#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_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_filter	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CFAP74	85452	broad.mit.edu	37	1	1854086	1854086	+	IGR	SNP	A	A	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:1854086A>G								TMEM52 (3374 upstream) : C1orf222 (65476 downstream)														p.V253A(1)									GCCGCGCTCCACGGAGCCCCT	0.617																																						uc001aik.2																			1	Substitution - Missense(1)		lung(1)								c.(757-759)GTG>GCG		RecName: Full=Uncharacterized protein C1orf222;							67.0	70.0	69.0					1																	1854086		2201	4296	6497	SO:0001628	intergenic_variant	0							g.chr1:1854086A>G																													1.37:g.1854086A>G						uc001ail.2_Missense_Mutation_p.V253A	p.V253A							10	1608	-									Missense_Mutation	SNP		37	c.758T>C																																																																																				0	PASS	0.617									6	73	6	73	---	---	---	---
GPR153	387509	broad.mit.edu	37	1	6314831	6314831	+	Silent	SNP	C	C	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:6314831C>G	ENST00000377893.2	-	2	394	c.135G>C	c.(133-135)ctG>ctC	p.L45L		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L45L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GTGTACACAGCAGGAACTCCA	0.647																																						uc001amp.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(133-135)CTG>CTC		G protein-coupled receptor 153							78.0	79.0	79.0					1																	6314831		2203	4300	6503	SO:0001819	synonymous_variant	387509					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:6314831C>G	AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"""GPCR / Class A : Orphans"""	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.135G>C	1.37:g.6314831C>G							p.L45L	NM_207370	NP_997253	Q6NV75	GP153_HUMAN		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)	2	395	-	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	45			Helical; Name=2; (Potential).		Q5TGR5|Q6AHW8|Q86SP8	Silent	SNP	ENST00000377893.2	37	c.135G>C	CCDS64.1																																																																																				PASS	0.647	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003717.2			13	80	13	80	---	---	---	---
PHF13	148479	broad.mit.edu	37	1	6680213	6680213	+	Silent	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:6680213C>T	ENST00000377648.4	+	3	874	c.492C>T	c.(490-492)ccC>ccT	p.P164P	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	164					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.P164P(1)		endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		CCCAGGCTCCCAGCGACCCCT	0.592																																						uc001aob.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(490-492)CCC>CCT		PHD finger protein 13							29.0	33.0	32.0					1																	6680213		2203	4300	6503	SO:0001819	synonymous_variant	148479				cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding	g.chr1:6680213C>T	AK027492	CCDS85.1	1p36.23	2013-01-28			ENSG00000116273	ENSG00000116273		"""Zinc fingers, PHD-type"""	22983	protein-coding gene	gene with protein product							Standard	NM_153812		Approved	MGC43399	uc001aob.4	Q86YI8	OTTHUMG00000001439	ENST00000377648.4:c.492C>T	1.37:g.6680213C>T							p.P164P	NM_153812	NP_722519	Q86YI8	PHF13_HUMAN		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)	3	863	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	164					B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	Silent	SNP	ENST00000377648.4	37	c.492C>T	CCDS85.1																																																																																				PASS	0.592	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004201.1	NM_153812		8	61	8	61	---	---	---	---
SLC2A7	155184	broad.mit.edu	37	1	9086385	9086385	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:9086385C>T	ENST00000400906.1	-	1	19	c.20G>A	c.(19-21)gGa>gAa	p.G7E		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	7					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.G7E(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		TGGAGGGGTTCCCGCCTCTTT	0.587																																						uc009vmo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(19-21)GGA>GAA		intestinal facilitative glucose transporter 7							130.0	110.0	117.0					1																	9086385		2203	4300	6503	SO:0001583	missense	155184					integral to membrane|plasma membrane	sugar transmembrane transporter activity	g.chr1:9086385C>T	AL356306	CCDS98.2	1p36.2	2013-05-22			ENSG00000197241	ENSG00000197241		"""Solute carriers"""	13445	protein-coding gene	gene with protein product	"""intestinal facilitative glucose transporter 7"""	610371				11780753	Standard	NM_207420		Approved	GLUT7	uc009vmo.1	Q6PXP3	OTTHUMG00000057499	ENST00000400906.1:c.20G>A	1.37:g.9086385C>T	ENSP00000383698:p.Gly7Glu						p.G7E	NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	1	20	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	7			Cytoplasmic (Potential).		A2A333	Missense_Mutation	SNP	ENST00000400906.1	37	c.20G>A	CCDS98.2	.	.	.	.	.	.	.	.	.	.	C	10.66	1.411854	0.25465	.	.	ENSG00000197241	ENST00000400906	T	0.79554	-1.28	3.9	1.76	0.24704	Major facilitator superfamily domain, general substrate transporter (1);	1.518790	0.04608	U	0.399724	T	0.61261	0.2333	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.12837	0.008	T	0.52094	-0.8621	10	0.06891	T	0.86	.	3.4395	0.07458	0.253:0.6034:0.0:0.1436	.	7	Q6PXP3	GTR7_HUMAN	E	7	ENSP00000383698:G7E	ENSP00000383698:G7E	G	-	2	0	SLC2A7	9008972	0.000000	0.05858	0.002000	0.10522	0.505000	0.33919	-0.029000	0.12329	0.820000	0.34516	0.462000	0.41574	GGA		PASS	0.587	SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127768.3	NM_207420		7	17	7	17	---	---	---	---
ZMYM6	9204	broad.mit.edu	37	1	35484984	35484984	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:35484984G>A	ENST00000357182.4	-	4	625	c.398C>T	c.(397-399)cCt>cTt	p.P133L	ZMYM6_ENST00000373340.2_Missense_Mutation_p.P133L|ZMYM6_ENST00000317538.5_Missense_Mutation_p.P133L|ZMYM6_ENST00000493328.1_Intron|ZMYM6_ENST00000487874.1_Missense_Mutation_p.P133L|ZMYM6_ENST00000373333.1_Missense_Mutation_p.P133L	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	133					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P133L(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TTTCTTGGGAGGAGGTGGCAG	0.403																																						uc001byh.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(397-399)CCT>CTT		zinc finger protein 258							145.0	136.0	139.0					1																	35484984		2203	4300	6503	SO:0001583	missense	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35484984G>A	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.398C>T	1.37:g.35484984G>A	ENSP00000349708:p.Pro133Leu					ZMYM6_uc001byf.1_Missense_Mutation_p.P133L|ZMYM6_uc010oht.1_Missense_Mutation_p.P36L|ZMYM6_uc009vup.2_Intron|ZMYM6_uc009vuq.1_Missense_Mutation_p.P133L|ZMYM6_uc009vur.1_Intron|ZMYM6_uc001byj.2_Missense_Mutation_p.P133L|ZMYM6_uc001byi.2_Missense_Mutation_p.P133L|ZMYM6_uc001byk.2_Missense_Mutation_p.P133L	p.P133L	NM_007167	NP_009098	O95789	ZMYM6_HUMAN			4	626	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	133			MYM-type 1.		B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	37	c.398C>T	CCDS387.2	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653608	0.47362	.	.	ENSG00000163867	ENST00000373340;ENST00000357182;ENST00000415531;ENST00000317538;ENST00000373333	T;T;T;T;T	0.43688	1.98;3.14;1.55;0.94;0.94	5.15	0.984	0.19773	Zinc finger, MYM-type (1);	0.402682	0.22998	N	0.053115	T	0.20780	0.0500	N	0.05124	-0.11	0.38377	D	0.945023	B;B;B	0.24092	0.004;0.013;0.097	B;B;B	0.31245	0.009;0.05;0.126	T	0.07271	-1.0781	10	0.22706	T	0.39	-3.7672	8.7643	0.34694	0.3257:0.0:0.6743:0.0	.	133;133;133	O95789-4;O95789;O95789-1	.;ZMYM6_HUMAN;.	L	133	ENSP00000362437:P133L;ENSP00000349708:P133L;ENSP00000391337:P133L;ENSP00000326695:P133L;ENSP00000362430:P133L	ENSP00000326695:P133L	P	-	2	0	ZMYM6	35257571	0.923000	0.31300	0.989000	0.46669	0.995000	0.86356	1.158000	0.31737	0.085000	0.17107	0.585000	0.79938	CCT		PASS	0.403	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		42	134	42	134	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39818705	39818705	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:39818705G>C	ENST00000372915.3	+	43	11328	c.11241G>C	c.(11239-11241)gaG>gaC	p.E3747D	MACF1_ENST00000567887.1_Missense_Mutation_p.E3779D|MACF1_ENST00000317713.7_Missense_Mutation_p.E1680D|MACF1_ENST00000539005.1_Missense_Mutation_p.E1680D|MACF1_ENST00000564288.1_Missense_Mutation_p.E3742D|MACF1_ENST00000545844.1_Missense_Mutation_p.E1680D|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000289893.4_Missense_Mutation_p.E2182D|MACF1_ENST00000361689.2_Missense_Mutation_p.E1680D			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3747					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.E1680D(1)|p.E2182D(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AACTGGCAGAGAACAAGAAGA	0.483																																						uc010oiu.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(6544-6546)GAG>GAC		microfilament and actin filament cross-linker							89.0	77.0	81.0					1																	39818705		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39818705G>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.11241G>C	1.37:g.39818705G>C	ENSP00000362006:p.Glu3747Asp					MACF1_uc010ois.1_Missense_Mutation_p.E1680D|MACF1_uc001cda.1_Missense_Mutation_p.E1588D|MACF1_uc001cdc.1_Missense_Mutation_p.E767D|MACF1_uc001cdb.1_Missense_Mutation_p.E767D	p.E2182D	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		8	6677	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	3747					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.6546G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.51|16.51	3.143384|3.143384	0.57044|0.57044	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000530262;ENST00000289893|ENST00000372925	T;T;T;T;T;D;T|T	0.92299|0.55052	-0.8;-0.88;-0.8;-0.83;-0.62;-3.01;0.22|0.54	5.53|5.53	2.65|2.65	0.31530|0.31530	.|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000008|0.000008	T|T	0.62588|0.62588	0.2440|0.2440	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	P;P;P;B|.	0.45902|.	0.846;0.723;0.868;0.198|.	P;P;P;B|.	0.50570|.	0.557;0.545;0.644;0.343|.	T|T	0.64101|0.64101	-0.6486|-0.6486	10|8	0.72032|0.72032	D|D	0.01|0.01	.|.	9.2001|9.2001	0.37254|0.37254	0.2886:0.0:0.7114:0.0|0.2886:0.0:0.7114:0.0	.|.	3747;1680;1680;1645|.	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	MACF1_HUMAN;.;.;.|.	D|Q	1680;3747;1680;1680;1680;1829;2182|814	ENSP00000439537:E1680D;ENSP00000362006:E3747D;ENSP00000354573:E1680D;ENSP00000313438:E1680D;ENSP00000444364:E1680D;ENSP00000437059:E1829D;ENSP00000289893:E2182D|ENSP00000362016:E814Q	ENSP00000289893:E2182D|ENSP00000362016:E814Q	E|E	+|+	3|1	2|0	MACF1|MACF1	39591292|39591292	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.851000|0.851000	0.48451|0.48451	2.512000|2.512000	0.45485|0.45485	0.697000|0.697000	0.31718|0.31718	0.555000|0.555000	0.69702|0.69702	GAG|GAA		PASS	0.483	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		9	74	9	74	---	---	---	---
CDCP2	200008	broad.mit.edu	37	1	54610287	54610288	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:54610287_54610288CC>AT	ENST00000371330.1	-	2	1125_1126	c.278_279GG>AT	c.(277-279)gGG>gAT	p.G93D	RP11-446E24.4_ENST00000311841.7_3'UTR|RP11-446E24.4_ENST00000525949.1_5'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	93	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)		p.G93E(1)|p.G93D(1)|p.G93G(1)		kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CTGGTGAGGCCCCATTGTAGAT	0.594																																						uc001cwv.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)	1						c.(277-279)GGG>GGT|c.(277-279)GGG>GAG		CUB domain containing protein 2 precursor																																				SO:0001583	missense	200008					extracellular region		g.chr1:54610287C>A|g.chr1:54610288C>T		CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.278_279delinsAT	1.37:g.54610287_54610288delinsAT	ENSP00000360381:p.Gly93Asp						p.G93G|p.G93E	NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN			2	1127|1126	-			93			CUB 1.		Q6ZWJ3	Silent|Missense_Mutation	SNP	ENST00000371330.1	37	c.279G>T|c.278G>A	CCDS588.2																																																																																				PASS	0.594	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546		11	38|39	11	38	---	---	---	---
NFIA	4774	broad.mit.edu	37	1	61553950	61553950	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:61553950G>C	ENST00000403491.3	+	2	641	c.157G>C	c.(157-159)Gag>Cag	p.E53Q	NFIA_ENST00000479364.1_Intron|NFIA_ENST00000371189.4_Missense_Mutation_p.E98Q|NFIA_ENST00000371187.3_Missense_Mutation_p.E53Q|NFIA_ENST00000371185.2_Missense_Mutation_p.E53Q|NFIA_ENST00000485903.2_Missense_Mutation_p.E53Q|NFIA_ENST00000371184.2_Missense_Mutation_p.E53Q|NFIA_ENST00000407417.3_Missense_Mutation_p.E45Q|NFIA_ENST00000371191.1_Missense_Mutation_p.E76Q	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	53					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.E98Q(1)|p.E53Q(1)	NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						AAAAGAAGAAGAGAGAGCCGT	0.473																																						uc001czw.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)|skin(1)	2						c.(157-159)GAG>CAG		nuclear factor I/A isoform 1							91.0	97.0	95.0					1																	61553950		2203	4300	6503	SO:0001583	missense	4774				DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:61553950G>C	U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	ENST00000403491.3:c.157G>C	1.37:g.61553950G>C	ENSP00000384523:p.Glu53Gln					NFIA_uc001czy.2_Missense_Mutation_p.E45Q|NFIA_uc010oos.1_Missense_Mutation_p.E98Q|NFIA_uc001czv.2_Missense_Mutation_p.E53Q	p.E53Q	NM_001134673	NP_001128145	Q12857	NFIA_HUMAN			2	641	+			53			CTF/NF-I.		B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Missense_Mutation	SNP	ENST00000403491.3	37	c.157G>C	CCDS44156.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705735	0.89018	.	.	ENSG00000162599	ENST00000371191;ENST00000407417;ENST00000371189;ENST00000403491;ENST00000485903;ENST00000371185;ENST00000371184;ENST00000371187	T;T;T;T;T;T;T;T	0.59502	0.31;0.34;0.26;0.34;0.38;0.51;0.58;0.33	6.07	6.07	0.98685	CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.78748	0.4332	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.67145	0.996;0.981;0.981;0.989	D;D;D;D	0.75484	0.986;0.932;0.932;0.969	T	0.79132	-0.1929	10	0.87932	D	0	-10.2274	20.6439	0.99570	0.0:0.0:1.0:0.0	.	98;76;53;53	F8W8W3;B1AKN8;Q12857;Q12857-2	.;.;NFIA_HUMAN;.	Q	76;45;98;53;53;53;53;53	ENSP00000360233:E76Q;ENSP00000384680:E45Q;ENSP00000360231:E98Q;ENSP00000384523:E53Q;ENSP00000419785:E53Q;ENSP00000360227:E53Q;ENSP00000360226:E53Q;ENSP00000360229:E53Q	ENSP00000360226:E53Q	E	+	1	0	NFIA	61326538	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.890000	0.99128	0.650000	0.86243	GAG		PASS	0.473	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023799.3	NM_005595		62	150	62	150	---	---	---	---
GADD45A	1647	broad.mit.edu	37	1	68152230	68152230	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:68152230G>T	ENST00000370986.4	+	3	778	c.344G>T	c.(343-345)gGc>gTc	p.G115V	GADD45A_ENST00000370985.3_Missense_Mutation_p.G81V|GADD45A_ENST00000460575.1_3'UTR	NM_001924.3	NP_001915.1	P24522	GA45A_HUMAN	growth arrest and DNA-damage-inducible, alpha	115	Intrinsically disordered.				activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|signal transduction in response to DNA damage (GO:0042770)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter binding (GO:0001047)	p.G115V(1)		lung(2)|ovary(2)	4						GCGAGCGAGGGCGCCGAGCAG	0.706																																						uc001ddz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(343-345)GGC>GTC		growth arrest and DNA-damage-inducible, alpha							15.0	19.0	18.0					1																	68152230		2184	4279	6463	SO:0001583	missense	1647				apoptosis|cell cycle arrest|cellular response to ionizing radiation|cellular response to mechanical stimulus|DNA repair|positive regulation of reactive oxygen species metabolic process|regulation of cyclin-dependent protein kinase activity|signal transduction in response to DNA damage	nucleus	protein binding	g.chr1:68152230G>T	M60974	CCDS640.1, CCDS55605.1, CCDS72806.1	1p31.2	2010-08-27			ENSG00000116717	ENSG00000116717			4095	protein-coding gene	gene with protein product		126335		DDIT1		1990262, 8226988	Standard	NM_001924		Approved	GADD45	uc001ddz.2	P24522	OTTHUMG00000009374	ENST00000370986.4:c.344G>T	1.37:g.68152230G>T	ENSP00000360025:p.Gly115Val					GADD45A_uc009wbb.1_Missense_Mutation_p.G81V|GADD45A_uc009wbc.1_Intron|GADD45A_uc009wbd.1_Intron	p.G115V	NM_001924	NP_001915	P24522	GA45A_HUMAN			3	639	+			115					Q5TCA7|Q5TCA8	Missense_Mutation	SNP	ENST00000370986.4	37	c.344G>T	CCDS640.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931006	0.52866	.	.	ENSG00000116717	ENST00000370986;ENST00000370985	T;T	0.56275	0.47;0.47	5.49	4.54	0.55810	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.306973	0.39985	N	0.001217	T	0.30103	0.0754	L	0.38175	1.15	0.80722	D	1	B;B	0.24043	0.096;0.016	B;B	0.26693	0.055;0.072	T	0.15607	-1.0431	10	0.41790	T	0.15	-4.5004	13.5917	0.61964	0.0:0.1551:0.8449:0.0	.	81;115	Q5TCA7;P24522	.;GA45A_HUMAN	V	115;81	ENSP00000360025:G115V;ENSP00000360024:G81V	ENSP00000360024:G81V	G	+	2	0	GADD45A	67924818	0.997000	0.39634	1.000000	0.80357	0.810000	0.45777	2.610000	0.46325	2.576000	0.86940	0.467000	0.42956	GGC		PASS	0.706	GADD45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025988.2	NM_001924		6	35	6	35	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75038770	75038770	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:75038770G>T	ENST00000326665.5	-	14	2842	c.2624C>A	c.(2623-2625)gCt>gAt	p.A875D	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		875	Glu-rich.							p.A875D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTTTTCAGGAGCCTCATCTTT	0.522																																						uc001dgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(2623-2625)GCT>GAT		hypothetical protein LOC127254							212.0	210.0	211.0					1																	75038770		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038770G>T																												ENST00000326665.5:c.2624C>A	1.37:g.75038770G>T	ENSP00000322609:p.Ala875Asp						p.A875D	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	2843	-			875			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2624C>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.060406	0.36373	.	.	ENSG00000178965	ENST00000326665	T	0.11495	2.77	4.89	-0.649	0.11461	.	.	.	.	.	T	0.04048	0.0113	L	0.36672	1.1	0.09310	N	1	D	0.54047	0.964	P	0.52481	0.7	T	0.31752	-0.9932	9	0.11794	T	0.64	0.2715	7.88	0.29616	0.155:0.3685:0.4765:0.0	.	875	Q5RHP9	CA173_HUMAN	D	875	ENSP00000322609:A875D	ENSP00000322609:A875D	A	-	2	0	C1orf173	74811358	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.361000	0.07612	-0.048000	0.13401	0.563000	0.77884	GCT		PASS	0.522	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			123	312	123	312	---	---	---	---
USP33	23032	broad.mit.edu	37	1	78194184	78194184	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:78194184C>G	ENST00000370793.1	-	11	1370	c.1024G>C	c.(1024-1026)Gat>Cat	p.D342H	USP33_ENST00000370794.3_Missense_Mutation_p.D311H|USP33_ENST00000357428.1_Missense_Mutation_p.D342H|USP33_ENST00000370792.3_Missense_Mutation_p.D342H	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	342	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.D342H(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TCATTATTATCTTCAGAAAAG	0.333																																					Melanoma(152;72 1870 11110 26780 42647)	uc001dht.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(1024-1026)GAT>CAT		ubiquitin specific protease 33 isoform 1							108.0	98.0	101.0					1																	78194184		2203	4299	6502	SO:0001583	missense	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78194184C>G	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.1024G>C	1.37:g.78194184C>G	ENSP00000359829:p.Asp342His					USP33_uc001dhs.2_Missense_Mutation_p.D63H|USP33_uc001dhu.2_Missense_Mutation_p.D311H|USP33_uc001dhv.2_Missense_Mutation_p.D147H|USP33_uc001dhw.2_Missense_Mutation_p.D342H	p.D342H	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN			11	1371	-			342					Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	c.1024G>C	CCDS678.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729949	0.69074	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792	T;T;T;T	0.10288	2.9;2.89;2.89;2.9	5.14	5.14	0.70334	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.327319	0.30329	N	0.009873	T	0.10937	0.0267	L	0.46157	1.445	0.53688	D	0.999974	P;P;P	0.48834	0.836;0.897;0.916	P;P;P	0.51833	0.62;0.62;0.681	T	0.01130	-1.1442	10	0.49607	T	0.09	.	13.3262	0.60461	0.0:0.9236:0.0:0.0764	.	342;311;342	Q8TEY7-3;Q8TEY7-2;Q8TEY7	.;.;UBP33_HUMAN	H	311;342;342;342	ENSP00000359830:D311H;ENSP00000359829:D342H;ENSP00000350009:D342H;ENSP00000359828:D342H	ENSP00000350009:D342H	D	-	1	0	USP33	77966772	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.362000	0.52314	2.571000	0.86741	0.467000	0.42956	GAT		PASS	0.333	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		29	170	29	170	---	---	---	---
IFI44L	10964	broad.mit.edu	37	1	79094042	79094042	+	Missense_Mutation	SNP	C	C	G	rs273258	byFrequency	TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:79094042C>G	ENST00000370751.5	+	2	621	c.442C>G	c.(442-444)Cgt>Ggt	p.R148G	IFI44L_ENST00000342282.3_Intron|IFI44L_ENST00000476521.1_Intron	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	148			R -> C (in dbSNP:rs273258).		defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)		p.R109G(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						TTATGGCCACCGTCAGTATTT	0.303																																						uc010oro.1																			1	Substitution - Missense(1)		lung(1)		0						c.(442-444)CGT>GGT		interferon-induced protein 44-like							34.0	38.0	37.0					1																	79094042		2191	4282	6473	SO:0001583	missense	10964					cytoplasm		g.chr1:79094042C>G	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"""chromosome 1 open reading frame 29"""	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.442C>G	1.37:g.79094042C>G	ENSP00000359787:p.Arg148Gly					IFI44L_uc010orp.1_Intron|IFI44L_uc010orq.1_Intron	p.R148G	NM_006820	NP_006811	Q53G44	IF44L_HUMAN			2	621	+			148					Q86TE1|Q96B64|Q99984	Missense_Mutation	SNP	ENST00000370751.5	37	c.442C>G	CCDS687.2	.	.	.	.	.	.	.	.	.	.	C	0.355	-0.942728	0.02322	.	.	ENSG00000137959	ENST00000370751;ENST00000450498	T;T	0.14144	3.13;2.53	3.01	-6.01	0.02199	.	22.686800	0.00166	N	0.000000	T	0.01523	0.0049	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30504	-0.9976	10	0.27082	T	0.32	.	2.5956	0.04853	0.3347:0.4308:0.112:0.1225	.	148	Q53G44	IF44L_HUMAN	G	148;125	ENSP00000359787:R148G;ENSP00000400784:R125G	ENSP00000359787:R148G	R	+	1	0	IFI44L	78866630	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.232000	0.01205	-2.510000	0.00504	0.205000	0.17691	CGT		PASS	0.303	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	NM_006820		33	82	33	82	---	---	---	---
ELTD1	64123	broad.mit.edu	37	1	79387408	79387408	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:79387408T>A	ENST00000370742.3	-	9	1210	c.1147A>T	c.(1147-1149)Agc>Tgc	p.S383C		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	383	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.S383C(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GAAGACCAGCTGCCATTCATG	0.418																																						uc001diq.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1147-1149)AGC>TGC		EGF, latrophilin and seven transmembrane domain							127.0	122.0	124.0					1																	79387408		1975	4164	6139	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79387408T>A	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1147A>T	1.37:g.79387408T>A	ENSP00000359778:p.Ser383Cys						p.S383C	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	9	1303	-			383			GPS.|Extracellular (Potential).		B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.1147A>T	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	T	17.82	3.483381	0.63962	.	.	ENSG00000162618	ENST00000370742	T	0.72167	-0.63	5.32	5.32	0.75619	GPS domain (3);	0.521861	0.24925	N	0.034513	T	0.69824	0.3154	M	0.73372	2.23	0.24291	N	0.995167	P	0.45240	0.854	P	0.55667	0.781	T	0.65776	-0.6086	9	.	.	.	.	10.0202	0.42037	0.0:0.0759:0.0:0.9241	.	383	Q9HBW9	ELTD1_HUMAN	C	383	ENSP00000359778:S383C	.	S	-	1	0	ELTD1	79159996	0.985000	0.35326	0.987000	0.45799	0.976000	0.68499	2.862000	0.48388	2.130000	0.65690	0.477000	0.44152	AGC		PASS	0.418	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		20	104	20	104	---	---	---	---
DRAM2	128338	broad.mit.edu	37	1	111663190	111663190	+	Silent	SNP	G	G	C	rs12408306		TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:111663190G>C	ENST00000286692.4	-	6	1082	c.465C>G	c.(463-465)gtC>gtG	p.V155V	DRAM2_ENST00000484310.1_5'UTR|DRAM2_ENST00000539140.1_Silent_p.V155V			Q6UX65	DRAM2_HUMAN	DNA-damage regulated autophagy modulator 2	155					apoptotic process (GO:0006915)|regulation of autophagy (GO:0010506)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|microtubule cytoskeleton (GO:0015630)		p.V155V(1)		endometrium(1)|large_intestine(5)|lung(3)	9						TGATCCAGAAGACTTGTTTGC	0.423																																						uc001ead.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(463-465)GTC>GTG		transmembrane protein 77							123.0	104.0	110.0					1																	111663190		2203	4299	6502	SO:0001819	synonymous_variant	128338				apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane		g.chr1:111663190G>C	AY336747	CCDS30801.1	1p13.3	2010-07-08	2009-06-12	2009-06-12	ENSG00000156171	ENSG00000156171			28769	protein-coding gene	gene with protein product		613360	"""transmembrane protein 77"""	TMEM77		12975309	Standard	NM_178454		Approved	MGC54289, PRO180, WWFQ154, RP5-1180E21.1	uc001ead.4	Q6UX65	OTTHUMG00000011911	ENST00000286692.4:c.465C>G	1.37:g.111663190G>C						DRAM2_uc001eae.3_Silent_p.V155V|DRAM2_uc009wfy.2_RNA|DRAM2_uc001eaf.3_Silent_p.V25V	p.V155V	NM_178454	NP_848549	Q6UX65	DRAM2_HUMAN			6	722	-			155					B3SUG9|Q4VWF6|Q86VD3|Q8NBQ4	Silent	SNP	ENST00000286692.4	37	c.465C>G	CCDS30801.1																																																																																				PASS	0.423	DRAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032930.3	NM_178454		11	89	11	89	---	---	---	---
KCND3	3752	broad.mit.edu	37	1	112524810	112524810	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:112524810G>A	ENST00000315987.2	-	2	1018	c.539C>T	c.(538-540)aCg>aTg	p.T180M	KCND3_ENST00000302127.4_Missense_Mutation_p.T180M|KCND3_ENST00000369697.1_Missense_Mutation_p.T180M	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	180					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.T180M(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CAGGGCCAGCGTGCTGGTGTG	0.632																																						uc001ebu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(538-540)ACG>ATG		potassium voltage-gated channel, Shal-related							46.0	44.0	45.0					1																	112524810		2203	4300	6503	SO:0001583	missense	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112524810G>A	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.539C>T	1.37:g.112524810G>A	ENSP00000319591:p.Thr180Met					KCND3_uc001ebv.1_Missense_Mutation_p.T180M	p.T180M	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	2	1019	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	180			Cytoplasmic (Potential).		O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	c.539C>T	CCDS843.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778429	0.70107	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.97430	-4.38;-4.38;-4.38	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.96818	0.8961	M	0.77820	2.39	0.80722	D	1	D;P	0.57257	0.979;0.954	P;P	0.47915	0.475;0.561	D	0.96527	0.9390	10	0.51188	T	0.08	.	18.9981	0.92821	0.0:0.0:1.0:0.0	.	180;180	Q14D71;Q9UK17	.;KCND3_HUMAN	M	180	ENSP00000358711:T180M;ENSP00000319591:T180M;ENSP00000306923:T180M	ENSP00000306923:T180M	T	-	2	0	KCND3	112326333	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	7.876000	0.87215	2.590000	0.87494	0.563000	0.77884	ACG		PASS	0.632	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		7	41	7	41	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144855817	144855817	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:144855817C>A	ENST00000369354.3	-	41	6925	c.6736G>T	c.(6736-6738)Gag>Tag	p.E2246*	PDE4DIP_ENST00000369359.4_Nonsense_Mutation_p.E2382*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.E2246*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.E2140*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.E2331*|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.4_ENST00000532137.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2246					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.E2246*(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GAAGCTGACTCCTCTAGGGCA	0.577			T	PDGFRB	MPD																																	uc001elw.3				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - Nonsense(2)		lung(2)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(6736-6738)GAG>TAG		phosphodiesterase 4D interacting protein isoform							53.0	50.0	51.0					1																	144855817		2203	4296	6499	SO:0001587	stop_gained	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144855817C>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6736G>T	1.37:g.144855817C>A	ENSP00000358360:p.Glu2246*					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Nonsense_Mutation_p.E2140*|PDE4DIP_uc001elv.3_Nonsense_Mutation_p.E1253*	p.E2246*	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	41	7027	-			2246					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Nonsense_Mutation	SNP	ENST00000369354.3	37	c.6736G>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	49	15.913153	0.99849	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	15.5499	0.76141	0.0:1.0:0.0:0.0	.	.	.	.	X	2140;2246;2246;2331;2382	.	ENSP00000327209:E2140X	E	-	1	0	PDE4DIP	143567174	1.000000	0.71417	0.888000	0.34837	0.620000	0.37586	4.482000	0.60257	2.262000	0.75019	0.549000	0.68633	GAG		PASS	0.577	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		13	142	13	142	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144886319	144886319	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:144886319A>G	ENST00000369354.3	-	23	3104	c.2915T>C	c.(2914-2916)gTg>gCg	p.V972A	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.V1109A|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.V972A|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.V1038A|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.V1109A|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	972					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.V972A(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCCAAAGCCACCTTGACAAG	0.443			T	PDGFRB	MPD																																	uc001elw.3				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - Missense(2)		lung(2)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(2914-2916)GTG>GCG		phosphodiesterase 4D interacting protein isoform							148.0	167.0	161.0					1																	144886319		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144886319A>G	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.2915T>C	1.37:g.144886319A>G	ENSP00000358360:p.Val972Ala					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.V1038A|PDE4DIP_uc001elv.3_5'UTR	p.V972A	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	23	3206	-			972					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.2915T>C	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	A	2.873	-0.233581	0.05983	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01538	4.79;4.91;4.91;4.9;4.9	5.56	3.16	0.36331	.	.	.	.	.	T	0.00384	0.0012	N	0.19112	0.55	0.80722	D	1	P;B	0.36837	0.571;0.435	B;B	0.33960	0.173;0.115	T	0.40664	-0.9551	9	0.02654	T	1	.	5.1228	0.14869	0.6372:0.1735:0.0:0.1893	.	1038;972	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	A	1038;972;972;1109;1109	ENSP00000327209:V1038A;ENSP00000358360:V972A;ENSP00000358363:V972A;ENSP00000435654:V1109A;ENSP00000358366:V1109A	ENSP00000327209:V1038A	V	-	2	0	PDE4DIP	143597676	0.996000	0.38824	1.000000	0.80357	0.012000	0.07955	0.710000	0.25748	2.128000	0.65567	0.459000	0.35465	GTG		PASS	0.443	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		44	447	44	447	---	---	---	---
NOTCH2NL	388677	broad.mit.edu	37	1	145273436	145273436	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:145273436G>A	ENST00000369340.3	+	4	734	c.290G>A	c.(289-291)gGg>gAg	p.G97E	NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.G97E|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.G97E|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.G97E			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	97	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.G97E(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						TGTCAAGTCGGGTTTACAGGT	0.463																																						uc001emn.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(289-291)GGG>GAG		Notch homolog 2 N-terminal like protein							291.0	301.0	298.0					1																	145273436		2203	4300	6503	SO:0001583	missense	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145273436G>A		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"""Notch homolog 2 (Drosophila) N-terminal like"""			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.290G>A	1.37:g.145273436G>A	ENSP00000358346:p.Gly97Glu					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Missense_Mutation_p.G97E|NOTCH2NL_uc001emo.2_Missense_Mutation_p.G97E|NOTCH2NL_uc010oyh.1_RNA	p.G97E	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN			3	660	+			97			EGF-like 3.		Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Missense_Mutation	SNP	ENST00000369340.3	37	c.290G>A	CCDS909.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696577	0.48202	.	.	ENSG00000213240	ENST00000362074;ENST00000344859;ENST00000369340	D;D;D	0.87571	-2.27;-2.27;-2.27	2.75	2.75	0.32379	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.89567	0.6752	M	0.73217	2.22	0.29980	N	0.817773	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82985	-0.0185	9	0.87932	D	0	.	11.2552	0.49050	0.0:0.0:1.0:0.0	.	97;97	Q7Z3S9-2;Q7Z3S9	.;NT2NL_HUMAN	E	97	ENSP00000354929:G97E;ENSP00000344557:G97E;ENSP00000358346:G97E	ENSP00000344557:G97E	G	+	2	0	NOTCH2NL	143984793	1.000000	0.71417	0.904000	0.35570	0.329000	0.28539	7.699000	0.84547	1.532000	0.49169	0.394000	0.25966	GGG		PASS	0.463	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458		32	573	32	573	---	---	---	---
SF3B4	10262	broad.mit.edu	37	1	149898740	149898740	+	Silent	SNP	T	T	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:149898740T>C	ENST00000271628.8	-	3	818	c.234A>G	c.(232-234)aaA>aaG	p.K78K	MTMR11_ENST00000492824.1_5'Flank	NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	78	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K78K(1)		endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TCCCATAGAGTTTGATCATGT	0.443																																						uc001etj.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(232-234)AAA>AAG		splicing factor 3b, subunit 4							118.0	102.0	108.0					1																	149898740		2203	4300	6503	SO:0001819	synonymous_variant	10262					nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr1:149898740T>C	L35013	CCDS72900.1	1q21.2	2013-02-12	2002-08-29		ENSG00000143368	ENSG00000143368		"""RNA binding motif (RRM) containing"""	10771	protein-coding gene	gene with protein product		605593	"""splicing factor 3b, subunit 4, 49kD"""			7958871	Standard	NM_005850		Approved	SAP49, SF3b49, Hsh49	uc001etk.2	Q15427	OTTHUMG00000012208	ENST00000271628.8:c.234A>G	1.37:g.149898740T>C						SF3B4_uc001eti.1_5'Flank|SF3B4_uc001etk.1_Silent_p.K78K|SF3B4_uc009wll.1_Silent_p.K78K	p.K78K	NM_005850	NP_005841	Q15427	SF3B4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		3	285	-	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		78			RRM 1.		Q5SZ63	Silent	SNP	ENST00000271628.8	37	c.234A>G	CCDS941.1																																																																																				PASS	0.443	SF3B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033753.1	NM_005850		34	111	34	111	---	---	---	---
TARS2	80222	broad.mit.edu	37	1	150478140	150478140	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:150478140G>C	ENST00000369064.3	+	17	2001	c.1967G>C	c.(1966-1968)aGa>aCa	p.R656T	ECM1_ENST00000369049.4_5'Flank|TARS2_ENST00000369054.2_Missense_Mutation_p.R526T|ECM1_ENST00000369047.4_5'Flank|ECM1_ENST00000346569.6_5'Flank|TARS2_ENST00000606933.1_Missense_Mutation_p.R574T	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	656					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.R656T(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CTCAGCCGGAGAATCCGCCGG	0.567																																						uc001euq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1966-1968)AGA>ACA		threonyl-tRNA synthetase 2, mitochondrial	L-Threonine(DB00156)						74.0	77.0	76.0					1																	150478140		2203	4300	6503	SO:0001583	missense	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150478140G>C	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1967G>C	1.37:g.150478140G>C	ENSP00000358060:p.Arg656Thr					TARS2_uc001eur.2_Missense_Mutation_p.R574T|TARS2_uc009wlt.2_Missense_Mutation_p.R282T|TARS2_uc009wls.2_Missense_Mutation_p.R526T|ECM1_uc010pce.1_5'Flank|ECM1_uc010pcf.1_5'Flank|ECM1_uc001eus.2_5'Flank|ECM1_uc001eut.2_5'Flank|ECM1_uc001euu.2_5'Flank|ECM1_uc001euv.2_5'Flank|ECM1_uc009wlu.2_5'Flank	p.R656T	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		17	1974	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		656					Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	c.1967G>C	CCDS952.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026860	0.54683	.	.	ENSG00000143374	ENST00000369054;ENST00000369064;ENST00000369051;ENST00000369052	D;D;D	0.84370	-1.84;-1.84;-1.84	4.53	2.66	0.31614	Anticodon-binding (3);	0.181876	0.47455	D	0.000234	D	0.86859	0.6034	M	0.85099	2.735	0.80722	D	1	D;P;P	0.60160	0.987;0.918;0.858	P;P;P	0.60286	0.872;0.697;0.532	D	0.86284	0.1669	10	0.87932	D	0	-32.5291	6.2324	0.20742	0.3806:0.0:0.6194:0.0	.	526;381;656	Q9H9V2;E7EVR9;Q9BW92	.;.;SYTM_HUMAN	T	526;656;381;381	ENSP00000358050:R526T;ENSP00000358060:R656T;ENSP00000358047:R381T	ENSP00000358047:R381T	R	+	2	0	TARS2	148744764	1.000000	0.71417	0.990000	0.47175	0.670000	0.39368	3.900000	0.56295	0.543000	0.28864	-0.150000	0.13652	AGA		PASS	0.567	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		33	164	33	164	---	---	---	---
PI4KB	5298	broad.mit.edu	37	1	151288358	151288358	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:151288358G>T	ENST00000368873.1	-	2	768	c.600C>A	c.(598-600)caC>caA	p.H200Q	PI4KB_ENST00000271657.5_Missense_Mutation_p.H212Q|PI4KB_ENST00000368874.4_Missense_Mutation_p.H200Q|PI4KB_ENST00000368875.2_Missense_Mutation_p.H212Q|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368872.1_Missense_Mutation_p.H200Q			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	200	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.H212Q(1)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGCGGCAACGGTGGACTATGT	0.517																																					Colon(154;765 1838 9854 28443 37492)	uc001ext.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(598-600)CAC>CAA		catalytic phosphatidylinositol 4-kinase beta							117.0	103.0	108.0					1																	151288358		2203	4300	6503	SO:0001583	missense	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151288358G>T	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.600C>A	1.37:g.151288358G>T	ENSP00000357867:p.His200Gln					PI4KB_uc001exr.2_Missense_Mutation_p.H212Q|PI4KB_uc001exs.2_Missense_Mutation_p.H200Q|PI4KB_uc001exu.2_Missense_Mutation_p.H200Q|PI4KB_uc010pcw.1_Intron|PI4KB_uc009wmq.1_Missense_Mutation_p.H212Q	p.H200Q	NM_002651	NP_002642	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	1015	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		200					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37	c.600C>A		.	.	.	.	.	.	.	.	.	.	G	12.18	1.861109	0.32884	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000368872;ENST00000438243	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	4.98	2.04	0.26737	.	0.162435	0.56097	D	0.000036	T	0.20536	0.0494	L	0.40543	1.245	0.45762	D	0.998653	B;P;P	0.40266	0.162;0.586;0.71	B;B;B	0.40066	0.075;0.127;0.318	T	0.02150	-1.1205	10	0.30078	T	0.28	-16.9794	8.2898	0.31950	0.3227:0.0:0.6773:0.0	.	200;200;200	E9PIH4;Q9UBF8;Q9UBF8-2	.;PI4KB_HUMAN;.	Q	200;212;212;200;200;200	ENSP00000357868:H200Q;ENSP00000357869:H212Q;ENSP00000271657:H212Q;ENSP00000357867:H200Q;ENSP00000357866:H200Q;ENSP00000394719:H200Q	ENSP00000271657:H212Q	H	-	3	2	PI4KB	149554982	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	2.762000	0.47597	0.686000	0.31488	0.655000	0.94253	CAC		PASS	0.517	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		32	103	32	103	---	---	---	---
