9K5	ZMAT1_HUMAN	M	100	ENSP00000361868:K100M;ENSP00000437529:K100M	ENSP00000361868:K100M	K	-	2	0	ZMAT1	101039779	0.987000	0.35691	0.003000	0.11579	0.165000	0.22458	1.489000	0.35562	0.199000	0.20427	0.347000	0.21830	AAG		0.318	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			20	39	0	0	0	0.010504	0	20	39				
TEX13A	56157	broad.mit.edu	37	X	104465059	104465059	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:104465059G>C	ENST00000413579.1	-	2	134	c.23C>G	c.(22-24)cCc>cGc	p.P8R	IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.P8R|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372578.3_Missense_Mutation_p.P8R			Q9BXU3	TX13A_HUMAN	testis expressed 13A	8							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCCGCTACTGGGGTCCTCAGG	0.537																																							uc004ema.2		NA																	0				ovary(2)	2						c.(22-24)CCC>CGC		testis expressed sequence 13A							40.0	39.0	39.0					X																	104465059		2203	4300	6503	SO:0001583	missense	56157					intracellular	zinc ion binding	g.chrX:104465059G>C	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.23C>G	X.37:g.104465059G>C	ENSP00000399753:p.Pro8Arg					IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.P8R	p.P8R	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN			2	135	-			8					B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37	c.23C>G		.	.	.	.	.	.	.	.	.	.	G	8.556	0.876732	0.17395	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	3.59	0.759	0.18438	.	0.502566	0.15024	N	0.284849	T	0.18045	0.0433	.	.	.	0.09310	N	1	P;P	0.46706	0.883;0.824	B;B	0.39119	0.291;0.26	T	0.11036	-1.0604	8	0.37606	T	0.19	.	5.0628	0.14566	0.4559:0.0:0.5441:0.0	.	8;8	C9JWK0;Q9BXU3	.;TX13A_HUMAN	R	8	.	ENSP00000361656:P8R	P	-	2	0	TEX13A	104351715	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.426000	0.21363	0.032000	0.15435	0.506000	0.49869	CCC		0.537	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		18	21	0	0	0	0.007413	0	18	21				
KIAA1210	57481	broad.mit.edu	37	X	118284406	118284406	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:118284406C>A	ENST00000402510.2	-	1	136	c.137G>T	c.(136-138)tGt>tTt	p.C46F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	46								p.C46F(2)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						ACAACTGCAACAGCCTTGGGA	0.572																																							uc004era.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(136-138)TGT>TTT		hypothetical protein LOC57481							49.0	52.0	51.0					X																	118284406		2000	4148	6148	SO:0001583	missense	57481							g.chrX:118284406C>A	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.137G>T	X.37:g.118284406C>A	ENSP00000384670:p.Cys46Phe						p.C46F	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			1	137	-			46					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.137G>T	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	C	6.727	0.502793	0.12822	.	.	ENSG00000250423	ENST00000402510	T	0.12879	2.64	3.74	-1.39	0.08997	.	.	.	.	.	T	0.05456	0.0144	N	0.08118	0	0.09310	N	1	B	0.29432	0.244	B	0.22152	0.038	T	0.32771	-0.9894	9	0.87932	D	0	.	3.4958	0.07654	0.1891:0.3217:0.0:0.4891	.	46	Q9ULL0	K1210_HUMAN	F	46	ENSP00000384670:C46F	ENSP00000384670:C46F	C	-	2	0	RP13-347D8.6	118168434	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.396000	0.07278	-0.498000	0.06632	-0.170000	0.13304	TGT		0.572	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		24	27	1	0	2.27525e-19	0.003954	3.66646e-19	24	27				
THOC2	57187	broad.mit.edu	37	X	122755273	122755273	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:122755273G>A	ENST00000245838.8	-	31	3982	c.3951C>T	c.(3949-3951)acC>acT	p.T1317T	THOC2_ENST00000497887.1_5'Flank|THOC2_ENST00000491737.1_Silent_p.T1202T|THOC2_ENST00000355725.4_Silent_p.T1317T	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1317	Lys-rich.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.T1317T(2)|p.T1238T(2)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTCTTTCCTTGGTCTCTCTTG	0.413																																							uc004etu.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(3)	3						c.(3949-3951)ACC>ACT		THO complex 2							259.0	230.0	239.0					X																	122755273		1841	4081	5922	SO:0001819	synonymous_variant	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122755273G>A	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.3951C>T	X.37:g.122755273G>A						THOC2_uc010nqt.1_RNA|THOC2_uc004etw.1_Silent_p.T138T	p.T1317T	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			31	3983	-			1317			Lys-rich.		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Silent	SNP	ENST00000245838.8	37	c.3951C>T	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	G	9.475	1.096630	0.20552	.	.	ENSG00000125676	ENST00000441692	.	.	.	5.32	1.03	0.20045	.	.	.	.	.	T	0.50582	0.1624	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32375	-0.9909	4	.	.	.	-1.291	4.4861	0.11790	0.0754:0.1244:0.4084:0.3918	.	.	.	.	L	85	.	.	P	-	2	0	THOC2	122582954	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	1.704000	0.37857	-0.167000	0.10871	0.600000	0.82982	CCA		0.413	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			93	72	0	0	0	0.00361	0	93	72				
OR13H1	347468	broad.mit.edu	37	X	130678094	130678094	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:130678094G>T	ENST00000338616.3	+	1	145	c.47G>T	c.(46-48)gGc>gTc	p.G16V		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G16V(2)		endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					CTCCTTATTGGCATTTCTAAC	0.383																																							uc011muw.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(46-48)GGC>GTC		olfactory receptor, family 13, subfamily H,							220.0	174.0	190.0					X																	130678094		2203	4300	6503	SO:0001583	missense	347468				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chrX:130678094G>T		CCDS35396.1	Xq26.2	2012-08-23			ENSG00000171054	ENSG00000171054		"""GPCR / Class A : Olfactory receptors"""	14755	protein-coding gene	gene with protein product							Standard	NM_001004486		Approved		uc011muw.2	Q8NG92	OTTHUMG00000022411	ENST00000338616.3:c.47G>T	X.37:g.130678094G>T	ENSP00000340748:p.Gly16Val					IGSF1_uc004ewf.2_Intron	p.G16V	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN			1	47	+	Acute lymphoblastic leukemia(192;0.000636)		16			Extracellular (Potential).		B2RNQ3|Q6IET8|Q96R12	Missense_Mutation	SNP	ENST00000338616.3	37	c.47G>T	CCDS35396.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997376	0.35226	.	.	ENSG00000171054	ENST00000338616	T	0.00659	5.94	4.63	3.77	0.43336	.	0.000000	0.39985	U	0.001207	T	0.05090	0.0136	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01863	-1.1258	10	0.72032	D	0.01	.	9.8196	0.40874	0.1027:0.0:0.8973:0.0	.	16	Q8NG92	O13H1_HUMAN	V	16	ENSP00000340748:G16V	ENSP00000340748:G16V	G	+	2	0	OR13H1	130505775	1.000000	0.71417	0.993000	0.49108	0.206000	0.24218	3.423000	0.52756	0.962000	0.38057	-0.278000	0.10074	GGC		0.383	OR13H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058297.1			27	122	1	0	1.77063e-15	0.005443	2.63754e-15	27	122				