ZBTB7B	51043	broad.mit.edu	37	1	154987962	154987962	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:154987962G>C	ENST00000368426.3	+	3	963	c.826G>C	c.(826-828)Gag>Cag	p.E276Q	ZBTB7B_ENST00000535420.1_Missense_Mutation_p.E276Q|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.E310Q|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.E276Q	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	276					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E276Q(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTATGAGGGTGAGGAAGAAGA	0.667																																						uc001fgk.3																			1	Substitution - Missense(1)		lung(1)		0						c.(826-828)GAG>CAG		zinc finger and BTB domain containing 7B							37.0	38.0	38.0					1																	154987962		2201	4300	6501	SO:0001583	missense	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154987962G>C	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.826G>C	1.37:g.154987962G>C	ENSP00000357411:p.Glu276Gln					ZBTB7B_uc009wpa.2_Missense_Mutation_p.E276Q|ZBTB7B_uc001fgj.3_Missense_Mutation_p.E310Q|ZBTB7B_uc010peq.1_Missense_Mutation_p.E310Q|ZBTB7B_uc001fgl.3_Missense_Mutation_p.E276Q	p.E276Q	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	984	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		276					B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	37	c.826G>C	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055324	0.36277	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.08807	3.07;3.07;3.05;3.07	4.3	4.3	0.51218	.	0.553149	0.16944	N	0.193165	T	0.03095	0.0091	N	0.19112	0.55	0.32890	D	0.511796	P;P;P	0.47409	0.895;0.895;0.895	B;B;B	0.43838	0.433;0.433;0.433	T	0.51124	-0.8745	10	0.26408	T	0.33	.	14.2965	0.66316	0.0:0.0:1.0:0.0	.	276;276;310	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	Q	276;276;310;276	ENSP00000438647:E276Q;ENSP00000357411:E276Q;ENSP00000406286:E310Q;ENSP00000292176:E276Q	ENSP00000292176:E276Q	E	+	1	0	ZBTB7B	153254586	0.959000	0.32827	1.000000	0.80357	0.976000	0.68499	3.455000	0.52993	2.229000	0.72834	0.462000	0.41574	GAG		PASS	0.667	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		6	90	6	90	---	---	---	---
DAP3	7818	broad.mit.edu	37	1	155701182	155701182	+	Silent	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:155701182G>A	ENST00000368336.5	+	10	1003	c.879G>A	c.(877-879)ttG>ttA	p.L293L	MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000471642.2_Silent_p.L252L|DAP3_ENST00000421487.2_Silent_p.L259L|DAP3_ENST00000343043.3_Silent_p.L293L|DAP3_ENST00000535183.1_Silent_p.L252L|MSTO1_ENST00000538143.1_Intron	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	293					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)	p.L293L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TTCACAACTTGAGGAAAATGA	0.378																																						uc001flq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(877-879)TTG>TTA		death-associated protein 3							146.0	138.0	141.0					1																	155701182		2203	4300	6503	SO:0001819	synonymous_variant	7818				induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding	g.chr1:155701182G>A	X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.879G>A	1.37:g.155701182G>A						DAP3_uc001flr.2_Silent_p.L293L|DAP3_uc001fls.2_Silent_p.L293L|DAP3_uc010pgl.1_Silent_p.L252L|DAP3_uc001flt.2_Silent_p.L259L|DAP3_uc001flu.2_Silent_p.L266L|DAP3_uc010pgm.1_Silent_p.L259L	p.L293L	NM_033657	NP_387506	P51398	RT29_HUMAN			10	1048	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		293					B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Silent	SNP	ENST00000368336.5	37	c.879G>A	CCDS1120.1																																																																																				PASS	0.378	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086042.1	NM_004632		19	225	19	225	---	---	---	---
DAP3	7818	broad.mit.edu	37	1	155701194	155701194	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:155701194G>C	ENST00000368336.5	+	10	1015	c.891G>C	c.(889-891)atG>atC	p.M297I	MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000471642.2_Missense_Mutation_p.M256I|DAP3_ENST00000421487.2_Missense_Mutation_p.M263I|DAP3_ENST00000343043.3_Missense_Mutation_p.M297I|DAP3_ENST00000535183.1_Missense_Mutation_p.M256I|MSTO1_ENST00000538143.1_Intron	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	297					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)	p.M297I(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GGAAAATGATGAAAAATGATT	0.358																																						uc001flq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(889-891)ATG>ATC		death-associated protein 3							142.0	133.0	136.0					1																	155701194		2203	4300	6503	SO:0001583	missense	7818				induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding	g.chr1:155701194G>C	X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.891G>C	1.37:g.155701194G>C	ENSP00000357320:p.Met297Ile					DAP3_uc001flr.2_Missense_Mutation_p.M297I|DAP3_uc001fls.2_Missense_Mutation_p.M297I|DAP3_uc010pgl.1_Missense_Mutation_p.M256I|DAP3_uc001flt.2_Missense_Mutation_p.M263I|DAP3_uc001flu.2_Missense_Mutation_p.M270I|DAP3_uc010pgm.1_Missense_Mutation_p.M263I	p.M297I	NM_033657	NP_387506	P51398	RT29_HUMAN			10	1060	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		297					B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Missense_Mutation	SNP	ENST00000368336.5	37	c.891G>C	CCDS1120.1	.	.	.	.	.	.	.	.	.	.	G	9.404	1.078852	0.20227	.	.	ENSG00000132676	ENST00000368336;ENST00000343043;ENST00000421487;ENST00000535183	T;T;T;T	0.41758	1.06;1.06;1.0;0.99	5.1	3.21	0.36854	.	0.245125	0.41500	D	0.000862	T	0.08268	0.0206	N	0.10874	0.06	0.35939	D	0.833102	B;B;B;B	0.12013	0.001;0.001;0.001;0.005	B;B;B;B	0.11329	0.003;0.006;0.006;0.003	T	0.16012	-1.0417	10	0.12430	T	0.62	-3.6957	9.9097	0.41397	0.0772:0.1392:0.7836:0.0	.	256;263;263;297	B4DP59;B4DY62;E7EM60;P51398	.;.;.;RT29_HUMAN	I	297;297;263;256	ENSP00000357320:M297I;ENSP00000341692:M297I;ENSP00000412605:M263I;ENSP00000445003:M256I	ENSP00000341692:M297I	M	+	3	0	DAP3	153967818	1.000000	0.71417	0.366000	0.25914	0.806000	0.45545	5.518000	0.67068	0.720000	0.32209	0.563000	0.77884	ATG		PASS	0.358	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086042.1	NM_004632		12	200	12	200	---	---	---	---
DAP3	7818	broad.mit.edu	37	1	155701791	155701791	+	Silent	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:155701791G>A	ENST00000368336.5	+	11	1084	c.960G>A	c.(958-960)cgG>cgA	p.R320R	MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000471642.2_Silent_p.R279R|DAP3_ENST00000421487.2_Silent_p.R286R|DAP3_ENST00000343043.3_Silent_p.R320R|DAP3_ENST00000535183.1_Silent_p.R279R|MSTO1_ENST00000538143.1_Intron	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	320					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)	p.R320R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TTAAGCCCCGGAAAGCCTATC	0.408																																						uc001flq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(958-960)CGG>CGA		death-associated protein 3							38.0	38.0	38.0					1																	155701791		2203	4300	6503	SO:0001819	synonymous_variant	7818				induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding	g.chr1:155701791G>A	X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.960G>A	1.37:g.155701791G>A						DAP3_uc001flr.2_Silent_p.R320R|DAP3_uc001fls.2_Silent_p.R320R|DAP3_uc010pgl.1_Silent_p.R279R|DAP3_uc001flt.2_Silent_p.R286R|DAP3_uc001flu.2_Silent_p.R293R|DAP3_uc010pgm.1_Silent_p.R286R	p.R320R	NM_033657	NP_387506	P51398	RT29_HUMAN			11	1129	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		320					B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Silent	SNP	ENST00000368336.5	37	c.960G>A	CCDS1120.1																																																																																				PASS	0.408	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086042.1	NM_004632		5	38	5	38	---	---	---	---
APOA1BP	128240	broad.mit.edu	37	1	156563782	156563782	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:156563782T>C	ENST00000368235.3	+	6	816	c.773T>C	c.(772-774)cTg>cCg	p.L258P	GPATCH4_ENST00000497287.1_5'Flank|APOA1BP_ENST00000368234.3_Silent_p.P239P	NM_144772.2	NP_658985.2			apolipoprotein A-I binding protein									p.L258P(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TACCATTACCTGGGGGGTCGT	0.552																																						uc001fph.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(772-774)CTG>CCG		apolipoprotein A-I binding protein precursor							104.0	104.0	104.0					1																	156563782		2203	4300	6503	SO:0001583	missense	128240					extracellular region	protein binding	g.chr1:156563782T>C	AJ315849	CCDS1145.1	1q21	2008-08-14			ENSG00000163382	ENSG00000163382			18453	protein-coding gene	gene with protein product	"""apoA-I binding protein"""	608862				11991719, 17533573	Standard	NM_144772		Approved	AIBP, MGC119143, MGC119144, MGC119145, YJEFN1	uc001fph.3	Q8NCW5	OTTHUMG00000033206	ENST00000368235.3:c.773T>C	1.37:g.156563782T>C	ENSP00000357218:p.Leu258Pro					APOA1BP_uc001fpg.2_3'UTR|APOA1BP_uc001fpi.2_Silent_p.P239P|APOA1BP_uc001fpj.2_Missense_Mutation_p.L175P|APOA1BP_uc001fpk.2_Missense_Mutation_p.L155P|APOA1BP_uc010php.1_Missense_Mutation_p.L155P	p.L258P	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN			6	812	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		258			YjeF N-terminal.			Missense_Mutation	SNP	ENST00000368235.3	37	c.773T>C	CCDS1145.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.341611	0.81911	.	.	ENSG00000163382	ENST00000446584;ENST00000368235	T	0.50813	0.73	5.04	5.04	0.67666	YjeF-related protein, N-terminal (4);	0.000000	0.64402	D	0.000001	T	0.71576	0.3356	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81015	-0.1124	9	.	.	.	-3.2099	13.6473	0.62290	0.0:0.0:0.0:1.0	.	258	Q8NCW5	AIBP_HUMAN	P	276;258	ENSP00000357218:L258P	.	L	+	2	0	APOA1BP	154830406	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	8.040000	0.89188	1.887000	0.54652	0.460000	0.39030	CTG		PASS	0.552	APOA1BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081044.1	NM_144772		66	236	66	236	---	---	---	---
OR6N1	128372	broad.mit.edu	37	1	158736259	158736259	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:158736259C>T	ENST00000335094.2	-	1	233	c.214G>A	c.(214-216)Ggc>Agc	p.G72S		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G72S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GCTGTATAGCCAAGCTCTGAG	0.488																																						uc010piq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(214-216)GGC>AGC		olfactory receptor, family 6, subfamily N,							87.0	82.0	84.0					1																	158736259		2203	4300	6503	SO:0001583	missense	128372				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158736259C>T	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.214G>A	1.37:g.158736259C>T	ENSP00000335535:p.Gly72Ser						p.G72S	NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN			1	214	-	all_hematologic(112;0.0378)		72			Helical; Name=2; (Potential).		Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	c.214G>A	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355597	0.61293	.	.	ENSG00000197403	ENST00000335094	T	0.01963	4.53	5.1	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000246	T	0.00754	0.0025	N	0.10760	0.04	0.31269	N	0.691925	P	0.50528	0.936	P	0.48982	0.597	T	0.55630	-0.8111	10	0.34782	T	0.22	-10.705	6.2397	0.20783	0.2831:0.6285:0.0:0.0884	.	72	Q8NGY5	OR6N1_HUMAN	S	72	ENSP00000335535:G72S	ENSP00000335535:G72S	G	-	1	0	OR6N1	157002883	0.000000	0.05858	1.000000	0.80357	0.868000	0.49771	-0.232000	0.09055	1.344000	0.45657	0.655000	0.94253	GGC		PASS	0.488	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		36	83	36	83	---	---	---	---
FMO1	2326	broad.mit.edu	37	1	171251429	171251429	+	Silent	SNP	T	T	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:171251429T>A	ENST00000354841.4	+	6	1271	c.1140T>A	c.(1138-1140)ccT>ccA	p.P380P	FMO1_ENST00000367750.3_Silent_p.P380P|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Silent_p.P317P	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	380					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.P380P(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	CCATGATACCTACAGGAGAAA	0.483																																						uc009wvz.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1138-1140)CCT>CCA		flavin containing monooxygenase 1							80.0	78.0	79.0					1																	171251429		2203	4300	6503	SO:0001819	synonymous_variant	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171251429T>A	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.1140T>A	1.37:g.171251429T>A						FMO1_uc010pme.1_Silent_p.P317P|FMO1_uc001ghl.2_Silent_p.P380P|FMO1_uc001ghm.2_Silent_p.P380P|FMO1_uc001ghn.2_Silent_p.P380P	p.P380P	NM_002021	NP_002012	Q01740	FMO1_HUMAN			7	1276	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		380					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Silent	SNP	ENST00000354841.4	37	c.1140T>A	CCDS1294.1																																																																																				PASS	0.483	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		41	116	41	116	---	---	---	---
CEP350	9857	broad.mit.edu	37	1	180003168	180003168	+	Silent	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:180003168G>A	ENST00000367607.3	+	16	4315	c.3897G>A	c.(3895-3897)ctG>ctA	p.L1299L		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1299					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.L1299L(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TCACTGATCTGAACCCGGCAG	0.403																																						uc001gnt.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)	4						c.(3895-3897)CTG>CTA		centrosome-associated protein 350							86.0	80.0	82.0					1																	180003168		2203	4300	6503	SO:0001819	synonymous_variant	9857					centrosome|nucleus|spindle		g.chr1:180003168G>A	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.3897G>A	1.37:g.180003168G>A						CEP350_uc009wxl.2_Silent_p.L1298L|CEP350_uc001gnu.2_Silent_p.L1132L	p.L1299L	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			16	4280	+			1299					O75068|Q8TDK3|Q8WY20	Silent	SNP	ENST00000367607.3	37	c.3897G>A	CCDS1336.1																																																																																				PASS	0.403	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		18	62	18	62	---	---	---	---
GLUL	2752	broad.mit.edu	37	1	182356423	182356423	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:182356423C>A	ENST00000331872.6	-	3	711	c.171G>T	c.(169-171)ttG>ttT	p.L57F	GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000311223.5_Missense_Mutation_p.L57F|GLUL_ENST00000417584.2_Missense_Mutation_p.L57F|GLUL_ENST00000339526.4_Missense_Mutation_p.L57F	NM_001033044.2	NP_001028216.1	P15104	GLNA_HUMAN	glutamate-ammonia ligase	57					cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.L57F(1)		endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	TCCACTCAGGCAACTCTGGGG	0.468																																						uc001gpa.1																			1	Substitution - Missense(1)		lung(1)		0						c.(169-171)TTG>TTT		glutamine synthetase	Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)						72.0	76.0	75.0					1																	182356423		2203	4300	6503	SO:0001583	missense	2752				cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding	g.chr1:182356423C>A	AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"""glutamine synthetase"""	138290	"""glutamate-ammonia ligase (glutamine synthase)"""	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000331872.6:c.171G>T	1.37:g.182356423C>A	ENSP00000356537:p.Leu57Phe					GLUL_uc010pnt.1_5'Flank|GLUL_uc001gpb.1_Missense_Mutation_p.L57F|GLUL_uc001gpc.1_Missense_Mutation_p.L57F|GLUL_uc001gpd.1_Missense_Mutation_p.L57F	p.L57F	NM_001033056	NP_001028228	P15104	GLNA_HUMAN			3	383	-			57					Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	Missense_Mutation	SNP	ENST00000331872.6	37	c.171G>T	CCDS1344.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.243445	0.58995	.	.	ENSG00000135821	ENST00000331872;ENST00000311223;ENST00000417584;ENST00000339526;ENST00000435013	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	4.95	-1.61	0.08399	Glutamine synthetase, beta-Grasp (2);	0.000000	0.85682	D	0.000000	T	0.53753	0.1816	M	0.79693	2.465	0.80722	D	1	D	0.59767	0.986	D	0.72075	0.976	T	0.53858	-0.8379	10	0.87932	D	0	-16.2558	1.415	0.02299	0.1341:0.1725:0.2653:0.428	.	57	P15104	GLNA_HUMAN	F	57	ENSP00000356537:L57F;ENSP00000307900:L57F;ENSP00000398320:L57F;ENSP00000344958:L57F	ENSP00000307900:L57F	L	-	3	2	GLUL	180623046	0.001000	0.12720	0.993000	0.49108	0.892000	0.51952	-1.810000	0.01729	-0.111000	0.12001	-0.259000	0.10710	TTG		PASS	0.468	GLUL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091043.1	NM_002065		32	103	32	103	---	---	---	---
CFH	3075	broad.mit.edu	37	1	196646728	196646728	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:196646728A>G	ENST00000367429.4	+	5	790	c.550A>G	c.(550-552)Att>Gtt	p.I184V	CFH_ENST00000359637.2_Intron|CFH_ENST00000439155.2_Missense_Mutation_p.I184V	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	184	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.I184V(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AGGCTACAAGATTGAAGGAGA	0.383																																						uc001gtj.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)|breast(1)	6						c.(550-552)ATT>GTT		complement factor H isoform a precursor							219.0	194.0	202.0					1																	196646728		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196646728A>G	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.550A>G	1.37:g.196646728A>G	ENSP00000356399:p.Ile184Val					CFH_uc001gti.3_Missense_Mutation_p.I184V|CFH_uc009wyw.2_Missense_Mutation_p.I184V|CFH_uc009wyx.2_Intron	p.I184V	NM_000186	NP_000177	P08603	CFAH_HUMAN			5	790	+			184			Sushi 3.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.550A>G	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	A	10.59	1.392667	0.25118	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986	T;T	0.64085	-0.08;-0.08	5.21	0.233	0.15386	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.45357	0.1338	L	0.33093	0.98	0.09310	N	1	B;B;B	0.31174	0.311;0.132;0.132	B;B;B	0.30251	0.035;0.113;0.029	T	0.35001	-0.9806	9	0.52906	T	0.07	.	4.6	0.12348	0.4185:0.4052:0.0:0.1763	.	184;184;184	P08603-2;P08603;F8WDX4	.;CFAH_HUMAN;.	V	184	ENSP00000356399:I184V;ENSP00000402656:I184V	ENSP00000356399:I184V	I	+	1	0	CFH	194913351	0.001000	0.12720	0.000000	0.03702	0.017000	0.09413	-0.014000	0.12656	0.012000	0.14892	-0.619000	0.04042	ATT		PASS	0.383	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		68	218	68	218	---	---	---	---
CFHR2	3080	broad.mit.edu	37	1	196883661	196883661	+	Intron	SNP	C	C	A	rs558763168		TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:196883661C>A	ENST00000367421.3	+	2	135				CFHR4_ENST00000367418.2_Missense_Mutation_p.A159D|CFHR4_ENST00000251424.4_Missense_Mutation_p.A159D|CFHR4_ENST00000367416.2_Missense_Mutation_p.A405D|CFHR4_ENST00000608469.1_Intron			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)		p.A159D(1)|p.A405D(1)		large_intestine(2)|ovary(1)|skin(3)	6						AATTCCAGAGCCAAGAGTAAT	0.383																																						uc001gto.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(475-477)GCC>GAC		complement factor H-related 4 precursor							110.0	100.0	103.0					1																	196883661		1885	4114	5999	SO:0001627	intron_variant	10877					extracellular region	lipid transporter activity	g.chr1:196883661C>A	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-34924C>A	1.37:g.196883661C>A						CFHR4_uc009wyy.2_Missense_Mutation_p.A405D|CFHR4_uc001gtp.2_Missense_Mutation_p.A406D	p.A159D	NM_006684	NP_006675	Q92496	FHR4_HUMAN			4	545	+			159			Sushi 3.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.476C>A		.	.	.	.	.	.	.	.	.	.	c	12.33	1.904442	0.33628	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	T;T;T	0.63913	-0.07;-0.07;-0.07	4.06	-2.07	0.07276	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.62514	0.2434	L	0.47716	1.5	0.09310	N	1	D;D;D	0.89917	0.997;1.0;0.999	P;D;D	0.79784	0.885;0.993;0.966	T	0.52426	-0.8577	9	0.31617	T	0.26	.	0.3248	0.00309	0.2261:0.3122:0.2155:0.2462	.	405;406;159	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	D	405;159;159;159	ENSP00000356386:A405D;ENSP00000356388:A159D;ENSP00000251424:A159D	ENSP00000251424:A159D	A	+	2	0	CFHR4	195150284	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.392000	0.07314	-0.064000	0.13043	-0.487000	0.04747	GCC		PASS	0.383	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		33	129	33	129	---	---	---	---
NAV1	89796	broad.mit.edu	37	1	201682034	201682034	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:201682034C>A	ENST00000367296.4	+	2	1267	c.847C>A	c.(847-849)Cag>Aag	p.Q283K	NAV1_ENST00000367297.4_Missense_Mutation_p.Q283K|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Missense_Mutation_p.Q283K|NAV1_ENST00000367302.1_Missense_Mutation_p.Q296K|NAV1_ENST00000295624.6_Missense_Mutation_p.Q283K	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	283					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.Q283K(1)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GCGAGGGTCCCAGGTGACTCA	0.622																																						uc001gwu.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(847-849)CAG>AAG		neuron navigator 1							74.0	74.0	74.0					1																	201682034		2203	4300	6503	SO:0001583	missense	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201682034C>A	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.847C>A	1.37:g.201682034C>A	ENSP00000356265:p.Gln283Lys						p.Q283K	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN			2	1194	+			283					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	c.847C>A	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129791	0.56721	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.65	4.73	0.59995	.	0.064498	0.64402	D	0.000006	T	0.53738	0.1815	M	0.69358	2.11	0.43942	D	0.996604	P	0.52316	0.952	P	0.50860	0.652	T	0.60611	-0.7229	10	0.72032	D	0.01	-26.6855	16.274	0.82634	0.0:0.867:0.133:0.0	.	283	Q8NEY1-3	.	K	296;283;283;283;283	ENSP00000356271:Q296K;ENSP00000356265:Q283K;ENSP00000295624:Q283K;ENSP00000356266:Q283K;ENSP00000356269:Q283K	ENSP00000295624:Q283K	Q	+	1	0	NAV1	199948657	1.000000	0.71417	1.000000	0.80357	0.020000	0.10135	7.410000	0.80065	1.373000	0.46208	-0.305000	0.09177	CAG		PASS	0.622	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		41	151	41	151	---	---	---	---
TIMM17A	10440	broad.mit.edu	37	1	201924671	201924671	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:201924671G>C	ENST00000367287.4	+	1	53	c.17G>C	c.(16-18)cGa>cCa	p.R6P		NM_006335.2	NP_006326.1	Q99595	TI17A_HUMAN	translocase of inner mitochondrial membrane 17 homolog A (yeast)	6					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane presequence translocase complex (GO:0005744)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)	p.R6P(1)		kidney(1)|lung(3)|stomach(1)	5						GAGTACGCGCGAGAGCCTTGG	0.632																																						uc001gxc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(16-18)CGA>CCA		translocase of inner mitochondrial membrane 17							189.0	171.0	177.0					1																	201924671		2203	4300	6503	SO:0001583	missense	10440				protein targeting to mitochondrion	integral to membrane|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr1:201924671G>C	AF106622	CCDS1417.1	1q32.1	2008-05-23			ENSG00000134375	ENSG00000134375			17315	protein-coding gene	gene with protein product		605057				8893850, 10339406	Standard	NM_006335		Approved	TIM17, TIM17A	uc001gxc.3	Q99595	OTTHUMG00000035806	ENST00000367287.4:c.17G>C	1.37:g.201924671G>C	ENSP00000356256:p.Arg6Pro						p.R6P	NM_006335	NP_006326	Q99595	TI17A_HUMAN			1	53	+			6					B2RDM5|Q9BWF5	Missense_Mutation	SNP	ENST00000367287.4	37	c.17G>C	CCDS1417.1	.	.	.	.	.	.	.	.	.	.	G	35	5.567630	0.96540	.	.	ENSG00000134375	ENST00000367287	T	0.52526	0.66	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.71913	0.3396	H	0.94771	3.58	0.45567	D	0.998514	D	0.55385	0.971	P	0.54270	0.747	T	0.80935	-0.1160	10	0.87932	D	0	-0.9967	16.1957	0.82024	0.0:0.0:1.0:0.0	.	6	Q99595	TI17A_HUMAN	P	6	ENSP00000356256:R6P	ENSP00000356256:R6P	R	+	2	0	TIMM17A	200191294	0.998000	0.40836	0.021000	0.16686	0.698000	0.40448	8.322000	0.90000	2.770000	0.95276	0.655000	0.94253	CGA		PASS	0.632	TIMM17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087092.1	NM_006335		13	101	13	101	---	---	---	---
DSTYK	25778	broad.mit.edu	37	1	205117450	205117450	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:205117450C>G	ENST00000367162.3	-	12	2515	c.2485G>C	c.(2485-2487)Gtg>Ctg	p.V829L	DSTYK_ENST00000367161.3_Intron|DSTYK_ENST00000367160.4_Missense_Mutation_p.V488L	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	829	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.V290L(1)|p.V829L(1)		breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TAGACATCCACGGAATTATCG	0.483																																						uc001hbw.2																			2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(2485-2487)GTG>CTG		receptor interacting protein kinase 5 isoform 1							125.0	118.0	120.0					1																	205117450		2203	4300	6503	SO:0001583	missense	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205117450C>G	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.2485G>C	1.37:g.205117450C>G	ENSP00000356130:p.Val829Leu					DSTYK_uc001hbx.2_Intron	p.V829L	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN			12	2549	-			829			Protein kinase.		B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	ENST00000367162.3	37	c.2485G>C	CCDS1451.1	.	.	.	.	.	.	.	.	.	.	C	33	5.285840	0.95517	.	.	ENSG00000133059	ENST00000367160;ENST00000367162	T;T	0.64085	-0.08;1.83	5.85	5.85	0.93711	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74390	0.3710	L	0.48362	1.52	0.44635	D	0.997611	D	0.61697	0.99	D	0.67382	0.951	T	0.71553	-0.4558	10	0.42905	T	0.14	-20.1231	19.7585	0.96304	0.0:1.0:0.0:0.0	.	829	Q6XUX3	DUSTY_HUMAN	L	488;829	ENSP00000356128:V488L;ENSP00000356130:V829L	ENSP00000356128:V488L	V	-	1	0	DSTYK	203384073	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	7.213000	0.77950	2.773000	0.95371	0.655000	0.94253	GTG		PASS	0.483	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		21	70	21	70	---	---	---	---
PM20D1	148811	broad.mit.edu	37	1	205817012	205817012	+	Splice_Site	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:205817012C>T	ENST00000367136.4	-	2	301		c.e2+1		PM20D1_ENST00000460624.1_Splice_Site	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1						negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)	p.?(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TTGCAGCTGACCTTTATGAAT	0.433																																						uc001hdj.2																			1	Unknown(1)		lung(1)	skin(1)	1						c.e2+1		peptidase M20 domain containing 1 precursor							45.0	39.0	41.0					1																	205817012		2201	4278	6479	SO:0001630	splice_region_variant	148811					extracellular region	metal ion binding|peptidase activity	g.chr1:205817012C>T		CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.256+1G>A	1.37:g.205817012C>T						PM20D1_uc009xbr.2_Splice_Site	p.V86_splice	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		2	301	-	Breast(84;0.201)							Q6P4E3|Q96DM4	Splice_Site	SNP	ENST00000367136.4	37	c.256_splice	CCDS1460.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744281	0.30865	.	.	ENSG00000162877	ENST00000367136	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9323	0.89000	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PM20D1	204083635	1.000000	0.71417	0.961000	0.40146	0.230000	0.25150	4.792000	0.62467	2.417000	0.82017	0.561000	0.74099	.		PASS	0.433	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087736.1	NM_152491	Intron	29	119	29	119	---	---	---	---
PM20D1	148811	broad.mit.edu	37	1	205819137	205819137	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:205819137C>T	ENST00000367136.4	-	1	108	c.64G>A	c.(64-66)Gtc>Atc	p.V22I	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	22					negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)	p.V22I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GATCTGGAGACGGTAGGGAAA	0.607																																						uc001hdj.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(64-66)GTC>ATC		peptidase M20 domain containing 1 precursor							80.0	77.0	78.0					1																	205819137		2203	4300	6503	SO:0001583	missense	148811					extracellular region	metal ion binding|peptidase activity	g.chr1:205819137C>T		CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.64G>A	1.37:g.205819137C>T	ENSP00000356104:p.Val22Ile					PM20D1_uc009xbr.2_RNA	p.V22I	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		1	109	-	Breast(84;0.201)		22					Q6P4E3|Q96DM4	Missense_Mutation	SNP	ENST00000367136.4	37	c.64G>A	CCDS1460.1	.	.	.	.	.	.	.	.	.	.	C	3.151	-0.174248	0.06421	.	.	ENSG00000162877	ENST00000367136	T	0.06608	3.28	5.44	-1.79	0.07932	.	0.579358	0.17827	N	0.160672	T	0.03739	0.0106	L	0.36672	1.1	0.09310	N	1	B	0.25955	0.138	B	0.11329	0.006	T	0.39099	-0.9630	10	0.26408	T	0.33	.	3.6729	0.08280	0.4473:0.2864:0.0:0.2662	.	22	Q6GTS8	P20D1_HUMAN	I	22	ENSP00000356104:V22I	ENSP00000356104:V22I	V	-	1	0	PM20D1	204085760	0.000000	0.05858	0.008000	0.14137	0.032000	0.12392	-1.135000	0.03225	-0.116000	0.11893	-0.136000	0.14681	GTC		PASS	0.607	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087736.1	NM_152491		14	65	14	65	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215848158	215848159	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:215848158_215848159CC>AA	ENST00000307340.3	-	63	13480_13481	c.13094_13095GG>TT	c.(13093-13095)tGG>tTT	p.W4365F	USH2A_ENST00000366943.2_Missense_Mutation_p.W4365F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4365	Fibronectin type-III 29. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.W4365F(1)|p.W4365L(1)|p.W4365C(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACTGACGGCCCAAAGATCTGG	0.485										HNSCC(13;0.011)																												uc001hku.1																			3	Substitution - Missense(3)		lung(3)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(13093-13095)TGG>TGT|c.(13093-13095)TGG>TTG		usherin isoform B																																				SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215848158C>A|g.chr1:215848159C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.13094_13095delinsAA	1.37:g.215848158_215848159delinsAA	ENSP00000305941:p.Trp4365Phe	HNSCC(13;0.011)					p.W4365C|p.W4365L	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	13482|13481	-			4365			Extracellular (Potential).|Fibronectin type-III 29.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.13095G>T|c.13094G>T	CCDS31025.1																																																																																				PASS	0.485	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		26	109|110	26	109	---	---	---	---
ESRRG	2104	broad.mit.edu	37	1	216850834	216850834	+	Splice_Site	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:216850834C>T	ENST00000408911.3	-	2	210		c.e2-1		ESRRG_ENST00000463665.1_Splice_Site|ESRRG_ENST00000360012.3_Splice_Site|ESRRG_ENST00000493748.1_Splice_Site|ESRRG_ENST00000366940.2_Splice_Site|ESRRG_ENST00000487276.1_Splice_Site|ESRRG_ENST00000359162.2_Splice_Site|ESRRG_ENST00000493603.1_Splice_Site|ESRRG_ENST00000361395.2_Splice_Site|ESRRG_ENST00000366937.1_Splice_Site|ESRRG_ENST00000361525.3_Splice_Site|ESRRG_ENST00000366938.2_Splice_Site|ESRRG_ENST00000391890.3_Splice_Site	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma						gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.?(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GCAGAGAAGCCTGAGATTGAG	0.458																																						uc001hkw.1																			1	Unknown(1)		lung(1)	ovary(1)|kidney(1)	2						c.e2-1		estrogen-related receptor gamma isoform 1	Diethylstilbestrol(DB00255)						44.0	40.0	41.0					1																	216850834		2203	4300	6503	SO:0001630	splice_region_variant	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216850834C>T	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.57-1G>A	1.37:g.216850834C>T						ESRRG_uc001hky.1_Splice_Site|ESRRG_uc009xdp.1_Splice_Site|ESRRG_uc001hkz.1_Splice_Site|ESRRG_uc010puc.1_Splice_Site|ESRRG_uc001hla.1_Splice_Site|ESRRG_uc001hlb.1_Splice_Site|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Splice_Site|ESRRG_uc001hld.1_Splice_Site|ESRRG_uc001hkx.1_Splice_Site_p.R24_splice|ESRRG_uc009xdo.1_Splice_Site|ESRRG_uc001hle.1_Splice_Site	p.E19_splice	NM_001438	NP_001429	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	2	223	-								A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Splice_Site	SNP	ENST00000408911.3	37	c.57_splice	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259510	0.80246	.	.	ENSG00000196482	ENST00000366937;ENST00000408911	.	.	.	6.16	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7393	0.77876	0.0:0.9349:0.0:0.0651	.	.	.	.	.	-1	.	.	.	-	.	.	ESRRG	214917457	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	1.622000	0.50330	0.650000	0.86243	.		PASS	0.458	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595	Intron	19	50	19	50	---	---	---	---
EPRS	2058	broad.mit.edu	37	1	220178660	220178660	+	Nonsense_Mutation	SNP	T	T	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:220178660T>A	ENST00000366923.3	-	16	2262	c.1993A>T	c.(1993-1995)Aaa>Taa	p.K665*		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	665	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)	p.K665*(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TCTCCTTTTTTCAAATCCTTA	0.338																																						uc001hly.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1993-1995)AAA>TAA		glutamyl-prolyl tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						111.0	113.0	113.0					1																	220178660		2203	4294	6497	SO:0001587	stop_gained	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220178660T>A	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.1993A>T	1.37:g.220178660T>A	ENSP00000355890:p.Lys665*					EPRS_uc010puf.1_Nonsense_Mutation_p.K416*|EPRS_uc001hlz.1_Nonsense_Mutation_p.K672*|EPRS_uc009xdt.1_Nonsense_Mutation_p.K253*	p.K665*	NM_004446	NP_004437	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	16	2263	-			665			Glutamyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Nonsense_Mutation	SNP	ENST00000366923.3	37	c.1993A>T	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	T	41	9.038263	0.99044	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	.	.	.	5.23	1.43	0.22495	.	0.202789	0.50627	D	0.000103	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.9075	7.7686	0.28995	0.0:0.069:0.262:0.669	.	.	.	.	X	665;672;689	.	ENSP00000355890:K665X	K	-	1	0	EPRS	218245283	1.000000	0.71417	0.260000	0.24451	0.993000	0.82548	2.983000	0.49345	0.045000	0.15804	0.460000	0.39030	AAA		PASS	0.338	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		48	163	48	163	---	---	---	---
LEFTY2	7044	broad.mit.edu	37	1	226125443	226125443	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:226125443C>A	ENST00000366820.5	-	4	1147	c.799G>T	c.(799-801)Gag>Tag	p.E267*	RP4-559A3.6_ENST00000513672.1_RNA|LEFTY2_ENST00000420304.2_Nonsense_Mutation_p.E233*|LEFTY2_ENST00000474493.1_5'Flank	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	267					blood coagulation (GO:0007596)|cell growth (GO:0016049)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)		p.E267*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					ATGTACATCTCCTGGCGGCAG	0.637																																					Colon(172;116 2643 9098 43333)	uc001hpt.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(799-801)GAG>TAG		endometrial bleeding associated factor							20.0	22.0	21.0					1																	226125443		2203	4300	6503	SO:0001587	stop_gained	7044				cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	g.chr1:226125443C>A	U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768			3122	protein-coding gene	gene with protein product	"""transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)"""	601877	"""endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)"""	TGFB4, EBAF		9153275	Standard	NM_001172425		Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.799G>T	1.37:g.226125443C>A	ENSP00000355785:p.Glu267*					LEFTY2_uc010pvk.1_Nonsense_Mutation_p.E233*|LEFTY2_uc009xek.1_3'UTR	p.E267*	NM_003240	NP_003231	O00292	LFTY2_HUMAN			4	879	-	Breast(184;0.197)		267					B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9	Nonsense_Mutation	SNP	ENST00000366820.5	37	c.799G>T	CCDS1549.1	.	.	.	.	.	.	.	.	.	.	c	40	8.026878	0.98616	.	.	ENSG00000143768	ENST00000420304;ENST00000366820	.	.	.	4.97	3.03	0.35002	.	0.260360	0.43919	D	0.000514	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	7.9572	0.30049	0.0:0.7155:0.1461:0.1384	.	.	.	.	X	233;267	.	ENSP00000355785:E267X	E	-	1	0	LEFTY2	224192066	0.974000	0.33945	0.949000	0.38748	0.988000	0.76386	1.196000	0.32198	1.185000	0.42971	0.462000	0.41574	GAG		PASS	0.637	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091152.1	NM_003240		13	22	13	22	---	---	---	---
CDC42BPA	8476	broad.mit.edu	37	1	227327318	227327318	+	Missense_Mutation	SNP	C	C	A	rs370050361		TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:227327318C>A	ENST00000366769.3	-	10	2640	c.1349G>T	c.(1348-1350)cGc>cTc	p.R450L	CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R450L|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R450L|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R450L|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R450L|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R450L|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R450L	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.R450L(3)		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)				TTGCTCAAGGCGCTTAATTCT	0.358																																						uc001hqr.2																			3	Substitution - Missense(3)		lung(3)	lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11						c.(1348-1350)CGC>CTC		CDC42-binding protein kinase alpha isoform B							45.0	46.0	45.0					1																	227327318		2203	4300	6503	SO:0001583	missense	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.chr1:227327318C>A	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.1349G>T	1.37:g.227327318C>A	ENSP00000355731:p.Arg450Leu					CDC42BPA_uc001hqs.2_Missense_Mutation_p.R450L|CDC42BPA_uc009xes.2_Missense_Mutation_p.R450L|CDC42BPA_uc010pvs.1_Missense_Mutation_p.R450L	p.R450L	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN			10	2292	-		all_cancers(173;0.156)|Prostate(94;0.0792)	450			Potential.			Missense_Mutation	SNP	ENST00000366769.3	37	c.1349G>T	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306773	0.81247	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.67865	-0.28;-0.2;-0.29;-0.27;-0.28;-0.26;-0.28	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.82545	0.5060	M	0.73962	2.25	0.80722	D	1	D;P;D;B	0.76494	0.999;0.924;0.998;0.334	D;P;D;B	0.80764	0.978;0.515;0.994;0.143	T	0.82774	-0.0291	10	0.56958	D	0.05	.	19.8583	0.96775	0.0:1.0:0.0:0.0	.	450;450;450;450	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	L	450	ENSP00000355731:R450L;ENSP00000355729:R450L;ENSP00000335341:R450L;ENSP00000355728:R450L;ENSP00000355726:R450L;ENSP00000443275:R450L;ENSP00000355727:R450L	ENSP00000335341:R450L	R	-	2	0	CDC42BPA	225393941	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	6.862000	0.75484	2.688000	0.91661	0.573000	0.79308	CGC		PASS	0.358	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		16	49	16	49	---	---	---	---
URB2	9816	broad.mit.edu	37	1	229773946	229773946	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:229773946G>C	ENST00000258243.2	+	4	3722	c.3586G>C	c.(3586-3588)Gac>Cac	p.D1196H		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1196						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.D1196H(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TCCCAAAAAGGACTCCGTGTT	0.453																																						uc001hts.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(3586-3588)GAC>CAC		URB2 ribosome biogenesis 2 homolog							133.0	134.0	134.0					1																	229773946		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229773946G>C	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.3586G>C	1.37:g.229773946G>C	ENSP00000258243:p.Asp1196His					URB2_uc009xfd.1_Missense_Mutation_p.D1196H	p.D1196H	NM_014777	NP_055592	Q14146	URB2_HUMAN			4	3722	+			1196					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.3586G>C	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	7.184	0.590144	0.13812	.	.	ENSG00000135763	ENST00000258243	T	0.35421	1.31	5.65	2.69	0.31865	.	0.689729	0.15145	N	0.278022	T	0.20941	0.0504	N	0.24115	0.695	0.09310	N	1	P	0.41748	0.761	B	0.38296	0.27	T	0.07009	-1.0795	9	.	.	.	-0.7974	6.0306	0.19679	0.2193:0.1368:0.6439:0.0	.	1196	Q14146	URB2_HUMAN	H	1196	ENSP00000258243:D1196H	.	D	+	1	0	URB2	227840569	0.099000	0.21834	0.000000	0.03702	0.097000	0.18754	1.947000	0.40293	0.395000	0.25257	-0.225000	0.12378	GAC		PASS	0.453	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		54	216	54	216	---	---	---	---
ARID4B	51742	broad.mit.edu	37	1	235386562	235386562	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:235386562G>T	ENST00000264183.3	-	13	1481	c.984C>A	c.(982-984)aaC>aaA	p.N328K	ARID4B_ENST00000366603.2_Missense_Mutation_p.N328K|ARID4B_ENST00000349213.3_Missense_Mutation_p.N328K	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	328	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.|Glu-rich.				histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.N328K(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			CAGGTCGTTTGTTAATAGGTG	0.284																																						uc001hwq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(982-984)AAC>AAA		AT rich interactive domain 4B isoform 1							95.0	89.0	91.0					1																	235386562		2203	4300	6503	SO:0001583	missense	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235386562G>T	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.984C>A	1.37:g.235386562G>T	ENSP00000264183:p.Asn328Lys					ARID4B_uc001hwr.2_Missense_Mutation_p.N328K|ARID4B_uc001hws.3_Missense_Mutation_p.N328K|ARID4B_uc001hwt.3_Missense_Mutation_p.N9K	p.N328K	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		13	1482	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	328			ARID.|Glu-rich.		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	c.984C>A	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.636970	0.67130	.	.	ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183;ENST00000439834;ENST00000418304	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	5.35	2.98	0.34508	ARID/BRIGHT DNA-binding domain (5);	0.040613	0.85682	D	0.000000	T	0.68924	0.3054	L	0.43646	1.37	0.54753	D	0.999982	D;D;D;D	0.89917	0.988;0.998;1.0;0.997	D;D;D;D	0.85130	0.97;0.994;0.997;0.991	T	0.70324	-0.4903	10	0.87932	D	0	-19.5838	9.2265	0.37410	0.2897:0.0:0.7103:0.0	.	9;328;328;328	Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39	.;.;.;ARI4B_HUMAN	K	328	ENSP00000264184:N328K;ENSP00000355562:N328K;ENSP00000264183:N328K;ENSP00000391497:N328K	ENSP00000264183:N328K	N	-	3	2	ARID4B	233453185	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.035000	0.30216	1.299000	0.44798	0.563000	0.77884	AAC		PASS	0.284	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		17	49	17	49	---	---	---	---
HEATR1	55127	broad.mit.edu	37	1	236717960	236717960	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:236717960C>G	ENST00000366582.3	-	42	6130	c.6016G>C	c.(6016-6018)Gat>Cat	p.D2006H	HEATR1_ENST00000366581.2_Missense_Mutation_p.D1925H	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	2006					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.D2006H(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGCTGGGTATCAAAAAGGAAG	0.393																																						uc001hyd.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(6016-6018)GAT>CAT		protein BAP28							89.0	92.0	91.0					1																	236717960		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236717960C>G	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.6016G>C	1.37:g.236717960C>G	ENSP00000355541:p.Asp2006His					HEATR1_uc009xgh.1_Missense_Mutation_p.D1168H	p.D2006H	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		42	6141	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	2006					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.6016G>C	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792288	0.90453	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.63580	-0.05;-0.05	5.65	5.65	0.86999	BP28, C-terminal (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79964	0.4537	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.984;1.0	T	0.80350	-0.1419	10	0.87932	D	0	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	1925;2006	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	H	2006;1925	ENSP00000355541:D2006H;ENSP00000355540:D1925H	ENSP00000355540:D1925H	D	-	1	0	HEATR1	234784583	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.099000	0.76981	2.941000	0.99782	0.655000	0.94253	GAT		PASS	0.393	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		4	261	4	261	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237789106	237789106	+	Splice_Site	SNP	T	T	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:237789106T>A	ENST00000366574.2	+	40	6483		c.e40+2		RYR2_ENST00000360064.6_Splice_Site|RYR2_ENST00000542537.1_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.?(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAAAGTCCTGTAAGCAGTATG	0.428																																						uc001hyl.1																			1	Unknown(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.e40+2		cardiac muscle ryanodine receptor							68.0	66.0	67.0					1																	237789106		1945	4147	6092	SO:0001630	splice_region_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237789106T>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6166+2T>A	1.37:g.237789106T>A							p.S2056_splice	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		40	6286	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)						Q15411|Q546N8|Q5T3P2	Splice_Site	SNP	ENST00000366574.2	37	c.6166_splice	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.992402	0.74703	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1139	0.65139	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR2	235855729	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	6.832000	0.75329	2.081000	0.62600	0.459000	0.35465	.		PASS	0.428	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	Intron	15	45	15	45	---	---	---	---
ZP4	57829	broad.mit.edu	37	1	238053355	238053355	+	Splice_Site	SNP	C	C	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:238053355C>G	ENST00000366570.4	-	2	455	c.297G>C	c.(295-297)tgG>tgC	p.W99C	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	99					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.W99C(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCATACTCACCCACTCAGTGA	0.567																																					NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(295-297)TGG>TGC		zona pellucida glycoprotein 4 preproprotein							131.0	119.0	123.0					1																	238053355		2203	4300	6503	SO:0001630	splice_region_variant	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238053355C>G	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.297+1G>C	1.37:g.238053355C>G						LOC100130331_uc010pyc.1_Intron	p.W99C	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		2	297	-	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)	99			Extracellular (Potential).		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.297G>C	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702990	0.48412	.	.	ENSG00000116996	ENST00000366570	T	0.74737	-0.87	4.89	3.96	0.45880	.	1.182360	0.05740	N	0.601219	D	0.82944	0.5147	M	0.79805	2.47	0.52501	D	0.999957	D	0.65815	0.995	P	0.52672	0.706	T	0.73007	-0.4118	9	.	.	.	0.1866	9.6053	0.39630	0.0:0.9:0.0:0.1	.	99	Q12836	ZP4_HUMAN	C	99	ENSP00000355529:W99C	.	W	-	3	0	ZP4	236119978	0.859000	0.29813	0.753000	0.31225	0.717000	0.41224	1.408000	0.34668	1.005000	0.39183	0.655000	0.94253	TGG		PASS	0.567	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1		Missense_Mutation	61	215	61	215	---	---	---	---
C1orf101	257044	broad.mit.edu	37	1	244735962	244735962	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:244735962A>G	ENST00000366534.4	+	11	1892	c.1838A>G	c.(1837-1839)tAt>tGt	p.Y613C	C1orf101_ENST00000366533.4_Missense_Mutation_p.Y613C|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_Missense_Mutation_p.Y462C	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	613						CatSper complex (GO:0036128)		p.Y613C(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			CAGATCGTCTATCCAGAAAAC	0.393																																						uc001iam.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(1837-1839)TAT>TGT		hypothetical protein LOC257044 isoform 1							73.0	70.0	71.0					1																	244735962		2203	4300	6503	SO:0001583	missense	257044					integral to membrane		g.chr1:244735962A>G	BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.1838A>G	1.37:g.244735962A>G	ENSP00000355492:p.Tyr613Cys					C1orf101_uc001iak.1_Missense_Mutation_p.Y167C|C1orf101_uc001ial.2_Missense_Mutation_p.Y613C|C1orf101_uc010pym.1_Missense_Mutation_p.Y462C|C1orf101_uc010pyn.1_Missense_Mutation_p.Y546C	p.Y613C	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)		11	1897	+	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		613			Extracellular (Potential).		B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	ENST00000366534.4	37	c.1838A>G	CCDS44340.1	.	.	.	.	.	.	.	.	.	.	A	12.46	1.945382	0.34377	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	5.06	5.06	0.68205	.	0.000000	0.51477	D	0.000087	T	0.46347	0.1388	L	0.61218	1.895	0.32674	N	0.516424	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.59563	-0.7431	10	0.59425	D	0.04	.	11.4763	0.50300	1.0:0.0:0.0:0.0	.	533;613;613;462	B1AQM6;Q5SY80;Q5SY80-2;B4DZR4	.;CA101_HUMAN;.;.	C	613;613;613;533;462	ENSP00000355492:Y613C;ENSP00000355491:Y613C;ENSP00000395796:Y533C;ENSP00000355489:Y462C	ENSP00000355489:Y462C	Y	+	2	0	C1orf101	242802585	1.000000	0.71417	0.960000	0.40013	0.037000	0.13140	3.338000	0.52128	2.035000	0.60131	0.455000	0.32223	TAT		PASS	0.393	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		38	123	38	123	---	---	---	---
OR2M2	391194	broad.mit.edu	37	1	248343775	248343775	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:248343775C>T	ENST00000359682.2	+	1	488	c.488C>T	c.(487-489)aCa>aTa	p.T163I		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T163I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCTGTAGCCACATTTTCCTTC	0.418																																						uc010pzf.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(487-489)ACA>ATA		olfactory receptor, family 2, subfamily M,							212.0	210.0	211.0					1																	248343775		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343775C>T	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.488C>T	1.37:g.248343775C>T	ENSP00000352710:p.Thr163Ile						p.T163I	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	488	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		163			Extracellular (Potential).		A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.488C>T	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	c	7.876	0.729214	0.15507	.	.	ENSG00000198601	ENST00000359682	T	0.00258	8.41	1.88	0.9	0.19278	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31747	U	0.007123	T	0.00178	0.0005	L	0.48986	1.54	0.09310	N	1	B	0.19583	0.037	B	0.24006	0.05	T	0.36016	-0.9765	10	0.54805	T	0.06	.	6.1159	0.20126	0.0:0.7085:0.0:0.2915	.	163	Q96R28	OR2M2_HUMAN	I	163	ENSP00000352710:T163I	ENSP00000352710:T163I	T	+	2	0	OR2M2	246410398	0.000000	0.05858	0.006000	0.13384	0.003000	0.03518	-0.083000	0.11286	1.056000	0.40484	0.454000	0.30748	ACA		PASS	0.418	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		109	436	109	436	---	---	---	---
OR2G6	391211	broad.mit.edu	37	1	248685164	248685164	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:248685164T>C	ENST00000343414.4	+	1	249	c.217T>C	c.(217-219)Ttt>Ctt	p.F73L		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F73L(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGACATCTGCTTTACCACCAG	0.512																																						uc001ien.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(217-219)TTT>CTT		olfactory receptor, family 2, subfamily G,							122.0	106.0	112.0					1																	248685164		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685164T>C		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.217T>C	1.37:g.248685164T>C	ENSP00000341291:p.Phe73Leu						p.F73L	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	217	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	73			Helical; Name=2; (Potential).		B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.217T>C	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	10.16	1.274158	0.23221	.	.	ENSG00000188558	ENST00000343414	T	0.14022	2.54	3.68	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.158715	0.28933	U	0.013680	T	0.12774	0.0310	L	0.55990	1.75	0.09310	N	1	B	0.16166	0.016	B	0.13407	0.009	T	0.14200	-1.0481	10	0.48119	T	0.1	.	6.6289	0.22845	0.0:0.1131:0.0:0.8869	.	73	Q5TZ20	OR2G6_HUMAN	L	73	ENSP00000341291:F73L	ENSP00000341291:F73L	F	+	1	0	OR2G6	246751787	0.000000	0.05858	0.371000	0.25978	0.710000	0.40934	-0.065000	0.11617	1.523000	0.49018	0.329000	0.21502	TTT		PASS	0.512	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		45	143	45	143	---	---	---	---
OR2T11	127077	broad.mit.edu	37	1	248789685	248789685	+	Missense_Mutation	SNP	A	A	T	rs541912458	byFrequency	TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:248789685A>T	ENST00000330803.2	-	1	806	c.745T>A	c.(745-747)Tat>Aat	p.Y249N		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y249N(1)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCAGCCCCATAGAAGATGCTA	0.532																																						uc001ier.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(745-747)TAT>AAT		olfactory receptor, family 2, subfamily T,							68.0	65.0	66.0					1																	248789685		2051	4230	6281	SO:0001583	missense	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248789685A>T	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.745T>A	1.37:g.248789685A>T	ENSP00000328934:p.Tyr249Asn						p.Y249N	NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	745	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		249			Helical; Name=6; (Potential).		Q6IEY6	Missense_Mutation	SNP	ENST00000330803.2	37	c.745T>A	CCDS31122.1	.	.	.	.	.	.	.	.	.	.	.	13.56	2.272908	0.40194	.	.	ENSG00000183130	ENST00000330803	T	0.41400	1.0	4.24	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.202764	0.24597	N	0.037167	T	0.75191	0.3816	H	0.97564	4.03	0.29779	N	0.834139	D	0.89917	1.0	D	0.91635	0.999	T	0.78548	-0.2162	10	0.87932	D	0	.	12.4594	0.55723	1.0:0.0:0.0:0.0	.	249	Q8NH01	O2T11_HUMAN	N	249	ENSP00000328934:Y249N	ENSP00000328934:Y249N	Y	-	1	0	OR2T11	246856308	0.108000	0.22018	0.963000	0.40424	0.147000	0.21601	3.527000	0.53517	1.755000	0.51935	0.533000	0.62120	TAT		PASS	0.532	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		24	60	24	60	---	---	---	---
OR2T11	127077	broad.mit.edu	37	1	248789955	248789955	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:248789955T>C	ENST00000330803.2	-	1	536	c.475A>G	c.(475-477)Atc>Gtc	p.I159V		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I159V(1)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCATGGTGATGGGAGTGAGC	0.527																																						uc001ier.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(475-477)ATC>GTC		olfactory receptor, family 2, subfamily T,							53.0	60.0	58.0					1																	248789955		2050	4233	6283	SO:0001583	missense	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248789955T>C	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.475A>G	1.37:g.248789955T>C	ENSP00000328934:p.Ile159Val						p.I159V	NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	475	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		159			Extracellular (Potential).		Q6IEY6	Missense_Mutation	SNP	ENST00000330803.2	37	c.475A>G	CCDS31122.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.405780	0.00193	.	.	ENSG00000183130	ENST00000330803	T	0.00039	8.85	4.32	1.82	0.25136	GPCR, rhodopsin-like superfamily (1);	0.153822	0.30201	N	0.010164	T	0.00073	0.0002	N	0.17248	0.465	0.09310	N	1	B	0.06786	0.001	B	0.16289	0.015	T	0.06716	-1.0811	10	0.09590	T	0.72	.	6.3116	0.21169	0.0:0.0889:0.2635:0.6476	.	159	Q8NH01	O2T11_HUMAN	V	159	ENSP00000328934:I159V	ENSP00000328934:I159V	I	-	1	0	OR2T11	246856578	0.000000	0.05858	0.992000	0.48379	0.313000	0.28021	-1.386000	0.02537	0.684000	0.31448	-0.264000	0.10439	ATC		PASS	0.527	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		33	111	33	111	---	---	---	---
OR14I1	401994	broad.mit.edu	37	1	248845000	248845000	+	Silent	SNP	T	T	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr1:248845000T>C	ENST00000342623.3	-	1	629	c.606A>G	c.(604-606)tcA>tcG	p.S202S		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S202S(1)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GAACCAAGCATGAGCTCAGGG	0.483																																						uc001ieu.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(604-606)TCA>TCG		olfactory receptor, family 14, subfamily I,							78.0	84.0	82.0					1																	248845000		2203	4300	6503	SO:0001819	synonymous_variant	401994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248845000T>C		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.606A>G	1.37:g.248845000T>C							p.S202S	NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN			1	606	-			202			Helical; Name=5; (Potential).			Silent	SNP	ENST00000342623.3	37	c.606A>G	CCDS31125.1																																																																																				PASS	0.483	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		28	76	28	76	---	---	---	---
ALLC	55821	broad.mit.edu	37	2	3727499	3727499	+	Silent	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:3727499C>A	ENST00000252505.3	+	5	375	c.213C>A	c.(211-213)gtC>gtA	p.V71V		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	90					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)	p.V71V(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TCCAAGGAGTCATCCGGGGCT	0.552										HNSCC(21;0.051)																												uc010ewt.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(211-213)GTC>GTA		allantoicase isoform a							148.0	158.0	155.0					2																	3727499		2136	4226	6362	SO:0001819	synonymous_variant	55821						allantoicase activity	g.chr2:3727499C>A	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.213C>A	2.37:g.3727499C>A		HNSCC(21;0.051)					p.V71V	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	5	374	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	90					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Silent	SNP	ENST00000252505.3	37	c.213C>A	CCDS46223.1																																																																																				PASS	0.552	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			42	159	42	159	---	---	---	---
GREB1	9687	broad.mit.edu	37	2	11772040	11772040	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:11772040T>A	ENST00000381486.2	+	27	4917	c.4617T>A	c.(4615-4617)caT>caA	p.H1539Q	GREB1_ENST00000396123.1_Missense_Mutation_p.H537Q|GREB1_ENST00000234142.5_Missense_Mutation_p.H1539Q	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1539						integral component of membrane (GO:0016021)		p.H1539Q(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TGCAGAGCCATGAATATATAA	0.448																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(4615-4617)CAT>CAA		growth regulation by estrogen in breast cancer 1							87.0	81.0	83.0					2																	11772040		1889	4117	6006	SO:0001583	missense	9687					integral to membrane		g.chr2:11772040T>A		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4617T>A	2.37:g.11772040T>A	ENSP00000370896:p.His1539Gln					GREB1_uc002rbp.1_Missense_Mutation_p.H537Q	p.H1539Q	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	27	4917	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1539					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.4617T>A	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	T	0.382	-0.928075	0.02377	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.40476	1.03;1.03;1.03	5.48	-11.0	0.00169	.	0.343513	0.33477	N	0.004863	T	0.12220	0.0297	N	0.08118	0	0.21499	N	0.999664	B	0.02656	0.0	B	0.04013	0.001	T	0.03566	-1.1024	10	0.27785	T	0.31	-9.8421	4.0792	0.09919	0.0968:0.1894:0.191:0.5227	.	1539	Q4ZG55	GREB1_HUMAN	Q	1539;1539;537	ENSP00000370896:H1539Q;ENSP00000234142:H1539Q;ENSP00000379429:H537Q	ENSP00000234142:H1539Q	H	+	3	2	GREB1	11689491	0.000000	0.05858	0.005000	0.12908	0.010000	0.07245	-4.793000	0.00185	-2.451000	0.00543	-1.279000	0.01387	CAT		PASS	0.448	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		22	62	22	62	---	---	---	---
EPT1	85465	broad.mit.edu	37	2	26597907	26597907	+	Splice_Site	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:26597907G>T	ENST00000260585.7	+	6	692		c.e6-1			NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN	ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)	p.?(1)									TTTCCTTCCAGACTATTTCTT	0.383																																						uc010ykz.1																			1	Unknown(1)		lung(1)		0						c.e6-1		selenoprotein I							224.0	207.0	212.0					2																	26597907		1924	4142	6066	SO:0001630	splice_region_variant	85465				phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding	g.chr2:26597907G>T		CCDS46240.1	2p23.3	2012-03-01			ENSG00000138018	ENSG00000138018	2.7.8.1		29361	protein-coding gene	gene with protein product	"""selenoprotein I"""	607915				11214970, 17132865	Standard	NM_033505		Approved	KIAA1724, SELI, SEPI	uc021veu.1	Q9C0D9	OTTHUMG00000151931	ENST00000260585.7:c.574-1G>T	2.37:g.26597907G>T						EPT1_uc010eyl.1_Splice_Site	p.T192_splice	NM_033505	NP_277040	Q9C0D9	EPT1_HUMAN			6	721	+								Q63ZE3	Splice_Site	SNP	ENST00000260585.7	37	c.574_splice	CCDS46240.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.510625	0.85389	.	.	ENSG00000138018	ENST00000260585	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.338	0.90295	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPT1	26451411	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.951000	0.93025	2.741000	0.93983	0.585000	0.79938	.		PASS	0.383	EPT1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000324484.3	NM_033505.2	Intron	79	256	79	256	---	---	---	---
EMILIN1	11117	broad.mit.edu	37	2	27306531	27306531	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:27306531G>C	ENST00000380320.4	+	4	2591	c.2092G>C	c.(2092-2094)Gag>Cag	p.E698Q		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	698					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.E698Q(1)		breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGGCCACAGAGCATGCTAC	0.612																																						uc002rii.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2092-2094)GAG>CAG		elastin microfibril interfacer 1 precursor							92.0	93.0	92.0					2																	27306531		2203	4300	6503	SO:0001583	missense	11117				cell adhesion	collagen		g.chr2:27306531G>C	AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"""EMI domain containing"""	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.2092G>C	2.37:g.27306531G>C	ENSP00000369677:p.Glu698Gln					EMILIN1_uc002rik.3_5'UTR	p.E698Q	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN			4	2520	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		698			Potential.		A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Missense_Mutation	SNP	ENST00000380320.4	37	c.2092G>C	CCDS1733.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.56|17.56	3.419173|3.419173	0.62622|0.62622	.|.	.|.	ENSG00000138080|ENSG00000138080	ENST00000380320;ENST00000544143|ENST00000433140	T|.	0.64618|.	-0.11|.	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	0.205972|.	0.41001|.	D|.	0.000963|.	T|T	0.53834|0.53834	0.1821|0.1821	L|L	0.27053|0.27053	0.805|0.805	0.43250|0.43250	D|D	0.995176|0.995176	D|.	0.76494|.	0.999|.	D|.	0.63488|.	0.915|.	T|T	0.49123|0.49123	-0.8972|-0.8972	10|5	0.27785|.	T|.	0.31|.	-26.4445|-26.4445	15.5879|15.5879	0.76499|0.76499	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	698|.	Q9Y6C2|.	EMIL1_HUMAN|.	Q|H	698;24|23	ENSP00000369677:E698Q|.	ENSP00000369677:E698Q|.	E|Q	+|+	1|3	0|2	EMILIN1|EMILIN1	27160035|27160035	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.984000|0.984000	0.73092|0.73092	7.200000|7.200000	0.77838|0.77838	2.534000|2.534000	0.85438|0.85438	0.555000|0.555000	0.69702|0.69702	GAG|CAG		PASS	0.612	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046		31	153	31	153	---	---	---	---
SLC5A6	8884	broad.mit.edu	37	2	27426157	27426157	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:27426157C>A	ENST00000310574.3	-	11	1624	c.1151G>T	c.(1150-1152)cGa>cTa	p.R384L	SLC5A6_ENST00000408041.1_Missense_Mutation_p.R384L|SLC5A6_ENST00000461319.1_5'UTR	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	384					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.R384L(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	GAACCAAGGTCGAATCAGGTC	0.478																																						uc002rjd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1150-1152)CGA>CTA		solute carrier family 5 (sodium-dependent	Biotin(DB00121)|Lipoic Acid(DB00166)						100.0	102.0	101.0					2																	27426157		2203	4300	6503	SO:0001583	missense	8884				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity	g.chr2:27426157C>A	AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"""Solute carriers"""	11041	protein-coding gene	gene with protein product		604024	"""solute carrier family 5 (sodium-dependent vitamin transporter), member 6"""			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.1151G>T	2.37:g.27426157C>A	ENSP00000310208:p.Arg384Leu					SLC5A6_uc010eyv.1_Missense_Mutation_p.R384L	p.R384L	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN			11	1542	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		384					B2RB85|D6W549|Q969Y5	Missense_Mutation	SNP	ENST00000310574.3	37	c.1151G>T	CCDS1740.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642154	0.47153	.	.	ENSG00000138074	ENST00000310574;ENST00000408041	D;D	0.87179	-2.22;-2.22	5.71	3.82	0.43975	.	0.311822	0.30869	N	0.008719	T	0.81772	0.4893	L	0.51422	1.61	0.34527	D	0.708755	B	0.18610	0.029	B	0.23150	0.044	T	0.79541	-0.1761	10	0.62326	D	0.03	.	6.0295	0.19673	0.0:0.6422:0.0:0.3578	.	384	Q9Y289	SC5A6_HUMAN	L	384	ENSP00000310208:R384L;ENSP00000384853:R384L	ENSP00000310208:R384L	R	-	2	0	SLC5A6	27279661	0.995000	0.38212	0.998000	0.56505	0.956000	0.61745	2.863000	0.48396	0.665000	0.31066	-0.251000	0.11542	CGA		PASS	0.478	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095		19	83	19	83	---	---	---	---
SLC8A1	6546	broad.mit.edu	37	2	40656907	40656907	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:40656907C>G	ENST00000403092.1	-	2	547	c.514G>C	c.(514-516)Gtg>Ctg	p.V172L	SLC8A1_ENST00000542024.1_Missense_Mutation_p.V172L|SLC8A1_ENST00000332839.4_Missense_Mutation_p.V172L|SLC8A1_ENST00000406785.2_Missense_Mutation_p.V172L|SLC8A1_ENST00000405901.3_Missense_Mutation_p.V172L|SLC8A1_ENST00000542756.1_Missense_Mutation_p.V172L|SLC8A1_ENST00000406391.2_Missense_Mutation_p.V172L|SLC8A1_ENST00000408028.2_Missense_Mutation_p.V172L|SLC8A1_ENST00000402441.1_Missense_Mutation_p.V172L|SLC8A1_ENST00000405269.1_Missense_Mutation_p.V172L			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	172					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.V172L(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GCACTTCCCACGATGGTGCTA	0.468																																						uc002rrx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(514-516)GTG>CTG		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						99.0	88.0	92.0					2																	40656907		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656907C>G		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.514G>C	2.37:g.40656907C>G	ENSP00000384763:p.Val172Leu					SLC8A1_uc002rry.2_Missense_Mutation_p.V172L|SLC8A1_uc002rrz.2_Missense_Mutation_p.V172L|SLC8A1_uc002rsa.2_Missense_Mutation_p.V172L|SLC8A1_uc002rsd.3_Missense_Mutation_p.V172L|SLC8A1_uc002rsb.1_Missense_Mutation_p.V172L|SLC8A1_uc010fan.1_Missense_Mutation_p.V172L|SLC8A1_uc002rsc.1_Missense_Mutation_p.V172L	p.V172L	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	538	-			172			Alpha-1.|Helical; (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.514G>C	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541754	0.65198	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06	5.59	4.72	0.59763	Sodium/calcium exchanger membrane region (1);	0.057891	0.64402	D	0.000002	T	0.79435	0.4445	M	0.82433	2.59	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.981;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.99;1.0;1.0;1.0	T	0.82295	-0.0528	10	0.87932	D	0	.	12.2609	0.54649	0.0:0.9179:0.0:0.0821	.	172;172;172;172;172	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	L	172	ENSP00000383886:V172L;ENSP00000440727:V172L;ENSP00000384763:V172L;ENSP00000385678:V172L;ENSP00000385188:V172L;ENSP00000385535:V172L;ENSP00000332931:V172L;ENSP00000384908:V172L;ENSP00000385811:V172L;ENSP00000443515:V172L	ENSP00000332931:V172L	V	-	1	0	SLC8A1	40510411	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	7.663000	0.83820	1.384000	0.46424	0.563000	0.77884	GTG		PASS	0.468	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		13	133	13	133	---	---	---	---
BCL11A	53335	broad.mit.edu	37	2	60773218	60773218	+	Silent	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:60773218C>T	ENST00000335712.6	-	2	500	c.273G>A	c.(271-273)gaG>gaA	p.E91E	BCL11A_ENST00000359629.5_Silent_p.E91E|BCL11A_ENST00000538214.1_Silent_p.E91E|BCL11A_ENST00000358510.4_Silent_p.E91E|BCL11A_ENST00000356842.4_Silent_p.E91E|BCL11A_ENST00000537768.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	91	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.E91E(3)		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)			CTTTTTTCATCTCGATTGGTG	0.468			T	IGH@	B-CLL																																	uc002sae.1				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		3	Substitution - coding silent(3)		lung(3)	central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13						c.(271-273)GAG>GAA		B-cell CLL/lymphoma 11A isoform 1							166.0	158.0	161.0					2																	60773218		2203	4300	6503	SO:0001819	synonymous_variant	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60773218C>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.273G>A	2.37:g.60773218C>T						BCL11A_uc002sab.2_Silent_p.E91E|BCL11A_uc002sac.2_Silent_p.E91E|BCL11A_uc010ypi.1_5'UTR|BCL11A_uc010ypj.1_Silent_p.E91E|BCL11A_uc002saf.1_Silent_p.E91E|BCL11A_uc010fcg.2_Silent_p.E91E	p.E91E	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	501	-			91			Required for nuclear body formation and for SUMO1 recruitment (By similarity).		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	ENST00000335712.6	37	c.273G>A	CCDS1862.1																																																																																				PASS	0.468	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		18	183	18	183	---	---	---	---
PROKR1	10887	broad.mit.edu	37	2	68873182	68873182	+	Missense_Mutation	SNP	G	G	A	rs547173684		TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:68873182G>A	ENST00000303786.3	+	2	649	c.229G>A	c.(229-231)Ggc>Agc	p.G77S	PROKR1_ENST00000394342.2_Missense_Mutation_p.G77S			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	77					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.G77S(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCTGGTCTGCGGCATTGGAAA	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		24136	0.001		0.0	False		,,,				2504	0.0					uc010yqj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(229-231)GGC>AGC		G protein-coupled receptor 73							208.0	178.0	188.0					2																	68873182		2203	4300	6503	SO:0001583	missense	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68873182G>A	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.229G>A	2.37:g.68873182G>A	ENSP00000303775:p.Gly77Ser					PROKR1_uc002ses.2_RNA	p.G77S	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN			1	229	+			77			Helical; Name=1; (Potential).		A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	c.229G>A	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	G	34	5.328843	0.95733	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.36699	1.24;1.24	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.59362	0.2188	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.59721	-0.7401	10	0.66056	D	0.02	.	16.6708	0.85266	0.0:0.0:1.0:0.0	.	77	Q8TCW9	PKR1_HUMAN	S	77	ENSP00000303775:G77S;ENSP00000377874:G77S	ENSP00000303775:G77S	G	+	1	0	PROKR1	68726686	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.479000	0.97929	2.890000	0.99128	0.650000	0.86243	GGC		PASS	0.522	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			81	238	81	238	---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73678659	73678659	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:73678659G>T	ENST00000264448.6	+	8	5113	c.5002G>T	c.(5002-5004)Ggg>Tgg	p.G1668W	ALMS1_ENST00000409009.1_Missense_Mutation_p.G1626W|ALMS1_ENST00000377715.1_Missense_Mutation_p.G1668W	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1668	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.G1668W(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTCAAATAGGGGGAAGCCTGT	0.463																																						uc002sje.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(5008-5010)GGG>TGG		Alstrom syndrome 1							91.0	89.0	89.0					2																	73678659		1854	4095	5949	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73678659G>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.5002G>T	2.37:g.73678659G>T	ENSP00000264448:p.Gly1668Trp					ALMS1_uc002sjf.1_Missense_Mutation_p.G1626W|ALMS1_uc002sjg.2_Missense_Mutation_p.G1056W|ALMS1_uc002sjh.1_Missense_Mutation_p.G1056W	p.G1670W	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			10	5119	+			1668			24.|34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.5008G>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.205599	0.39003	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.15017	3.34;3.34;2.46	4.26	3.37	0.38596	.	0.564703	0.14751	N	0.300617	T	0.27098	0.0664	L	0.34521	1.04	0.09310	N	1	D;D;D	0.76494	0.964;0.999;0.999	P;D;D	0.74348	0.701;0.955;0.983	T	0.03374	-1.1043	10	0.72032	D	0.01	.	8.0681	0.30672	0.1093:0.0:0.8907:0.0	.	1668;1626;1668	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	W	1626;1668;1668	ENSP00000386627:G1626W;ENSP00000264448:G1668W;ENSP00000366944:G1668W	ENSP00000264448:G1668W	G	+	1	0	ALMS1	73532167	0.005000	0.15991	0.003000	0.11579	0.003000	0.03518	1.578000	0.36525	1.370000	0.46153	0.563000	0.77884	GGG		PASS	0.463	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		51	180	51	180	---	---	---	---
SEMA4F	10505	broad.mit.edu	37	2	74907075	74907075	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:74907075G>T	ENST00000357877.2	+	14	2201	c.2052G>T	c.(2050-2052)caG>caT	p.Q684H	SEMA4F_ENST00000339773.5_Missense_Mutation_p.Q529H	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	684					axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)	p.Q684H(1)		biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GTCGGCGTCAGCAGCGACGGC	0.627																																						uc002sna.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(2050-2052)CAG>CAT		semaphorin W precursor							56.0	62.0	59.0					2																	74907075		2203	4300	6503	SO:0001583	missense	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74907075G>T	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.2052G>T	2.37:g.74907075G>T	ENSP00000350547:p.Gln684His					SEMA4F_uc010ffr.1_Missense_Mutation_p.Q296H|SEMA4F_uc002snb.1_Missense_Mutation_p.Q296H|SEMA4F_uc002snc.1_Missense_Mutation_p.Q529H	p.Q684H	NM_004263	NP_004254	O95754	SEM4F_HUMAN			14	2163	+			684			Cytoplasmic (Potential).		Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	37	c.2052G>T	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.486218	0.44147	.	.	ENSG00000135622	ENST00000357877;ENST00000339773	T;T	0.21734	2.17;1.99	5.38	3.48	0.39840	.	0.000000	0.34580	U	0.003842	T	0.14056	0.0340	N	0.08118	0	0.33160	D	0.546884	P;P	0.47677	0.899;0.838	P;B	0.51355	0.667;0.364	T	0.04976	-1.0914	10	0.15499	T	0.54	.	9.3641	0.38215	0.0:0.1542:0.6875:0.1583	.	529;684	O95754-2;O95754	.;SEM4F_HUMAN	H	684;529	ENSP00000350547:Q684H;ENSP00000342675:Q529H	ENSP00000342675:Q529H	Q	+	3	2	SEMA4F	74760583	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	0.724000	0.25954	2.526000	0.85167	0.467000	0.42956	CAG		PASS	0.627	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		30	92	30	92	---	---	---	---
SEMA4F	10505	broad.mit.edu	37	2	74907083	74907083	+	Missense_Mutation	SNP	G	G	C	rs369671255		TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:74907083G>C	ENST00000357877.2	+	14	2209	c.2060G>C	c.(2059-2061)cGg>cCg	p.R687P	SEMA4F_ENST00000339773.5_Missense_Mutation_p.R532P	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	687					axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)	p.R687P(1)		biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CAGCAGCGACGGCGACAGAGG	0.632																																						uc002sna.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(2059-2061)CGG>CCG		semaphorin W precursor							56.0	62.0	60.0					2																	74907083		2203	4300	6503	SO:0001583	missense	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74907083G>C	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.2060G>C	2.37:g.74907083G>C	ENSP00000350547:p.Arg687Pro					SEMA4F_uc010ffr.1_Missense_Mutation_p.R299P|SEMA4F_uc002snb.1_Missense_Mutation_p.R299P|SEMA4F_uc002snc.1_Missense_Mutation_p.R532P	p.R687P	NM_004263	NP_004254	O95754	SEM4F_HUMAN			14	2171	+			687			Cytoplasmic (Potential).		Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	37	c.2060G>C	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482321	0.44147	.	.	ENSG00000135622	ENST00000357877;ENST00000339773	T;T	0.25414	2.0;1.8	5.38	2.07	0.26955	.	0.530157	0.16013	N	0.233701	T	0.12561	0.0305	N	0.08118	0	0.34909	D	0.747313	P;P	0.40794	0.729;0.609	B;B	0.38921	0.285;0.148	T	0.20940	-1.0260	10	0.72032	D	0.01	.	7.6059	0.28101	0.3284:0.0:0.6716:0.0	.	532;687	O95754-2;O95754	.;SEM4F_HUMAN	P	687;532	ENSP00000350547:R687P;ENSP00000342675:R532P	ENSP00000342675:R532P	R	+	2	0	SEMA4F	74760591	0.260000	0.24053	0.997000	0.53966	0.961000	0.63080	1.505000	0.35736	0.629000	0.30376	0.467000	0.42956	CGG		PASS	0.632	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		34	100	34	100	---	---	---	---
REG1A	5967	broad.mit.edu	37	2	79349975	79349975	+	Silent	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:79349975C>A	ENST00000233735.1	+	5	433	c.330C>A	c.(328-330)cgC>cgA	p.R110R		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	110	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.R110R(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						AGAACCGCCGCTGGCACTGGA	0.552																																						uc002snz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(328-330)CGC>CGA		regenerating islet-derived 1 alpha precursor							108.0	107.0	107.0					2																	79349975		2203	4300	6503	SO:0001819	synonymous_variant	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79349975C>A		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.330C>A	2.37:g.79349975C>A						REG1A_uc010ysd.1_Silent_p.R110R	p.R110R	NM_002909	NP_002900	P05451	REG1A_HUMAN			5	433	+			110			C-type lectin.		P11379|Q4ZG28	Silent	SNP	ENST00000233735.1	37	c.330C>A	CCDS1964.1																																																																																				PASS	0.552	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		54	185	54	185	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80136755	80136755	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:80136755G>T	ENST00000402739.4	+	6	893	c.888G>T	c.(886-888)gaG>gaT	p.E296D	CTNNA2_ENST00000496558.1_Missense_Mutation_p.E296D|CTNNA2_ENST00000466387.1_Missense_Mutation_p.E296D|CTNNA2_ENST00000361291.4_Missense_Mutation_p.E330D|CTNNA2_ENST00000541047.1_Missense_Mutation_p.E296D|CTNNA2_ENST00000540488.1_Missense_Mutation_p.E296D	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	296					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.E296D(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CGTTCAGCGAGGCCAGGTTCC	0.587																																						uc010ysh.1																			2	Substitution - Missense(2)		lung(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(886-888)GAG>GAT		catenin, alpha 2 isoform 1							62.0	66.0	65.0					2																	80136755		1986	4191	6177	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80136755G>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.888G>T	2.37:g.80136755G>T	ENSP00000384638:p.Glu296Asp					CTNNA2_uc010yse.1_Missense_Mutation_p.E296D|CTNNA2_uc010ysf.1_Missense_Mutation_p.E296D|CTNNA2_uc010ysg.1_Missense_Mutation_p.E296D	p.E296D	NM_004389	NP_004380	P26232	CTNA2_HUMAN			6	893	+			296					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.888G>T		.	.	.	.	.	.	.	.	.	.	G	14.11	2.436525	0.43224	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12;1.12	5.6	1.75	0.24633	.	0.000000	0.85682	D	0.000000	T	0.38108	0.1028	L	0.60455	1.87	0.51233	D	0.999916	B;P;P	0.35011	0.211;0.48;0.48	B;B;B	0.38562	0.147;0.276;0.144	T	0.09487	-1.0672	10	0.33141	T	0.24	.	8.907	0.35530	0.4267:0.0:0.5733:0.0	.	296;296;296	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	D	296;296;330;296;296;296	ENSP00000418191:E296D;ENSP00000419295:E296D;ENSP00000355398:E330D;ENSP00000384638:E296D;ENSP00000444675:E296D;ENSP00000441705:E296D	ENSP00000355398:E330D	E	+	3	2	CTNNA2	79990263	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.474000	0.45154	0.304000	0.22809	0.591000	0.81541	GAG		PASS	0.587	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		26	132	26	132	---	---	---	---
EIF2AK3	9451	broad.mit.edu	37	2	88874543	88874543	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:88874543C>T	ENST00000303236.3	-	13	2759	c.2458G>A	c.(2458-2460)Gaa>Aaa	p.E820K	AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Missense_Mutation_p.E669K	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	820	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)	p.E820K(1)		ovary(3)	3						TTCGGCTCTTCTTTACTGGAA	0.398																																					GBM(138;671 1851 16235 39058 45249)	uc002stc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2458-2460)GAA>AAA		eukaryotic translation initiation factor 2-alpha							125.0	126.0	125.0					2																	88874543		2203	4300	6503	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88874543C>T	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.2458G>A	2.37:g.88874543C>T	ENSP00000307235:p.Glu820Lys						p.E820K	NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN			13	2660	-			820			Cytoplasmic (Potential).|Protein kinase.		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.2458G>A	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121205	0.56613	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.74106	-0.69;-0.64;-0.81	5.99	5.99	0.97316	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.151234	0.64402	D	0.000013	T	0.71400	0.3335	L	0.58583	1.82	0.37277	D	0.907658	B	0.12630	0.006	B	0.08055	0.003	T	0.69960	-0.5003	10	0.51188	T	0.08	-19.2531	14.6077	0.68493	0.0:0.9307:0.0:0.0693	.	820	Q9NZJ5	E2AK3_HUMAN	K	669;820;669;699	ENSP00000408325:E669K;ENSP00000307235:E820K;ENSP00000412076:E699K	ENSP00000307235:E820K	E	-	1	0	EIF2AK3	88655658	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.558000	0.53749	2.847000	0.97988	0.655000	0.94253	GAA		PASS	0.398	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		36	317	36	317	---	---	---	---