GPC4	2239	broad.mit.edu	37	X	132439938	132439938	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:132439938C>A	ENST00000370828.3	-	6	1541	c.1017G>T	c.(1015-1017)caG>caT	p.Q339H	GPC4_ENST00000535467.1_Missense_Mutation_p.Q269H	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	339					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.Q339H(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GTCCACATCCCTGGAAAACCT	0.582																																							uc004exc.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1015-1017)CAG>CAT		glypican 4 precursor							141.0	145.0	144.0					X																	132439938		2203	4300	6503	SO:0001583	missense	2239				anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chrX:132439938C>A	AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"""Proteoglycans / Cell Surface : Glypicans"""	4452	protein-coding gene	gene with protein product	"""glypican proteoglycan 4"""	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.1017G>T	X.37:g.132439938C>A	ENSP00000359864:p.Gln339His					GPC4_uc011mvg.1_Missense_Mutation_p.Q269H	p.Q339H	NM_001448	NP_001439	O75487	GPC4_HUMAN			6	1229	-	Acute lymphoblastic leukemia(192;0.000127)		339					B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Missense_Mutation	SNP	ENST00000370828.3	37	c.1017G>T	CCDS14637.1	.	.	.	.	.	.	.	.	.	.	c	14.83	2.651286	0.47362	.	.	ENSG00000076716	ENST00000370828;ENST00000536418;ENST00000535467	T;T	0.55052	0.54;0.54	5.78	3.74	0.42951	.	0.049067	0.85682	D	0.000000	T	0.53706	0.1813	M	0.80746	2.51	0.53688	D	0.999978	B	0.18461	0.028	B	0.24006	0.05	T	0.57545	-0.7793	10	0.87932	D	0	-43.8934	8.6611	0.34093	0.0:0.689:0.0:0.311	.	339	O75487	GPC4_HUMAN	H	339;333;269	ENSP00000359864:Q339H;ENSP00000444959:Q269H	ENSP00000359864:Q339H	Q	-	3	2	GPC4	132267604	0.996000	0.38824	1.000000	0.80357	0.994000	0.84299	0.796000	0.26986	1.180000	0.42898	0.597000	0.82753	CAG		0.582	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	NM_001448		154	262	1	0	1.27947e-65	0.00361	2.64626e-65	154	262				
GPR112	139378	broad.mit.edu	37	X	135428122	135428122	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:135428122G>T	ENST00000394143.1	+	6	2548	c.2257G>T	c.(2257-2259)Gaa>Taa	p.E753*	GPR112_ENST00000370652.1_Nonsense_Mutation_p.E753*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.E548*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.E690*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.E548*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	753					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.E753*(2)		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)					CAATATGCCTGAATTTAAACT	0.373																																							uc004ezu.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(2257-2259)GAA>TAA		G-protein coupled receptor 112							73.0	62.0	66.0					X																	135428122		2203	4300	6503	SO:0001587	stop_gained	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135428122G>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.2257G>T	X.37:g.135428122G>T	ENSP00000377699:p.Glu753*					GPR112_uc010nsb.1_Nonsense_Mutation_p.E548*|GPR112_uc010nsc.1_Nonsense_Mutation_p.E520*	p.E753*	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	2548	+	Acute lymphoblastic leukemia(192;0.000127)		753			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Nonsense_Mutation	SNP	ENST00000394143.1	37	c.2257G>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	g	38	7.211718	0.98139	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	.	.	.	2.2	2.2	0.27929	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	7.2781	0.26296	0.0:0.0:1.0:0.0	.	.	.	.	X	753;753;548;690;548	.	ENSP00000287534:E690X	E	+	1	0	GPR112	135255788	0.097000	0.21791	0.046000	0.18839	0.024000	0.10985	1.119000	0.31258	1.408000	0.46895	0.279000	0.19357	GAA		0.373	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			51	31	1	0	2.69774e-35	0.00361	5.23602e-35	51	31				
CD40LG	959	broad.mit.edu	37	X	135730460	135730460	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:135730460C>G	ENST00000370629.2	+	1	109	c.53C>G	c.(52-54)cCc>cGc	p.P18R	CD40LG_ENST00000370628.2_Missense_Mutation_p.P18R	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	18					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)	p.P18R(2)		endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					ACTGGACTGCCCATCAGCATG	0.423									Immune Deficiency with Hyper-IgM																														uc004faa.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(52-54)CCC>CGC		CD40 ligand	Atorvastatin(DB01076)						158.0	149.0	152.0					X																	135730460		2203	4300	6503	SO:0001583	missense	959	Immune_Deficiency_with_Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding	g.chrX:135730460C>G	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11935	protein-coding gene	gene with protein product	"""CD40 antigen ligand"", ""tumor necrosis factor (ligand) superfamily member 5"", ""T-B cell-activating molecule"", ""TNF-related activation protein"", ""hyper-IgM syndrome"""	300386	"""tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"""	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.53C>G	X.37:g.135730460C>G	ENSP00000359663:p.Pro18Arg					CD40LG_uc010nsd.2_Missense_Mutation_p.P18R|CD40LG_uc010nse.1_5'Flank	p.P18R	NM_000074	NP_000065	P29965	CD40L_HUMAN			1	125	+	Acute lymphoblastic leukemia(192;0.000127)		18			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000370629.2	37	c.53C>G	CCDS14659.1	.	.	.	.	.	.	.	.	.	.	c	8.802	0.933068	0.18131	.	.	ENSG00000102245	ENST00000370629;ENST00000370628	T;T	0.72051	-0.62;-0.62	5.8	4.93	0.64822	.	0.311276	0.27240	N	0.020266	T	0.62024	0.2394	L	0.32530	0.975	0.09310	N	1	P;P	0.49253	0.808;0.921	B;P	0.44647	0.328;0.456	T	0.61197	-0.7111	10	0.87932	D	0	-16.3797	10.0937	0.42462	0.0:0.9033:0.0:0.0967	.	18;18	Q3L8U2;P29965	.;CD40L_HUMAN	R	18	ENSP00000359663:P18R;ENSP00000359662:P18R	ENSP00000359662:P18R	P	+	2	0	CD40LG	135558126	0.114000	0.22134	0.027000	0.17364	0.017000	0.09413	3.001000	0.49488	2.434000	0.82447	0.597000	0.82753	CCC		0.423	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058501.1	NM_000074		99	52	0	0	0	0.00361	0	99	52				
FGF13	2258	broad.mit.edu	37	X	137715045	137715045	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:137715045C>G	ENST00000315930.6	-	5	1365	c.704G>C	c.(703-705)gGa>gCa	p.G235A	FGF13_ENST00000541469.1_Missense_Mutation_p.G189A|FGF13_ENST00000305414.4_Missense_Mutation_p.G182A|FGF13_ENST00000370603.3_Missense_Mutation_p.G245A|FGF13_ENST00000441825.2_Missense_Mutation_p.G216A	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	235					cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)	p.G182A(2)|p.G235A(2)|p.G245A(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GGATTTGCCTCCGTTCAGCAC	0.527																																							uc004fam.2		NA																	6	Substitution - Missense(6)		lung(6)	ovary(1)|large_intestine(1)|breast(1)	3						c.(703-705)GGA>GCA		fibroblast growth factor 13 isoform 1							238.0	182.0	201.0					X																	137715045		2203	4300	6503	SO:0001583	missense	2258				cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	g.chrX:137715045C>G	BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.704G>C	X.37:g.137715045C>G	ENSP00000322390:p.Gly235Ala					FGF13_uc004fan.2_Missense_Mutation_p.G182A|FGF13_uc011mwi.1_Missense_Mutation_p.G216A|FGF13_uc004faq.2_Missense_Mutation_p.G245A|FGF13_uc004far.2_Missense_Mutation_p.G216A|FGF13_uc011mwj.1_Missense_Mutation_p.G245A|FGF13_uc011mwk.1_Missense_Mutation_p.G189A	p.G235A	NM_004114	NP_004105	Q92913	FGF13_HUMAN			5	1366	-	Acute lymphoblastic leukemia(192;0.000127)		235					B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Missense_Mutation	SNP	ENST00000315930.6	37	c.704G>C	CCDS14665.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946022	0.73672	.	.	ENSG00000129682	ENST00000315930;ENST00000305414;ENST00000441825;ENST00000370603;ENST00000541469	T;T;T;T;T	0.79653	-1.05;-1.21;-1.25;-1.29;-1.23	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.80565	0.4647	L	0.52011	1.625	0.80722	D	1	B;P;P;P	0.42785	0.382;0.79;0.55;0.754	B;B;B;B	0.43155	0.206;0.387;0.358;0.41	T	0.82760	-0.0298	10	0.87932	D	0	.	18.0496	0.89343	0.0:1.0:0.0:0.0	.	189;245;182;235	B7Z8N0;B7Z4M7;Q92913-2;Q92913	.;.;.;FGF13_HUMAN	A	235;182;216;245;189	ENSP00000322390:G235A;ENSP00000303391:G182A;ENSP00000409276:G216A;ENSP00000359635:G245A;ENSP00000437903:G189A	ENSP00000303391:G182A	G	-	2	0	FGF13	137542711	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.487000	0.81328	2.485000	0.83878	0.600000	0.82982	GGA		0.527	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2	NM_004114		150	92	0	0	0	0.00361	0	150	92				
MAGEC3	139081	broad.mit.edu	37	X	140969330	140969330	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:140969330G>T	ENST00000298296.1	+	4	657	c.657G>T	c.(655-657)acG>acT	p.T219T	MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	219	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.T219T(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ACACATACACGGGCTACTTTC	0.438																																							uc011mwp.1		NA																	2	Substitution - coding silent(2)	p.T219M(1)	lung(2)	skin(2)|central_nervous_system(1)	3						c.(655-657)ACG>ACT		melanoma antigen family C, 3 isoform 1							163.0	146.0	152.0					X																	140969330		2203	4300	6503	SO:0001819	synonymous_variant	139081							g.chrX:140969330G>T	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.657G>T	X.37:g.140969330G>T							p.T219T	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			4	657	+	Acute lymphoblastic leukemia(192;6.56e-05)		219			MAGE 1.		Q3SYA7|Q5JZ43|Q9BZ80	Silent	SNP	ENST00000298296.1	37	c.657G>T	CCDS14676.1																																																																																				0.438	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		44	177	1	0	1.23103e-26	0.003214	2.20466e-26	44	177				
MAGEC3	139081	broad.mit.edu	37	X	140985421	140985421	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:140985421C>A	ENST00000298296.1	+	8	1735	c.1735C>A	c.(1735-1737)Cag>Aag	p.Q579K	MAGEC3_ENST00000544766.1_Nonsense_Mutation_p.S328*|MAGEC3_ENST00000409007.1_Nonsense_Mutation_p.S328*|MAGEC3_ENST00000443323.2_Nonsense_Mutation_p.S248*|MAGEC3_ENST00000536088.1_Nonsense_Mutation_p.S328*	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	579	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.Q579K(2)|p.S328*(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGCCCATTCAGAGGCCAGC	0.473																																							uc011mwp.1		NA																	4	Substitution - Missense(2)|Substitution - Nonsense(2)		lung(4)	skin(2)|central_nervous_system(1)	3						c.(1735-1737)CAG>AAG		melanoma antigen family C, 3 isoform 1							66.0	69.0	68.0					X																	140985421		2203	4300	6503	SO:0001583	missense	139081							g.chrX:140985421C>A	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1735C>A	X.37:g.140985421C>A	ENSP00000298296:p.Gln579Lys					MAGEC3_uc004fbs.2_Nonsense_Mutation_p.S328*|MAGEC3_uc010nsj.2_Nonsense_Mutation_p.S328*	p.Q579K	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			8	1735	+	Acute lymphoblastic leukemia(192;6.56e-05)		579			MAGE 2.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.1735C>A	CCDS14676.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	33|33	5.228129|5.228129	0.95173|0.95173	.|.	.|.	ENSG00000165509|ENSG00000165509	ENST00000298296|ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	T|.	0.02837|.	4.14|.	1.25|1.25	1.25|1.25	0.21368|0.21368	.|.	.|.	.|.	.|.	.|.	T|.	0.16642|.	0.0400|.	N|N	0.02539|0.02539	-0.55|-0.55	0.45183|0.45183	D|D	0.998197|0.998197	P|.	0.39624|.	0.681|.	B|.	0.33890|.	0.172|.	T|.	0.09618|.	-1.0666|.	9|.	0.49607|0.08381	T|T	0.09|0.77	.|.	5.4273|5.4273	0.16433|0.16433	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	579|.	Q8TD91|.	MAGC3_HUMAN|.	K|X	579|328;248;328;328	ENSP00000298296:Q579K|.	ENSP00000298296:Q579K|ENSP00000386566:S328X	Q|S	+|+	1|2	0|0	MAGEC3|MAGEC3	140813087|140813087	0.003000|0.003000	0.15002|0.15002	0.042000|0.042000	0.18584|0.18584	0.047000|0.047000	0.14425|0.14425	0.140000|0.140000	0.16056|0.16056	0.898000|0.898000	0.36418|0.36418	0.284000|0.284000	0.19432|0.19432	CAG|TCA		0.473	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		104	44	1	0	3.06722e-38	0.00361	6.02735e-38	104	44				