PROM2	150696	broad.mit.edu	37	2	95947943	95947943	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:95947943A>G	ENST00000317620.9	+	14	1830	c.1697A>G	c.(1696-1698)tAc>tGc	p.Y566C	PROM2_ENST00000403131.2_Missense_Mutation_p.Y566C|PROM2_ENST00000542147.1_Missense_Mutation_p.Y566C|PROM2_ENST00000317668.4_Missense_Mutation_p.Y566C	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	566					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)	p.Y566C(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AACGACTCCTACGACCTGGAG	0.597																																						uc002suh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1696-1698)TAC>TGC		prominin 2 precursor							51.0	45.0	47.0					2																	95947943		2203	4300	6503	SO:0001583	missense	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95947943A>G	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1697A>G	2.37:g.95947943A>G	ENSP00000318270:p.Tyr566Cys					PROM2_uc002sui.2_Missense_Mutation_p.Y566C|PROM2_uc002suj.2_Missense_Mutation_p.Y220C|PROM2_uc002suk.2_Missense_Mutation_p.Y566C|PROM2_uc002sul.2_Missense_Mutation_p.Y92C|PROM2_uc002sum.2_RNA	p.Y566C	NM_144707	NP_653308	Q8N271	PROM2_HUMAN			14	1830	+			566			Extracellular (Potential).		A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	37	c.1697A>G	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	A	13.74	2.327500	0.41197	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.22	2.69	0.31865	.	0.333863	0.26065	N	0.026545	T	0.67915	0.2944	M	0.77616	2.38	0.46849	D	0.999226	D	0.76494	0.999	D	0.72075	0.976	T	0.66148	-0.5996	10	0.72032	D	0.01	-7.8269	7.7638	0.28968	0.6652:0.0:0.0:0.3348	.	566	Q8N271	PROM2_HUMAN	C	566	ENSP00000385716:Y566C;ENSP00000318520:Y566C;ENSP00000318270:Y566C;ENSP00000442542:Y566C	ENSP00000318270:Y566C	Y	+	2	0	PROM2	95311670	0.943000	0.32029	0.431000	0.26735	0.455000	0.32408	2.024000	0.41049	0.250000	0.21479	0.459000	0.35465	TAC		PASS	0.597	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		8	34	8	34	---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103125362	103125362	+	Silent	SNP	A	A	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:103125362A>G	ENST00000295269.4	+	6	1915	c.1458A>G	c.(1456-1458)aaA>aaG	p.K486K		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	486					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.K486K(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCAATAAAAAAGAATCCATCA	0.353																																						uc002tbz.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(1456-1458)AAA>AAG		solute carrier family 9 (sodium/hydrogen							122.0	129.0	127.0					2																	103125362		2203	4300	6503	SO:0001819	synonymous_variant	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103125362A>G		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1458A>G	2.37:g.103125362A>G							p.K486K	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			6	1915	+			486			Cytoplasmic (Potential).		Q69YK0	Silent	SNP	ENST00000295269.4	37	c.1458A>G	CCDS33264.1																																																																																				PASS	0.353	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		3	181	3	181	---	---	---	---
CCDC138	165055	broad.mit.edu	37	2	109429163	109429163	+	Splice_Site	SNP	A	A	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:109429163A>T	ENST00000295124.4	+	8	992	c.932A>T	c.(931-933)cAg>cTg	p.Q311L	CCDC138_ENST00000412964.2_Splice_Site_p.Q311L	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	311								p.Q311L(1)		endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						GATAATTTACAGGTAAGTTGC	0.318																																						uc002ten.1																			1	Substitution - Missense(1)		lung(1)		0						c.(931-933)CAG>CTG		coiled-coil domain containing 138							105.0	112.0	109.0					2																	109429163		2203	4298	6501	SO:0001630	splice_region_variant	165055							g.chr2:109429163A>T	AK057307	CCDS2080.1	2q13	2008-02-05			ENSG00000163006	ENSG00000163006			26531	protein-coding gene	gene with protein product						12477932	Standard	NM_144978		Approved	FLJ32745	uc002ten.1	Q96M89	OTTHUMG00000130980	ENST00000295124.4:c.933+1A>T	2.37:g.109429163A>T						CCDC138_uc002teo.1_Missense_Mutation_p.Q311L|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR	p.Q311L	NM_144978	NP_659415	Q96M89	CC138_HUMAN			8	992	+			311			Potential.		Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Missense_Mutation	SNP	ENST00000295124.4	37	c.932A>T	CCDS2080.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.5|23.5	4.426521|4.426521	0.83667|0.83667	.|.	.|.	ENSG00000163006|ENSG00000163006	ENST00000412964;ENST00000295124|ENST00000456512	D;D|.	0.88975|.	-2.45;-2.45|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.74543|.	0.3730|.	M|M	0.74258|0.74258	2.255|2.255	0.45403|0.45403	D|D	0.998382|0.998382	D;D|.	0.89917|.	1.0;0.97|.	D;P|.	0.83275|.	0.996;0.676|.	T|.	0.75062|.	-0.3450|.	10|.	0.48119|.	T|.	0.1|.	.|.	14.9865|14.9865	0.71351|0.71351	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	311;311|.	Q96M89-2;Q96M89|.	.;CC138_HUMAN|.	L|X	311|208	ENSP00000411800:Q311L;ENSP00000295124:Q311L|.	ENSP00000295124:Q311L|.	Q|R	+|+	2|1	0|2	CCDC138|CCDC138	108795595|108795595	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	6.053000|6.053000	0.71089|0.71089	2.176000|2.176000	0.68965|0.68965	0.533000|0.533000	0.62120|0.62120	CAG|AGA		PASS	0.318	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253593.1	NM_144978	Missense_Mutation	57	198	57	198	---	---	---	---
ANAPC1	64682	broad.mit.edu	37	2	112621316	112621316	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:112621316G>A	ENST00000341068.3	-	9	1760	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	330					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.R330C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GAGGTTGAGCGACTCTGGCTG	0.478																																						uc002thi.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(988-990)CGC>TGC		anaphase promoting complex subunit 1							66.0	69.0	68.0					2																	112621316		2203	4300	6503	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112621316G>A	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.988C>T	2.37:g.112621316G>A	ENSP00000339109:p.Arg330Cys						p.R330C	NM_022662	NP_073153	Q9H1A4	APC1_HUMAN			9	1235	-			330					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.988C>T	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309844	0.81247	.	.	ENSG00000153107	ENST00000341068	.	.	.	5.68	5.68	0.88126	.	0.169942	0.24879	U	0.034861	T	0.75459	0.3852	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.75780	-0.3197	9	0.56958	D	0.05	-24.2012	14.4997	0.67711	0.0:0.0:0.8179:0.1821	.	330	Q9H1A4	APC1_HUMAN	C	330	.	ENSP00000339109:R330C	R	-	1	0	ANAPC1	112337787	0.999000	0.42202	0.994000	0.49952	0.946000	0.59487	2.003000	0.40844	2.664000	0.90586	0.650000	0.86243	CGC		PASS	0.478	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		16	136	16	136	---	---	---	---
EPB41L5	57669	broad.mit.edu	37	2	120776748	120776748	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:120776748G>A	ENST00000263713.5	+	2	302	c.88G>A	c.(88-90)Gcc>Acc	p.A30T	EPB41L5_ENST00000452780.1_Missense_Mutation_p.A30T|EPB41L5_ENST00000443902.2_Missense_Mutation_p.A30T|EPB41L5_ENST00000331393.4_Missense_Mutation_p.A30T|EPB41L5_ENST00000443124.1_Missense_Mutation_p.A30T	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	30					actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)		p.A30T(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						ACAACGCGCCGCCACACATAT	0.493																																						uc002tmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(88-90)GCC>ACC		erythrocyte membrane protein band 4.1 like 5							278.0	272.0	274.0					2																	120776748		2203	4300	6503	SO:0001583	missense	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120776748G>A	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.88G>A	2.37:g.120776748G>A	ENSP00000263713:p.Ala30Thr					EPB41L5_uc010flk.2_Missense_Mutation_p.A30T|EPB41L5_uc010fll.2_Missense_Mutation_p.A30T|EPB41L5_uc002tmh.3_Missense_Mutation_p.A30T	p.A30T	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN			2	214	+			30					Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	37	c.88G>A	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312134	0.23821	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000331393;ENST00000443124;ENST00000452780	T;T;D;D;T	0.81821	-1.46;-1.47;-1.54;-1.54;-1.46	5.13	0.801	0.18679	.	0.339714	0.26804	N	0.022416	T	0.55178	0.1904	N	0.11560	0.145	0.28667	N	0.905846	B;B;B	0.23058	0.079;0.037;0.047	B;B;B	0.18263	0.007;0.021;0.003	T	0.39313	-0.9620	10	0.31617	T	0.26	.	2.4133	0.04430	0.1381:0.1235:0.4222:0.3162	.	30;30;30	Q9HCM4-4;Q9HCM4-2;Q9HCM4	.;.;E41L5_HUMAN	T	30	ENSP00000263713:A30T;ENSP00000393856:A30T;ENSP00000329687:A30T;ENSP00000393722:A30T;ENSP00000390439:A30T	ENSP00000263713:A30T	A	+	1	0	EPB41L5	120493218	0.052000	0.20516	0.343000	0.25615	0.645000	0.38454	1.116000	0.31221	0.141000	0.18875	0.655000	0.94253	GCC		PASS	0.493	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		74	426	74	426	---	---	---	---
GLI2	2736	broad.mit.edu	37	2	121747649	121747649	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:121747649C>G	ENST00000452319.1	+	14	4219	c.4159C>G	c.(4159-4161)Cgt>Ggt	p.R1387G	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.R1387G					GLI family zinc finger 2									p.R1387G(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCGTGGGGTACGTGCTGTGCA	0.692																																						uc010flp.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13						c.(4159-4161)CGT>GGT		GLI-Kruppel family member GLI2							16.0	18.0	17.0					2																	121747649		2199	4288	6487	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121747649C>G		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.4159C>G	2.37:g.121747649C>G	ENSP00000390436:p.Arg1387Gly					GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Missense_Mutation_p.R1059G|GLI2_uc002tmu.3_Missense_Mutation_p.R1042G	p.R1387G	NM_005270	NP_005261	P10070	GLI2_HUMAN			13	4189	+	Renal(3;0.0496)	Prostate(154;0.0623)	1387						Missense_Mutation	SNP	ENST00000452319.1	37	c.4159C>G	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	C	3.821	-0.037729	0.07497	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.14766	2.48;2.48	4.72	3.83	0.44106	.	0.504313	0.21639	N	0.071365	T	0.16557	0.0398	M	0.63428	1.95	0.20074	N	0.999936	B;B	0.14805	0.007;0.011	B;B	0.14578	0.005;0.011	T	0.12041	-1.0563	9	.	.	.	.	14.2189	0.65812	0.1505:0.8494:0.0:0.0	.	1387;1042	P10070;P10070-2	GLI2_HUMAN;.	G	1387	ENSP00000390436:R1387G;ENSP00000354586:R1387G	.	R	+	1	0	GLI2	121464119	0.996000	0.38824	0.204000	0.23530	0.403000	0.30841	3.497000	0.53295	1.178000	0.42870	0.455000	0.32223	CGT		PASS	0.692	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		5	26	5	26	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141110527	141110527	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:141110527G>T	ENST00000389484.3	-	76	12616	c.11645C>A	c.(11644-11646)gCa>gAa	p.A3882E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3882					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.A3882E(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTACCTTCTGCTATGCAGGT	0.323										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(11644-11646)GCA>GAA		low density lipoprotein-related protein 1B							167.0	168.0	168.0					2																	141110527		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141110527G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11645C>A	2.37:g.141110527G>T	ENSP00000374135:p.Ala3882Glu	TSP Lung(27;0.18)					p.A3882E	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)	76	12617	-		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)	3882			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11645C>A	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.3|29.3	4.995410|4.995410	0.93167|0.93167	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	D|.	0.90900|.	-2.75|.	5.6|5.6	5.6|5.6	0.85130|0.85130	Growth factor, receptor (1);|.	0.141971|.	0.46145|.	D|.	0.000302|.	T|T	0.75803|0.75803	0.3899|0.3899	M|M	0.69358|0.69358	2.11|2.11	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.59767|.	0.986|.	P|.	0.50970|.	0.655|.	T|T	0.72924|0.72924	-0.4144|-0.4144	10|5	0.40728|.	T|.	0.16|.	.|.	19.9709|19.9709	0.97285|0.97285	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3882|.	Q9NZR2|.	LRP1B_HUMAN|.	E|K	3882;3820|114	ENSP00000374135:A3882E|.	ENSP00000374135:A3882E|.	A|Q	-|-	2|1	0|0	LRP1B|LRP1B	140826997|140826997	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	5.043000|5.043000	0.64208|0.64208	2.796000|2.796000	0.96246|0.96246	0.591000|0.591000	0.81541|0.81541	GCA|CAG		PASS	0.323	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		27	207	27	207	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141460034	141460034	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:141460034C>T	ENST00000389484.3	-	38	7083	c.6112G>A	c.(6112-6114)Gga>Aga	p.G2038R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2038					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.G2038R(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATGCTATTCCCATGCTTACA	0.423										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(6112-6114)GGA>AGA		low density lipoprotein-related protein 1B							116.0	107.0	110.0					2																	141460034		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141460034C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6112G>A	2.37:g.141460034C>T	ENSP00000374135:p.Gly2038Arg	TSP Lung(27;0.18)					p.G2038R	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)	38	7084	-		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)	2038			Extracellular (Potential).|LDL-receptor class B 21.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.6112G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984157	0.74474	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95821	-3.82	5.16	5.16	0.70880	Six-bladed beta-propeller, TolB-like (1);	0.069703	0.56097	U	0.000024	D	0.97161	0.9072	M	0.74546	2.27	0.49915	D	0.99983	D	0.63880	0.993	P	0.62740	0.906	D	0.96142	0.9101	10	0.30854	T	0.27	.	19.0175	0.92900	0.0:1.0:0.0:0.0	.	2038	Q9NZR2	LRP1B_HUMAN	R	2038;1976	ENSP00000374135:G2038R	ENSP00000374135:G2038R	G	-	1	0	LRP1B	141176504	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.627000	0.61276	2.554000	0.86153	0.557000	0.71058	GGA		PASS	0.423	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		20	139	20	139	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141773277	141773277	+	Silent	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:141773277C>T	ENST00000389484.3	-	13	3149	c.2178G>A	c.(2176-2178)ggG>ggA	p.G726G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	726					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.G726G(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCTGTGAGTCCCATTCAAAA	0.373										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - coding silent(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(2176-2178)GGG>GGA		low density lipoprotein-related protein 1B							53.0	51.0	51.0					2																	141773277		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141773277C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2178G>A	2.37:g.141773277C>T		TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.G726G	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)	13	3150	-		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)	726			Extracellular (Potential).|LDL-receptor class B 8.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.2178G>A	CCDS2182.1																																																																																				PASS	0.373	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		7	62	7	62	---	---	---	---
IFIH1	64135	broad.mit.edu	37	2	163133387	163133387	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:163133387C>A	ENST00000263642.2	-	11	2509	c.2114G>T	c.(2113-2115)aGa>aTa	p.R705I		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	705	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.R705I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TATGGTATTTCTTAATTTGGT	0.338																																						uc002uce.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2113-2115)AGA>ATA		interferon induced with helicase C domain 1							167.0	161.0	163.0					2																	163133387		2203	4300	6503	SO:0001583	missense	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163133387C>A	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.2114G>T	2.37:g.163133387C>A	ENSP00000263642:p.Arg705Ile						p.R705I	NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN			11	2336	-			705			Helicase C-terminal.		Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	37	c.2114G>T	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124808	0.77436	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.04360	3.64	5.36	5.36	0.76844	Helicase, C-terminal (1);	0.088515	0.85682	D	0.000000	T	0.21062	0.0507	M	0.65498	2.005	0.49389	D	0.999785	D	0.89917	1.0	D	0.71184	0.972	T	0.00138	-1.2002	10	0.66056	D	0.02	-26.9558	19.0858	0.93202	0.0:1.0:0.0:0.0	.	705	Q9BYX4	IFIH1_HUMAN	I	705	ENSP00000263642:R705I	ENSP00000263642:R705I	R	-	2	0	IFIH1	162841633	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.629000	0.54266	2.483000	0.83821	0.650000	0.86243	AGA		PASS	0.338	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		112	272	112	272	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168100713	168100713	+	Silent	SNP	T	T	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:168100713T>C	ENST00000409195.1	+	9	2900	c.2811T>C	c.(2809-2811)ctT>ctC	p.L937L	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L937L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.L715L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	762					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.L937L(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGTGAAACTTGAAGAAGTTG	0.338																																						uc002udx.2																			1	Substitution - coding silent(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(2809-2811)CTT>CTC		xin actin-binding repeat containing 2 isoform 1							56.0	52.0	53.0					2																	168100713		1830	4090	5920	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168100713T>C	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2811T>C	2.37:g.168100713T>C						XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.L762L|XIRP2_uc010fpq.2_Silent_p.L715L|XIRP2_uc010fpr.2_Intron	p.L937L	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	2829	+			762					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.2811T>C	CCDS42769.1																																																																																				PASS	0.338	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		13	89	13	89	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170042302	170042302	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:170042302G>T	ENST00000263816.3	-	50	9841	c.9556C>A	c.(9556-9558)Cca>Aca	p.P3186T		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3186	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.P3186T(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TTTCCATCTGGTTCTCGGAGG	0.413																																						uc002ues.2																			1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(9556-9558)CCA>ACA		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						137.0	142.0	140.0					2																	170042302		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170042302G>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.9556C>A	2.37:g.170042302G>T	ENSP00000263816:p.Pro3186Thr						p.P3186T	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	50	9769	-			3186			EGF-like 12; calcium-binding (Potential).|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.9556C>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787808	0.70337	.	.	ENSG00000081479	ENST00000263816	D	0.81821	-1.54	5.97	4.14	0.48551	Growth factor, receptor (1);EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.103535	0.64402	D	0.000002	D	0.84000	0.5376	L	0.42487	1.325	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80236	-0.1466	10	0.25751	T	0.34	.	11.9642	0.53025	0.0655:0.1221:0.8124:0.0	.	3186	P98164	LRP2_HUMAN	T	3186	ENSP00000263816:P3186T	ENSP00000263816:P3186T	P	-	1	0	LRP2	169750548	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	7.834000	0.86773	0.834000	0.34852	0.655000	0.94253	CCA		PASS	0.413	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		53	268	53	268	---	---	---	---
HAT1	8520	broad.mit.edu	37	2	172822353	172822353	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:172822353C>T	ENST00000264108.4	+	6	571	c.535C>T	c.(535-537)Cag>Tag	p.Q179*	HAT1_ENST00000392584.1_Nonsense_Mutation_p.Q94*|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	179					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)	p.Q179*(1)		breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TGAAAGGCTTCAGACCTTTTT	0.398																																						uc002uhi.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(535-537)CAG>TAG		histone acetyltransferase 1							206.0	194.0	198.0					2																	172822353		2203	4300	6503	SO:0001587	stop_gained	8520				chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding	g.chr2:172822353C>T	AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"""	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.535C>T	2.37:g.172822353C>T	ENSP00000264108:p.Gln179*					HAT1_uc010fqi.2_Nonsense_Mutation_p.Q14*|HAT1_uc002uhj.2_Nonsense_Mutation_p.Q94*	p.Q179*	NM_003642	NP_003633	O14929	HAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		6	611	+			179					Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Nonsense_Mutation	SNP	ENST00000264108.4	37	c.535C>T	CCDS2245.1	.	.	.	.	.	.	.	.	.	.	C	34	5.308148	0.95629	.	.	ENSG00000128708	ENST00000392584;ENST00000264108	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-36.8964	20.3334	0.98727	0.0:1.0:0.0:0.0	.	.	.	.	X	94;179	.	ENSP00000264108:Q179X	Q	+	1	0	HAT1	172530599	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.818000	0.97014	0.591000	0.81541	CAG		PASS	0.398	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255377.1	NM_003642		126	318	126	318	---	---	---	---
STAT4	6775	broad.mit.edu	37	2	191905825	191905825	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:191905825T>G	ENST00000392320.2	-	15	1615	c.1301A>C	c.(1300-1302)cAg>cCg	p.Q434P	STAT4_ENST00000358470.4_Missense_Mutation_p.Q434P|STAT4_ENST00000470708.1_5'UTR	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	434					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.Q434P(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GAGGCAGATCTGTGTTTCAAA	0.383																																						uc002usm.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9						c.(1300-1302)CAG>CCG		signal transducer and activator of transcription							142.0	133.0	136.0					2																	191905825		2203	4300	6503	SO:0001583	missense	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191905825T>G		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1301A>C	2.37:g.191905825T>G	ENSP00000376134:p.Gln434Pro					STAT4_uc002usn.1_Missense_Mutation_p.Q434P|STAT4_uc010zgk.1_Missense_Mutation_p.Q279P|STAT4_uc002uso.2_Missense_Mutation_p.Q434P	p.Q434P	NM_003151	NP_003142	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		15	1555	-			434					Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.1301A>C	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.367747	0.82463	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	D;D	0.88124	-2.34;-2.34	6.16	6.16	0.99307	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.234704	0.41097	D	0.000952	D	0.92811	0.7714	M	0.78344	2.41	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.62560	0.904;0.904;0.904	D	0.93290	0.6667	10	0.66056	D	0.02	-41.6836	16.8061	0.85666	0.0:0.0:0.0:1.0	.	343;434;434	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	P	434	ENSP00000351255:Q434P;ENSP00000376134:Q434P	ENSP00000351255:Q434P	Q	-	2	0	STAT4	191614070	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.518000	0.60510	2.367000	0.80283	0.528000	0.53228	CAG		PASS	0.383	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		29	163	29	163	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196681578	196681578	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:196681578C>A	ENST00000312428.6	-	51	9635	c.9535G>T	c.(9535-9537)Gct>Tct	p.A3179S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3179	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.A3179S(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCTCATTAGCCAAGGCCTTG	0.398																																						uc002utj.3																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(2)	12						c.(9535-9537)GCT>TCT		dynein, axonemal, heavy chain 7							104.0	105.0	105.0					2																	196681578		1858	4100	5958	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196681578C>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.9535G>T	2.37:g.196681578C>A	ENSP00000311273:p.Ala3179Ser						p.A3179S	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			51	9636	-			3179			AAA 5 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.9535G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	4.693	0.128946	0.08981	.	.	ENSG00000118997	ENST00000312428	T	0.68181	-0.31	5.26	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.42223	0.1193	N	0.02403	-0.565	0.80722	D	1	P	0.37083	0.581	B	0.42319	0.383	T	0.50074	-0.8870	10	0.02654	T	1	.	14.9391	0.70980	0.1443:0.8557:0.0:0.0	.	3179	Q8WXX0	DYH7_HUMAN	S	3179	ENSP00000311273:A3179S	ENSP00000311273:A3179S	A	-	1	0	DNAH7	196389823	0.997000	0.39634	0.999000	0.59377	0.994000	0.84299	1.411000	0.34702	1.422000	0.47177	0.591000	0.81541	GCT		PASS	0.398	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		22	125	22	125	---	---	---	---
HECW2	57520	broad.mit.edu	37	2	197184089	197184089	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:197184089C>T	ENST00000260983.3	-	9	1707	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	HECW2_ENST00000409111.1_Missense_Mutation_p.E153K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	509					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.E509K(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGGTTGTCCTCCAGCTTTGTC	0.522																																						uc002utm.1																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.(1525-1527)GAG>AAG		HECT, C2 and WW domain containing E3 ubiquitin							70.0	65.0	67.0					2																	197184089		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197184089C>T	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1525G>A	2.37:g.197184089C>T	ENSP00000260983:p.Glu509Lys					HECW2_uc002utl.1_Missense_Mutation_p.E153K	p.E509K	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			9	1708	-			509					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.1525G>A	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	2.199	-0.383335	0.04966	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.30981	1.52;1.51	5.51	4.63	0.57726	.	2.537170	0.00873	N	0.002041	T	0.22360	0.0539	N	0.14661	0.345	0.09310	N	1	B	0.13594	0.008	B	0.14023	0.01	T	0.29088	-1.0023	10	0.07175	T	0.84	.	12.6563	0.56790	0.0:0.6816:0.3184:0.0	.	509	Q9P2P5	HECW2_HUMAN	K	153;509	ENSP00000386775:E153K;ENSP00000260983:E509K	ENSP00000260983:E509K	E	-	1	0	HECW2	196892334	0.877000	0.30153	0.238000	0.24106	0.156000	0.22039	4.436000	0.59948	1.551000	0.49450	0.561000	0.74099	GAG		PASS	0.522	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		11	69	11	69	---	---	---	---
PARD3B	117583	broad.mit.edu	37	2	206165365	206165365	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:206165365G>A	ENST00000406610.2	+	17	2504	c.2297G>A	c.(2296-2298)aGg>aAg	p.R766K	PARD3B_ENST00000462231.1_Missense_Mutation_p.R766K|PARD3B_ENST00000358768.2_Missense_Mutation_p.R704K|PARD3B_ENST00000349953.3_Missense_Mutation_p.R766K|PARD3B_ENST00000351153.1_Intron	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	766					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)		p.R704K(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CCCTTTCACAGGCCCCGGCCG	0.522																																						uc002var.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(2296-2298)AGG>AAG		par-3 partitioning defective 3 homolog B isoform							99.0	100.0	100.0					2																	206165365		1912	4132	6044	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206165365G>A	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2297G>A	2.37:g.206165365G>A	ENSP00000385848:p.Arg766Lys					PARD3B_uc010fub.1_Missense_Mutation_p.R766K|PARD3B_uc002vao.1_Missense_Mutation_p.R766K|PARD3B_uc002vap.1_Missense_Mutation_p.R704K|PARD3B_uc002vaq.1_Intron	p.R766K	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	17	2504	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	766					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.2297G>A		.	.	.	.	.	.	.	.	.	.	G	22.2	4.254439	0.80135	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000349953	T;T;T	0.32515	1.45;1.45;1.45	5.75	5.75	0.90469	.	0.128948	0.47852	D	0.000214	T	0.58119	0.2100	M	0.73217	2.22	0.52099	D	0.999949	D;D;D	0.89917	0.995;1.0;1.0	D;D;D	0.87578	0.978;0.998;0.998	T	0.56214	-0.8016	10	0.52906	T	0.07	.	19.9376	0.97146	0.0:0.0:1.0:0.0	.	766;704;766	Q8TEW8;Q8TEW8-2;Q8TEW8-5	PAR3L_HUMAN;.;.	K	766;704;766	ENSP00000385848:R766K;ENSP00000351618:R704K;ENSP00000340280:R766K	ENSP00000340280:R766K	R	+	2	0	PARD3B	205873610	1.000000	0.71417	1.000000	0.80357	0.313000	0.28021	8.030000	0.88816	2.711000	0.92665	0.655000	0.94253	AGG		PASS	0.522	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		61	115	61	115	---	---	---	---
ADAM23	8745	broad.mit.edu	37	2	207436469	207436469	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:207436469T>C	ENST00000264377.3	+	17	1913	c.1585T>C	c.(1585-1587)Tgt>Cgt	p.C529R	ADAM23_ENST00000374416.1_Missense_Mutation_p.C529R|ADAM23_ENST00000374415.3_Missense_Mutation_p.C529R	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	529	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.C529R(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TGGATTATGCTGTAAGAAATG	0.458																																					Melanoma(194;1127 2130 19620 24042 27855)	uc002vbq.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(1585-1587)TGT>CGT		ADAM metallopeptidase domain 23 preproprotein							120.0	110.0	113.0					2																	207436469		2203	4300	6503	SO:0001583	missense	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207436469T>C	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1585T>C	2.37:g.207436469T>C	ENSP00000264377:p.Cys529Arg					ADAM23_uc010ziv.1_RNA	p.C529R	NM_003812	NP_003803	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	17	1808	+			529			Disintegrin.|Extracellular (Potential).		A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	c.1585T>C	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.944782	0.73672	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.27256	1.68;1.68;1.68	6.16	6.16	0.99307	Blood coagulation inhibitor, Disintegrin (4);	0.000000	0.64402	D	0.000002	T	0.72045	0.3412	H	0.99668	4.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85324	0.1086	10	0.87932	D	0	.	15.7887	0.78332	0.0:0.0:0.0:1.0	.	529	O75077	ADA23_HUMAN	R	529;529;423;529	ENSP00000264377:C529R;ENSP00000363537:C529R;ENSP00000363536:C529R	ENSP00000264377:C529R	C	+	1	0	ADAM23	207144714	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	6.488000	0.73637	2.367000	0.80283	0.528000	0.53228	TGT		PASS	0.458	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		28	96	28	96	---	---	---	---
SMARCAL1	50485	broad.mit.edu	37	2	217285226	217285226	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:217285226T>C	ENST00000357276.4	+	5	1397	c.1067T>C	c.(1066-1068)cTt>cCt	p.L356P	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.L356P	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	356	HARP 2. {ECO:0000255|PROSITE- ProRule:PRU00800}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)	p.L356P(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CTTATTGCGCTTTTTAAACAG	0.443									Schimke Immuno-Osseous Dysplasia																													uc002vgc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|skin(1)	7						c.(1066-1068)CTT>CCT		SWI/SNF-related matrix-associated							128.0	122.0	124.0					2																	217285226		2203	4300	6503	SO:0001583	missense	50485	Schimke_Immuno-Osseous_Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217285226T>C	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.1067T>C	2.37:g.217285226T>C	ENSP00000349823:p.Leu356Pro					SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.L356P|SMARCAL1_uc010fvg.2_Missense_Mutation_p.L356P	p.L356P	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	5	1397	+		Renal(323;0.0458)	356			HARP 2.		A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	c.1067T>C	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	T	12.68	2.009616	0.35415	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000427645;ENST00000392128;ENST00000412913	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93	4.85	4.85	0.62838	HepA-related (1);	0.475484	0.22365	N	0.061032	D	0.84502	0.5486	M	0.74258	2.255	0.40725	D	0.982697	D	0.69078	0.997	D	0.68943	0.961	D	0.86762	0.1967	10	0.72032	D	0.01	-3.1144	13.4145	0.60961	0.0:0.0:0.0:1.0	.	356	Q9NZC9	SMAL1_HUMAN	P	356;356;255;220;76	ENSP00000349823:L356P;ENSP00000350940:L356P;ENSP00000392997:L255P;ENSP00000375974:L220P;ENSP00000390248:L76P	ENSP00000349823:L356P	L	+	2	0	SMARCAL1	216993471	0.155000	0.22806	0.713000	0.30519	0.181000	0.23173	3.114000	0.50383	2.048000	0.60808	0.459000	0.35465	CTT		PASS	0.443	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			3	134	3	134	---	---	---	---
WNT10A	80326	broad.mit.edu	37	2	219754802	219754802	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:219754802G>T	ENST00000258411.3	+	3	1106	c.473G>T	c.(472-474)gGc>gTc	p.G158V	WNT10A_ENST00000483911.1_3'UTR	NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	158					cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|epidermis morphogenesis (GO:0048730)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|neural crest cell differentiation (GO:0014033)|neuron differentiation (GO:0030182)|odontogenesis (GO:0042476)|positive regulation of gene expression (GO:0010628)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sebaceous gland development (GO:0048733)|skin development (GO:0043588)|tongue development (GO:0043586)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.G158V(1)		breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGGCCTGTGGCTGTGATGCG	0.632																																						uc002vjd.1																			1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(472-474)GGC>GTC		wingless-type MMTV integration site family,							80.0	66.0	71.0					2																	219754802		2203	4300	6503	SO:0001583	missense	80326				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219754802G>T	AB059569	CCDS2426.1	2q35	2008-05-23			ENSG00000135925	ENSG00000135925		"""Wingless-type MMTV integration sites"""	13829	protein-coding gene	gene with protein product		606268				11350055, 17847007	Standard	NM_025216		Approved		uc002vjd.1	Q9GZT5	OTTHUMG00000133085	ENST00000258411.3:c.473G>T	2.37:g.219754802G>T	ENSP00000258411:p.Gly158Val						p.G158V	NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	936	+		Renal(207;0.0474)	158					Q53S44|Q96TA7|Q9H7S8	Missense_Mutation	SNP	ENST00000258411.3	37	c.473G>T	CCDS2426.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647606	0.67358	.	.	ENSG00000135925	ENST00000258411	T	0.77750	-1.12	4.46	4.46	0.54185	.	0.109084	0.64402	D	0.000003	D	0.91253	0.7243	H	0.95224	3.64	0.80722	D	1	D	0.62365	0.991	D	0.74348	0.983	D	0.93809	0.7108	10	0.87932	D	0	.	16.2054	0.82126	0.0:0.0:1.0:0.0	.	158	Q9GZT5	WN10A_HUMAN	V	158	ENSP00000258411:G158V	ENSP00000258411:G158V	G	+	2	0	WNT10A	219463046	1.000000	0.71417	0.999000	0.59377	0.191000	0.23601	9.522000	0.98032	2.478000	0.83669	0.655000	0.94253	GGC		PASS	0.632	WNT10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256730.2	NM_025216		12	83	12	83	---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220355204	220355204	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:220355204T>C	ENST00000312358.7	+	37	9127	c.8995T>C	c.(8995-8997)Tat>Cat	p.Y2999H	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2999	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Y2999H(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GATCGTGCCCTATGCTGCCGA	0.672																																						uc010fwg.2																			1	Substitution - Missense(1)		lung(1)	stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(8995-8997)TAT>CAT		SPEG complex locus							40.0	47.0	45.0					2																	220355204		2115	4220	6335	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220355204T>C	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.8995T>C	2.37:g.220355204T>C	ENSP00000311684:p.Tyr2999His						p.Y2999H	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	37	8995	+		Renal(207;0.0183)	2999			Protein kinase 2.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.8995T>C	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	T	18.21	3.574455	0.65878	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.65549	-0.16	4.64	4.64	0.57946	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	0.36932	N	0.002327	T	0.69214	0.3086	L	0.33293	1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70605	-0.4826	10	0.48119	T	0.1	.	13.9151	0.63893	0.0:0.0:0.0:1.0	.	2999	Q15772	SPEG_HUMAN	H	2999	ENSP00000311684:Y2999H	ENSP00000265327:Y2999H	Y	+	1	0	SPEG	220063448	1.000000	0.71417	0.745000	0.31077	0.950000	0.60333	5.937000	0.70162	1.958000	0.56883	0.482000	0.46254	TAT		PASS	0.672	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		17	45	17	45	---	---	---	---
NEU2	4759	broad.mit.edu	37	2	233899526	233899526	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:233899526C>G	ENST00000233840.3	+	2	902	c.902C>G	c.(901-903)tCc>tGc	p.S301C		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	301					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)	p.S301C(1)		endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	CCCACACACTCCTGGCAGAGG	0.706																																						uc010zmn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(901-903)TCC>TGC		neuraminidase 2							36.0	42.0	40.0					2																	233899526		2203	4300	6503	SO:0001583	missense	4759						exo-alpha-sialidase activity	g.chr2:233899526C>G	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"""N-acetyl-alpha-neuraminidase 2"""	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.902C>G	2.37:g.233899526C>G	ENSP00000233840:p.Ser301Cys						p.S301C	NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	2	902	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	301					Q3KNW4|Q6NTB4	Missense_Mutation	SNP	ENST00000233840.3	37	c.902C>G	CCDS2501.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.149674	0.37923	.	.	ENSG00000115488	ENST00000233840	D	0.84873	-1.91	5.05	4.18	0.49190	Neuraminidase (2);	0.777662	0.11887	N	0.519975	D	0.89319	0.6681	M	0.66939	2.045	0.09310	N	1	D	0.63880	0.993	P	0.56648	0.803	T	0.80228	-0.1469	10	0.66056	D	0.02	-13.3765	12.4083	0.55453	0.0:0.9191:0.0:0.0809	.	301	Q9Y3R4	NEUR2_HUMAN	C	301	ENSP00000233840:S301C	ENSP00000233840:S301C	S	+	2	0	NEU2	233607770	0.019000	0.18553	0.008000	0.14137	0.083000	0.17756	1.371000	0.34250	1.128000	0.42052	0.655000	0.94253	TCC		PASS	0.706	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383		20	50	20	50	---	---	---	---
USP40	55230	broad.mit.edu	37	2	234449396	234449396	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:234449396G>C	ENST00000427112.2	-	9	1114	c.1079C>G	c.(1078-1080)cCt>cGt	p.P360R	USP40_ENST00000251722.6_Missense_Mutation_p.P360R|USP40_ENST00000450966.1_Missense_Mutation_p.P372R			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	360	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.P372R(2)		breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CTGATCAACAGGAATTAGATT	0.378																																						uc010zmr.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|breast(1)	3						c.(1114-1116)CCT>CGT		ubiquitin thioesterase 40							169.0	157.0	160.0					2																	234449396		1838	4092	5930	SO:0001583	missense	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234449396G>C	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.1079C>G	2.37:g.234449396G>C	ENSP00000387898:p.Pro360Arg					USP40_uc010zmt.1_Missense_Mutation_p.P16R	p.P372R	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	9	1115	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	360					Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	c.1115C>G	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.564181	0.45694	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112	T;T;T	0.05081	3.5;3.5;3.5	5.31	3.39	0.38822	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.336030	0.05934	U	0.635709	T	0.13798	0.0334	L	0.55481	1.735	0.31587	N	0.654386	P;P	0.42078	0.77;0.728	P;B	0.47470	0.548;0.413	T	0.11916	-1.0568	10	0.66056	D	0.02	.	9.7296	0.40352	0.0745:0.0:0.7855:0.1401	.	360;372	Q9NVE5;Q9NVE5-3	UBP40_HUMAN;.	R	372;360;360	ENSP00000415434:P372R;ENSP00000251722:P360R;ENSP00000387898:P360R	ENSP00000251722:P360R	P	-	2	0	USP40	234114135	1.000000	0.71417	0.952000	0.39060	0.980000	0.70556	2.988000	0.49386	1.373000	0.46208	0.561000	0.74099	CCT		PASS	0.378	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		23	213	23	213	---	---	---	---
UGT1A1	54658	broad.mit.edu	37	2	234526712	234526712	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr2:234526712T>G	ENST00000373450.4	+	1	422	c.359T>G	c.(358-360)tTt>tGt	p.F120C		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	123					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)	p.F120C(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	TTTAACTTATTTTTTTCGCAT	0.368																																						uc002vup.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(358-360)TTT>TGT		UDP glycosyltransferase 1 family, polypeptide A8							112.0	120.0	118.0					2																	234526712		2203	4300	6503	SO:0001583	missense	54576				drug metabolic process|fatty acid metabolic process|flavone metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme inhibitor activity|fatty acid binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|steroid binding	g.chr2:234526712T>G	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.359T>G	2.37:g.234526712T>G	ENSP00000362549:p.Phe120Cys					UGT1A8_uc010zmv.1_Missense_Mutation_p.F120C	p.F120C	NM_019076	NP_061949	Q9HAW9	UD18_HUMAN		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	422	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	120					A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000373450.4	37	c.359T>G	CCDS33402.1	.	.	.	.	.	.	.	.	.	.	T	5.313	0.243143	0.10077	.	.	ENSG00000242366	ENST00000373450	T	0.62639	0.01	3.96	1.25	0.21368	.	.	.	.	.	T	0.46425	0.1392	L	0.33485	1.01	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.005	T	0.31530	-0.9940	9	0.35671	T	0.21	.	6.018	0.19613	0.0:0.0853:0.3118:0.6029	.	120;120	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	C	120	ENSP00000362549:F120C	ENSP00000362549:F120C	F	+	2	0	UGT1A8	234191451	0.001000	0.12720	0.000000	0.03702	0.017000	0.09413	0.331000	0.19733	0.147000	0.19030	0.414000	0.27820	TTT		PASS	0.368	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			5	334	5	334	---	---	---	---
CNTN4	152330	broad.mit.edu	37	3	2787353	2787353	+	Silent	SNP	T	T	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr3:2787353T>C	ENST00000397461.1	+	5	714	c.330T>C	c.(328-330)gtT>gtC	p.V110V	CNTN4_ENST00000427331.1_Silent_p.V110V|CNTN4_ENST00000418658.1_Silent_p.V110V	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	110	Ig-like C2-type 1.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.V110V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GAACAATTGTTAGCAGAGAAG	0.388																																						uc003bpc.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(328-330)GTT>GTC		contactin 4 isoform a precursor							138.0	129.0	132.0					3																	2787353		1942	4135	6077	SO:0001819	synonymous_variant	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2787353T>C	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.330T>C	3.37:g.2787353T>C						CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Silent_p.V110V	p.V110V	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	5	551	+		Ovarian(110;0.156)	110			Ig-like C2-type 1.		B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	c.330T>C	CCDS43041.1																																																																																				PASS	0.388	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			3	128	3	128	---	---	---	---
ARPP21	10777	broad.mit.edu	37	3	35835264	35835264	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr3:35835264G>T	ENST00000187397.4	+	20	2709	c.2253G>T	c.(2251-2253)caG>caT	p.Q751H	ARPP21_ENST00000337271.5_Missense_Mutation_p.Q732H|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000458225.1_Missense_Mutation_p.Q752H|ARPP21_ENST00000444190.1_Missense_Mutation_p.Q732H|ARPP21_ENST00000417925.1_Missense_Mutation_p.Q752H	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	751	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.Q751Q(1)|p.Q751H(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TACCTAACCAGGCAGGTCAAG	0.537																																						uc003cgb.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.Q751Q(1)	ovary(1)|lung(1)	ovary(2)|skin(1)	3						c.(2251-2253)CAG>CAT		cyclic AMP-regulated phosphoprotein, 21 kD							121.0	112.0	115.0					3																	35835264		2203	4300	6503	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35835264G>T	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.2253G>T	3.37:g.35835264G>T	ENSP00000187397:p.Gln751His					ARPP21_uc003cga.2_Missense_Mutation_p.Q732H|ARPP21_uc011axy.1_Missense_Mutation_p.Q752H|ARPP21_uc003cgf.2_Missense_Mutation_p.Q587H|ARPP21_uc003cgg.2_Missense_Mutation_p.Q274H	p.Q751H	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN			20	2517	+			751			Gln-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.2253G>T	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417442	0.62622	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.62364	0.12;0.03;0.03;0.41;0.12	6.03	5.14	0.70334	.	0.000000	0.64402	D	0.000004	T	0.76062	0.3935	M	0.74881	2.28	0.40739	D	0.982811	D;D;D;D	0.76494	0.998;0.998;0.997;0.999	D;D;D;D	0.85130	0.996;0.996;0.99;0.997	T	0.78876	-0.2031	10	0.87932	D	0	-11.6828	8.6456	0.34003	0.1003:0.1524:0.7473:0.0	.	752;274;751;732	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	H	752;732;732;751;752	ENSP00000414351:Q752H;ENSP00000337792:Q732H;ENSP00000405276:Q732H;ENSP00000187397:Q751H;ENSP00000412326:Q752H	ENSP00000187397:Q751H	Q	+	3	2	ARPP21	35810268	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.824000	0.55723	1.511000	0.48818	0.655000	0.94253	CAG		PASS	0.537	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		16	48	16	48	---	---	---	---
APEH	327	broad.mit.edu	37	3	49723522	49723522	+	IGR	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr3:49723522G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000449682.2_Missense_Mutation_p.R374C|MST1_ENST00000494828.2_5'Flank|MST1_ENST00000383728.3_3'UTR|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.R360C(2)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCTGTACAACGCCGGATCTGG	0.697																																						uc003cxg.2																			2	Substitution - Missense(2)		lung(1)|central_nervous_system(1)	lung(1)	1						c.(1120-1122)CGT>TGT		macrophage stimulating 1 (hepatocyte growth							12.0	14.0	13.0					3																	49723522		2191	4284	6475	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723522G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723522G>A						MST1_uc011bcs.1_Silent_p.G412G|MST1_uc010hkx.2_3'UTR|MST1_uc011bct.1_3'UTR	p.R374C	NM_020998	NP_066278	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1192	-			360			Kringle 3.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1120C>T	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037157	0.93630	.	.	ENSG00000173531	ENST00000449682	T	0.68181	-0.31	5.4	4.52	0.55395	.	0.000000	0.42682	D	0.000669	D	0.83078	0.5176	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.83214	-0.0072	10	0.32370	T	0.25	.	13.2202	0.59883	0.0778:0.0:0.9222:0.0	.	374	G3XAK1	.	C	374	ENSP00000414287:R374C	ENSP00000414287:R374C	R	-	1	0	MST1	49698526	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	8.008000	0.88588	2.526000	0.85167	0.655000	0.94253	CGT		PASS	0.697	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			3	25	3	25	---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52662986	52662986	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr3:52662986A>G	ENST00000296302.7	-	12	1368	c.1367T>C	c.(1366-1368)tTt>tCt	p.F456S	PBRM1_ENST00000394830.3_Missense_Mutation_p.F456S|PBRM1_ENST00000337303.4_Missense_Mutation_p.F456S|PBRM1_ENST00000356770.4_Missense_Mutation_p.F424S|PBRM1_ENST00000409114.3_Missense_Mutation_p.F456S|PBRM1_ENST00000409767.1_Missense_Mutation_p.F456S|PBRM1_ENST00000410007.1_Missense_Mutation_p.F456S|PBRM1_ENST00000409057.1_Missense_Mutation_p.F456S			Q86U86	PB1_HUMAN	polybromo 1	456	Bromo 3. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.F456S(2)|p.F424S(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GGCATTTTCAAACATTAAATT	0.338			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	uc003des.2				Rec	yes		3	3p21	55193	Mis|N|F|S|D|O	polybromo 1			E			clear cell renal carcinoma|breast		3	Substitution - Missense(3)		lung(3)	kidney(136)|breast(4)	140						c.(1366-1368)TTT>TCT		polybromo 1 isoform 4							103.0	93.0	97.0					3																	52662986		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52662986A>G	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1367T>C	3.37:g.52662986A>G	ENSP00000296302:p.Phe456Ser					PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.F456S|PBRM1_uc003der.2_Missense_Mutation_p.F424S|PBRM1_uc003det.2_Missense_Mutation_p.F456S|PBRM1_uc003deu.2_Missense_Mutation_p.F456S|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.F456S|PBRM1_uc010hmk.1_Missense_Mutation_p.F456S|PBRM1_uc003dey.2_Missense_Mutation_p.F456S|PBRM1_uc003dez.1_Missense_Mutation_p.F456S|PBRM1_uc003dfb.1_Missense_Mutation_p.F354S	p.F456S	NM_181042	NP_060635	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	12	1379	-			456			Bromo 3.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.1367T>C		.	.	.	.	.	.	.	.	.	.	A	23.2	4.387191	0.82902	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17	5.27	4.11	0.48088	Bromodomain (6);Bromodomain, conserved site (1);	0.114376	0.64402	N	0.000010	T	0.65523	0.2699	M	0.91872	3.25	0.50813	D	0.999894	D;D;D;D;B;D;D;D;D	0.89917	0.992;0.999;0.998;0.999;0.117;1.0;1.0;1.0;0.999	P;D;P;P;B;D;D;D;P	0.83275	0.724;0.963;0.88;0.833;0.017;0.979;0.996;0.919;0.866	T	0.71182	-0.4668	10	0.87932	D	0	-0.8544	11.0681	0.47987	0.9267:0.0:0.0733:0.0	.	456;456;456;456;456;456;456;424;456	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	S	424;456;456;456;456;456;456;456;456;400	ENSP00000349213:F424S;ENSP00000378307:F456S;ENSP00000296302:F456S;ENSP00000338302:F456S;ENSP00000386593:F456S;ENSP00000386529:F456S;ENSP00000386643:F456S;ENSP00000386601:F456S;ENSP00000387775:F456S;ENSP00000397662:F400S	ENSP00000296302:F456S	F	-	2	0	PBRM1	52638026	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.962000	0.93254	0.845000	0.35118	0.383000	0.25322	TTT		PASS	0.338	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		30	75	30	75	---	---	---	---
SPATA12	353324	broad.mit.edu	37	3	57107973	57107973	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr3:57107973G>C	ENST00000334325.1	+	2	926	c.251G>C	c.(250-252)aGa>aCa	p.R84T	ARHGEF3_ENST00000338458.4_Intron	NM_181727.1	NP_859078.1	Q7Z6I5	SPT12_HUMAN	spermatogenesis associated 12	84								p.R84T(1)		large_intestine(2)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)		ACCTGTCAGAGATATTTACAA	0.532																																						uc003dij.1																			1	Substitution - Missense(1)		lung(1)		0						c.(250-252)AGA>ACA		spermatogenesis associated 12							88.0	90.0	89.0					3																	57107973		2203	4300	6503	SO:0001583	missense	353324							g.chr3:57107973G>C	AY221117	CCDS2879.1	3p21.2	2012-09-19			ENSG00000186451	ENSG00000186451			23221	protein-coding gene	gene with protein product		609869				22981541, 17251597	Standard	NM_181727		Approved		uc003dij.1	Q7Z6I5	OTTHUMG00000158862	ENST00000334325.1:c.251G>C	3.37:g.57107973G>C	ENSP00000335392:p.Arg84Thr					ARHGEF3_uc003dih.2_Intron	p.R84T	NM_181727	NP_859078	Q7Z6I5	SPT12_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)	2	926	+			84					A0AVA8|B2RMW1	Missense_Mutation	SNP	ENST00000334325.1	37	c.251G>C	CCDS2879.1	.	.	.	.	.	.	.	.	.	.	G	9.758	1.169261	0.21621	.	.	ENSG00000186451	ENST00000334325	.	.	.	2.62	1.74	0.24563	.	.	.	.	.	T	0.16896	0.0406	N	0.08118	0	0.09310	N	1	P	0.50819	0.939	P	0.45276	0.475	T	0.08066	-1.0740	8	0.87932	D	0	.	5.2497	0.15515	0.1617:0.0:0.8383:0.0	.	84	Q7Z6I5	SPT12_HUMAN	T	84	.	ENSP00000335392:R84T	R	+	2	0	SPATA12	57083013	0.000000	0.05858	0.001000	0.08648	0.324000	0.28378	0.071000	0.14594	0.661000	0.30985	0.563000	0.77884	AGA		PASS	0.532	SPATA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352457.2	NM_181727		16	121	16	121	---	---	---	---
MYH15	22989	broad.mit.edu	37	3	108147662	108147662	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr3:108147662C>T	ENST00000273353.3	-	28	3495	c.3439G>A	c.(3439-3441)Gag>Aag	p.E1147K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1147						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E1147K(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCAGCTCTCTCCCTTTCCATC	0.443																																						uc003dxa.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(2)	7						c.(3439-3441)GAG>AAG		myosin, heavy polypeptide 15							149.0	140.0	142.0					3																	108147662		1924	4142	6066	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108147662C>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.3439G>A	3.37:g.108147662C>T	ENSP00000273353:p.Glu1147Lys						p.E1147K	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			28	3496	-			1147			Potential.			Missense_Mutation	SNP	ENST00000273353.3	37	c.3439G>A	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.411465	0.62399	.	.	ENSG00000144821	ENST00000273353	T	0.78126	-1.15	5.51	3.5	0.40072	Myosin tail (1);	.	.	.	.	T	0.77405	0.4125	M	0.64404	1.975	0.40700	D	0.982475	B	0.33528	0.416	B	0.42959	0.403	T	0.77981	-0.2383	9	0.59425	D	0.04	.	8.023	0.30421	0.0:0.5219:0.3758:0.1024	.	1147	Q9Y2K3	MYH15_HUMAN	K	1147	ENSP00000273353:E1147K	ENSP00000273353:E1147K	E	-	1	0	MYH15	109630352	1.000000	0.71417	0.097000	0.21041	0.446000	0.32137	4.989000	0.63870	1.395000	0.46643	0.650000	0.86243	GAG		PASS	0.443	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		69	203	69	203	---	---	---	---
TRAT1	50852	broad.mit.edu	37	3	108572722	108572722	+	Nonstop_Mutation	SNP	T	T	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr3:108572722T>C	ENST00000295756.6	+	6	789	c.559T>C	c.(559-561)Tag>Cag	p.*187Q	TRAT1_ENST00000426646.1_Nonstop_Mutation_p.*150Q	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	0					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.*187Q(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						ACCTATAAACTAGCTGGACCA	0.448																																						uc003dxi.1																			1	Nonstop extension(1)		lung(1)	skin(1)	1						c.(559-561)TAG>CAG		T-cell receptor interacting molecule							105.0	109.0	108.0					3																	108572722		2201	4300	6501	SO:0001578	stop_lost	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108572722T>C	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.559T>C	3.37:g.108572722T>C	ENSP00000295756:p.*187Glnext*8					TRAT1_uc010hpx.1_Nonstop_Mutation_p.*150Q	p.*187Q	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN			6	703	+			187					Q9NZX5	Nonstop_Mutation	SNP	ENST00000295756.6	37	c.559T>C	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	T	5.803	0.332430	0.10956	.	.	ENSG00000163519	ENST00000295756;ENST00000426646	.	.	.	5.85	0.247	0.15521	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.2409	0.01963	0.1458:0.1676:0.151:0.5357	.	.	.	.	Q	187;150	.	.	X	+	1	0	TRAT1	110055412	0.000000	0.05858	0.002000	0.10522	0.047000	0.14425	-0.069000	0.11542	0.493000	0.27837	0.533000	0.62120	TAG		PASS	0.448	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388		67	222	67	222	---	---	---	---
DPPA2	151871	broad.mit.edu	37	3	109023503	109023503	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr3:109023503C>G	ENST00000478945.1	-	7	919	c.673G>C	c.(673-675)Gtg>Ctg	p.V225L		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	225					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)	p.V225L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCATGGACCACACACCACCTG	0.502																																						uc003dxo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(673-675)GTG>CTG		developmental pluripotency associated 2							65.0	61.0	62.0					3																	109023503		2203	4300	6503	SO:0001583	missense	151871					nucleus	nucleic acid binding	g.chr3:109023503C>G	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.673G>C	3.37:g.109023503C>G	ENSP00000417710:p.Val225Leu						p.V225L	NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN			7	920	-			225					Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	c.673G>C	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.097181	0.37048	.	.	ENSG00000163530	ENST00000478945	T	0.58210	0.35	5.2	3.41	0.39046	.	0.163511	0.29438	N	0.012148	T	0.67306	0.2879	M	0.74881	2.28	0.28070	N	0.932622	D	0.76494	0.999	D	0.74674	0.984	T	0.60865	-0.7178	10	0.72032	D	0.01	-19.2708	7.7314	0.28789	0.0:0.812:0.0:0.188	.	225	Q7Z7J5	DPPA2_HUMAN	L	225	ENSP00000417710:V225L	ENSP00000417710:V225L	V	-	1	0	DPPA2	110506193	1.000000	0.71417	0.998000	0.56505	0.129000	0.20672	3.118000	0.50414	0.772000	0.33382	-0.266000	0.10368	GTG		PASS	0.502	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		11	102	11	102	---	---	---	---
ATP6V1A	523	broad.mit.edu	37	3	113524309	113524309	+	Silent	SNP	A	A	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr3:113524309A>G	ENST00000273398.3	+	14	1806	c.1698A>G	c.(1696-1698)acA>acG	p.T566T	ATP6V1A_ENST00000538620.1_Silent_p.T533T|ATP6V1A_ENST00000461496.1_3'UTR	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	566					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)|transferrin transport (GO:0033572)|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)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.T566T(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	ATAAAATCACATGGTCCATTA	0.383																																						uc003eao.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1696-1698)ACA>ACG		ATPase, H+ transporting, lysosomal V1 subunit A							129.0	118.0	122.0					3																	113524309		2203	4300	6503	SO:0001819	synonymous_variant	523				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr3:113524309A>G	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.1698A>G	3.37:g.113524309A>G						ATP6V1A_uc011bik.1_Silent_p.T533T	p.T566T	NM_001690	NP_001681	P38606	VATA_HUMAN			14	1764	+			566					B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Silent	SNP	ENST00000273398.3	37	c.1698A>G	CCDS2976.1																																																																																				PASS	0.383	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		52	135	52	135	---	---	---	---
C3orf30	152405	broad.mit.edu	37	3	118865717	118865717	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr3:118865717C>A	ENST00000295622.1	+	1	721	c.681C>A	c.(679-681)gaC>gaA	p.D227E	IGSF11_ENST00000441144.2_5'Flank|IGSF11_ENST00000354673.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank|IGSF11_ENST00000425327.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	227								p.D227E(2)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		TGCAGATTGACAGTGGGTCAT	0.493																																						uc003ecb.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(679-681)GAC>GAA		hypothetical protein LOC152405							95.0	97.0	96.0					3																	118865717		2203	4300	6503	SO:0001583	missense	152405							g.chr3:118865717C>A	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.681C>A	3.37:g.118865717C>A	ENSP00000295622:p.Asp227Glu					IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.D227E	p.D227E	NM_152539	NP_689752	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	1	721	+			227					A1L4B7	Missense_Mutation	SNP	ENST00000295622.1	37	c.681C>A	CCDS2984.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.34|10.34	1.322120|1.322120	0.23994|0.23994	.|.	.|.	ENSG00000163424|ENSG00000163424	ENST00000295622;ENST00000470341|ENST00000460150;ENST00000473121	T|.	0.26660|.	1.72|.	2.58|2.58	-0.365|-0.365	0.12549|0.12549	.|.	1.686210|.	0.03299|.	N|.	0.188719|.	T|T	0.33789|0.33789	0.0875|0.0875	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	1|1	D;D|.	0.71674|.	0.998;0.99|.	D;D|.	0.72625|.	0.937;0.978|.	T|T	0.29941|0.29941	-0.9995|-0.9995	10|5	0.11485|.	T|.	0.65|.	-1.9804|-1.9804	3.4737|3.4737	0.07577|0.07577	0.0:0.4077:0.2011:0.3912|0.0:0.4077:0.2011:0.3912	.|.	227;227|.	E9PFE5;Q96M34|.	.;CC030_HUMAN|.	E|K	227|191;20	ENSP00000295622:D227E|.	ENSP00000295622:D227E|.	D|Q	+|+	3|1	2|0	C3orf30|C3orf30	120348407|120348407	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	-2.342000|-2.342000	0.01099|0.01099	-0.121000|-0.121000	0.11787|0.11787	-0.474000|-0.474000	0.04947|0.04947	GAC|CAG		PASS	0.493	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		51	144	51	144	---	---	---	---
PLXNA1	5361	broad.mit.edu	37	3	126749164	126749164	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr3:126749164G>A	ENST00000393409.2	+	28	5140	c.5140G>A	c.(5140-5142)Gcc>Acc	p.A1714T	PLXNA1_ENST00000251772.4_Missense_Mutation_p.A1691T	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1714					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.A1691T(1)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCTGCCGCTGGCCATCAAGTA	0.602																																						uc003ejg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(5071-5073)GCC>ACC		plexin A1							125.0	114.0	118.0					3																	126749164		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126749164G>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.5140G>A	3.37:g.126749164G>A	ENSP00000377061:p.Ala1714Thr					PLXNA1_uc003ejh.2_Missense_Mutation_p.A359T	p.A1691T	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	28	5075	+			1714			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000393409.2	37	c.5071G>A	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941069	0.92526	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.16196	2.36;2.36	3.39	3.39	0.38822	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.078417	0.49305	D	0.000142	T	0.37999	0.1024	M	0.69523	2.12	0.80722	D	1	B;D	0.56035	0.319;0.974	B;P	0.62014	0.314;0.897	T	0.42865	-0.9426	10	0.87932	D	0	.	15.2982	0.73925	0.0:0.0:1.0:0.0	.	328;1714	Q6ZTY7;Q9UIW2	.;PLXA1_HUMAN	T	1714;1691	ENSP00000377061:A1714T;ENSP00000251772:A1691T	ENSP00000251772:A1691T	A	+	1	0	PLXNA1	128231854	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	9.411000	0.97342	1.885000	0.54596	0.313000	0.20887	GCC		PASS	0.602	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		20	120	20	120	---	---	---	---
RHO	6010	broad.mit.edu	37	3	129247867	129247867	+	Silent	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr3:129247867C>A	ENST00000296271.3	+	1	385	c.291C>A	c.(289-291)acC>acA	p.T97T		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	97					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|protein phosphorylation (GO:0006468)|protein-chromophore linkage (GO:0018298)|red, far-red light phototransduction (GO:0009585)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|retinoid metabolic process (GO:0001523)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cell-cell junction (GO:0005911)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor inner segment membrane (GO:0060342)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|rough endoplasmic reticulum membrane (GO:0030867)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)|photoreceptor activity (GO:0009881)|retinal binding (GO:0016918)	p.T97T(1)		breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	CCCTCTACACCTCTCTGCATG	0.587																																					Esophageal Squamous(118;214 1623 30842 43234 46940)	uc003emt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(289-291)ACC>ACA		rhodopsin	Halothane(DB01159)						177.0	149.0	158.0					3																	129247867		2203	4300	6503	SO:0001819	synonymous_variant	6010				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding	g.chr3:129247867C>A	AB065668	CCDS3063.1	3q21-q24	2014-01-28	2008-04-16		ENSG00000163914	ENSG00000163914		"""GPCR / Class A : Opsin receptors"""	10012	protein-coding gene	gene with protein product	"""opsin 2, rod pigment"""	180380	"""retinitis pigmentosa 4, autosomal dominant"""	RP4		2016091	Standard	NM_000539		Approved	OPN2, CSNBAD1	uc003emt.3	P08100	OTTHUMG00000159542	ENST00000296271.3:c.291C>A	3.37:g.129247867C>A							p.T97T	NM_000539	NP_000530	P08100	OPSD_HUMAN		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	1	386	+		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)	97			Helical; Name=2; (Potential).		Q16414|Q2M249	Silent	SNP	ENST00000296271.3	37	c.291C>A	CCDS3063.1																																																																																				PASS	0.587	RHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356101.1	NM_000539		50	182	50	182	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130290018	130290018	+	Missense_Mutation	SNP	G	G	A	rs567427258		TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr3:130290018G>A	ENST00000358511.6	+	6	2789	c.2758G>A	c.(2758-2760)Gat>Aat	p.D920N	COL6A6_ENST00000453409.2_Missense_Mutation_p.D920N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	920	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.D920N(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						TGTGATCACCGATGGGGAATC	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		18006	0.0		0.0	False		,,,				2504	0.001					uc010htl.2																			2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(2758-2760)GAT>AAT		collagen type VI alpha 6 precursor							59.0	59.0	59.0					3																	130290018		1924	4128	6052	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130290018G>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.2758G>A	3.37:g.130290018G>A	ENSP00000351310:p.Asp920Asn						p.D920N	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			6	2789	+			920			VWFA 5.|Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.2758G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002877	0.93287	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.92149	-2.98;-2.98	4.92	4.92	0.64577	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000012	D	0.95968	0.8687	M	0.78049	2.395	0.54753	D	0.999982	D	0.89917	1.0	D	0.97110	1.0	D	0.95984	0.8980	10	0.54805	T	0.06	.	18.0758	0.89426	0.0:0.0:1.0:0.0	.	920	A6NMZ7	CO6A6_HUMAN	N	920	ENSP00000351310:D920N;ENSP00000399236:D920N	ENSP00000351310:D920N	D	+	1	0	COL6A6	131772708	1.000000	0.71417	0.960000	0.40013	0.915000	0.54546	9.369000	0.97156	2.460000	0.83146	0.561000	0.74099	GAT		PASS	0.557	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		21	83	21	83	---	---	---	---
PRR23B	389151	broad.mit.edu	37	3	138738890	138738890	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr3:138738890C>A	ENST00000329447.5	-	1	878	c.614G>T	c.(613-615)aGt>aTt	p.S205I	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	205	Pro-rich.							p.S205I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCTCTCTGAACTGGGGTTGGG	0.622																																						uc003esy.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(613-615)AGT>ATT		proline rich 23B							39.0	45.0	43.0					3																	138738890		2203	4300	6503	SO:0001583	missense	389151							g.chr3:138738890C>A	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.614G>T	3.37:g.138738890C>A	ENSP00000328768:p.Ser205Ile						p.S205I	NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN			1	879	-			205			Pro-rich.		B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	c.614G>T	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123200	0.37436	.	.	ENSG00000184814	ENST00000329447	.	.	.	2.92	2.0	0.26442	.	1.184750	0.06337	N	0.707339	T	0.60038	0.2238	M	0.66939	2.045	0.09310	N	1	D	0.67145	0.996	D	0.67382	0.951	T	0.38824	-0.9643	9	0.72032	D	0.01	.	7.7004	0.28619	0.0:0.7376:0.2624:0.0	.	205	Q6ZRT6	PR23B_HUMAN	I	205	.	ENSP00000328768:S205I	S	-	2	0	PRR23B	140221580	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.294000	0.19047	0.779000	0.33543	0.563000	0.77884	AGT		PASS	0.622	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		9	87	9	87	---	---	---	---
TNIK	23043	broad.mit.edu	37	3	170784011	170784011	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr3:170784011G>C	ENST00000436636.2	-	32	4308	c.3964C>G	c.(3964-3966)Caa>Gaa	p.Q1322E	TNIK_ENST00000341852.6_Missense_Mutation_p.Q1238E|TNIK_ENST00000538048.1_Missense_Mutation_p.Q1274E|TNIK_ENST00000470834.1_Missense_Mutation_p.Q1285E|TNIK_ENST00000460047.1_Missense_Mutation_p.Q1259E|TNIK_ENST00000475336.1_Missense_Mutation_p.Q1230E|TNIK_ENST00000464785.1_5'Flank|TNIK_ENST00000369326.5_Missense_Mutation_p.Q1300E|TNIK_ENST00000488470.1_Missense_Mutation_p.Q1267E|TNIK_ENST00000284483.8_Missense_Mutation_p.Q1314E|TNIK_ENST00000357327.5_Missense_Mutation_p.Q1293E	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1322	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.Q1322E(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTTAACCTTTGAGCTCGCTTA	0.398																																						uc003fhh.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(1)	5						c.(3964-3966)CAA>GAA		TRAF2 and NCK interacting kinase isoform 1							144.0	142.0	143.0					3																	170784011		1875	4117	5992	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170784011G>C	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3964C>G	3.37:g.170784011G>C	ENSP00000399511:p.Gln1322Glu					TNIK_uc003fhi.2_Missense_Mutation_p.Q1267E|TNIK_uc003fhj.2_Missense_Mutation_p.Q1293E|TNIK_uc003fhk.2_Missense_Mutation_p.Q1314E|TNIK_uc003fhl.2_Missense_Mutation_p.Q1238E|TNIK_uc003fhm.2_Missense_Mutation_p.Q1259E|TNIK_uc003fhn.2_Missense_Mutation_p.Q1285E|TNIK_uc003fho.2_Missense_Mutation_p.Q1230E|TNIK_uc003fhg.2_Missense_Mutation_p.Q500E	p.Q1322E	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		32	4309	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		1322			CNH.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.3964C>G	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286419	0.80803	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.04654	3.58;3.58;3.58;3.58;3.58;3.58;3.58;3.58;3.58;3.58	5.87	5.87	0.94306	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.26593	0.0650	M	0.83603	2.65	0.80722	D	1	P;D;P;P;D;D;P;D	0.76494	0.811;0.998;0.917;0.811;0.999;0.998;0.917;0.998	P;P;P;P;D;P;P;D	0.70227	0.83;0.882;0.878;0.83;0.96;0.882;0.878;0.968	T	0.00221	-1.1905	10	0.87932	D	0	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1230;1285;1259;1238;1314;1293;1267;1322	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	E	1322;1300;1274;1238;1314;1230;1293;1259;1267;1285	ENSP00000399511:Q1322E;ENSP00000358332:Q1300E;ENSP00000443278:Q1274E;ENSP00000345352:Q1238E;ENSP00000284483:Q1314E;ENSP00000418156:Q1230E;ENSP00000349880:Q1293E;ENSP00000418916:Q1259E;ENSP00000418378:Q1267E;ENSP00000419990:Q1285E	ENSP00000284483:Q1314E	Q	-	1	0	TNIK	172266705	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	CAA		PASS	0.398	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		18	141	18	141	---	---	---	---
MCCC1	56922	broad.mit.edu	37	3	182733285	182733285	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr3:182733285T>C	ENST00000265594.4	-	19	2265	c.2119A>G	c.(2119-2121)Aga>Gga	p.R707G	MCCC1-AS1_ENST00000471731.2_RNA|MCCC1_ENST00000492597.1_Missense_Mutation_p.R598G	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	707	Biotinyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)	p.R707G(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	GGAGTGTGTCTGTTGGCCTGA	0.443																																						uc003fle.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2119-2121)AGA>GGA		methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	Biotin(DB00121)						331.0	308.0	316.0					3																	182733285		2203	4300	6503	SO:0001583	missense	56922				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	g.chr3:182733285T>C	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.2119A>G	3.37:g.182733285T>C	ENSP00000265594:p.Arg707Gly					MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Missense_Mutation_p.R590G|MCCC1_uc003flg.2_Missense_Mutation_p.R598G	p.R707G	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		19	2256	-	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		707			Biotinyl-binding.		Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	37	c.2119A>G	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	T	16.03	3.008110	0.54361	.	.	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616	T;T	0.56776	0.44;0.44	5.42	2.8	0.32819	Single hybrid motif (1);Biotin/lipoyl attachment (2);	0.000000	0.85682	D	0.000000	T	0.46288	0.1385	N	0.05306	-0.075	0.80722	D	1	D;D	0.76494	0.999;0.976	D;D	0.68765	0.96;0.933	T	0.39251	-0.9623	10	0.27785	T	0.31	.	11.0107	0.47661	0.0:0.0:0.2955:0.7045	.	598;707	E9PHF7;Q96RQ3	.;MCCA_HUMAN	G	707;598;557	ENSP00000265594:R707G;ENSP00000419898:R598G	ENSP00000265594:R707G	R	-	1	2	MCCC1	184215979	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.431000	0.34925	0.837000	0.34925	0.418000	0.28097	AGA		PASS	0.443	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166		97	408	97	408	---	---	---	---
TMEM175	84286	broad.mit.edu	37	4	941927	941927	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr4:941927G>T	ENST00000264771.4	+	3	362	c.177G>T	c.(175-177)gaG>gaT	p.E59D	TMEM175_ENST00000508204.1_Intron|TMEM175_ENST00000515740.1_Intron	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	59						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.E59D(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCCACACGGAGATCTCCCCAG	0.607																																						uc003gbq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(175-177)GAG>GAT		transmembrane protein 175							225.0	183.0	197.0					4																	941927		2203	4300	6503	SO:0001583	missense	84286					integral to membrane		g.chr4:941927G>T	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.177G>T	4.37:g.941927G>T	ENSP00000264771:p.Glu59Asp					TMEM175_uc010ibl.1_Missense_Mutation_p.E59D|TMEM175_uc003gbp.1_5'UTR|TMEM175_uc003gbr.2_5'UTR|TMEM175_uc003gbu.2_Intron|TMEM175_uc003gbs.2_5'UTR|TMEM175_uc003gbt.2_5'UTR|TMEM175_uc003gbv.2_Intron	p.E59D	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		3	275	+			59					D3DVN4|Q8ND13	Missense_Mutation	SNP	ENST00000264771.4	37	c.177G>T	CCDS3341.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414152	0.62511	.	.	ENSG00000127419	ENST00000507319;ENST00000264771;ENST00000514546	T;T;T	0.42131	0.98;0.98;0.98	5.07	1.88	0.25563	.	0.211539	0.38436	N	0.001700	T	0.33206	0.0855	L	0.29908	0.895	0.80722	D	1	P	0.47484	0.896	P	0.48952	0.596	T	0.04454	-1.0950	10	0.39692	T	0.17	-20.2572	5.5362	0.17013	0.2084:0.1706:0.6211:0.0	.	59	Q9BSA9	TM175_HUMAN	D	59	ENSP00000424746:E59D;ENSP00000264771:E59D;ENSP00000425763:E59D	ENSP00000264771:E59D	E	+	3	2	TMEM175	931927	1.000000	0.71417	0.990000	0.47175	0.990000	0.78478	1.422000	0.34826	0.537000	0.28751	0.650000	0.86243	GAG		PASS	0.607	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		10	105	10	105	---	---	---	---
FGFRL1	53834	broad.mit.edu	37	4	1019001	1019001	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr4:1019001G>T	ENST00000398484.2	+	8	1961	c.1381G>T	c.(1381-1383)Ggc>Tgc	p.G461C	RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000504138.1_Missense_Mutation_p.G461C|FGFRL1_ENST00000264748.6_Missense_Mutation_p.G461C|FGFRL1_ENST00000510644.1_Missense_Mutation_p.G461C			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	461					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.G461C(1)|p.?(1)		endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCACTTACTGGGCCCAGGCCC	0.622																																						uc003gce.2																			2	Substitution - Missense(1)|Unknown(1)		lung(2)		0						c.(1381-1383)GGC>TGC		fibroblast growth factor receptor-like 1							14.0	16.0	15.0					4																	1019001		2189	4296	6485	SO:0001583	missense	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1019001G>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.1381G>T	4.37:g.1019001G>T	ENSP00000381498:p.Gly461Cys					FGFRL1_uc003gcf.2_Missense_Mutation_p.G461C|FGFRL1_uc003gcg.2_Missense_Mutation_p.G461C|FGFRL1_uc010ibo.2_Missense_Mutation_p.G461C	p.G461C	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	1542	+			461			Cytoplasmic (Potential).		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	ENST00000398484.2	37	c.1381G>T	CCDS3344.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681233	0.47886	.	.	ENSG00000127418	ENST00000398484;ENST00000510644;ENST00000504138;ENST00000264748	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	4.38	3.46	0.39613	.	0.504022	0.17953	N	0.156427	T	0.65270	0.2675	L	0.38175	1.15	0.24625	N	0.993652	P	0.51933	0.949	P	0.49887	0.625	T	0.56829	-0.7914	10	0.46703	T	0.11	-20.331	8.6587	0.34079	0.0:0.1515:0.6707:0.1778	.	461	Q8N441	FGRL1_HUMAN	C	461	ENSP00000381498:G461C;ENSP00000425025:G461C;ENSP00000423091:G461C;ENSP00000264748:G461C	ENSP00000264748:G461C	G	+	1	0	FGFRL1	1009001	1.000000	0.71417	0.997000	0.53966	0.581000	0.36288	2.504000	0.45416	2.001000	0.58596	0.655000	0.94253	GGC		PASS	0.622	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		8	18	8	18	---	---	---	---
NSG1	27065	broad.mit.edu	37	4	4419139	4419139	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr4:4419139G>A	ENST00000421177.2	+	9	2526	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	NSG1_ENST00000433139.2_Missense_Mutation_p.E179K|NSG1_ENST00000505246.1_Missense_Mutation_p.E179K|NSG1_ENST00000504171.1_Missense_Mutation_p.E140K|NSG1_ENST00000506380.1_Missense_Mutation_p.E179K|STX18_ENST00000505286.1_Intron|NSG1_ENST00000397958.1_Missense_Mutation_p.E179K|NSG1_ENST00000513555.1_Missense_Mutation_p.E179K			P42857	NSG1_HUMAN		179					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.E179K(1)									GCAGGAGACTGAAGCGGCTGA	0.478																																						uc011bvz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(535-537)GAA>AAA		brain neuron cytoplasmic protein 1							91.0	89.0	90.0					4																	4419139		2203	4300	6503	SO:0001583	missense	27065				dopamine receptor signaling pathway	Golgi membrane|integral to membrane|nucleus	dopamine receptor binding	g.chr4:4419139G>A																												ENST00000421177.2:c.535G>A	4.37:g.4419139G>A	ENSP00000388823:p.Glu179Lys					D4S234E_uc011bwa.1_Missense_Mutation_p.E140K|D4S234E_uc003ghz.2_Missense_Mutation_p.E179K|D4S234E_uc003gia.2_Missense_Mutation_p.E179K|D4S234E_uc003gib.2_Missense_Mutation_p.E179K	p.E179K	NM_014392	NP_055207	P42857	NSG1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.166)	8	1816	+			179			Lumenal (Potential).		B4DXC5|Q49AQ1	Missense_Mutation	SNP	ENST00000421177.2	37	c.535G>A	CCDS3376.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791184	0.90367	.	.	ENSG00000168824	ENST00000421177;ENST00000513555;ENST00000505246;ENST00000506380;ENST00000397958;ENST00000433139;ENST00000504171	.	.	.	4.64	4.64	0.57946	.	0.063541	0.64402	D	0.000009	T	0.73202	0.3557	L	0.47716	1.5	0.80722	D	1	D;D	0.69078	0.979;0.997	D;D	0.77004	0.982;0.989	T	0.71636	-0.4533	9	0.33141	T	0.24	-22.0783	17.5367	0.87834	0.0:0.0:1.0:0.0	.	140;179	B4DXC5;P42857	.;NSG1_HUMAN	K	179;179;179;179;179;179;140	.	ENSP00000381049:E179K	E	+	1	0	AC110814.1	4470040	1.000000	0.71417	0.267000	0.24556	0.980000	0.70556	8.517000	0.90555	2.131000	0.65755	0.561000	0.74099	GAA		PASS	0.478	NSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246799.1			14	118	14	118	---	---	---	---
SH3TC1	54436	broad.mit.edu	37	4	8229143	8229143	+	Silent	SNP	C	C	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr4:8229143C>G	ENST00000245105.3	+	12	1789	c.1722C>G	c.(1720-1722)ctC>ctG	p.L574L	SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000539824.1_Silent_p.L498L	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	574								p.L574L(1)		NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GCAGGAGGCTCAAGCTGTCCC	0.692																																					NSCLC(145;2298 2623 35616 37297)	uc003gkv.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|pancreas(1)	3						c.(1720-1722)CTC>CTG		SH3 domain and tetratricopeptide repeats 1							36.0	42.0	40.0					4																	8229143		2169	4229	6398	SO:0001819	synonymous_variant	54436						binding	g.chr4:8229143C>G	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.1722C>G	4.37:g.8229143C>G						SH3TC1_uc003gkw.3_Silent_p.L498L|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank	p.L574L	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN			12	1823	+			574			TPR 1.		Q4W5G5	Silent	SNP	ENST00000245105.3	37	c.1722C>G	CCDS3399.1																																																																																				PASS	0.692	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		3	120	3	120	---	---	---	---
WDR19	57728	broad.mit.edu	37	4	39274621	39274621	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr4:39274621C>G	ENST00000399820.3	+	32	3659	c.3505C>G	c.(3505-3507)Cac>Gac	p.H1169D	WDR19_ENST00000288634.7_Missense_Mutation_p.H1009D	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1169					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)		p.H1169D(1)		large_intestine(1)	1						AAATGGAGATCACATGAAAGG	0.423																																						uc003gtv.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(3505-3507)CAC>GAC		WD repeat domain 19							60.0	62.0	61.0					4																	39274621		2001	4160	6161	SO:0001583	missense	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39274621C>G	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.3505C>G	4.37:g.39274621C>G	ENSP00000382717:p.His1169Asp					WDR19_uc011byi.1_Missense_Mutation_p.H1009D|WDR19_uc003gtw.1_Missense_Mutation_p.H766D	p.H1169D	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN			32	3659	+			1169					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	ENST00000399820.3	37	c.3505C>G	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.900106	0.92035	.	.	ENSG00000157796	ENST00000399820;ENST00000288634	T;T	0.67698	-0.27;-0.28	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.79924	0.4530	M	0.81802	2.56	0.80722	D	1	D	0.53312	0.959	P	0.54346	0.749	T	0.82172	-0.0589	10	0.62326	D	0.03	-18.5791	19.4754	0.94985	0.0:1.0:0.0:0.0	.	1169	Q8NEZ3	WDR19_HUMAN	D	1169;1009	ENSP00000382717:H1169D;ENSP00000288634:H1009D	ENSP00000288634:H1009D	H	+	1	0	WDR19	38951016	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.594000	0.82698	2.597000	0.87782	0.563000	0.77884	CAC		PASS	0.423	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			4	15	4	15	---	---	---	---
GRXCR1	389207	broad.mit.edu	37	4	42895560	42895560	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr4:42895560G>C	ENST00000399770.2	+	1	277	c.277G>C	c.(277-279)Ggt>Cgt	p.G93R	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	93					auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)	p.G93R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GAAGGGTTTTGGTACAAGAAG	0.448																																						uc003gwt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(277-279)GGT>CGT		glutaredoxin, cysteine rich 1							127.0	132.0	131.0					4																	42895560		2001	4175	6176	SO:0001583	missense	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:42895560G>C		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.277G>C	4.37:g.42895560G>C	ENSP00000382670:p.Gly93Arg						p.G93R	NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN			1	277	+			93						Missense_Mutation	SNP	ENST00000399770.2	37	c.277G>C	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.301303	0.23650	.	.	ENSG00000215203	ENST00000399770	T	0.35605	1.3	5.87	4.98	0.66077	.	0.313340	0.30584	U	0.009304	T	0.29716	0.0742	L	0.36672	1.1	0.37160	D	0.902566	P	0.41041	0.736	B	0.39465	0.3	T	0.12016	-1.0564	10	0.19147	T	0.46	-34.5673	15.5988	0.76609	0.0:0.1376:0.8624:0.0	.	93	A8MXD5	GRCR1_HUMAN	R	93	ENSP00000382670:G93R	ENSP00000382670:G93R	G	+	1	0	GRXCR1	42590317	1.000000	0.71417	0.998000	0.56505	0.307000	0.27823	2.724000	0.47285	2.785000	0.95823	0.650000	0.86243	GGT		PASS	0.448	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		27	159	27	159	---	---	---	---