SPANXN3	139067	broad.mit.edu	37	X	142596702	142596702	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:142596702T>C	ENST00000370503.2	-	2	451	c.368A>G	c.(367-369)cAg>cGg	p.Q123R	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	123								p.Q123R(2)		endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TTCATCCTCCTGTGAGGATCC	0.453																																							uc004fbw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(367-369)CAG>CGG		SPANX-N3 protein							165.0	132.0	143.0					X																	142596702		2203	4300	6503	SO:0001583	missense	139067							g.chrX:142596702T>C		CCDS35418.1	Xq27.3	2012-06-12			ENSG00000189252	ENSG00000189252			33176	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 8"""	300666				14973187, 17012309	Standard	NM_001009609		Approved	SPANX-N3, CT11.8	uc004fbw.3	Q5MJ09	OTTHUMG00000022582	ENST00000370503.2:c.368A>G	X.37:g.142596702T>C	ENSP00000359534:p.Gln123Arg						p.Q123R	NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN			2	456	-	Acute lymphoblastic leukemia(192;6.56e-05)		123					Q0ZNK4	Missense_Mutation	SNP	ENST00000370503.2	37	c.368A>G	CCDS35418.1	.	.	.	.	.	.	.	.	.	.	t	10.69	1.420842	0.25639	.	.	ENSG00000189252	ENST00000370503	T	0.09911	2.93	1.25	-1.3	0.09259	.	.	.	.	.	T	0.10680	0.0261	L	0.43923	1.385	0.09310	N	1	P	0.48350	0.909	P	0.50440	0.641	T	0.22871	-1.0204	9	0.12766	T	0.61	.	4.2355	0.10623	0.0:0.4959:0.0:0.5041	.	123	Q5MJ09	SPXN3_HUMAN	R	123	ENSP00000359534:Q123R	ENSP00000359534:Q123R	Q	-	2	0	SPANXN3	142424368	0.006000	0.16342	0.000000	0.03702	0.068000	0.16541	0.286000	0.18902	-0.462000	0.06984	0.213000	0.17768	CAG		0.453	SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058620.2	NM_001009609		61	91	0	0	0	0.00361	0	61	91				
PASD1	139135	broad.mit.edu	37	X	150840994	150840994	+	Missense_Mutation	SNP	G	G	T	rs147522572	byFrequency	TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:150840994G>T	ENST00000370357.4	+	14	2022	c.1777G>T	c.(1777-1779)Gta>Tta	p.V593L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	593						nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.V593L(4)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CCCACGTGACGTATCTGTGCC	0.527																																							uc004fev.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)	3						c.(1777-1779)GTA>TTA		PAS domain containing 1							197.0	139.0	159.0					X																	150840994		2203	4300	6503	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150840994G>T	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1777G>T	X.37:g.150840994G>T	ENSP00000359382:p.Val593Leu						p.V593L	NM_173493	NP_775764	Q8IV76	PASD1_HUMAN			14	2109	+	Acute lymphoblastic leukemia(192;6.56e-05)		593					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.1777G>T	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	G	1.111	-0.658244	0.03454	.	.	ENSG00000166049	ENST00000370357	T	0.32272	1.46	2.41	-4.82	0.03171	.	.	.	.	.	T	0.11537	0.0281	N	0.08118	0	0.09310	N	1	B	0.23937	0.094	B	0.24155	0.051	T	0.18903	-1.0322	9	0.56958	D	0.05	.	0.3217	0.00304	0.378:0.1442:0.1857:0.292	.	593	Q8IV76	PASD1_HUMAN	L	593	ENSP00000359382:V593L	ENSP00000359382:V593L	V	+	1	0	PASD1	150591650	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.229000	0.00270	-2.181000	0.00765	-0.415000	0.06103	GTA		0.527	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		58	83	1	0	1.61742e-36	0.00361	3.17046e-36	58	83				
CNGA2	1260	broad.mit.edu	37	X	150912077	150912077	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:150912077G>A	ENST00000329903.4	+	6	1135	c.1102G>A	c.(1102-1104)Gtg>Atg	p.V368M		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	368					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.V368M(2)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCACCATCGTGGGAAATGT	0.507																																							uc004fey.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(3)	3						c.(1102-1104)GTG>ATG		cyclic nucleotide gated channel alpha 2							126.0	119.0	121.0					X																	150912077		2203	4300	6503	SO:0001583	missense	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150912077G>A	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1102G>A	X.37:g.150912077G>A	ENSP00000328478:p.Val368Met						p.V368M	NM_005140	NP_005131	Q16280	CNGA2_HUMAN			7	1326	+	Acute lymphoblastic leukemia(192;6.56e-05)		368			Helical; Name=H5; (Potential).		A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	c.1102G>A	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299298	0.60195	.	.	ENSG00000183862	ENST00000329903	D	0.98849	-5.18	4.96	4.96	0.65561	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99045	0.9673	M	0.83692	2.655	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.99437	1.0937	10	0.45353	T	0.12	.	14.8649	0.70406	0.0:0.0:1.0:0.0	.	368	Q16280	CNGA2_HUMAN	M	368	ENSP00000328478:V368M	ENSP00000328478:V368M	V	+	1	0	CNGA2	150662733	1.000000	0.71417	0.747000	0.31113	0.954000	0.61252	9.420000	0.97426	2.183000	0.69458	0.529000	0.55759	GTG		0.507	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		81	76	0	0	0	0.00361	0	81	76				
HCFC1	3054	broad.mit.edu	37	X	153227748	153227748	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:153227748G>A	ENST00000310441.7	-	5	1688	c.722C>T	c.(721-723)aCg>aTg	p.T241M	HCFC1_ENST00000354233.3_Missense_Mutation_p.T241M|HCFC1_ENST00000369984.4_Missense_Mutation_p.T241M|HCFC1_ENST00000461098.1_5'Flank	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	241					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.T142M(2)|p.T241M(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTATTCCACGTCAGGGTGTC	0.567																																							uc004fjp.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(721-723)ACG>ATG		host cell factor 1							56.0	57.0	57.0					X																	153227748		2113	4212	6325	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153227748G>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.722C>T	X.37:g.153227748G>A	ENSP00000309555:p.Thr241Met						p.T241M	NM_005334	NP_005325	P51610	HCFC1_HUMAN			5	1250	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		241			Kelch 4.		Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.722C>T	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608456	0.87258	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.54279	0.58;0.58;0.58	5.61	5.61	0.85477	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.70448	0.3225	M	0.86268	2.805	0.58432	D	0.999997	D	0.55385	0.971	P	0.53689	0.732	T	0.76828	-0.2815	10	0.87932	D	0	.	17.3027	0.87186	0.0:0.0:1.0:0.0	.	241	P51610	HCFC1_HUMAN	M	241	ENSP00000309555:T241M;ENSP00000359001:T241M;ENSP00000346174:T241M	ENSP00000309555:T241M	T	-	2	0	HCFC1	152880942	1.000000	0.71417	0.986000	0.45419	0.678000	0.39670	9.418000	0.97395	2.353000	0.79882	0.529000	0.55759	ACG		0.567	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		14	27	0	0	0	0.00245	0	14	27				