TMPRSS11D	9407	broad.mit.edu	37	4	68704024	68704024	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr4:68704024G>T	ENST00000283916.6	-	5	439	c.341C>A	c.(340-342)gCg>gAg	p.A114E	TMPRSS11D_ENST00000545541.1_5'UTR|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_5'UTR	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	114	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.A114E(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GACAACATCCGCTCTCACACC	0.313																																						uc003hdq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(340-342)GCG>GAG		transmembrane protease, serine 11D							91.0	85.0	87.0					4																	68704024		2203	4300	6503	SO:0001583	missense	9407				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68704024G>T	AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"""Serine peptidases / Transmembrane"""	24059	protein-coding gene	gene with protein product	"""airway trypsin like protease"""	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.341C>A	4.37:g.68704024G>T	ENSP00000283916:p.Ala114Glu					LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc011caj.1_5'UTR	p.A114E	NM_004262	NP_004253	O60235	TM11D_HUMAN			5	406	-			114			SEA.|Extracellular (Potential).		Q08AF6	Missense_Mutation	SNP	ENST00000283916.6	37	c.341C>A	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.226243	0.58668	.	.	ENSG00000153802	ENST00000283916	T	0.45668	0.89	5.16	4.31	0.51392	SEA (3);	0.000000	0.53938	D	0.000058	T	0.65512	0.2698	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70185	-0.4941	10	0.66056	D	0.02	.	12.1398	0.53993	0.0:0.1724:0.8276:0.0	.	114	O60235	TM11D_HUMAN	E	114	ENSP00000283916:A114E	ENSP00000283916:A114E	A	-	2	0	TMPRSS11D	68386619	0.998000	0.40836	0.990000	0.47175	0.527000	0.34593	2.067000	0.41461	1.294000	0.44707	0.655000	0.94253	GCG		PASS	0.313	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		26	87	26	87	---	---	---	---
PF4	5196	broad.mit.edu	37	4	74846927	74846927	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr4:74846927C>G	ENST00000296029.3	-	3	470	c.300G>C	c.(298-300)gaG>gaC	p.E100D		NM_002619.3	NP_002610.1	P02776	PLF4_HUMAN	platelet factor 4	100					blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|leukocyte chemotaxis (GO:0030595)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cytolysis (GO:0045918)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of MHC class II biosynthetic process (GO:0045347)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|heparin binding (GO:0008201)	p.E100D(1)		kidney(1)|lung(1)	2	Breast(15;0.00136)		all cancers(17;0.0034)|Lung(101;0.196)		Drotrecogin alfa(DB00055)	GTAGCTAACTCTCCAAAAGTT	0.398																																						uc003hhi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(298-300)GAG>GAC		platelet factor 4 (chemokine (C-X-C motif)	Drotrecogin alfa(DB00055)						79.0	83.0	81.0					4																	74846927		2203	4300	6503	SO:0001583	missense	5196				cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|negative regulation of MHC class II biosynthetic process|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production	extracellular space|platelet alpha granule lumen	chemokine activity|heparin binding	g.chr4:74846927C>G	M25897	CCDS3562.1	4q12-q21	2012-10-02	2008-08-29		ENSG00000163737	ENSG00000163737			8861	protein-coding gene	gene with protein product	"""chemokine (C-X-C motif) ligand 4"""	173460	"""platelet factor 4"""			3622011	Standard	NM_002619		Approved	SCYB4, CXCL4	uc003hhi.3	P02776	OTTHUMG00000130009	ENST00000296029.3:c.300G>C	4.37:g.74846927C>G	ENSP00000296029:p.Glu100Asp						p.E100D	NM_002619	NP_002610	P02776	PLF4_HUMAN	all cancers(17;0.0034)|Lung(101;0.196)		3	345	-	Breast(15;0.00136)		100					Q53X61|Q9UC64|Q9UC65	Missense_Mutation	SNP	ENST00000296029.3	37	c.300G>C	CCDS3562.1	.	.	.	.	.	.	.	.	.	.	C	6.256	0.415403	0.11870	.	.	ENSG00000163737	ENST00000296029	.	.	.	2.48	-0.464	0.12160	Chemokine interleukin-8-like domain (1);	0.689769	0.14583	N	0.310752	T	0.18341	0.0440	N	0.17674	0.51	0.09310	N	1	D	0.57257	0.979	P	0.47528	0.549	T	0.18147	-1.0346	9	0.20046	T	0.44	.	4.8939	0.13740	0.0:0.4691:0.0:0.5309	.	100	P02776	PLF4_HUMAN	D	100	.	ENSP00000296029:E100D	E	-	3	2	PF4	75065791	0.000000	0.05858	0.000000	0.03702	0.161000	0.22273	-0.063000	0.11655	-0.020000	0.14032	0.305000	0.20034	GAG		PASS	0.398	PF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252282.1			11	64	11	64	---	---	---	---
CCDC158	339965	broad.mit.edu	37	4	77305543	77305544	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr4:77305543_77305544CC>AT	ENST00000388914.3	-	5	575_576	c.423_424GG>AT	c.(421-426)gaGGat>gaATat	p.D142Y	CCDC158_ENST00000434846.2_Missense_Mutation_p.D142Y	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	142								p.D142Y(2)|p.E141E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TTTCTTAAATCCTCCTGGGACT	0.351																																						uc003hkb.3																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	skin(3)|ovary(2)|pancreas(1)	6						c.(424-426)GAT>TAT|c.(421-423)GAG>GAA		coiled-coil domain containing 158																																				SO:0001583	missense	339965							g.chr4:77305543C>A|g.chr4:77305544C>T	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.423_424delinsAT	4.37:g.77305543_77305544delinsAT	ENSP00000373566:p.Asp142Tyr					CCDC158_uc003hkd.2_Missense_Mutation_p.D142Y|CCDC158_uc003hkd.2_Silent_p.E141E	p.D142Y|p.E141E	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN			5	577|576	-			142|141			Potential.		Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation|Silent	SNP	ENST00000388914.3	37	c.424G>T|c.423G>A	CCDS43242.1																																																																																				PASS	0.351	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		32|31	135|132	31	132	---	---	---	---
THAP9	79725	broad.mit.edu	37	4	83839905	83839905	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr4:83839905G>C	ENST00000302236.5	+	5	2591	c.2540G>C	c.(2539-2541)aGa>aCa	p.R847T	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	847					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)	p.R847T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				TTAAATATCAGAGCTAAAAAT	0.323																																						uc003hnt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	5						c.(2539-2541)AGA>ACA		THAP domain containing 9							42.0	44.0	44.0					4																	83839905		2202	4297	6499	SO:0001583	missense	79725						DNA binding|metal ion binding	g.chr4:83839905G>C	AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.2540G>C	4.37:g.83839905G>C	ENSP00000305533:p.Arg847Thr					THAP9_uc003hns.1_Missense_Mutation_p.R703T|THAP9_uc003hnu.1_RNA|THAP9_uc003hnv.2_Missense_Mutation_p.R564T	p.R847T	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN			5	2659	+		Hepatocellular(203;0.114)	847					B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	c.2540G>C	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.904547	0.33628	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.93307	-3.2	4.21	4.21	0.49690	.	0.170506	0.28284	N	0.015912	D	0.90058	0.6895	L	0.40543	1.245	0.80722	D	1	B	0.30793	0.295	B	0.31614	0.133	D	0.90055	0.4152	10	0.87932	D	0	-12.4202	14.8858	0.70567	0.0:0.0:1.0:0.0	.	847	Q9H5L6	THAP9_HUMAN	T	847	ENSP00000305533:R847T	ENSP00000305533:R847T	R	+	2	0	THAP9	84058929	0.908000	0.30866	0.177000	0.23020	0.460000	0.32559	1.661000	0.37408	2.620000	0.88729	0.557000	0.71058	AGA		PASS	0.323	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		13	136	13	136	---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85638146	85638146	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr4:85638146C>G	ENST00000295888.4	-	49	8185	c.7778G>C	c.(7777-7779)aGa>aCa	p.R2593T	WDFY3_ENST00000322366.6_Missense_Mutation_p.R2576T	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2593	Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.R2593T(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CCTGGCTCCTCTAGGAATAAT	0.418																																						uc003hpd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(7777-7779)AGA>ACA		WD repeat and FYVE domain containing 3 isoform							105.0	107.0	106.0					4																	85638146		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85638146C>G	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.7778G>C	4.37:g.85638146C>G	ENSP00000295888:p.Arg2593Thr					WDFY3_uc003hpe.1_Missense_Mutation_p.R204T	p.R2593T	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	49	8186	-		Hepatocellular(203;0.114)	2593					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.7778G>C	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	1.724	-0.495984	0.04291	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.62941	-0.0;-0.01;0.01	5.21	4.36	0.52297	PH-BEACH domain (1);	0.054242	0.64402	D	0.000002	T	0.53351	0.1791	L	0.50333	1.59	0.50039	D	0.999846	B	0.28820	0.224	B	0.24701	0.055	T	0.48725	-0.9010	10	0.17369	T	0.5	.	13.7977	0.63182	0.0:0.9254:0.0:0.0746	.	2593	Q8IZQ1	WDFY3_HUMAN	T	2576;2593;196	ENSP00000318466:R2576T;ENSP00000295888:R2593T;ENSP00000424987:R196T	ENSP00000295888:R2593T	R	-	2	0	WDFY3	85857170	1.000000	0.71417	0.920000	0.36463	0.350000	0.29205	5.675000	0.68123	1.318000	0.45170	0.650000	0.86243	AGA		PASS	0.418	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		41	175	41	175	---	---	---	---
HERC5	51191	broad.mit.edu	37	4	89400577	89400577	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr4:89400577C>A	ENST00000264350.3	+	13	1809	c.1656C>A	c.(1654-1656)tgC>tgA	p.C552*	HERC5_ENST00000508159.1_Nonsense_Mutation_p.C190*	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	552					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.C552*(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		CCGTCATATGCCAGTTGGATT	0.418																																					Esophageal Squamous(39;887 1012 34045 50514)	uc003hrt.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|lung(3)|skin(2)	9						c.(1654-1656)TGC>TGA		hect domain and RLD 5							119.0	116.0	117.0					4																	89400577		2203	4300	6503	SO:0001587	stop_gained	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89400577C>A	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.1656C>A	4.37:g.89400577C>A	ENSP00000264350:p.Cys552*					HERC5_uc011cdm.1_Nonsense_Mutation_p.C190*	p.C552*	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	13	1809	+		Hepatocellular(203;0.114)	552					B2RTQ1|Q69G20	Nonsense_Mutation	SNP	ENST00000264350.3	37	c.1656C>A	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	C	32	5.119692	0.94385	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	.	.	.	4.82	-4.8	0.03190	.	0.747332	0.11830	N	0.525346	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	1.1299	0.01743	0.1415:0.2712:0.2904:0.2969	.	.	.	.	X	552;190	.	ENSP00000264350:C552X	C	+	3	2	HERC5	89619600	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.633000	0.05483	-1.025000	0.03334	-0.482000	0.04802	TGC		PASS	0.418	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		36	121	36	121	---	---	---	---
HERC5	51191	broad.mit.edu	37	4	89427028	89427028	+	Nonstop_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr4:89427028G>T	ENST00000264350.3	+	23	3227	c.3074G>T	c.(3073-3075)tGa>tTa	p.*1025L	HERC5_ENST00000508159.1_Nonstop_Mutation_p.*663L	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	0					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.*1025L(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GGATTTGGCTGACCAGCTTgc	0.393																																					Esophageal Squamous(39;887 1012 34045 50514)	uc003hrt.2																			1	Nonstop extension(1)		lung(1)	ovary(4)|lung(3)|skin(2)	9						c.(3073-3075)TGA>TTA		hect domain and RLD 5							54.0	54.0	54.0					4																	89427028		2203	4300	6503	SO:0001578	stop_lost	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89427028G>T	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.3074G>T	4.37:g.89427028G>T	ENSP00000264350:p.*1025Leuext*30					HERC5_uc011cdm.1_Nonstop_Mutation_p.*663L	p.*1025L	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	23	3227	+		Hepatocellular(203;0.114)	1025					B2RTQ1|Q69G20	Nonstop_Mutation	SNP	ENST00000264350.3	37	c.3074G>T	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383444	0.42207	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	.	.	.	3.47	1.73	0.24493	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9756	0.19377	0.2169:0.0:0.7831:0.0	.	.	.	.	L	1025;663	.	.	X	+	2	2	HERC5	89646051	0.675000	0.27558	0.971000	0.41717	0.942000	0.58702	0.672000	0.25187	0.470000	0.27294	0.591000	0.81541	TGA		PASS	0.393	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		9	29	9	29	---	---	---	---
GRID2	2895	broad.mit.edu	37	4	94690534	94690534	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr4:94690534C>G	ENST00000282020.4	+	15	2792	c.2534C>G	c.(2533-2535)tCc>tGc	p.S845C	GRID2_ENST00000510992.1_Missense_Mutation_p.S750C	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	845					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.S845C(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		ATTGTCCTCTCCTGCTTCATA	0.498																																						uc011cdt.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)	6						c.(2533-2535)TCC>TGC		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						102.0	111.0	108.0					4																	94690534		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94690534C>G	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2534C>G	4.37:g.94690534C>G	ENSP00000282020:p.Ser845Cys					GRID2_uc011cdu.1_Missense_Mutation_p.S750C	p.S845C	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	15	2792	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	845			Helical; (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.2534C>G	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675544	0.88445	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.17691	2.28;2.26	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.25232	0.0613	N	0.14661	0.345	0.80722	D	1	D;D	0.61080	0.989;0.989	P;P	0.61328	0.887;0.887	T	0.14811	-1.0459	10	0.87932	D	0	.	18.7248	0.91710	0.0:1.0:0.0:0.0	.	750;845	E9PH24;O43424	.;GRID2_HUMAN	C	845;750	ENSP00000282020:S845C;ENSP00000421257:S750C	ENSP00000282020:S845C	S	+	2	0	GRID2	94909557	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.456000	0.80751	2.420000	0.82092	0.655000	0.94253	TCC		PASS	0.498	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			9	123	9	123	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114120187	114120187	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr4:114120187C>G	ENST00000357077.4	+	4	359	c.306C>G	c.(304-306)caC>caG	p.H102Q	ANK2_ENST00000506722.1_Missense_Mutation_p.H81Q|ANK2_ENST00000264366.6_Missense_Mutation_p.H102Q|ANK2_ENST00000394537.3_Missense_Mutation_p.H102Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	102					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.H102Q(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCGCTCTTCACATTGCATCTT	0.373																																						uc003ibe.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(304-306)CAC>CAG		ankyrin 2 isoform 1							126.0	125.0	125.0					4																	114120187		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114120187C>G	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.306C>G	4.37:g.114120187C>G	ENSP00000349588:p.His102Gln					ANK2_uc003ibd.3_Missense_Mutation_p.H81Q|ANK2_uc003ibf.3_Missense_Mutation_p.H102Q|ANK2_uc003ibc.2_Missense_Mutation_p.H78Q|ANK2_uc011cgb.1_Missense_Mutation_p.H117Q	p.H102Q	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	4	406	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	102			ANK 3.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.306C>G	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.583686	0.65992	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000508613;ENST00000343056	T;T;T;T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.54	5.82	4.09	0.47781	Ankyrin repeat-containing domain (3);	0.000000	0.53938	D	0.000051	D	0.83257	0.5215	M	0.85197	2.74	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.99	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.998;0.988	D	0.84679	0.0716	10	0.87932	D	0	.	8.9152	0.35576	0.0:0.776:0.0:0.224	.	102;102;102;81;81	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	Q	81;81;81;117;102;102;102;117;81	ENSP00000423799:H81Q;ENSP00000421011:H81Q;ENSP00000421067:H81Q;ENSP00000424722:H117Q;ENSP00000378044:H102Q;ENSP00000349588:H102Q;ENSP00000264366:H102Q;ENSP00000422900:H117Q	ENSP00000264366:H102Q	H	+	3	2	ANK2	114339636	0.964000	0.33143	1.000000	0.80357	0.892000	0.51952	0.121000	0.15667	1.469000	0.48083	0.650000	0.86243	CAC		PASS	0.373	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		26	107	26	107	---	---	---	---
NDST4	64579	broad.mit.edu	37	4	115858639	115858639	+	Missense_Mutation	SNP	G	G	C	rs139847624	byFrequency	TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr4:115858639G>C	ENST00000264363.2	-	5	1920	c.1242C>G	c.(1240-1242)aaC>aaG	p.N414K		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	414	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.N414K(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CATAGCCCATGTTGATTGGTA	0.448																																						uc003ibu.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(1240-1242)AAC>AAG		heparan sulfate N-deacetylase/N-sulfotransferase							109.0	92.0	97.0					4																	115858639		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115858639G>C	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1242C>G	4.37:g.115858639G>C	ENSP00000264363:p.Asn414Lys					NDST4_uc010imw.2_RNA	p.N414K	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	5	1921	-		Ovarian(17;0.156)	414			Lumenal (Potential).|Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1242C>G	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.902898	0.72754	.	.	ENSG00000138653	ENST00000264363	T	0.35421	1.31	5.47	5.47	0.80525	.	0.313066	0.39544	N	0.001331	T	0.39200	0.1069	L	0.50333	1.59	0.58432	D	0.999997	B	0.15719	0.014	B	0.16722	0.016	T	0.20107	-1.0285	10	0.66056	D	0.02	.	19.6922	0.96007	0.0:0.0:1.0:0.0	.	414	Q9H3R1	NDST4_HUMAN	K	414	ENSP00000264363:N414K	ENSP00000264363:N414K	N	-	3	2	NDST4	116078088	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	4.810000	0.62598	2.704000	0.92352	0.655000	0.94253	AAC		PASS	0.448	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		27	87	27	87	---	---	---	---
MYOZ2	51778	broad.mit.edu	37	4	120107146	120107146	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr4:120107146G>T	ENST00000307128.5	+	6	799	c.586G>T	c.(586-588)Gaa>Taa	p.E196*		NM_016599.4	NP_057683.1			myozenin 2									p.E196*(1)		endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						TGGAGGTTTTGAAAAAGCATC	0.323																																						uc003icp.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(586-588)GAA>TAA		myozenin 2							75.0	78.0	77.0					4																	120107146		2203	4300	6503	SO:0001587	stop_gained	51778						protein phosphatase 2B binding	g.chr4:120107146G>T	AF249873	CCDS3711.1	4q26-q27	2014-09-17	2002-01-07	2002-01-11	ENSG00000172399	ENSG00000172399			1330	protein-coding gene	gene with protein product		605602	"""chromosome 4 open reading frame 5"""	C4orf5		8619474, 9110174	Standard	NM_016599		Approved	CS-1	uc003icp.4	Q9NPC6	OTTHUMG00000132968	ENST00000307128.5:c.586G>T	4.37:g.120107146G>T	ENSP00000306997:p.Glu196*						p.E196*	NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN			6	799	+			196						Nonsense_Mutation	SNP	ENST00000307128.5	37	c.586G>T	CCDS3711.1	.	.	.	.	.	.	.	.	.	.	G	37	6.320689	0.97471	.	.	ENSG00000172399	ENST00000307128	.	.	.	5.72	5.72	0.89469	.	0.135014	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-24.8934	19.8639	0.96797	0.0:0.0:1.0:0.0	.	.	.	.	X	196	.	ENSP00000306997:E196X	E	+	1	0	MYOZ2	120326594	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.113000	0.89568	2.690000	0.91761	0.650000	0.86243	GAA		PASS	0.323	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256526.2			52	131	52	131	---	---	---	---
TNIP3	79931	broad.mit.edu	37	4	122068292	122068292	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr4:122068292G>A	ENST00000509841.1	-	10	956	c.878C>T	c.(877-879)tCg>tTg	p.S293L	TNIP3_ENST00000507879.1_Missense_Mutation_p.S286L|TNIP3_ENST00000057513.3_Missense_Mutation_p.S216L|TNIP3_ENST00000454328.1_Missense_Mutation_p.S216L|TNIP3_ENST00000511909.1_5'UTR	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3									p.S216L(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CTCTCGATCCGATCGTTCCTT	0.378																																						uc010ing.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(646-648)TCG>TTG		TNFAIP3 interacting protein 3							204.0	196.0	199.0					4																	122068292		2203	4300	6503	SO:0001583	missense	79931							g.chr4:122068292G>A	AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.878C>T	4.37:g.122068292G>A	ENSP00000426613:p.Ser293Leu					TNIP3_uc010inh.2_Missense_Mutation_p.S216L|TNIP3_uc011cgj.1_Missense_Mutation_p.S274L	p.S216L	NM_024873	NP_079149	Q96KP6	TNIP3_HUMAN			7	843	-			216			Potential.			Missense_Mutation	SNP	ENST00000509841.1	37	c.647C>T	CCDS58926.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534363	0.85812	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	D;D;D;D	0.95853	-3.83;-3.83;-3.83;-3.83	5.4	5.4	0.78164	.	0.227300	0.30630	N	0.009213	D	0.97576	0.9206	M	0.79926	2.475	0.34334	D	0.688003	D;D	0.76494	0.999;0.998	D;P	0.63793	0.918;0.878	D	0.99968	1.1917	10	0.87932	D	0	-4.1885	19.1702	0.93574	0.0:0.0:1.0:0.0	.	286;216	B4DVF5;Q96KP6	.;TNIP3_HUMAN	L	216;216;286;293	ENSP00000057513:S216L;ENSP00000411817:S216L;ENSP00000427106:S286L;ENSP00000426613:S293L	ENSP00000057513:S216L	S	-	2	0	TNIP3	122287742	0.997000	0.39634	0.974000	0.42286	0.982000	0.71751	1.751000	0.38339	2.539000	0.85634	0.563000	0.77884	TCG		PASS	0.378	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873		28	223	28	223	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126240599	126240599	+	Silent	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr4:126240599G>T	ENST00000394329.3	+	1	3046	c.3033G>T	c.(3031-3033)gtG>gtT	p.V1011V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1011	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V1011V(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGAACCTGTGAATTCTCGAT	0.388																																						uc003ifj.3																			2	Substitution - coding silent(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(3031-3033)GTG>GTT		FAT tumor suppressor homolog 4 precursor							105.0	99.0	101.0					4																	126240599		1869	4105	5974	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126240599G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3033G>T	4.37:g.126240599G>T							p.V1011V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	3033	+			1011			Cadherin 10.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.3033G>T	CCDS3732.3																																																																																				PASS	0.388	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		73	246	73	246	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134072210	134072210	+	Silent	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr4:134072210G>T	ENST00000264360.5	+	1	1741	c.915G>T	c.(913-915)ccG>ccT	p.P305P	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	305	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P305P(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GACTCTCGCCGCGCACTGGCA	0.637																																						uc003iha.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(913-915)CCG>CCT		protocadherin 10 isoform 1 precursor							47.0	48.0	48.0					4																	134072210		2203	4300	6503	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072210G>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.915G>T	4.37:g.134072210G>T						uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.P305P	p.P305P	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1741	+			305			Cadherin 3.|Extracellular (Potential).		Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.915G>T	CCDS34063.1																																																																																				PASS	0.637	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		24	75	24	75	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134084205	134084205	+	Silent	SNP	T	T	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr4:134084205T>C	ENST00000264360.5	+	4	3697	c.2871T>C	c.(2869-2871)tcT>tcC	p.S957S		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	957					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S957S(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGATGCCTTCTTTTGTCCCTT	0.493																																						uc003iha.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2869-2871)TCT>TCC		protocadherin 10 isoform 1 precursor							176.0	149.0	158.0					4																	134084205		2203	4300	6503	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134084205T>C	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2871T>C	4.37:g.134084205T>C							p.S957S	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	4	3697	+			957			Cytoplasmic (Potential).		Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.2871T>C	CCDS34063.1																																																																																				PASS	0.493	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		33	148	33	148	---	---	---	---
FGB	2244	broad.mit.edu	37	4	155488788	155488788	+	Missense_Mutation	SNP	G	G	T	rs201909029	byFrequency	TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr4:155488788G>T	ENST00000302068.4	+	4	597	c.534G>T	c.(532-534)aaG>aaT	p.K178N	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_5'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	178					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.K178N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AACTGGAAAAGCACCAATTAT	0.333																																					NSCLC(106;1133 1613 21870 46110 52656)	uc003ioa.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3	GRCh37	CM035562	FGB	M		c.(532-534)AAG>AAT		fibrinogen, beta chain preproprotein	Sucralfate(DB00364)						90.0	88.0	89.0					4																	155488788		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.chr4:155488788G>T		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.534G>T	4.37:g.155488788G>T	ENSP00000306099:p.Lys178Asn					FGB_uc003iob.3_Missense_Mutation_p.K175N|FGB_uc010ipv.2_Missense_Mutation_p.K116N|FGB_uc010ipw.2_Missense_Mutation_p.K175N|FGB_uc003ioc.3_5'UTR	p.K178N	NM_005141	NP_005132	P02675	FIBB_HUMAN			4	573	+	all_hematologic(180;0.215)	Renal(120;0.0458)	178			Potential.		A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	c.534G>T	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812923	0.32053	.	.	ENSG00000171564	ENST00000302068;ENST00000537843	D	0.82984	-1.67	5.77	-0.814	0.10846	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (2);	1.105940	0.06507	N	0.737409	T	0.72930	0.3522	L	0.46157	1.445	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.59705	-0.7404	10	0.25751	T	0.34	.	2.1819	0.03877	0.1301:0.2485:0.3135:0.3079	.	161;178	B4E1D3;P02675	.;FIBB_HUMAN	N	178;161	ENSP00000306099:K178N	ENSP00000306099:K178N	K	+	3	2	FGB	155708238	0.999000	0.42202	0.410000	0.26471	0.798000	0.45092	0.454000	0.21827	-0.103000	0.12175	0.655000	0.94253	AAG		PASS	0.333	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		29	171	29	171	---	---	---	---
GRIA2	2891	broad.mit.edu	37	4	158284166	158284166	+	Silent	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr4:158284166C>T	ENST00000264426.9	+	15	2901	c.2622C>T	c.(2620-2622)aaC>aaT	p.N874N	GRIA2_ENST00000449365.1_Silent_p.N827N|AC079233.1_ENST00000578227.1_RNA|GRIA2_ENST00000296526.7_Silent_p.N874N|GRIA2_ENST00000393815.2_Silent_p.N827N|GRIA2_ENST00000507898.1_Silent_p.N827N	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	874					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.N874N(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AAGGTTACAACGTATATGGCA	0.408																																						uc003ipm.3																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(3)|ovary(1)	4						c.(2620-2622)AAC>AAT		glutamate receptor, ionotropic, AMPA 2 isoform 2	L-Glutamic Acid(DB00142)						133.0	126.0	128.0					4																	158284166		2203	4300	6503	SO:0001819	synonymous_variant	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158284166C>T		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.2622C>T	4.37:g.158284166C>T						GRIA2_uc011cit.1_Silent_p.N827N|GRIA2_uc003ipl.3_Silent_p.N874N|GRIA2_uc003ipk.3_Silent_p.N827N|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_RNA	p.N874N	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	15	3081	+	all_hematologic(180;0.24)	Renal(120;0.0458)	874			Cytoplasmic (Potential).		A8MT92|I6L997|Q96FP6	Silent	SNP	ENST00000264426.9	37	c.2622C>T	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	C	2.604	-0.292301	0.05568	.	.	ENSG00000120251	ENST00000510854	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	T	0.77391	0.4123	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73773	-0.3877	4	.	.	.	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	.	.	.	C	205	.	.	R	+	1	0	GRIA2	158503616	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.026000	0.70873	2.894000	0.99253	0.591000	0.81541	CGT		PASS	0.408	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			65	261	65	261	---	---	---	---
NAF1	92345	broad.mit.edu	37	4	164050477	164050477	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr4:164050477G>C	ENST00000274054.2	-	8	1250	c.1057C>G	c.(1057-1059)Cag>Gag	p.Q353E	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	353					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Q353E(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TTCCAATTCTGATGTACTTCA	0.368																																						uc003iqj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1057-1059)CAG>GAG		nuclear assembly factor 1 homolog isoform a							61.0	65.0	64.0					4																	164050477		2203	4300	6503	SO:0001583	missense	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164050477G>C		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1057C>G	4.37:g.164050477G>C	ENSP00000274054:p.Gln353Glu					NAF1_uc010iqw.1_Intron	p.Q353E	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN			8	1251	-	all_hematologic(180;0.166)	Prostate(90;0.109)	353					D3DP28|E9PAZ2	Missense_Mutation	SNP	ENST00000274054.2	37	c.1057C>G	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.318376	0.23994	.	.	ENSG00000145414	ENST00000274054	T	0.39592	1.07	4.71	3.86	0.44501	.	0.379459	0.23881	N	0.043650	T	0.23886	0.0578	N	0.19112	0.55	0.27803	N	0.942427	B	0.12013	0.005	B	0.08055	0.003	T	0.16453	-1.0402	10	0.02654	T	1	-7.9398	12.9047	0.58145	0.0:0.1634:0.8366:0.0	.	353	Q96HR8	NAF1_HUMAN	E	353	ENSP00000274054:Q353E	ENSP00000274054:Q353E	Q	-	1	0	NAF1	164269927	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	2.199000	0.42715	1.267000	0.44247	0.591000	0.81541	CAG		PASS	0.368	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		14	99	14	99	---	---	---	---
DDX60	55601	broad.mit.edu	37	4	169197313	169197313	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr4:169197313T>A	ENST00000393743.3	-	15	2289	c.1998A>T	c.(1996-1998)ttA>ttT	p.L666F		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	666					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)	p.L666F(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CAGCTATACTTAAATCTTTCG	0.318																																						uc003irp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1996-1998)TTA>TTT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							92.0	91.0	92.0					4																	169197313		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169197313T>A	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.1998A>T	4.37:g.169197313T>A	ENSP00000377344:p.Leu666Phe						p.L666F	NM_017631	NP_060101	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	15	2290	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	666					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.1998A>T	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	T	10.71	1.426226	0.25726	.	.	ENSG00000137628	ENST00000393743	T	0.20200	2.09	5.15	-2.16	0.07080	.	0.645432	0.13767	N	0.364128	T	0.14056	0.0340	L	0.49513	1.565	0.24037	N	0.9961	B	0.26318	0.146	B	0.25291	0.059	T	0.21895	-1.0232	10	0.40728	T	0.16	.	2.2341	0.04003	0.1145:0.1386:0.2363:0.5107	.	666	Q8IY21	DDX60_HUMAN	F	666	ENSP00000377344:L666F	ENSP00000377344:L666F	L	-	3	2	DDX60	169433888	0.441000	0.25626	0.162000	0.22713	0.823000	0.46562	-0.042000	0.12063	0.020000	0.15106	0.455000	0.32223	TTA		PASS	0.318	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		31	120	31	120	---	---	---	---
ADAMTS16	170690	broad.mit.edu	37	5	5200358	5200358	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr5:5200358G>A	ENST00000274181.7	+	9	1565	c.1427G>A	c.(1426-1428)cGc>cAc	p.R476H	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R476H	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	476	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R476H(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCCTGCAGCCGCCAGTATCTA	0.512																																						uc003jdl.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(1426-1428)CGC>CAC		ADAM metallopeptidase with thrombospondin type 1							82.0	90.0	87.0					5																	5200358		1943	4164	6107	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5200358G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1427G>A	5.37:g.5200358G>A	ENSP00000274181:p.Arg476His					ADAMTS16_uc003jdk.1_Missense_Mutation_p.R476H|ADAMTS16_uc003jdj.1_Missense_Mutation_p.R476H	p.R476H	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			9	1565	+			476			Peptidase M12B.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.1427G>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966184	0.92855	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.08720	3.06;3.06	4.76	4.76	0.60689	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.36138	0.0956	M	0.88512	2.96	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	T	0.42799	-0.9430	10	0.87932	D	0	.	16.926	0.86176	0.0:0.0:1.0:0.0	.	476;476;476	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	H	476	ENSP00000274181:R476H;ENSP00000421631:R476H	ENSP00000274181:R476H	R	+	2	0	ADAMTS16	5253358	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.196000	0.77805	2.347000	0.79759	0.655000	0.94253	CGC		PASS	0.512	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		32	90	32	90	---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11397307	11397307	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr5:11397307G>T	ENST00000304623.8	-	6	637	c.448C>A	c.(448-450)Ctg>Atg	p.L150M	CTNND2_ENST00000359640.2_Missense_Mutation_p.L150M|CTNND2_ENST00000511377.1_Missense_Mutation_p.L59M|CTNND2_ENST00000458100.2_De_novo_Start_OutOfFrame|CTNND2_ENST00000503622.1_Intron	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	150					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.L150M(1)		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						TGGGAGAGCAGGCTGGGCCCT	0.488																																						uc003jfa.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(448-450)CTG>ATG		catenin (cadherin-associated protein), delta 2							56.0	53.0	54.0					5																	11397307		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.chr5:11397307G>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.448C>A	5.37:g.11397307G>T	ENSP00000307134:p.Leu150Met					CTNND2_uc010itt.2_Missense_Mutation_p.L59M|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Translation_Start_Site|CTNND2_uc010itu.1_Intron	p.L150M	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			6	593	-			150					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.448C>A	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953624	0.73902	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000513598;ENST00000508761	T;T;T	0.78924	-1.15;-1.22;-1.2	5.91	5.91	0.95273	Armadillo-like helical (1);	0.183014	0.36972	N	0.002313	T	0.81847	0.4909	L	0.45581	1.43	0.80722	D	1	D	0.53619	0.961	P	0.52758	0.708	T	0.81228	-0.1028	10	0.51188	T	0.08	-11.7418	20.2983	0.98569	0.0:0.0:1.0:0.0	.	150	Q9UQB3	CTND2_HUMAN	M	150;150;59;59;136	ENSP00000307134:L150M;ENSP00000352661:L150M;ENSP00000426510:L59M	ENSP00000307134:L150M	L	-	1	2	CTNND2	11450307	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.045000	0.71020	2.802000	0.96397	0.655000	0.94253	CTG		PASS	0.488	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		21	71	21	71	---	---	---	---
ANKH	56172	broad.mit.edu	37	5	14871536	14871536	+	Silent	SNP	G	G	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr5:14871536G>C	ENST00000284268.6	-	1	351	c.21C>G	c.(19-21)ctC>ctG	p.L7L	CTB-40H15.4_ENST00000607026.1_lincRNA	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	7					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)	p.L7L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AGTAGTGCGTGAGCGCCGGGA	0.692																																						uc003jfm.3																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(19-21)CTC>CTG		progressive ankylosis protein							47.0	49.0	48.0					5																	14871536		2201	4300	6501	SO:0001819	synonymous_variant	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14871536G>C	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.21C>G	5.37:g.14871536G>C							p.L7L	NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN			1	352	-			7			Cytoplasmic (Potential).		B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Silent	SNP	ENST00000284268.6	37	c.21C>G	CCDS3885.1																																																																																				PASS	0.692	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		7	34	7	34	---	---	---	---
MYO10	4651	broad.mit.edu	37	5	16758264	16758264	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr5:16758264C>T	ENST00000513610.1	-	18	2265	c.1811G>A	c.(1810-1812)aGc>aAc	p.S604N		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	604	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.S604N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCGATGTTTGCTTCCACATTT	0.443																																						uc003jft.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1810-1812)AGC>AAC		myosin X							147.0	150.0	149.0					5																	16758264		1936	4159	6095	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16758264C>T	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.1811G>A	5.37:g.16758264C>T	ENSP00000421280:p.Ser604Asn					MYO10_uc010itx.2_Missense_Mutation_p.S227N	p.S604N	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN			18	2279	-			604			Myosin head-like.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.1811G>A	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.907288	0.52333	.	.	ENSG00000145555	ENST00000513610;ENST00000513882	D;D	0.87809	-2.3;-2.3	5.94	5.05	0.67936	Myosin head, motor domain (2);	.	.	.	.	T	0.81446	0.4824	L	0.39692	1.235	0.80722	D	1	B;B	0.13145	0.007;0.005	B;B	0.12156	0.007;0.006	T	0.76680	-0.2870	9	0.46703	T	0.11	.	10.3277	0.43803	0.0:0.7941:0.1362:0.0697	.	245;604	Q69YP8;Q9HD67	.;MYO10_HUMAN	N	604;615	ENSP00000421280:S604N;ENSP00000421309:S615N	ENSP00000421280:S604N	S	-	2	0	MYO10	16811264	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.506000	0.53364	1.470000	0.48102	0.591000	0.81541	AGC		PASS	0.443	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		39	109	39	109	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26915968	26915969	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr5:26915968_26915969CC>AG	ENST00000231021.4	-	3	464_465	c.292_293GG>CT	c.(292-294)GGc>CTc	p.G98L		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.G98R(1)|p.G98C(1)|p.G98L(1)|p.G98V(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AAATAGACTGCCAGCCCCATCT	0.361																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			4	Substitution - Missense(4)	p.G98C(1)	lung(3)|ovary(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(292-294)GGC>GTC|c.(292-294)GGC>CGC		cadherin 9, type 2 preproprotein																																				SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26915968C>A|g.chr5:26915969C>G	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.292_293delinsAG	5.37:g.26915968_26915969delinsAG	ENSP00000231021:p.Gly98Leu					CDH9_uc010iug.2_Missense_Mutation_p.G98V|CDH9_uc010iug.2_Missense_Mutation_p.G98R	p.G98V|p.G98R	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			3	462|461	-			98			Extracellular (Potential).|Cadherin 1.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.293G>T|c.292G>C	CCDS3893.1																																																																																				PASS	0.361	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		65|66	275	65	275	---	---	---	---
RXFP3	51289	broad.mit.edu	37	5	33937066	33937066	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr5:33937066C>T	ENST00000330120.3	+	1	576	c.221C>T	c.(220-222)gCg>gTg	p.A74V		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	74					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)	p.A74V(1)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GCAGAGAGCGCGGACACAGAG	0.692																																						uc003jic.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(220-222)GCG>GTG		relaxin/insulin-like family peptide receptor 3							41.0	51.0	47.0					5																	33937066		2201	4298	6499	SO:0001583	missense	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937066C>T	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.221C>T	5.37:g.33937066C>T	ENSP00000328708:p.Ala74Val						p.A74V	NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN			1	578	+			74			Extracellular (Potential).		Q14DA5	Missense_Mutation	SNP	ENST00000330120.3	37	c.221C>T	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	C	2.961	-0.214520	0.06101	.	.	ENSG00000182631	ENST00000330120	T	0.70282	-0.47	4.84	3.97	0.46021	.	0.612195	0.13548	N	0.379660	T	0.52435	0.1734	N	0.19112	0.55	0.09310	N	1	P	0.38535	0.635	B	0.23852	0.049	T	0.15694	-1.0428	10	0.31617	T	0.26	-4.2525	16.1488	0.81594	0.0:0.9263:0.0:0.0737	.	74	Q9NSD7	RL3R1_HUMAN	V	74	ENSP00000328708:A74V	ENSP00000328708:A74V	A	+	2	0	RXFP3	33972823	0.002000	0.14202	0.001000	0.08648	0.000000	0.00434	0.845000	0.27668	0.583000	0.29574	-0.797000	0.03246	GCG		PASS	0.692	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		13	83	13	83	---	---	---	---