CLIC2	1193	broad.mit.edu	37	X	154509358	154509358	+	Splice_Site	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:154509358C>G	ENST00000369449.2	-	4	512		c.e4-1		CLIC2_ENST00000465553.1_Splice_Site	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2						chloride transmembrane transport (GO:1902476)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|oxidation-reduction process (GO:0055114)|positive regulation of binding (GO:0051099)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|signal transduction (GO:0007165)|transport (GO:0006810)	chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)|glutathione peroxidase activity (GO:0004602)|voltage-gated chloride channel activity (GO:0005247)	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTGAGGGTACCTTAAAAAGAA	0.418																																					Melanoma(108;581 1592 2289 21669 28822)	Melanoma(108;581 1592 2289 21669 28822)	uc004fnf.2		NA																	2	Unknown(2)		lung(2)	large_intestine(1)|ovary(1)|skin(1)	3						c.e4-1		chloride intracellular channel 2							93.0	75.0	81.0					X																	154509358		2203	4300	6503	SO:0001630	splice_region_variant	1193				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity	g.chrX:154509358C>G	AJ000217	CCDS14767.1	Xq28	2012-09-26			ENSG00000155962	ENSG00000155962		"""Ion channels / Chloride channels : Intracellular"""	2063	protein-coding gene	gene with protein product		300138				9339381	Standard	NM_001289		Approved	XAP121	uc004fnf.3	O15247	OTTHUMG00000022660	ENST00000369449.2:c.294-1G>C	X.37:g.154509358C>G						CLIC2_uc010nvj.1_Splice_Site_p.R116_splice	p.R98_splice	NM_001289	NP_001280	O15247	CLIC2_HUMAN			4	544	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)							A8K9S0|O15174|Q5JT80|Q8TCE3	Splice_Site	SNP	ENST00000369449.2	37	c.294_splice	CCDS14767.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485804	0.44147	.	.	ENSG00000155962	ENST00000369449;ENST00000321926	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4008	0.67044	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLIC2	154162552	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	6.980000	0.76160	2.065000	0.61736	0.422000	0.28245	.		0.418	CLIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058793.1	NM_001289	Intron	20	46	0	0	0	0.007413	0	20	46				
WASH6P	653440	broad.mit.edu	37	X	155255036	155255036	+	RNA	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:155255036C>G	ENST00000461007.1	+	0	3952				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 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)	p.S478S(1)									ACTGGGAATCCTAGGGGGCTC	0.642																																							uc004fnx.3		NA																	1	Substitution - coding silent(1)		lung(1)		NA						c.(790-792)TCC>TCG		WAS protein family homolog 1																																						0							g.chrX:155255036C>G	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155255036C>G							p.S264S	NM_182905	NP_878908					9	1246	+								A6NGF1|Q8N305	Silent	SNP	ENST00000461007.1	37	c.792C>G																																																																																					0.642	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		3	17	0	0	0	0.009096	0	3	17				
SPATA17	128153	broad.mit.edu	37	1	217955584	217955584	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:217955584delG	ENST00000366933.4	+	8	847	c.792delG	c.(790-792)gtgfs	p.V264fs	RP11-415L24.1_ENST00000415765.1_RNA	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	264						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		CGTTGCGGGTGGCAGAACCAA	0.448																																							uc001hlh.1		NA																	0				pancreas(1)	1						c.(790-792)GTGfs		spermatogenesis associated 17							95.0	97.0	97.0					1																	217955584		2203	4300	6503	SO:0001589	frameshift_variant	128153					cytoplasm	calmodulin binding	g.chr1:217955584delG	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.792delG	1.37:g.217955584delG	ENSP00000355900:p.Val264fs					SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Frame_Shift_Del_p.V264fs	p.V264fs	NM_138796	NP_620151	Q96L03	SPT17_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)	8	818	+			264					A5D6N2	Frame_Shift_Del	DEL	ENST00000366933.4	37	c.792delG	CCDS1519.1																																																																																				0.448	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796		48	91	NA	NA	NA	NA	NA	48	91	---	---	---	---
OR56A4	120793	broad.mit.edu	37	11	6023930	6023930	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:6023930delG	ENST00000330728.4	-	1	494	c.449delC	c.(448-450)ccafs	p.P150fs		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGCAGGCTGGGAAGCTGAT	0.547																																							uc010qzv.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(448-450)CCAfs		olfactory receptor, family 56, subfamily A,							91.0	83.0	86.0					11																	6023930		2201	4296	6497	SO:0001589	frameshift_variant	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6023930delG	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.449delC	11.37:g.6023930delG	ENSP00000328215:p.Pro150fs						p.P150fs	NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	449	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	98			Extracellular (Potential).		B9EH17	Frame_Shift_Del	DEL	ENST00000330728.4	37	c.449delC	CCDS31404.1																																																																																				0.547	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		36	71	NA	NA	NA	NA	NA	36	71	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6643491	6643491	+	Frame_Shift_Del	DEL	C	C	-	rs187251510	byFrequency	TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:6643491delC	ENST00000299441.3	-	21	9827	c.9416delG	c.(9415-9417)ggcfs	p.G3139fs	RP11-732A19.5_ENST00000526456.1_RNA|TPP1_ENST00000528657.1_5'Flank|TPP1_ENST00000533371.1_5'Flank|TPP1_ENST00000534644.1_5'Flank|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000299427.6_5'Flank	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3139					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATGGCTTGCCATCTGCTGG	0.652																																							uc001mem.1		NA																	0				ovary(3)|large_intestine(1)|pancreas(1)	5						c.(9415-9417)GGCfs		dachsous 1 precursor							13.0	14.0	14.0					11																	6643491		2192	4271	6463	SO:0001589	frameshift_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6643491delC	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.9416delG	11.37:g.6643491delC	ENSP00000299441:p.Gly3139fs					TPP1_uc001mek.1_5'Flank|TPP1_uc001mel.1_5'Flank|TPP1_uc010rar.1_5'Flank	p.G3139fs	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	9826	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	3139			Cytoplasmic (Potential).		O15098	Frame_Shift_Del	DEL	ENST00000299441.3	37	c.9416delG	CCDS7771.1																																																																																				0.652	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		6	13	NA	NA	NA	NA	NA	6	13	---	---	---	---
LRRC4C	57689	broad.mit.edu	37	11	40137020	40137020	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:40137020delC	ENST00000278198.2	-	2	2786	c.823delG	c.(823-825)gcafs	p.A275fs	LRRC4C_ENST00000530763.1_Frame_Shift_Del_p.A275fs|LRRC4C_ENST00000528697.1_Frame_Shift_Del_p.A275fs|LRRC4C_ENST00000527150.1_Frame_Shift_Del_p.A275fs			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	275					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TTATTGTGTGCCAGGTTGATC	0.428																																							uc001mxa.1		NA																	0				ovary(4)|skin(3)|central_nervous_system(1)	8						c.(823-825)GCAfs		netrin-G1 ligand precursor							196.0	152.0	167.0					11																	40137020		2203	4300	6503	SO:0001589	frameshift_variant	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137020delC	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.823delG	11.37:g.40137020delC	ENSP00000278198:p.Ala275fs					LRRC4C_uc001mxc.1_Frame_Shift_Del_p.A271fs|LRRC4C_uc001mxd.1_Frame_Shift_Del_p.A271fs|LRRC4C_uc001mxb.1_Frame_Shift_Del_p.A271fs	p.A275fs	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	2787	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	275			LRR 9.		A8K0T1|Q7L0N3	Frame_Shift_Del	DEL	ENST00000278198.2	37	c.823delG	CCDS31464.1																																																																																				0.428	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		52	126	NA	NA	NA	NA	NA	52	126	---	---	---	---
ALKBH8	91801	broad.mit.edu	37	11	107424656	107424661	+	In_Frame_Del	DEL	ACCATG	ACCATG	-	rs368268533|rs561174566	byFrequency	TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	ACCATG	ACCATG	-	-	ACCATG	ACCATG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:107424656_107424661delACCATG	ENST00000428149.2	-	4	562_567	c.411_416delCATGGT	c.(409-417)ctcatggta>cta	p.MV138del	ALKBH8_ENST00000429370.1_In_Frame_Del_p.MV138del|ALKBH8_ENST00000417449.2_In_Frame_Del_p.MV141del|ALKBH8_ENST00000530933.1_5'UTR|ALKBH8_ENST00000389568.3_In_Frame_Del_p.MV138del	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	138					cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		TTCTTCTACTACCATGAGTCCTGGTG	0.364																																							uc010rvr.1		NA																	0					0						c.(409-417)CTCATGGTA>CTA		alkB, alkylation repair homolog 8																																				SO:0001651	inframe_deletion	91801				response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity	g.chr11:107424656_107424661delACCATG	AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"""Alkylation repair homologs"", ""RNA binding motif (RRM) containing"""	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.411_416delCATGGT	11.37:g.107424656_107424661delACCATG	ENSP00000415885:p.Met138_Val139del					ALKBH8_uc001pjk.2_5'Flank|ALKBH8_uc010rvq.1_Translation_Start_Site|ALKBH8_uc009yxp.2_In_Frame_Del_p.MV138del|ALKBH8_uc001pjl.2_RNA	p.MV138del	NM_138775	NP_620130	Q96BT7	ALKB8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)	4	486_491	-		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)	138_139					B1Q2M0|B4DEF6|Q8N989	In_Frame_Del	DEL	ENST00000428149.2	37	c.411_416delCATGGT	CCDS8337.2																																																																																				0.364	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347071.2	NM_138775		9	56	NA	NA	NA	NA	NA	9	56	---	---	---	---
WDR25	79446	broad.mit.edu	37	14	100934506	100934507	+	Splice_Site	INS	-	-	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:100934506_100934507insT	ENST00000335290.6	+	3	1196		c.e3+1		WDR25_ENST00000542471.2_Splice_Site|WDR25_ENST00000402312.3_Splice_Site|WDR25_ENST00000554998.1_Splice_Site	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25											central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				CTTGAAACAGGTGCGTTTCTTG	0.629																																							uc010avx.2		NA																	0					0						c.e3+1		WD repeat domain 25																																				SO:0001630	splice_region_variant	79446							g.chr14:100934506_100934507insT	BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473		"""WD repeat domain containing"""	21064	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 67"""	C14orf67		15587985	Standard	NM_001161476		Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.970+1->T	14.37:g.100934507_100934507dupT						WDR25_uc001yhm.2_Splice_Site_p.G316_splice|WDR25_uc001yhn.2_Splice_Site_p.G324_splice|WDR25_uc010avy.2_Intron|WDR25_uc001yho.2_Splice_Site_p.G67_splice	p.G324_splice	NM_001161476	NP_001154948	Q64LD2	WDR25_HUMAN			3	1063	+		Melanoma(154;0.212)						A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Splice_Site	INS	ENST00000335290.6	37	c.970_splice	CCDS32157.1																																																																																				0.629	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1	NM_024515	Intron	27	148	NA	NA	NA	NA	NA	27	148	---	---	---	---
FAM81A	145773	broad.mit.edu	37	15	59808843	59808843	+	Splice_Site	DEL	G	G	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:59808843delG	ENST00000288228.5	+	8	973		c.e8-1			NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A											endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						ATGGATCTCAGGGAGCCAGTG	0.408																																							uc002agc.2		NA																	0				ovary(1)	1						c.e8-1		hypothetical protein LOC145773							69.0	65.0	66.0					15																	59808843		1880	4120	6000	SO:0001630	splice_region_variant	145773							g.chr15:59808843delG		CCDS45269.1	15q22.2	2012-10-02			ENSG00000157470	ENSG00000157470			28379	protein-coding gene	gene with protein product							Standard	NM_152450		Approved	MGC26690	uc002agc.2	Q8TBF8	OTTHUMG00000171915	ENST00000288228.5:c.787-1G>-	15.37:g.59808843delG							p.G263_splice	NM_152450	NP_689663	Q8TBF8	FA81A_HUMAN			8	974	+									Splice_Site	DEL	ENST00000288228.5	37	c.787_splice	CCDS45269.1																																																																																				0.408	FAM81A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415876.1	NM_152450	Intron	19	46	NA	NA	NA	NA	NA	19	46	---	---	---	---