RAI14	26064	broad.mit.edu	37	5	34818921	34818921	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr5:34818921G>A	ENST00000265109.3	+	13	1246	c.959G>A	c.(958-960)cGa>cAa	p.R320Q	RAI14_ENST00000515799.1_Missense_Mutation_p.R323Q|RAI14_ENST00000397449.1_Missense_Mutation_p.R313Q|RAI14_ENST00000512629.1_Missense_Mutation_p.R291Q|RAI14_ENST00000428746.2_Missense_Mutation_p.R320Q|RAI14_ENST00000506376.1_Missense_Mutation_p.R312Q|RAI14_ENST00000503673.1_Missense_Mutation_p.R320Q	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	320						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.R320Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AGTTCTATACGAGAAAACAAA	0.328																																						uc003jir.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(958-960)CGA>CAA		retinoic acid induced 14 isoform a							124.0	123.0	123.0					5																	34818921		2203	4300	6503	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34818921G>A	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.959G>A	5.37:g.34818921G>A	ENSP00000265109:p.Arg320Gln					RAI14_uc010iur.2_Missense_Mutation_p.R291Q|RAI14_uc011coj.1_Missense_Mutation_p.R320Q|RAI14_uc010ius.1_Missense_Mutation_p.R249Q|RAI14_uc003jis.2_Missense_Mutation_p.R323Q|RAI14_uc003jit.2_Missense_Mutation_p.R320Q|RAI14_uc011cok.1_Missense_Mutation_p.R312Q	p.R320Q	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN			13	1155	+	all_lung(31;0.000191)		320					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.959G>A	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	G	9.165	1.019586	0.19355	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.35421	1.37;1.31;1.37;1.37;1.36;1.41;1.4	5.77	-0.959	0.10343	.	.	.	.	.	T	0.15912	0.0383	N	0.08118	0	0.09310	N	0.999998	B;B;B;B	0.14012	0.003;0.002;0.009;0.0	B;B;B;B	0.09377	0.003;0.001;0.004;0.001	T	0.29941	-0.9995	9	0.18710	T	0.47	-0.1825	7.9486	0.30001	0.5164:0.1083:0.3753:0.0	.	312;291;323;320	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	Q	320;291;320;320;323;312;313	ENSP00000265109:R320Q;ENSP00000422377:R291Q;ENSP00000388725:R320Q;ENSP00000422942:R320Q;ENSP00000427123:R323Q;ENSP00000423854:R312Q;ENSP00000380591:R313Q	ENSP00000265109:R320Q	R	+	2	0	RAI14	34854678	0.034000	0.19679	0.830000	0.32933	0.955000	0.61496	-0.084000	0.11268	-0.423000	0.07394	-0.982000	0.02568	CGA		PASS	0.328	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		22	150	22	150	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41065440	41065440	+	Silent	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr5:41065440G>T	ENST00000399564.4	-	4	804	c.354C>A	c.(352-354)acC>acA	p.T118T		NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	118								p.T118T(1)									TACCATAGCTGGTTGCCAATT	0.408																																						uc003jmj.3																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(352-354)ACC>ACA		HEAT repeat family member 7B2							59.0	55.0	56.0					5																	41065440		1892	4110	6002	SO:0001819	synonymous_variant	133558						binding	g.chr5:41065440G>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.354C>A	5.37:g.41065440G>T							p.T118T	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			4	844	-			118					Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	c.354C>A	CCDS47202.1																																																																																				PASS	0.408	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		10	43	10	43	---	---	---	---
C6	729	broad.mit.edu	37	5	41160380	41160380	+	Silent	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr5:41160380G>A	ENST00000263413.3	-	11	1812	c.1548C>T	c.(1546-1548)gcC>gcT	p.A516A	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Silent_p.A516A	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	516	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.A516A(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GATCGAACTTGGCTGCATACT	0.517																																						uc003jmk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(1546-1548)GCC>GCT		complement component 6 precursor							226.0	196.0	206.0					5																	41160380		2203	4300	6503	SO:0001819	synonymous_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41160380G>A	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1548C>T	5.37:g.41160380G>A						C6_uc003jml.1_Silent_p.A516A	p.A516A	NM_000065	NP_000056	P13671	CO6_HUMAN			11	1758	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	516			MACPF.			Silent	SNP	ENST00000263413.3	37	c.1548C>T	CCDS3936.1																																																																																				PASS	0.517	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			54	147	54	147	---	---	---	---
HTR1A	3350	broad.mit.edu	37	5	63256368	63256368	+	Silent	SNP	A	A	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr5:63256368A>T	ENST00000323865.3	-	1	1412	c.1179T>A	c.(1177-1179)tcT>tcA	p.S393S	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	393					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.S393S(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GGTTAAGCAGAGAGTTGGAGT	0.502																																						uc011cqt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(2)	4						c.(1177-1179)TCT>TCA		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						185.0	193.0	190.0					5																	63256368		2203	4300	6503	SO:0001819	synonymous_variant	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256368A>T	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.1179T>A	5.37:g.63256368A>T							p.S393S	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	1179	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	393			Helical; Name=7; (By similarity).		Q6LAE7	Silent	SNP	ENST00000323865.3	37	c.1179T>A	CCDS34168.1																																																																																				PASS	0.502	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		39	411	39	411	---	---	---	---
SLC30A5	64924	broad.mit.edu	37	5	68419159	68419159	+	Silent	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr5:68419159C>A	ENST00000396591.3	+	14	2515	c.1905C>A	c.(1903-1905)ctC>ctA	p.L635L	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	635					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.L635L(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TAATATTTCTCAGTGTTGTTC	0.393																																						uc003jvh.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1903-1905)CTC>CTA		solute carrier family 30 (zinc transporter),							100.0	95.0	96.0					5																	68419159		2203	4300	6503	SO:0001819	synonymous_variant	64924				cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity	g.chr5:68419159C>A	AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.1905C>A	5.37:g.68419159C>A						SLC30A5_uc003jvj.2_RNA|SLC30A5_uc003jvk.2_Silent_p.L364L|SLC30A5_uc003jvi.2_Silent_p.L464L	p.L635L	NM_022902	NP_075053	Q8TAD4	ZNT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	14	2106	+		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)	635			Helical; (Potential).		B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Silent	SNP	ENST00000396591.3	37	c.1905C>A	CCDS3996.1																																																																																				PASS	0.393	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2			21	135	21	135	---	---	---	---
COL4A3BP	10087	broad.mit.edu	37	5	74696088	74696088	+	Missense_Mutation	SNP	G	G	A	rs553535427		TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr5:74696088G>A	ENST00000405807.4	-	10	1473	c.1052C>T	c.(1051-1053)aCa>aTa	p.T351I	COL4A3BP_ENST00000380494.5_Missense_Mutation_p.T479I|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.T351I	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	351					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)	p.T479I(1)|p.T351I(1)		breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		GGGCAAGGATGTAGGCCAATG	0.358																																						uc011csu.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1051-1053)ACA>ATA		alpha 3 type IV collagen binding protein isoform							112.0	105.0	107.0					5																	74696088		2203	4300	6503	SO:0001583	missense	10087				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity	g.chr5:74696088G>A	AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.1052C>T	5.37:g.74696088G>A	ENSP00000383996:p.Thr351Ile					COL4A3BP_uc003kds.2_Missense_Mutation_p.T351I|COL4A3BP_uc003kdt.2_Missense_Mutation_p.T479I|COL4A3BP_uc003kdu.2_Missense_Mutation_p.T351I	p.T351I	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1e-53)	10	1474	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	351					A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Missense_Mutation	SNP	ENST00000405807.4	37	c.1052C>T	CCDS4028.1	.	.	.	.	.	.	.	.	.	.	G	9.227	1.034756	0.19590	.	.	ENSG00000113163	ENST00000405807;ENST00000380494;ENST00000261415	T;T;T	0.32272	1.5;1.46;1.52	5.38	5.38	0.77491	.	0.328689	0.35615	N	0.003095	T	0.20414	0.0491	N	0.08118	0	0.35256	D	0.779119	B;B;B	0.17852	0.0;0.024;0.001	B;B;B	0.17433	0.001;0.018;0.003	T	0.12604	-1.0541	10	0.37606	T	0.19	-4.9074	19.134	0.93418	0.0:0.0:1.0:0.0	.	351;479;351	Q9Y5P4;Q9Y5P4-3;Q9Y5P4-2	C43BP_HUMAN;.;.	I	351;479;351	ENSP00000383996:T351I;ENSP00000369862:T479I;ENSP00000261415:T351I	ENSP00000261415:T351I	T	-	2	0	COL4A3BP	74731844	0.999000	0.42202	0.946000	0.38457	0.396000	0.30629	3.901000	0.56303	2.531000	0.85337	0.650000	0.86243	ACA		PASS	0.358	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713		15	37	15	37	---	---	---	---
PAPD4	167153	broad.mit.edu	37	5	78952809	78952809	+	Silent	SNP	C	C	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr5:78952809C>G	ENST00000296783.3	+	12	1355	c.1056C>G	c.(1054-1056)ctC>ctG	p.L352L	PAPD4_ENST00000504233.1_Silent_p.L309L|PAPD4_ENST00000453514.1_Silent_p.L352L|PAPD4_ENST00000428308.2_Silent_p.L352L|PAPD4_ENST00000423041.2_Silent_p.L348L			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	352					hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)	p.L352L(1)		biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		TTCCATCCCTCCAAAAAATTT	0.294																																						uc010jae.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1054-1056)CTC>CTG		PAP associated domain containing 4							71.0	74.0	73.0					5																	78952809		2203	4300	6503	SO:0001819	synonymous_variant	167153				histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity	g.chr5:78952809C>G	AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"""TUTase2"""	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.1056C>G	5.37:g.78952809C>G						PAPD4_uc003kgb.2_Silent_p.L352L|PAPD4_uc010jaf.1_Silent_p.L352L|PAPD4_uc003kga.2_Silent_p.L348L|PAPD4_uc003kfz.2_Silent_p.L309L	p.L352L	NM_001114393	NP_001107865	Q6PIY7	GLD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)	12	1474	+		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)	352					Q86WZ2|Q8N927	Silent	SNP	ENST00000296783.3	37	c.1056C>G	CCDS4048.1																																																																																				PASS	0.294	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226967.1	NM_173797		24	130	24	130	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	90024634	90024634	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr5:90024634G>T	ENST00000405460.2	+	49	10406	c.10310G>T	c.(10309-10311)tGg>tTg	p.W3437L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3437					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.W3437L(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTATTCAGATGGTCTGGCAGT	0.473																																						uc003kju.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(10309-10311)TGG>TTG		G protein-coupled receptor 98 precursor							89.0	86.0	87.0					5																	90024634		1903	4106	6009	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90024634G>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.10310G>T	5.37:g.90024634G>T	ENSP00000384582:p.Trp3437Leu					GPR98_uc003kjt.2_Missense_Mutation_p.W1143L|GPR98_uc003kjv.2_Missense_Mutation_p.W1037L	p.W3437L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	49	10406	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3437			EAR 4.|Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.10310G>T	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.563846|4.563846	0.86335|0.86335	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000509621|ENST00000405460;ENST00000296619	.|D	.|0.91631	.|-2.88	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94775|0.94775	0.8313|0.8313	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	.|B;D	.|0.57257	.|0.446;0.979	.|B;P	.|0.55508	.|0.111;0.777	D|D	0.95033|0.95033	0.8171|0.8171	5|10	.|0.72032	.|D	.|0.01	.|.	19.3201|19.3201	0.94234|0.94234	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3437;3437	.|E7ETI5;Q8WXG9	.|.;GPR98_HUMAN	C|L	1003|3437	.|ENSP00000384582:W3437L	.|ENSP00000296619:W3437L	G|W	+|+	1|2	0|0	GPR98|GPR98	90060390|90060390	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.747000|0.747000	0.42532|0.42532	6.638000|6.638000	0.74309|0.74309	2.571000|2.571000	0.86741|0.86741	0.563000|0.563000	0.77884|0.77884	GGT|TGG		PASS	0.473	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		50	62	50	62	---	---	---	---
FER	2241	broad.mit.edu	37	5	108207797	108207797	+	Silent	SNP	A	A	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr5:108207797A>T	ENST00000281092.4	+	8	1191	c.807A>T	c.(805-807)acA>acT	p.T269T	FER_ENST00000438717.2_Silent_p.T94T|FER_ENST00000536402.1_Silent_p.T269T	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	269	Important for interaction with membranes containing phosphoinositides.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.T269T(1)		NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TTACTAGAACAACGGCTGCTA	0.303																																					Colon(146;1051 1799 9836 27344 47401)	uc003kop.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|stomach(1)|ovary(1)|kidney(1)	5						c.(805-807)ACA>ACT		fer (fps/fes related) tyrosine kinase							53.0	52.0	52.0					5																	108207797		2200	4295	6495	SO:0001819	synonymous_variant	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108207797A>T	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.807A>T	5.37:g.108207797A>T						FER_uc011cvf.1_RNA|FER_uc011cvg.1_Silent_p.T94T	p.T269T	NM_005246	NP_005237	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	8	1191	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	269			Important for interaction with membranes containing phosphoinositides.		B2RCR4|B4DSQ2|H2FLB8	Silent	SNP	ENST00000281092.4	37	c.807A>T	CCDS4098.1																																																																																				PASS	0.303	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		14	35	14	35	---	---	---	---
MYOT	9499	broad.mit.edu	37	5	137222564	137222564	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr5:137222564A>G	ENST00000239926.4	+	9	1576	c.1202A>G	c.(1201-1203)gAt>gGt	p.D401G	PKD2L2_ENST00000290431.5_5'Flank|MYOT_ENST00000515645.1_Missense_Mutation_p.D286G|RP11-381K20.2_ENST00000514616.1_RNA|PKD2L2_ENST00000502810.1_5'Flank|MYOT_ENST00000421631.2_Missense_Mutation_p.D217G|PKD2L2_ENST00000508638.1_5'Flank|PKD2L2_ENST00000350250.4_5'Flank|PKD2L2_ENST00000508883.1_5'Flank|RP11-381K20.2_ENST00000508281.2_RNA	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	401	Ig-like C2-type 2.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)	p.D401G(1)		cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTATATCAAGATAACACTGGA	0.343																																						uc011cye.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1201-1203)GAT>GGT		myotilin isoform b							49.0	53.0	52.0					5																	137222564		2203	4299	6502	SO:0001583	missense	9499				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle	g.chr5:137222564A>G	AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"""Immunoglobulin superfamily / I-set domain containing"""	12399	protein-coding gene	gene with protein product		604103	"""titin immunoglobulin domain protein (myotilin)"", ""limb-girdle muscular dystrophy 1A (autosomal dominant)"""	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.1202A>G	5.37:g.137222564A>G	ENSP00000239926:p.Asp401Gly					PKD2L2_uc010jep.1_5'Flank|PKD2L2_uc003lbw.1_5'Flank|PKD2L2_uc003lbx.2_5'Flank|PKD2L2_uc003lby.2_5'Flank|MYOT_uc003lbv.2_Missense_Mutation_p.D401G|MYOT_uc011cyg.1_Missense_Mutation_p.D217G|MYOT_uc011cyh.1_Missense_Mutation_p.D286G	p.D401G	NM_001135940	NP_001129412	Q9UBF9	MYOTI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		9	1219	+			401			Necessary for interaction with ACTA1.|Ig-like C2-type 2.|Necessary for interaction with FLNC.		A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	c.1202A>G	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	A	18.98	3.737851	0.69304	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.68331	-0.32;-0.32;-0.32	5.77	4.59	0.56863	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.067849	0.64402	D	0.000015	T	0.78773	0.4336	M	0.71871	2.18	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.76058	-0.3098	10	0.24483	T	0.36	.	13.2942	0.60288	0.8677:0.1323:0.0:0.0	.	401	Q9UBF9	MYOTI_HUMAN	G	401;217;286	ENSP00000239926:D401G;ENSP00000391185:D217G;ENSP00000426281:D286G	ENSP00000239926:D401G	D	+	2	0	MYOT	137250463	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.494000	0.90477	1.096000	0.41439	0.477000	0.44152	GAT		PASS	0.343	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790		19	57	19	57	---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140590583	140590583	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr5:140590583C>T	ENST00000239450.2	+	1	2293	c.2104C>T	c.(2104-2106)Ctc>Ttc	p.L702F	PCDHB12_ENST00000541609.1_Missense_Mutation_p.L365F|PCDHB13_ENST00000341948.4_5'Flank	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	702					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.L702F(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCGCTCTTCCTCTTCTCGGT	0.706																																						uc003liz.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2104-2106)CTC>TTC		protocadherin beta 12 precursor							86.0	93.0	91.0					5																	140590583		2201	4297	6498	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590583C>T	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.2104C>T	5.37:g.140590583C>T	ENSP00000239450:p.Leu702Phe					PCDHB12_uc011dak.1_Missense_Mutation_p.L365F|PCDHB13_uc003lja.1_5'Flank	p.L702F	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2293	+			702			Helical; (Potential).		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.2104C>T	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	c	16.73	3.204319	0.58234	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.74737	-0.87;-0.87	3.77	2.86	0.33363	.	.	.	.	.	T	0.80193	0.4578	H	0.96080	3.765	0.23232	N	0.998075	B	0.29162	0.235	B	0.33339	0.162	T	0.75468	-0.3307	9	0.62326	D	0.03	.	3.2177	0.06705	0.1661:0.4126:0.324:0.0973	.	702	Q9Y5F1	PCDBC_HUMAN	F	365;702;322	ENSP00000440199:L365F;ENSP00000239450:L702F	ENSP00000239450:L702F	L	+	1	0	PCDHB12	140570767	0.000000	0.05858	0.882000	0.34594	0.615000	0.37417	-0.424000	0.07025	0.670000	0.31165	0.479000	0.44913	CTC		PASS	0.706	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		53	126	53	126	---	---	---	---
PCDHGA3	56112	broad.mit.edu	37	5	140723766	140723767	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr5:140723766_140723767CC>AA	ENST00000253812.6	+	1	166_167	c.166_167CC>AA	c.(166-168)CCc>AAc	p.P56N	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	56	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P56H(1)|p.P56N(1)|p.P56T(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGCTAGAGCCCCGGGAGCTG	0.609											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ljm.1																			3	Substitution - Missense(3)		lung(3)	breast(1)	1						c.(166-168)CCC>ACC|c.(166-168)CCC>CAC		protocadherin gamma subfamily A, 3 isoform 1																																				SO:0001583	missense	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140723766C>A|g.chr5:140723767C>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	Exception_encountered	5.37:g.140723766_140723767delinsAA	ENSP00000253812:p.Pro56Asn		OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.P56T|PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.P56H	p.P56T|p.P56H	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	166|167	+			56			Cadherin 1.|Extracellular (Potential).		Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.166C>A|c.167C>A	CCDS47290.1																																																																																				PASS	0.609	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		59	140|139	59	139	---	---	---	---
HTR4	3360	broad.mit.edu	37	5	147889143	147889143	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr5:147889143A>G	ENST00000377888.3	-	6	1090	c.952T>C	c.(952-954)Tct>Cct	p.S318P	HTR4_ENST00000517929.1_Missense_Mutation_p.S318P|HTR4_ENST00000360693.3_Missense_Mutation_p.S318P|HTR4_ENST00000314512.6_Missense_Mutation_p.S318P|HTR4_ENST00000520514.1_Missense_Mutation_p.S318P|HTR4_ENST00000354217.2_Missense_Mutation_p.S318P|HTR4_ENST00000521530.1_Missense_Mutation_p.S318P|HTR4_ENST00000362016.2_Missense_Mutation_p.S332P|HTR4_ENST00000521735.1_Missense_Mutation_p.S318P	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	318					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.S318P(2)|p.S332P(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	CGTCTAAAAGACTTATTCAAG	0.502																																					GBM(120;370 1604 14007 17804 41573)	uc003lpn.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(952-954)TCT>CCT		serotonin 5-HT4 receptor isoform b	Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)						101.0	95.0	97.0					5																	147889143		2203	4300	6503	SO:0001583	missense	3360				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	g.chr5:147889143A>G	Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5299	protein-coding gene	gene with protein product		602164	"""5-hydroxytryptamine (serotonin) receptor 4"""			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.952T>C	5.37:g.147889143A>G	ENSP00000367120:p.Ser318Pro					HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_Missense_Mutation_p.S318P|HTR4_uc003lpj.1_Missense_Mutation_p.S318P|HTR4_uc003lpk.2_Missense_Mutation_p.S318P|HTR4_uc011dby.1_Missense_Mutation_p.S318P|HTR4_uc003lpl.2_Missense_Mutation_p.S332P|HTR4_uc003lpm.2_Missense_Mutation_p.S318P|HTR4_uc010jgv.2_RNA|HTR4_uc003lpo.1_Missense_Mutation_p.S318P	p.S318P	NM_000870	NP_000861	Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	1116	-			318			Cytoplasmic (By similarity).		C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Missense_Mutation	SNP	ENST00000377888.3	37	c.952T>C	CCDS4291.1	.	.	.	.	.	.	.	.	.	.	A	12.78	2.040764	0.35989	.	.	ENSG00000164270	ENST00000521530;ENST00000354217;ENST00000314512;ENST00000521735;ENST00000517929;ENST00000520514;ENST00000377888;ENST00000360693;ENST00000362016	T;T;T;T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2	5.92	3.37	0.38596	.	0.145128	0.64402	D	0.000003	T	0.52677	0.1749	L	0.60455	1.87	0.47778	D	0.999518	D;D;D;D;D;D;D	0.56968	0.978;0.977;0.977;0.977;0.976;0.959;0.977	P;P;P;D;P;P;P	0.65573	0.719;0.779;0.905;0.936;0.636;0.636;0.556	T	0.54866	-0.8229	10	0.56958	D	0.05	.	13.2457	0.60022	0.7395:0.2605:0.0:0.0	.	318;318;318;332;318;318;318	C4WYH4;Q13639;Q712M9;Q13639-6;Q13639-3;Q13639-2;Q684M0	.;5HT4R_HUMAN;.;.;.;.;.	P	318;318;318;318;318;318;318;318;332	ENSP00000428320:S318P;ENSP00000346156:S318P;ENSP00000314906:S318P;ENSP00000430979:S318P;ENSP00000435904:S318P;ENSP00000427913:S318P;ENSP00000367120:S318P;ENSP00000353915:S318P;ENSP00000355037:S332P	ENSP00000314906:S318P	S	-	1	0	HTR4	147869336	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	2.787000	0.47798	1.045000	0.40225	-0.316000	0.08728	TCT		PASS	0.502	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252187.2	NM_000870		6	83	6	83	---	---	---	---
SH3TC2	79628	broad.mit.edu	37	5	148411217	148411217	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr5:148411217C>G	ENST00000515425.1	-	9	1136	c.1035G>C	c.(1033-1035)gaG>gaC	p.E345D	SH3TC2_ENST00000513340.1_5'UTR|SH3TC2_ENST00000394358.2_Missense_Mutation_p.E230D|SH3TC2_ENST00000512049.1_Missense_Mutation_p.E338D|SH3TC2_ENST00000538184.1_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	345					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)		p.E230D(1)|p.E345D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGCATCTCTCCTCATCAC	0.522																																						uc003lpu.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1033-1035)GAG>GAC		SH3 domain and tetratricopeptide repeats 2							149.0	121.0	131.0					5																	148411217		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148411217C>G	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.1035G>C	5.37:g.148411217C>G	ENSP00000423660:p.Glu345Asp					SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_5'UTR|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_5'UTR|SH3TC2_uc010jgx.2_Missense_Mutation_p.E338D|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.E230D	p.E345D	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	1187	-			345					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.1035G>C	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.260921	0.39995	.	.	ENSG00000169247	ENST00000515425;ENST00000512049;ENST00000394358	D;D;D	0.85171	-1.95;-1.93;-1.62	5.53	-0.83	0.10792	.	0.000000	0.85682	D	0.000000	D	0.88138	0.6356	L	0.52011	1.625	0.27539	N	0.950854	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.991;0.997;0.997	T	0.82839	-0.0259	10	0.72032	D	0.01	.	12.4518	0.55681	0.0:0.4557:0.0:0.5443	.	230;338;345	C9JLC3;Q14CC0;Q8TF17	.;.;S3TC2_HUMAN	D	345;338;230	ENSP00000423660:E345D;ENSP00000421860:E338D;ENSP00000377886:E230D	ENSP00000377886:E230D	E	-	3	2	SH3TC2	148391410	0.501000	0.26099	0.995000	0.50966	0.064000	0.16182	-0.217000	0.09253	-0.063000	0.13065	-0.251000	0.11542	GAG		PASS	0.522	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		25	56	25	56	---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169138961	169138961	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr5:169138961T>A	ENST00000256935.8	+	16	1585	c.1505T>A	c.(1504-1506)aTg>aAg	p.M502K	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.C29S	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	502	DHR-1.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.M502K(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATTGAAGACATGCAGAGGATC	0.517																																						uc003maf.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)	7						c.(1504-1506)ATG>AAG		dedicator of cytokinesis 2							190.0	160.0	170.0					5																	169138961		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169138961T>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.1505T>A	5.37:g.169138961T>A	ENSP00000256935:p.Met502Lys					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.C29S|DOCK2_uc010jjl.1_Missense_Mutation_p.M20K	p.M502K	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		16	1585	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	502			DHR-1.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.1505T>A	CCDS4371.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.2|26.2	4.715694|4.715694	0.89112|0.89112	.|.	.|.	ENSG00000134516|ENSG00000134516	ENST00000520908|ENST00000256935;ENST00000343291	T|T	0.04758|0.12255	3.56|2.7	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.32734|0.32734	0.0839|0.0839	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D|P;D	0.63880|0.64830	0.993|0.943;0.994	P|P;D	0.52957|0.75020	0.714|0.762;0.985	T|T	0.01914|0.01914	-1.1248|-1.1248	9|10	0.46703|0.72032	T|D	0.11|0.01	.|.	15.9662|15.9662	0.79974|0.79974	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	29|502;502	E7ERW7|E5RFJ0;Q92608	.|.;DOCK2_HUMAN	S|K	29|502;20	ENSP00000429283:C29S|ENSP00000256935:M502K	ENSP00000429283:C29S|ENSP00000256935:M502K	C|M	+|+	1|2	0|0	DOCK2|DOCK2	169071539|169071539	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.991000|7.991000	0.88244|0.88244	2.170000|2.170000	0.68504|0.68504	0.533000|0.533000	0.62120|0.62120	TGC|ATG		PASS	0.517	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		74	122	74	122	---	---	---	---
BTNL9	153579	broad.mit.edu	37	5	180482998	180482998	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr5:180482998G>T	ENST00000327705.9	+	9	1169	c.938G>T	c.(937-939)cGg>cTg	p.R313L	BTNL9_ENST00000376841.2_Missense_Mutation_p.R313L|BTNL9_ENST00000376842.3_Missense_Mutation_p.R314L	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	313	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)		p.R313L(1)		breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACTGGAGACGGGCTGAAGGC	0.537																																						uc003mmt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(937-939)CGG>CTG		butyrophilin-like 9 precursor							290.0	233.0	253.0					5																	180482998		2203	4300	6503	SO:0001583	missense	153579					integral to membrane		g.chr5:180482998G>T	AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.938G>T	5.37:g.180482998G>T	ENSP00000330200:p.Arg313Leu						p.R313L	NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1169	+	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	313			Cytoplasmic (Potential).|B30.2/SPRY.|Potential.		A6NL42|Q6P660|Q96DM5	Missense_Mutation	SNP	ENST00000327705.9	37	c.938G>T	CCDS4460.2	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248551	0.59103	.	.	ENSG00000165810	ENST00000376841;ENST00000327705;ENST00000376842;ENST00000376850	T;T;T	0.41758	4.1;1.0;0.99	4.85	4.85	0.62838	B30.2/SPRY domain (1);	0.000000	0.38663	N	0.001609	T	0.40015	0.1100	L	0.55743	1.74	0.38424	D	0.946254	B	0.28324	0.207	B	0.26969	0.075	T	0.47341	-0.9125	10	0.72032	D	0.01	.	13.8885	0.63724	0.0:0.0:1.0:0.0	.	313	Q6UXG8	BTNL9_HUMAN	L	313;313;314;313	ENSP00000366037:R313L;ENSP00000330200:R313L;ENSP00000366038:R314L	ENSP00000330200:R313L	R	+	2	0	BTNL9	180415604	1.000000	0.71417	0.998000	0.56505	0.928000	0.56348	4.862000	0.62976	2.422000	0.82143	0.449000	0.29647	CGG		PASS	0.537	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547		61	143	61	143	---	---	---	---
HIVEP1	3096	broad.mit.edu	37	6	12124417	12124417	+	Silent	SNP	A	A	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr6:12124417A>G	ENST00000379388.2	+	4	4721	c.4389A>G	c.(4387-4389)ccA>ccG	p.P1463P	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1463					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P1463P(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATGCAGTGCCATATCAGGGGC	0.438																																						uc003nac.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(4387-4389)CCA>CCG		human immunodeficiency virus type I enhancer							97.0	92.0	94.0					6																	12124417		1904	4136	6040	SO:0001819	synonymous_variant	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12124417A>G	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.4389A>G	6.37:g.12124417A>G						HIVEP1_uc011diq.1_RNA	p.P1463P	NM_002114	NP_002105	P15822	ZEP1_HUMAN			4	4568	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1463					B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	ENST00000379388.2	37	c.4389A>G	CCDS43426.1																																																																																				PASS	0.438	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		35	129	35	129	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	12718981	12718981	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr6:12718981A>G	ENST00000379350.1	+	2	134	c.5A>G	c.(4-6)gAt>gGt	p.D2G	PHACTR1_ENST00000379348.2_Missense_Mutation_p.D2G|PHACTR1_ENST00000332995.7_Missense_Mutation_p.D2G			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	2					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)	p.D2G(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TCAAGGATGGATTATCCCAAA	0.373																																						uc010jpc.2																			2	Substitution - Missense(2)		lung(2)		0						c.(4-6)GAT>GGT		phosphatase and actin regulator 1							34.0	31.0	32.0					6																	12718981		1817	4073	5890	SO:0001583	missense	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:12718981A>G	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.5A>G	6.37:g.12718981A>G	ENSP00000368655:p.Asp2Gly					PHACTR1_uc011dir.1_Missense_Mutation_p.D2G|PHACTR1_uc003nag.1_Missense_Mutation_p.D2G|PHACTR1_uc003nah.1_Missense_Mutation_p.D2G|PHACTR1_uc003nai.2_Missense_Mutation_p.D2G	p.D2G	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		3	337	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	2					A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	37	c.5A>G		.	.	.	.	.	.	.	.	.	.	A	23.3	4.400745	0.83120	.	.	ENSG00000112137	ENST00000379350;ENST00000379348;ENST00000332995;ENST00000432934	T;T;T	0.46451	0.87;0.87;0.87	6.17	6.17	0.99709	.	0.000000	0.49916	D	0.000121	T	0.38825	0.1055	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.89917	0.993;1.0;0.993;0.996	D;D;D;D	0.87578	0.971;0.998;0.971;0.981	T	0.51663	-0.8677	10	0.87932	D	0	.	14.5632	0.68156	1.0:0.0:0.0:0.0	.	2;2;2;2	E7ESR5;Q5R356;Q9C0D0;Q9C0D0-2	.;.;PHAR1_HUMAN;.	G	2	ENSP00000368655:D2G;ENSP00000368653:D2G;ENSP00000329880:D2G	ENSP00000329880:D2G	D	+	2	0	PHACTR1	12826967	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.110000	0.50352	2.371000	0.80710	0.533000	0.62120	GAT		PASS	0.373	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		2	11	2	11	---	---	---	---
NRSN1	140767	broad.mit.edu	37	6	24145808	24145809	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr6:24145808_24145809CC>AA	ENST00000378491.4	+	4	523_524	c.222_223CC>AA	c.(220-225)atCCtc>atAAtc	p.L75I		NM_080723.4	NP_542454.3			neurensin 1									p.L75I(2)|p.I74I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						TTTTTGTGATCCTCGGATTGAC	0.51																																						uc010jpq.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(220-222)ATC>ATA|c.(223-225)CTC>ATC		neurensin 1																																				SO:0001583	missense	140767				nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		g.chr6:24145808C>A|g.chr6:24145809C>A	AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"""vesicular membrane protein p24"""	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	Exception_encountered	6.37:g.24145808_24145809delinsAA	ENSP00000367752:p.Leu75Ile						p.I74I|p.L75I	NM_080723	NP_542454	Q8IZ57	NRSN1_HUMAN			4	459|460	+			74|75			Helical; (Potential).			Silent|Missense_Mutation	SNP	ENST00000378491.4	37	c.222C>A|c.223C>A	CCDS4549.1																																																																																				PASS	0.510	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	NM_080723		22|20	163|165	20	163	---	---	---	---
PRSS16	10279	broad.mit.edu	37	6	27215710	27215710	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr6:27215710C>A	ENST00000230582.3	+	2	135	c.120C>A	c.(118-120)agC>agA	p.S40R	PRSS16_ENST00000421826.2_Missense_Mutation_p.S40R	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	40					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)	p.S40R(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TTCAGGAGAGCTCTGCCCAGG	0.637																																					NSCLC(178;1118 2105 17078 23587 44429)	uc003nja.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(118-120)AGC>AGA		protease, serine, 16 precursor							51.0	52.0	51.0					6																	27215710		2203	4300	6503	SO:0001583	missense	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27215710C>A	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.120C>A	6.37:g.27215710C>A	ENSP00000230582:p.Ser40Arg					PRSS16_uc011dkt.1_RNA|PRSS16_uc003njb.2_Missense_Mutation_p.S40R|PRSS16_uc010jqq.1_5'Flank|PRSS16_uc010jqr.1_5'Flank|PRSS16_uc003njc.1_5'Flank	p.S40R	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN			2	132	+			40					O75416	Missense_Mutation	SNP	ENST00000230582.3	37	c.120C>A	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	c	10.59	1.393313	0.25118	.	.	ENSG00000112812	ENST00000421826;ENST00000230582;ENST00000343467;ENST00000348953	T;T	0.51071	0.72;2.52	2.77	1.89	0.25635	.	1.108760	0.06755	N	0.780711	T	0.11110	0.0271	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.002;0.001	T	0.27571	-1.0070	10	0.15066	T	0.55	-3.3002	5.4911	0.16777	0.0:0.8417:0.0:0.1583	.	40;40	F2Z2N5;Q9NQE7	.;TSSP_HUMAN	R	40	ENSP00000404349:S40R;ENSP00000230582:S40R	ENSP00000230582:S40R	S	+	3	2	PRSS16	27323689	0.004000	0.15560	0.005000	0.12908	0.434000	0.31775	0.327000	0.19663	0.748000	0.32831	0.563000	0.77884	AGC		PASS	0.637	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			12	74	12	74	---	---	---	---
ZNF165	7718	broad.mit.edu	37	6	28056825	28056825	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr6:28056825G>T	ENST00000377325.1	+	4	1591	c.1035G>T	c.(1033-1035)caG>caT	p.Q345H	ZSCAN12P1_ENST00000529104.1_RNA	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	345					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.Q345H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AAACTCATCAGTGTAATGAAT	0.388																																						uc003nkg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1033-1035)CAG>CAT		zinc finger protein 165							50.0	50.0	50.0					6																	28056825		2203	4300	6503	SO:0001583	missense	7718				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28056825G>T	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"""-"", ""Zinc fingers, C2H2-type"""	12953	protein-coding gene	gene with protein product	"""cancer/testis antigen 53"""	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.1035G>T	6.37:g.28056825G>T	ENSP00000366542:p.Gln345His					ZNF165_uc003nkh.2_Missense_Mutation_p.Q345H|ZNF165_uc003nki.3_Missense_Mutation_p.Q345H|ZSCAN12P1_uc003nkj.3_5'Flank	p.Q345H	NM_003447	NP_003438	P49910	ZN165_HUMAN			5	2119	+			345			C2H2-type 2.			Missense_Mutation	SNP	ENST00000377325.1	37	c.1035G>T	CCDS4643.1	.	.	.	.	.	.	.	.	.	.	G	0.596	-0.831068	0.02713	.	.	ENSG00000197279	ENST00000377325	T	0.29142	1.58	2.94	-1.22	0.09494	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08935	0.0221	M	0.65975	2.015	0.09310	N	0.999998	B	0.25169	0.119	B	0.21151	0.033	T	0.31641	-0.9936	9	0.27082	T	0.32	.	1.0537	0.01586	0.3242:0.1551:0.3634:0.1574	.	345	P49910	ZN165_HUMAN	H	345	ENSP00000366542:Q345H	ENSP00000366542:Q345H	Q	+	3	2	ZNF165	28164804	0.000000	0.05858	0.764000	0.31436	0.627000	0.37826	-0.557000	0.05985	-0.160000	0.11002	0.585000	0.79938	CAG		PASS	0.388	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	NM_003447		10	85	10	85	---	---	---	---
ZSCAN31	64288	broad.mit.edu	37	6	28294523	28294523	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr6:28294523G>C	ENST00000414429.1	-	8	1544	c.641C>G	c.(640-642)tCt>tGt	p.S214C	ZSCAN31_ENST00000446474.1_Missense_Mutation_p.S55C|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.S214C|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.S214C|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.S214C|ZSCAN31_ENST00000481934.1_5'Flank			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	214					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.S214C(1)									TCTGTACTTAGAATCCAAAGA	0.433																																						uc003nla.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(640-642)TCT>TGT		zinc finger protein 323							107.0	104.0	105.0					6																	28294523		2203	4300	6503	SO:0001583	missense	64288				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28294523G>C		CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"""-"", ""Zinc fingers, C2H2-type"""	14097	protein-coding gene	gene with protein product		610794	"""zinc finger protein 310 pseudogene"", ""zinc finger protein 323"""	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.641C>G	6.37:g.28294523G>C	ENSP00000390076:p.Ser214Cys					ZNF323_uc003nld.2_Missense_Mutation_p.S214C|ZNF323_uc010jra.2_Missense_Mutation_p.S214C|ZNF323_uc003nlb.2_Missense_Mutation_p.S55C|ZNF323_uc010jrb.2_Missense_Mutation_p.S55C|ZNF323_uc003nlc.2_Missense_Mutation_p.S214C	p.S214C	NM_001135216	NP_001128688	Q96LW9	ZN323_HUMAN			4	1041	-			214					Q6P178|Q8WWS5	Missense_Mutation	SNP	ENST00000414429.1	37	c.641C>G	CCDS4649.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618260	0.46736	.	.	ENSG00000235109	ENST00000396838;ENST00000439158;ENST00000414429;ENST00000446474;ENST00000344279;ENST00000435857;ENST00000414431;ENST00000453745	T;T;T;T;T;T;T;T	0.06849	3.29;3.29;3.29;3.25;3.29;3.32;5.83;4.23	4.47	4.47	0.54385	.	.	.	.	.	T	0.06050	0.0157	N	0.20401	0.57	0.09310	N	1	D	0.69078	0.997	P	0.55965	0.788	T	0.34354	-0.9832	9	0.41790	T	0.15	.	14.9755	0.71267	0.0:0.0:1.0:0.0	.	214	Q96LW9	ZN323_HUMAN	C	214;214;214;55;214;55;55;214	ENSP00000380050:S214C;ENSP00000413705:S214C;ENSP00000390076:S214C;ENSP00000402937:S55C;ENSP00000345339:S214C;ENSP00000391235:S55C;ENSP00000407529:S55C;ENSP00000389479:S214C	ENSP00000345339:S214C	S	-	2	0	ZNF323	28402502	.	.	0.025000	0.17156	0.576000	0.36127	.	.	2.174000	0.68829	0.467000	0.42956	TCT		PASS	0.433	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899		38	169	38	169	---	---	---	---