CASKIN1	57524	broad.mit.edu	37	16	2236767	2236767	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:2236767delC	ENST00000343516.6	-	10	1081	c.989delG	c.(988-990)ggcfs	p.G330fs	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	330	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CCGGTCATTGCCCGTCCGGTT	0.672																																							uc010bsg.1		NA																	0				skin(2)	2						c.(988-990)GGCfs		CASK interacting protein 1							37.0	41.0	40.0					16																	2236767		2021	4161	6182	SO:0001589	frameshift_variant	57524				signal transduction	cytoplasm		g.chr16:2236767delC	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.989delG	16.37:g.2236767delC	ENSP00000345436:p.Gly330fs						p.G330fs	NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN			10	1021	-			330			SH3.		Q9P2P0	Frame_Shift_Del	DEL	ENST00000343516.6	37	c.989delG	CCDS42103.1																																																																																				0.672	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		26	78	NA	NA	NA	NA	NA	26	78	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577594	7577595	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	AC	AC	-	-	AC	AC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:7577594_7577595delAC	ENST00000269305.4	-	7	875_876	c.686_687delGT	c.(685-687)tgtfs	p.C229fs	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Frame_Shift_Del_p.C229fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.C229fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.C229fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.C229fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.C229fs	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	229	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> G (in a sporadic cancer; somatic mutation).|C -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> Y (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.C229fs*10(14)|p.0?(8)|p.?(5)|p.C229fs*1(4)|p.C229*(3)|p.C229F(3)|p.C229Y(2)|p.C229_H233delCTTIH(2)|p.C136fs*1(1)|p.C229S(1)|p.C136F(1)|p.T230fs*9(1)|p.C229_T230insX(1)|p.C229C(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.C229_I232del(1)|p.S227_I232delSDCTTI(1)|p.C136fs*10(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)	GGATGGTGGTACAGTCAGAGCC	0.53		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		52	Deletion - Frameshift(18)|Whole gene deletion(8)|Substitution - Missense(7)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(4)|Substitution - Nonsense(3)|Insertion - In frame(1)|Complex - frameshift(1)|Substitution - coding silent(1)	p.C229fs*10(10)|p.0?(7)|p.C229*(3)|p.C229S(2)|p.C229R(2)|p.C229Y(2)|p.C229_H233delCTTIH(2)|p.T230fs*9(1)|p.C229fs*1(1)|p.C229fs*18(1)|p.C229_T230insX(1)|p.C229C(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.C229G(1)|p.C229_I232del(1)|p.S227_I232delSDCTTI(1)	biliary_tract(14)|ovary(9)|breast(5)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|oesophagus(3)|central_nervous_system(2)|large_intestine(2)|urinary_tract(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|thymus(1)|skin(1)|pancreas(1)|liver(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	CD076915	TP53	D		c.(685-687)TGTfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577594_7577595delAC	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.686_687delGT	17.37:g.7577594_7577595delAC	ENSP00000269305:p.Cys229fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Frame_Shift_Del_p.C229fs|TP53_uc002gih.2_Frame_Shift_Del_p.C229fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.C97fs|TP53_uc010cng.1_Frame_Shift_Del_p.C97fs|TP53_uc002gii.1_Frame_Shift_Del_p.C97fs|TP53_uc010cnh.1_Frame_Shift_Del_p.C229fs|TP53_uc010cni.1_Frame_Shift_Del_p.C229fs|TP53_uc002gij.2_Frame_Shift_Del_p.C229fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.C136fs|TP53_uc002gio.2_Frame_Shift_Del_p.C97fs	p.C229fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	880_881	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	229		C -> Y (in sporadic cancers; somatic mutation).|C -> G (in a sporadic cancer; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> S (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.686_687delGT	CCDS11118.1																																																																																				0.530	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		22	47	NA	NA	NA	NA	NA	22	47	---	---	---	---
PTPRA	5786	broad.mit.edu	37	20	2945550	2945550	+	Frame_Shift_Del	DEL	G	G	-	rs199565440		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:2945550delG	ENST00000216877.6	+	5	517	c.117delG	c.(115-117)acgfs	p.T39fs	PTPRA_ENST00000358719.4_5'UTR|PTPRA_ENST00000399903.2_Frame_Shift_Del_p.T39fs|PTPRA_ENST00000425918.2_Frame_Shift_Del_p.T50fs|PTPRA_ENST00000356147.3_Frame_Shift_Del_p.T39fs|PTPRA_ENST00000380393.3_Frame_Shift_Del_p.T39fs|PTPRA_ENST00000318266.5_Frame_Shift_Del_p.T39fs	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	39					axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACTCATCAACGGCAGAACCAG	0.388																																							uc010zqb.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(115-117)ACGfs		SubName: Full=cDNA FLJ60525, highly similar to Receptor-type tyrosine-protein phosphatase alpha (EC 3.1.3.48);							95.0	89.0	91.0					20																	2945550		2203	4300	6503	SO:0001589	frameshift_variant	5786				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:2945550delG		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.117delG	20.37:g.2945550delG	ENSP00000216877:p.Thr39fs					PTPRA_uc002whj.2_Frame_Shift_Del_p.T39fs|PTPRA_uc010zqc.1_Intron|PTPRA_uc002whk.2_Frame_Shift_Del_p.T39fs|PTPRA_uc010zqd.1_Frame_Shift_Del_p.T50fs|PTPRA_uc002whl.2_Frame_Shift_Del_p.T39fs|PTPRA_uc002whm.2_5'UTR|PTPRA_uc002whn.2_Frame_Shift_Del_p.T39fs	p.T39fs			P18433	PTPRA_HUMAN			5	510	+			39			Extracellular (Potential).		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Frame_Shift_Del	DEL	ENST00000216877.6	37	c.117delG	CCDS13039.1																																																																																				0.388	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			36	68	NA	NA	NA	NA	NA	36	68	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187627867	187627868	+	Frame_Shift_Ins	INS	-	-	A	rs199581659		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:187627867_187627868insA	ENST00000441802.2	-	2	3323_3324	c.3114_3115insT	c.(3112-3117)gtggaafs	p.E1039fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1039	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTCCCCTTTTCCACAAAGCTGG	0.485										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(3112-3117)GTGGAAfs		FAT tumor suppressor 1 precursor																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187627867_187627868insA	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3114_3115insT	4.37:g.187627867_187627868insA	ENSP00000406229:p.Glu1039fs	HNSCC(5;0.00058)				FAT1_uc010iso.1_Frame_Shift_Ins_p.V1038fs	p.V1038fs	NM_005245	NP_005236	Q14517	FAT1_HUMAN			2	3302_3303	-			1038_1039			Extracellular (Potential).|Cadherin 9.			Frame_Shift_Ins	INS	ENST00000441802.2	37	c.3114_3115insT	CCDS47177.1																																																																																				0.485	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		52	167	NA	NA	NA	NA	NA	52	167	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19747207	19747207	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:19747207delG	ENST00000507958.1	-	6	1357	c.367delC	c.(367-369)cacfs	p.H123fs	CDH18_ENST00000511273.1_Frame_Shift_Del_p.H123fs|CDH18_ENST00000382275.1_Frame_Shift_Del_p.H123fs|CDH18_ENST00000502796.1_Frame_Shift_Del_p.H123fs|CDH18_ENST00000274170.4_Frame_Shift_Del_p.H123fs|CDH18_ENST00000506372.1_Frame_Shift_Del_p.H123fs			Q13634	CAD18_HUMAN	cadherin 18, type 2	123	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H123N(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGCACATAGTGGGTCTTCTGC	0.443																																							uc003jgc.2		NA																	2	Substitution - Missense(2)		kidney(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(367-369)CACfs		cadherin 18, type 2 preproprotein							252.0	225.0	234.0					5																	19747207		2203	4300	6503	SO:0001589	frameshift_variant	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19747207delG	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.367delC	5.37:g.19747207delG	ENSP00000425093:p.His123fs					CDH18_uc003jgd.2_Frame_Shift_Del_p.H123fs|CDH18_uc011cnm.1_Frame_Shift_Del_p.H123fs	p.H123fs	NM_004934	NP_004925	Q13634	CAD18_HUMAN			3	744	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		123			Extracellular (Potential).|Cadherin 1.		A8K0I2|B4DHG6|Q8N5Z2	Frame_Shift_Del	DEL	ENST00000507958.1	37	c.367delC	CCDS3889.1																																																																																				0.443	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		26	174	NA	NA	NA	NA	NA	26	174	---	---	---	---
ZNF746	155061	broad.mit.edu	37	7	149191498	149191499	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:149191498_149191499insC	ENST00000340622.3	-	2	400_401	c.120_121insG	c.(118-123)gggatgfs	p.M41fs	ZNF746_ENST00000461958.2_Frame_Shift_Ins_p.M41fs|ZNF746_ENST00000458143.2_Frame_Shift_Ins_p.M41fs			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	41					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TTCTCGGCCATCCCGGTTCGAC	0.594																																							uc003wfw.2		NA																	0				ovary(2)|breast(1)	3						c.(118-123)GGGATGfs		zinc finger protein 746 isoform 2																																				SO:0001589	frameshift_variant	155061				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr7:149191498_149191499insC	AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"""Zinc fingers, C2H2-type"", ""-"""	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.121dupG	7.37:g.149191501_149191501dupC	ENSP00000345140:p.Met41fs					ZNF746_uc010lpi.2_Frame_Shift_Ins_p.G40fs	p.G40fs	NM_152557	NP_689770	Q6NUN9	ZN746_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		2	391_392	-	Melanoma(164;0.165)		40_41			Potential.		A8K6Z9|Q6ZRF9	Frame_Shift_Ins	INS	ENST00000340622.3	37	c.120_121insG	CCDS5897.1																																																																																				0.594	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352730.1	NM_152557		39	186	NA	NA	NA	NA	NA	39	186	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77761315	77761315	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:77761315delC	ENST00000521891.2	+	7	4044	c.3596delC	c.(3595-3597)gcafs	p.A1199fs	ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.A1154fs|ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.A1173fs|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.A1154fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1154					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)			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)			GAGGATGTTGCAACAAAAAGG	0.393										HNSCC(33;0.089)																													uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(3460-3462)GCAfs		zinc finger homeodomain 4							52.0	52.0	52.0					8																	77761315		1826	4071	5897	SO:0001589	frameshift_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77761315delC		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.3596delC	8.37:g.77761315delC	ENSP00000430497:p.Ala1199fs	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Frame_Shift_Del_p.A1199fs|ZFHX4_uc003yaw.1_Frame_Shift_Del_p.A1154fs	p.A1154fs	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		7	3848	+			1154					G3V138|Q18PS0|Q6ZN20	Frame_Shift_Del	DEL	ENST00000521891.2	37	c.3461delC	CCDS47878.2																																																																																				0.393	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		4	4	NA	NA	NA	NA	NA	4	4	---	---	---	---
CEL	1056	broad.mit.edu	37	9	135940095	135940095	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:135940095delG	ENST00000372080.4	+	3	311	c.295delG	c.(295-297)gggfs	p.G99fs	CEL_ENST00000351304.7_Frame_Shift_Del_p.G96fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	96	Heparin-binding.				cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CAGCACCTACGGGGATGAAGA	0.602																																							uc010naa.1		NA																	0				pancreas(1)	1						c.(295-297)GGGfs		carboxyl ester lipase precursor							78.0	90.0	86.0					9																	135940095		2095	4218	6313	SO:0001589	frameshift_variant	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135940095delG	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.295delG	9.37:g.135940095delG	ENSP00000361151:p.Gly99fs						p.G99fs	NM_001807	NP_001798	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	3	311	+			96			Heparin-binding.		Q16398|Q5T7U7|Q9UCH1|Q9UP41	Frame_Shift_Del	DEL	ENST00000372080.4	37	c.295delG	CCDS43896.1																																																																																				0.602	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			35	115	NA	NA	NA	NA	NA	35	115	---	---	---	---