ZSCAN31	64288	broad.mit.edu	37	6	28295160	28295160	+	Splice_Site	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr6:28295160C>A	ENST00000414429.1	-	7	1435	c.532G>T	c.(532-534)Gat>Tat	p.D178Y	ZSCAN31_ENST00000446474.1_Splice_Site_p.D19Y|ZSCAN31_ENST00000396838.2_Splice_Site_p.D178Y|ZSCAN31_ENST00000439158.1_Splice_Site_p.D178Y|ZSCAN31_ENST00000344279.6_Splice_Site_p.D178Y|ZSCAN31_ENST00000481934.1_5'Flank			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	178					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.D178Y(1)									AAATCCTTACCTTGTTCTTGA	0.458																																						uc003nla.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(532-534)GAT>TAT		zinc finger protein 323							169.0	153.0	158.0					6																	28295160		2203	4300	6503	SO:0001630	splice_region_variant	64288				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28295160C>A		CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"""-"", ""Zinc fingers, C2H2-type"""	14097	protein-coding gene	gene with protein product		610794	"""zinc finger protein 310 pseudogene"", ""zinc finger protein 323"""	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.532+1G>T	6.37:g.28295160C>A						ZNF323_uc003nld.2_Missense_Mutation_p.D178Y|ZNF323_uc010jra.2_Missense_Mutation_p.D178Y|ZNF323_uc003nlb.2_Missense_Mutation_p.D19Y|ZNF323_uc010jrb.2_Missense_Mutation_p.D19Y|ZNF323_uc003nlc.2_Missense_Mutation_p.D178Y	p.D178Y	NM_001135216	NP_001128688	Q96LW9	ZN323_HUMAN			3	932	-			178					Q6P178|Q8WWS5	Missense_Mutation	SNP	ENST00000414429.1	37	c.532G>T	CCDS4649.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.781127	0.31502	.	.	ENSG00000235109	ENST00000396838;ENST00000439158;ENST00000414429;ENST00000446474;ENST00000344279;ENST00000435857;ENST00000414431;ENST00000453745;ENST00000426434	T;T;T;T;T;T;T;T;T	0.64438	3.37;3.37;3.37;3.33;3.37;3.39;5.85;4.14;-0.1	2.49	2.49	0.30216	.	.	.	.	.	T	0.44329	0.1288	L	0.58810	1.83	0.28835	N	0.896902	P	0.41214	0.742	B	0.41813	0.367	T	0.22487	-1.0215	8	.	.	.	.	11.1165	0.48264	0.0:1.0:0.0:0.0	.	178	Q96LW9	ZN323_HUMAN	Y	178;178;178;19;178;19;19;178;62	ENSP00000380050:D178Y;ENSP00000413705:D178Y;ENSP00000390076:D178Y;ENSP00000402937:D19Y;ENSP00000345339:D178Y;ENSP00000391235:D19Y;ENSP00000407529:D19Y;ENSP00000389479:D178Y;ENSP00000398680:D62Y	.	D	-	1	0	ZNF323	28403139	0.705000	0.27846	0.999000	0.59377	0.452000	0.32318	0.548000	0.23314	1.704000	0.51252	0.467000	0.42956	GAT		PASS	0.458	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899	Missense_Mutation	29	193	29	193	---	---	---	---
OR11A1	26531	broad.mit.edu	37	6	29395345	29395345	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr6:29395345A>G	ENST00000377149.1	-	5	546	c.74T>C	c.(73-75)cTg>cCg	p.L25P	OR11A1_ENST00000377147.2_Missense_Mutation_p.L25P|OR11A1_ENST00000377148.1_Missense_Mutation_p.L25P|OR5V1_ENST00000377154.1_Intron			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L25P(1)		cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						CAAGAAATGCAGTTCAGGGAT	0.418																																						uc003nmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(73-75)CTG>CCG		olfactory receptor, family 11, subfamily A,							74.0	73.0	74.0					6																	29395345		1510	2709	4219	SO:0001583	missense	26531				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29395345A>G		CCDS34363.1	6p22.2-p21.31	2014-02-19	2002-02-28		ENSG00000204694	ENSG00000204694		"""GPCR / Class A : Olfactory receptors"""	8176	protein-coding gene	gene with protein product			"""olfactory receptor, family 11, subfamily A, member 2"""	OR11A2			Standard	XM_005249001		Approved	hs6M1-18	uc003nmg.3	Q9GZK7	OTTHUMG00000031225	ENST00000377149.1:c.74T>C	6.37:g.29395345A>G	ENSP00000366354:p.Leu25Pro						p.L25P	NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN			1	165	-			25			Extracellular (Potential).		A2BF33|A6NFQ3|B0S7T2|Q5ST16|Q9GZK8	Missense_Mutation	SNP	ENST00000377149.1	37	c.74T>C	CCDS34363.1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.157150	0.38119	.	.	ENSG00000204694	ENST00000377148;ENST00000377149;ENST00000377147	T;T;T	0.03413	3.94;3.94;3.94	3.77	-2.46	0.06461	.	0.000000	0.26895	U	0.021949	T	0.06462	0.0166	M	0.89214	3.015	0.21386	N	0.999708	D	0.76494	0.999	D	0.72075	0.976	T	0.06972	-1.0797	10	0.66056	D	0.02	-11.1346	3.0162	0.06060	0.5049:0.0:0.1965:0.2986	.	25	Q9GZK7	O11A1_HUMAN	P	25	ENSP00000366353:L25P;ENSP00000366354:L25P;ENSP00000366352:L25P	ENSP00000366352:L25P	L	-	2	0	OR11A1	29503324	0.002000	0.14202	0.001000	0.08648	0.145000	0.21501	1.207000	0.32333	-0.213000	0.10094	-0.904000	0.02843	CTG		PASS	0.418	OR11A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193778.1			14	80	14	80	---	---	---	---
RING1	6015	broad.mit.edu	37	6	33179559	33179559	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr6:33179559C>G	ENST00000374656.4	+	6	1107	c.899C>G	c.(898-900)gCc>gGc	p.A300G	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	300	Necessary for interaction with CBX2. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A300G(1)		endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						AAGTACTTGGCCCTGCGCATT	0.627																																						uc003odk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(898-900)GCC>GGC		ring finger protein 1							108.0	111.0	110.0					6																	33179559		2203	4300	6503	SO:0001583	missense	6015				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding	g.chr6:33179559C>G		CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"""RING-type (C3HC4) zinc fingers"""	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.899C>G	6.37:g.33179559C>G	ENSP00000363787:p.Ala300Gly					RING1_uc003odl.2_Missense_Mutation_p.A271G	p.A300G	NM_002931	NP_002922	Q06587	RING1_HUMAN			6	1093	+			300			Necessary for interaction with CBX2 (By similarity).		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Missense_Mutation	SNP	ENST00000374656.4	37	c.899C>G	CCDS34424.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093074	0.36952	.	.	ENSG00000204227	ENST00000374656	D	0.92299	-3.01	4.2	4.2	0.49525	.	0.000000	0.64402	D	0.000002	D	0.93012	0.7776	L	0.49126	1.545	0.54753	D	0.999989	D	0.63880	0.993	D	0.70227	0.968	D	0.93649	0.6971	10	0.62326	D	0.03	-27.8873	14.095	0.65016	0.0:1.0:0.0:0.0	.	300	Q06587	RING1_HUMAN	G	300	ENSP00000363787:A300G	ENSP00000363787:A300G	A	+	2	0	RING1	33287537	1.000000	0.71417	1.000000	0.80357	0.035000	0.12851	7.264000	0.78432	2.141000	0.66446	0.551000	0.68910	GCC		PASS	0.627	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2			31	209	31	209	---	---	---	---
GRM4	2914	broad.mit.edu	37	6	34008084	34008084	+	Silent	SNP	T	T	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr6:34008084T>A	ENST00000538487.2	-	8	1820	c.1377A>T	c.(1375-1377)gcA>gcT	p.A459A	GRM4_ENST00000535756.1_Silent_p.A326A|GRM4_ENST00000374177.3_Silent_p.A343A|GRM4_ENST00000544773.2_Silent_p.A290A|GRM4_ENST00000455714.2_Silent_p.A319A|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000609222.1_Silent_p.A326A|GRM4_ENST00000374181.4_Silent_p.A459A	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	459					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.A459A(2)|p.A343A(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CAGGGTTCCCTGCGATGCCTG	0.567																																						uc003oir.3																			3	Substitution - coding silent(3)		lung(3)	lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6						c.(1375-1377)GCA>GCT		glutamate receptor, metabotropic 4 precursor	L-Glutamic Acid(DB00142)						125.0	122.0	123.0					6																	34008084		2203	4300	6503	SO:0001819	synonymous_variant	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34008084T>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.1377A>T	6.37:g.34008084T>A						GRM4_uc011dsn.1_Silent_p.A412A|GRM4_uc010jvh.2_Silent_p.A459A|GRM4_uc010jvi.2_Silent_p.A151A|GRM4_uc003oio.2_Silent_p.A151A|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.A319A|GRM4_uc003oiq.2_Silent_p.A326A|GRM4_uc011dsm.1_Silent_p.A290A	p.A459A	NM_000841	NP_000832	Q14833	GRM4_HUMAN			7	1547	-			459			Extracellular (Potential).		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	ENST00000538487.2	37	c.1377A>T	CCDS4787.1																																																																																				PASS	0.567	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			23	172	23	172	---	---	---	---
FAM83B	222584	broad.mit.edu	37	6	54806713	54806713	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr6:54806713A>G	ENST00000306858.7	+	5	3060	c.2944A>G	c.(2944-2946)Aac>Gac	p.N982D	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	982								p.N982D(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GCTTAATTACAACACTGGTGT	0.363																																						uc003pck.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(2944-2946)AAC>GAC		hypothetical protein LOC222584							63.0	61.0	61.0					6																	54806713		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54806713A>G	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2944A>G	6.37:g.54806713A>G	ENSP00000304078:p.Asn982Asp						p.N982D	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			5	3060	+	Lung NSC(77;0.0178)|Renal(3;0.122)		982					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.2944A>G	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	A	19.22	3.785004	0.70222	.	.	ENSG00000168143	ENST00000306858	T	0.32023	1.47	5.76	5.76	0.90799	.	0.200700	0.42964	D	0.000640	T	0.19406	0.0466	M	0.61703	1.905	0.41414	D	0.987751	P	0.39665	0.682	B	0.31390	0.129	T	0.07712	-1.0758	10	0.59425	D	0.04	-12.9317	16.087	0.81065	1.0:0.0:0.0:0.0	.	982	Q5T0W9	FA83B_HUMAN	D	982	ENSP00000304078:N982D	ENSP00000304078:N982D	N	+	1	0	FAM83B	54914672	1.000000	0.71417	0.988000	0.46212	0.964000	0.63967	5.772000	0.68889	2.202000	0.70862	0.533000	0.62120	AAC		PASS	0.363	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		11	106	11	106	---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75843650	75843650	+	Missense_Mutation	SNP	C	C	A	rs377417661		TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr6:75843650C>A	ENST00000322507.8	-	33	5897	c.5588G>T	c.(5587-5589)cGc>cTc	p.R1863L	COL12A1_ENST00000483888.2_Missense_Mutation_p.R1863L|COL12A1_ENST00000345356.6_Missense_Mutation_p.R699L|COL12A1_ENST00000416123.2_Missense_Mutation_p.R1863L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1863	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.R1863L(1)		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						ATGGTCCCAGCGGACATTCAA	0.448																																						uc003phs.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(5587-5589)CGC>CTC		collagen, type XII, alpha 1 long isoform		C	LEU/ARG,LEU/ARG	0,3866		0,0,1933	108.0	102.0	104.0		5588,2096	5.1	1.0	6		104	2,8286		0,2,4142	no	missense,missense	COL12A1	NM_004370.5,NM_080645.2	102,102	0,2,6075	AA,AC,CC		0.0241,0.0,0.0165	probably-damaging,probably-damaging	1863/3064,699/1900	75843650	2,12152	1933	4144	6077	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.chr6:75843650C>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.5588G>T	6.37:g.75843650C>A	ENSP00000325146:p.Arg1863Leu					COL12A1_uc003pht.2_Missense_Mutation_p.R699L	p.R1863L	NM_004370	NP_004361	Q99715	COCA1_HUMAN			33	5754	-			1863			Fibronectin type-III 14.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.5588G>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824739	0.71143	0.0	2.41E-4	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.95	5.08	0.68730	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.087834	0.50627	D	0.000119	T	0.54498	0.1862	L	0.50333	1.59	0.47659	D	0.999486	P;D	0.57571	0.948;0.98	P;P	0.58660	0.595;0.843	T	0.59337	-0.7473	10	0.54805	T	0.06	.	16.5956	0.84795	0.1314:0.8686:0.0:0.0	.	699;1863	Q99715-2;Q99715	.;COCA1_HUMAN	L	1863;1863;699;1863;1863	ENSP00000325146:R1863L;ENSP00000305147:R699L;ENSP00000412864:R1863L;ENSP00000421216:R1863L	ENSP00000325146:R1863L	R	-	2	0	COL12A1	75900370	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.688000	0.46984	1.513000	0.48852	0.655000	0.94253	CGC		PASS	0.448	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		7	58	7	58	---	---	---	---
RARS2	57038	broad.mit.edu	37	6	88255364	88255364	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr6:88255364T>A	ENST00000369536.5	-	7	550	c.505A>T	c.(505-507)Aat>Tat	p.N169Y		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	169					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.N169Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		CCAAGGTAATTTATTCTTATT	0.284																																						uc003pme.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(505-507)AAT>TAT		arginyl-tRNA synthetase 2, mitochondrial							121.0	127.0	125.0					6																	88255364		2203	4298	6501	SO:0001583	missense	57038				arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr6:88255364T>A	AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	21406	protein-coding gene	gene with protein product	"""arginine tRNA ligase 2, mitochondrial (putative)"""	611524	"""arginyl-tRNA synthetase-like"""	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.505A>T	6.37:g.88255364T>A	ENSP00000358549:p.Asn169Tyr					RARS2_uc003pmb.2_5'UTR|RARS2_uc003pmc.2_5'UTR|RARS2_uc003pmd.2_Intron|RARS2_uc003pmf.2_RNA	p.N169Y	NM_020320	NP_064716	Q5T160	SYRM_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0456)	7	565	-		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	169					B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	ENST00000369536.5	37	c.505A>T	CCDS5011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.4|20.4	3.984175|3.984175	0.74474|0.74474	.|.	.|.	ENSG00000146282|ENSG00000146282	ENST00000369536;ENST00000369523|ENST00000451155	T|.	0.63744|.	-0.06|.	6.17|6.17	5.01|5.01	0.66863|0.66863	Arginyl-tRNA synthetase, class Ia, core (2);Rossmann-like alpha/beta/alpha sandwich fold (1);|.	0.084638|.	0.85682|.	D|.	0.000000|.	T|.	0.76800|.	0.4038|.	M|M	0.93763|0.93763	3.455|3.455	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|.	0.82876|.	-0.0240|.	10|.	0.87932|.	D|.	0|.	.|.	11.3434|11.3434	0.49546|0.49546	0.0:0.0715:0.0:0.9285|0.0:0.0715:0.0:0.9285	.|.	169|.	Q5T160|.	SYRM_HUMAN|.	Y|Y	169;196|196	ENSP00000358549:N169Y|.	ENSP00000358536:N196Y|.	N|X	-|-	1|3	0|2	RARS2|RARS2	88312083|88312083	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.568000|6.568000	0.73987|0.73987	1.149000|1.149000	0.42402|0.42402	0.533000|0.533000	0.62120|0.62120	AAT|TAA		PASS	0.284	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		50	207	50	207	---	---	---	---
C6orf203	51250	broad.mit.edu	37	6	107361404	107361404	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr6:107361404T>G	ENST00000405204.2	+	2	1047	c.440T>G	c.(439-441)gTc>gGc	p.V147G	C6orf203_ENST00000311381.5_Missense_Mutation_p.V147G|C6orf203_ENST00000489790.1_3'UTR|C6orf203_ENST00000443043.1_Missense_Mutation_p.V152G	NM_001142468.1	NP_001135940.1	Q9P0P8	CF203_HUMAN	chromosome 6 open reading frame 203	147						mitochondrion (GO:0005739)		p.V147G(1)		large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		TATGATGTTGTCCTGAAGACG	0.388																																						uc003prq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(439-441)GTC>GGC		hypothetical protein LOC51250 isoform a							105.0	100.0	102.0					6																	107361404		2203	4300	6503	SO:0001583	missense	51250							g.chr6:107361404T>G	AF151064	CCDS5058.1	6q21	2012-02-22			ENSG00000130349	ENSG00000130349			17971	protein-coding gene	gene with protein product						11042152, 11707072	Standard	XM_005267008		Approved	HSPC230, PRED31	uc003prq.3	Q9P0P8	OTTHUMG00000015307	ENST00000405204.2:c.440T>G	6.37:g.107361404T>G	ENSP00000384867:p.Val147Gly					C6orf203_uc011eaj.1_Missense_Mutation_p.V152G|C6orf203_uc010kde.2_Missense_Mutation_p.V147G	p.V147G	NM_016487	NP_057571	Q9P0P8	CF203_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)	2	521	+	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	147					B3KRG9	Missense_Mutation	SNP	ENST00000405204.2	37	c.440T>G	CCDS5058.1	.	.	.	.	.	.	.	.	.	.	T	13.64	2.296933	0.40594	.	.	ENSG00000130349	ENST00000443043;ENST00000405204;ENST00000311381	T;T;T	0.35421	1.31;1.31;1.31	6.08	6.08	0.98989	.	0.203722	0.43416	D	0.000571	T	0.34571	0.0902	L	0.43152	1.355	0.58432	D	0.999991	P	0.46220	0.874	P	0.50754	0.649	T	0.15838	-1.0423	10	0.87932	D	0	-4.4652	16.643	0.85134	0.0:0.0:0.0:1.0	.	147	Q9P0P8	CF203_HUMAN	G	152;147;147	ENSP00000390153:V152G;ENSP00000384867:V147G;ENSP00000310951:V147G	ENSP00000310951:V147G	V	+	2	0	C6orf203	107468097	0.998000	0.40836	0.920000	0.36463	0.015000	0.08874	7.176000	0.77643	2.330000	0.79161	0.533000	0.62120	GTC		PASS	0.388	C6orf203-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041684.1	NM_016487		14	87	14	87	---	---	---	---
METTL24	728464	broad.mit.edu	37	6	110644054	110644054	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr6:110644054G>T	ENST00000338882.4	-	2	339	c.340C>A	c.(340-342)Ctc>Atc	p.L114I	METTL24_ENST00000490043.1_5'UTR	NM_001123364.1	NP_001116836.1	Q5JXM2	MET24_HUMAN	methyltransferase like 24	114						extracellular region (GO:0005576)	methyltransferase activity (GO:0008168)	p.L114I(1)									CAAGGCTGGAGATCTATATGC	0.522																																						uc010kdu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(340-342)CTC>ATC		chromosome 6 open reading frame 186 precursor							66.0	63.0	64.0					6																	110644054		1568	3582	5150	SO:0001583	missense	728464					extracellular region		g.chr6:110644054G>T		CCDS43489.1	6q21	2012-03-08	2012-02-21	2012-02-21	ENSG00000053328	ENSG00000053328			21566	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 186"""	C6orf186			Standard	NM_001123364		Approved	dJ71D21.2	uc010kdu.1	Q5JXM2	OTTHUMG00000015359	ENST00000338882.4:c.340C>A	6.37:g.110644054G>T	ENSP00000344071:p.Leu114Ile					C6orf186_uc003pub.2_5'UTR	p.L114I	NM_001123364	NP_001116836	Q5JXM2	CF186_HUMAN			2	340	-			114					Q6ZSU5	Missense_Mutation	SNP	ENST00000338882.4	37	c.340C>A	CCDS43489.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.042202	0.75732	.	.	ENSG00000053328	ENST00000338882	T	0.62232	0.04	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000001	T	0.72317	0.3445	M	0.66939	2.045	0.48975	D	0.999738	D	0.76494	0.999	D	0.78314	0.991	T	0.75306	-0.3364	10	0.72032	D	0.01	-17.6635	14.7961	0.69878	0.0:0.0:1.0:0.0	.	114	Q5JXM2	CF186_HUMAN	I	114	ENSP00000344071:L114I	ENSP00000344071:L114I	L	-	1	0	C6orf186	110750747	1.000000	0.71417	0.954000	0.39281	0.610000	0.37248	6.169000	0.71913	2.563000	0.86464	0.650000	0.86243	CTC		PASS	0.522	METTL24-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041794.1	NM_001123364		15	72	15	72	---	---	---	---
RFPL4B	442247	broad.mit.edu	37	6	112671478	112671478	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr6:112671478C>G	ENST00000441065.2	+	3	880	c.568C>G	c.(568-570)Cat>Gat	p.H190D	RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000587816.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	190	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.H190D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		AGGAGCAATCCATGCTAACAC	0.512																																						uc003pvx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(568-570)CAT>GAT		ret finger protein-like 4B							76.0	73.0	74.0					6																	112671478		2203	4300	6503	SO:0001583	missense	442247						zinc ion binding	g.chr6:112671478C>G	AK122906	CCDS34515.1	6q21	2007-04-24			ENSG00000251258	ENSG00000251258		"""RING-type (C3HC4) zinc fingers"""	33264	protein-coding gene	gene with protein product							Standard	NM_001013734		Approved	RNF211	uc003pvx.1	Q6ZWI9	OTTHUMG00000015390	ENST00000441065.2:c.568C>G	6.37:g.112671478C>G	ENSP00000423391:p.His190Asp						p.H190D	NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)	3	880	+		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)	190			B30.2/SPRY.		A2RU91	Missense_Mutation	SNP	ENST00000441065.2	37	c.568C>G	CCDS34515.1	.	.	.	.	.	.	.	.	.	.	C	9.417	1.081906	0.20309	.	.	ENSG00000251258	ENST00000441065	T	0.70282	-0.47	4.27	-3.05	0.05396	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	1.426010	0.05089	N	0.484827	T	0.39989	0.1099	N	0.25890	0.77	0.09310	N	1	P	0.42584	0.784	P	0.45167	0.472	T	0.41233	-0.9520	10	0.62326	D	0.03	.	4.3072	0.10953	0.2598:0.3856:0.0:0.3546	.	190	Q6ZWI9	RFPLB_HUMAN	D	190	ENSP00000423391:H190D	ENSP00000423391:H190D	H	+	1	0	RFPL4B	112778171	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.843000	0.04350	-0.598000	0.05806	-0.140000	0.14226	CAT		PASS	0.512	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041885.2	NM_001013734		20	81	20	81	---	---	---	---
RFX6	222546	broad.mit.edu	37	6	117245953	117245953	+	Splice_Site	SNP	A	A	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr6:117245953A>G	ENST00000332958.2	+	15	1693	c.1677A>G	c.(1675-1677)tcA>tcG	p.S559S		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	559					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.S559S(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGAAGAATTCAGGTAACTTAA	0.308																																						uc003pxm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1675-1677)TCA>TCG		regulatory factor X, 6							73.0	74.0	73.0					6																	117245953		2202	4300	6502	SO:0001630	splice_region_variant	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117245953A>G	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1678+1A>G	6.37:g.117245953A>G							p.S559S	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			15	1740	+			559					Q5T6B3	Silent	SNP	ENST00000332958.2	37	c.1677A>G	CCDS5113.1																																																																																				PASS	0.308	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560	Silent	18	96	18	96	---	---	---	---
ENPP3	5169	broad.mit.edu	37	6	131973776	131973776	+	Silent	SNP	T	T	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr6:131973776T>C	ENST00000414305.1	+	5	700	c.372T>C	c.(370-372)gaT>gaC	p.D124D	ENPP3_ENST00000470930.1_3'UTR|ENPP3_ENST00000427148.2_Silent_p.D90D|ENPP3_ENST00000357639.3_Silent_p.D124D|ENPP3_ENST00000543135.1_Silent_p.D90D|ENPP3_ENST00000358229.5_Silent_p.D124D			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	124	SMB 2. {ECO:0000255|PROSITE- ProRule:PRU00350}.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.D124D(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AGAGGAAAGATTGCTGTGCTG	0.458																																						uc003qcu.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(370-372)GAT>GAC		ectonucleotide pyrophosphatase/phosphodiesterase							175.0	157.0	163.0					6																	131973776		2203	4300	6503	SO:0001819	synonymous_variant	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:131973776T>C	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.372T>C	6.37:g.131973776T>C						ENPP3_uc010kfn.1_RNA|ENPP3_uc011ecc.1_Silent_p.D90D|ENPP3_uc010kfo.1_RNA|ENPP3_uc010kfp.1_RNA|ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Silent_p.D124D	p.D124D	NM_005021	NP_005012	O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	5	719	+	Breast(56;0.0753)		124			Extracellular (Potential).|SMB 2.		Q5JTL3	Silent	SNP	ENST00000414305.1	37	c.372T>C	CCDS5148.1																																																																																				PASS	0.458	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			30	123	30	123	---	---	---	---
EPM2A	7957	broad.mit.edu	37	6	145948803	145948803	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr6:145948803C>A	ENST00000367519.3	-	4	1270	c.745G>T	c.(745-747)Gtg>Ttg	p.V249L		NM_005670.3	NP_005661.1	O95278	EPM2A_HUMAN	epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)	249	Tyrosine-protein phosphatase.				autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|habituation (GO:0046959)|inositol phosphate dephosphorylation (GO:0046855)|nervous system development (GO:0007399)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polysome (GO:0005844)	carbohydrate phosphatase activity (GO:0019203)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|starch binding (GO:2001070)	p.V249L(1)		kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7		Ovarian(120;0.162)		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)		AGCAGGCACACCGCCTGGGGC	0.632																																						uc003qkw.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(745-747)GTG>TTG		laforin isoform a							38.0	37.0	37.0					6																	145948803		2203	4300	6503	SO:0001583	missense	7957				glycogen metabolic process	cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome	carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:145948803C>A	AF284580	CCDS5206.1	6q24	2011-06-09			ENSG00000112425	ENSG00000112425		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3413	protein-coding gene	gene with protein product		607566	"""epilepsy, progressive myoclonus type 2, Lafora disease (laforin)"""			9222970, 7485240	Standard	XM_006715564		Approved	LDE, LD	uc003qkw.3	B3EWF7	OTTHUMG00000015747	ENST00000367519.3:c.745G>T	6.37:g.145948803C>A	ENSP00000356489:p.Val249Leu					EPM2A_uc003qkv.2_Missense_Mutation_p.V249L|EPM2A_uc010khr.2_Missense_Mutation_p.G168V|EPM2A_uc003qkx.2_Missense_Mutation_p.V111L|EPM2A_uc003qku.2_Missense_Mutation_p.V95L	p.V249L	NM_005670	NP_005661	O95278	EPM2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)	4	1102	-		Ovarian(120;0.162)	249			Tyrosine-protein phosphatase.		B3KMU5|B4DRZ2|O95483|Q5T3F5|Q6IS15|Q8IU96|Q8IX24|Q8IX25|Q9BS66|Q9UEN2	Missense_Mutation	SNP	ENST00000367519.3	37	c.745G>T	CCDS5206.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434701	0.83885	.	.	ENSG00000112425	ENST00000367519;ENST00000392304;ENST00000324857	T	0.60424	0.19	5.72	5.72	0.89469	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63663	0.2530	M	0.67517	2.055	0.80722	D	1	P;D;P	0.52996	0.924;0.957;0.815	P;P;P	0.53649	0.731;0.493;0.508	T	0.63107	-0.6711	10	0.46703	T	0.11	-37.2373	19.8761	0.96870	0.0:1.0:0.0:0.0	.	249;249;111	O95278;O95278-2;E1P599	EPM2A_HUMAN;.;.	L	249	ENSP00000356489:V249L	ENSP00000320279:V249L	V	-	1	0	EPM2A	145990496	1.000000	0.71417	0.746000	0.31095	0.343000	0.28985	7.487000	0.81328	2.704000	0.92352	0.557000	0.71058	GTG		PASS	0.632	EPM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042564.1			10	39	10	39	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146755509	146755509	+	Silent	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr6:146755509C>A	ENST00000282753.1	+	8	3397	c.3162C>A	c.(3160-3162)ggC>ggA	p.G1054G	GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000361719.2_Silent_p.G1054G			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1054					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.G1054G(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TGCTGGCAGGCCCCGGTGGTC	0.667																																						uc010khw.1																			1	Substitution - coding silent(1)		lung(1)	lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(3160-3162)GGC>GGA		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						20.0	25.0	24.0					6																	146755509		2195	4291	6486	SO:0001819	synonymous_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755509C>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3162C>A	6.37:g.146755509C>A						GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	p.G1054G	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3632	+		Ovarian(120;0.0387)	1054			Cytoplasmic (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	c.3162C>A	CCDS5209.1																																																																																				PASS	0.667	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		11	40	11	40	---	---	---	---
RAB32	10981	broad.mit.edu	37	6	146870741	146870741	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr6:146870741C>T	ENST00000367495.3	+	2	571	c.392C>T	c.(391-393)cCa>cTa	p.P131L		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	131					antigen processing and presentation (GO:0019882)|endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)	p.P131L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		GTTCATCTTCCAAATGGCAGC	0.433																																						uc003qln.1																			1	Substitution - Missense(1)		lung(1)		0						c.(391-393)CCA>CTA		RAB32, member RAS oncogene family							108.0	101.0	104.0					6																	146870741		2203	4300	6503	SO:0001583	missense	10981				protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding	g.chr6:146870741C>T	U71127	CCDS5210.1	6q24.2	2010-08-20			ENSG00000118508	ENSG00000118508		"""RAB, member RAS oncogene"", ""A-kinase anchor proteins"""	9772	protein-coding gene	gene with protein product		612906					Standard	NM_006834		Approved		uc003qln.1	Q13637	OTTHUMG00000015755	ENST00000367495.3:c.392C>T	6.37:g.146870741C>T	ENSP00000356465:p.Pro131Leu						p.P131L	NM_006834	NP_006825	Q13637	RAB32_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)	2	572	+		Ovarian(120;0.142)	131						Missense_Mutation	SNP	ENST00000367495.3	37	c.392C>T	CCDS5210.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529482	0.64860	.	.	ENSG00000118508	ENST00000367495	T	0.73258	-0.73	5.5	4.61	0.57282	Small GTP-binding protein domain (1);	0.104620	0.64402	D	0.000003	T	0.67915	0.2944	M	0.80183	2.485	0.80722	D	1	B	0.25719	0.132	B	0.35899	0.213	T	0.72567	-0.4254	10	0.87932	D	0	-5.1822	15.4633	0.75377	0.1399:0.8601:0.0:0.0	.	131	Q13637	RAB32_HUMAN	L	131	ENSP00000356465:P131L	ENSP00000356465:P131L	P	+	2	0	RAB32	146912434	0.998000	0.40836	1.000000	0.80357	0.987000	0.75469	3.675000	0.54605	1.276000	0.44395	0.591000	0.81541	CCA		PASS	0.433	RAB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042579.1	NM_006834		24	121	24	121	---	---	---	---
LPA	4018	broad.mit.edu	37	6	160998304	160998304	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr6:160998304C>A	ENST00000316300.5	-	28	4539	c.4495G>T	c.(4495-4497)Gtc>Ttc	p.V1499F	LPA_ENST00000447678.1_Missense_Mutation_p.V1499F			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4007	Kringle 14. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.V1499F(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CAATCCTGGACCACAGGGCTT	0.428																																						uc003qtl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|pancreas(1)	6						c.(4495-4497)GTC>TTC		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						106.0	112.0	110.0					6																	160998304		2192	4298	6490	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160998304C>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4495G>T	6.37:g.160998304C>A	ENSP00000321334:p.Val1499Phe						p.V1499F	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	29	4615	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4007			Kringle 36.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.4495G>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	c	6.795	0.515763	0.12944	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.63096	-0.02;-0.02	2.39	0.378	0.16204	Kringle (1);Kringle-like fold (1);	.	.	.	.	T	0.56702	0.2003	M	0.80746	2.51	0.23879	N	0.996584	P	0.41188	0.741	P	0.53861	0.736	T	0.54616	-0.8267	9	0.62326	D	0.03	.	3.0456	0.06152	0.0:0.5207:0.2952:0.1841	.	4007	P08519	APOA_HUMAN	F	1499	ENSP00000321334:V1499F;ENSP00000395608:V1499F	ENSP00000321334:V1499F	V	-	1	0	LPA	160918294	0.789000	0.28775	0.997000	0.53966	0.315000	0.28087	0.242000	0.18087	0.289000	0.22422	0.195000	0.17529	GTC		PASS	0.428	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		21	146	21	146	---	---	---	---
PLG	5340	broad.mit.edu	37	6	161139397	161139397	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr6:161139397G>C	ENST00000308192.9	+	8	922	c.859G>C	c.(859-861)Gtg>Ctg	p.V287L		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	287	Kringle 3. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.V287L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCGCGGGAATGTGGCTGTTAC	0.512																																						uc003qtm.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(859-861)GTG>CTG		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						143.0	135.0	138.0					6																	161139397		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161139397G>C	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.859G>C	6.37:g.161139397G>C	ENSP00000308938:p.Val287Leu						p.V287L	NM_000301	NP_000292	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	8	922	+			287			Kringle 3.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.859G>C	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	G	9.705	1.155464	0.21454	.	.	ENSG00000122194	ENST00000308192	T	0.62639	0.01	5.3	3.11	0.35812	Kringle (4);Kringle-like fold (1);	0.367562	0.16933	U	0.193579	T	0.41994	0.1183	M	0.79343	2.45	0.35322	D	0.784826	B	0.02656	0.0	B	0.08055	0.003	T	0.46062	-0.9218	10	0.46703	T	0.11	.	4.8318	0.13445	0.4044:0.0:0.5956:0.0	.	287	P00747	PLMN_HUMAN	L	287	ENSP00000308938:V287L	ENSP00000308938:V287L	V	+	1	0	PLG	161059387	0.983000	0.35010	0.933000	0.37362	0.017000	0.09413	2.279000	0.43435	1.363000	0.46019	0.655000	0.94253	GTG		PASS	0.512	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		33	151	33	151	---	---	---	---
GLCCI1	113263	broad.mit.edu	37	7	8125922	8125922	+	Silent	SNP	A	A	T	rs376472624		TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr7:8125922A>T	ENST00000223145.5	+	8	1955	c.1398A>T	c.(1396-1398)ctA>ctT	p.L466L		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	466						cytoplasm (GO:0005737)		p.L466L(1)		endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		TAAAACTTCTAGGCCCCCTCT	0.507																																						uc003srk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1396-1398)CTA>CTT		glucocorticoid induced transcript 1		A		0,4406		0,0,2203	187.0	204.0	198.0		1398	-1.2	1.0	7		198	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GLCCI1	NM_138426.2		0,1,6502	TT,TA,AA		0.0116,0.0,0.0077		466/548	8125922	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	113263							g.chr7:8125922A>T	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1398A>T	7.37:g.8125922A>T							p.L466L	NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	8	1957	+		Ovarian(82;0.0608)	466					A4D103|Q96FD0	Silent	SNP	ENST00000223145.5	37	c.1398A>T	CCDS34601.1																																																																																				PASS	0.507	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426		139	498	139	498	---	---	---	---
MACC1	346389	broad.mit.edu	37	7	20198137	20198137	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr7:20198137A>G	ENST00000400331.5	-	5	2155	c.1847T>C	c.(1846-1848)gTg>gCg	p.V616A	MACC1_ENST00000589011.1_Missense_Mutation_p.V616A|MACC1_ENST00000332878.4_Missense_Mutation_p.V616A	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	616	SH3.				positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V616A(1)		endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CTTTGAAATCACCTTGACATT	0.363																																						uc003sus.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1846-1848)GTG>GCG		putative binding protein 7a5							150.0	149.0	150.0					7																	20198137		2203	4300	6503	SO:0001583	missense	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20198137A>G		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.1847T>C	7.37:g.20198137A>G	ENSP00000383185:p.Val616Ala					MACC1_uc010kug.2_Missense_Mutation_p.V616A	p.V616A	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN			5	2156	-			616			SH3.		A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	c.1847T>C	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	A	15.31	2.794968	0.50208	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.09445	2.98;2.98	5.75	5.75	0.90469	Src homology-3 domain (1);Variant SH3 (1);	0.212508	0.46442	D	0.000298	T	0.17492	0.0420	M	0.71581	2.175	0.39113	D	0.961505	P	0.40578	0.722	B	0.38803	0.282	T	0.02244	-1.1189	10	0.87932	D	0	-1.517	16.0436	0.80701	1.0:0.0:0.0:0.0	.	616	Q6ZN28	MACC1_HUMAN	A	616	ENSP00000383185:V616A;ENSP00000328410:V616A	ENSP00000328410:V616A	V	-	2	0	MACC1	20164662	1.000000	0.71417	0.673000	0.29887	0.702000	0.40608	7.327000	0.79147	2.188000	0.69820	0.533000	0.62120	GTG		PASS	0.363	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		99	322	99	322	---	---	---	---
EVX1	2128	broad.mit.edu	37	7	27282757	27282757	+	Silent	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr7:27282757G>T	ENST00000496902.4	+	1	594	c.108G>T	c.(106-108)ccG>ccT	p.P36P	EVX1-AS_ENST00000519050.1_RNA|RP1-170O19.17_ENST00000523608.2_lincRNA|EVX1-AS_ENST00000517726.1_RNA|EVX1-AS_ENST00000519218.1_RNA|EVX1_ENST00000222761.3_Silent_p.P36P|EVX1_ENST00000535619.1_5'Flank			P49640	EVX1_HUMAN	even-skipped homeobox 1	36					embryo development ending in birth or egg hatching (GO:0009792)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P36P(1)		kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						GCCCGCTGCCGGAGCCGCCCG	0.682																																						uc003szd.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(106-108)CCG>CCT		even-skipped homeobox 1							22.0	25.0	24.0					7																	27282757		2203	4300	6503	SO:0001819	synonymous_variant	2128					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27282757G>T		CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038		"""Homeoboxes / ANTP class : HOXL subclass"""	3506	protein-coding gene	gene with protein product		142996	"""eve, even-skipped homeobox homolog 1 (Drosophila)"""			1684419	Standard	XM_005249640		Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.108G>T	7.37:g.27282757G>T						EVX1_uc011jzn.1_5'UTR|EVX1_uc010kuy.1_Silent_p.P36P	p.P36P	NM_001989	NP_001980	P49640	EVX1_HUMAN			1	594	+			36					A4D199|B4DQJ0	Silent	SNP	ENST00000496902.4	37	c.108G>T	CCDS5413.1																																																																																				PASS	0.682	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358750.3			5	8	5	8	---	---	---	---
ADCYAP1R1	117	broad.mit.edu	37	7	31125012	31125012	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr7:31125012G>T	ENST00000304166.4	+	9	913	c.624G>T	c.(622-624)tgG>tgT	p.W208C	ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.W208C|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.W187C|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.W208C	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	208					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)	p.W208C(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TCAAAGACTGGATTCTGTATG	0.547																																					Ovarian(44;225 1186 2158 11092)	uc003tca.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(622-624)TGG>TGT		adenylate cyclase activating polypeptide 1							187.0	149.0	162.0					7																	31125012		2203	4300	6503	SO:0001583	missense	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31125012G>T		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.624G>T	7.37:g.31125012G>T	ENSP00000306620:p.Trp208Cys					ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.W187C|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.W208C|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.W208C|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.W208C|ADCYAP1R1_uc003tcf.1_5'Flank	p.W208C	NM_001118	NP_001109	P41586	PACR_HUMAN			9	847	+			208			Extracellular (Potential).		A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.624G>T	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115531	0.37339	.	.	ENSG00000078549	ENST00000304166;ENST00000409363;ENST00000396211;ENST00000409489	T;T;T;T	0.36878	1.24;1.24;1.23;1.23	5.7	5.7	0.88788	GPCR, family 2-like (1);	0.181255	0.47093	D	0.000242	T	0.39009	0.1062	N	0.20986	0.625	0.58432	D	0.999993	B;P;D;P;P	0.55800	0.013;0.944;0.973;0.917;0.951	B;P;P;P;P	0.59115	0.038;0.852;0.852;0.796;0.796	T	0.10086	-1.0645	10	0.39692	T	0.17	.	10.7252	0.46064	0.0859:0.0:0.9141:0.0	.	208;208;208;187;208	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	C	208;187;208;208	ENSP00000306620:W208C;ENSP00000387335:W187C;ENSP00000379514:W208C;ENSP00000386395:W208C	ENSP00000306620:W208C	W	+	3	0	ADCYAP1R1	31091537	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.945000	0.29056	2.688000	0.91661	0.655000	0.94253	TGG		PASS	0.547	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		47	159	47	159	---	---	---	---
CCDC129	223075	broad.mit.edu	37	7	31682967	31682967	+	Silent	SNP	A	A	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr7:31682967A>G	ENST00000407970.3	+	11	2021	c.1983A>G	c.(1981-1983)gaA>gaG	p.E661E	CCDC129_ENST00000451887.2_Silent_p.E687E|CCDC129_ENST00000409210.1_Silent_p.E569E|CCDC129_ENST00000319386.3_Silent_p.E513E	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	661								p.E513E(1)|p.E661E(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AAACATCTGAAAAGCTCATTC	0.488																																						uc003tcj.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1981-1983)GAA>GAG		coiled-coil domain containing 129							112.0	101.0	104.0					7																	31682967		2203	4300	6503	SO:0001819	synonymous_variant	223075							g.chr7:31682967A>G	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1983A>G	7.37:g.31682967A>G						CCDC129_uc011kad.1_Silent_p.E671E|CCDC129_uc003tci.1_Silent_p.E512E|CCDC129_uc011kae.1_Silent_p.E687E|CCDC129_uc003tck.1_Silent_p.E569E	p.E661E	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			11	2976	+			661					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Silent	SNP	ENST00000407970.3	37	c.1983A>G	CCDS5435.2																																																																																				PASS	0.488	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		24	90	24	90	---	---	---	---
NPSR1	387129	broad.mit.edu	37	7	34851423	34851423	+	Silent	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr7:34851423C>T	ENST00000360581.1	+	4	554	c.426C>T	c.(424-426)ctC>ctT	p.L142L	NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000381539.3_Silent_p.L142L|NPSR1_ENST00000359791.1_Silent_p.L142L|NPSR1_ENST00000531252.1_Silent_p.L131L	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	142						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)	p.L142L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TGGTGTCCCTCAGCATAGACA	0.483																																						uc003teg.1																			2	Substitution - coding silent(2)		lung(2)	skin(3)|pancreas(1)	4						c.(424-426)CTC>CTT		G protein-coupled receptor for asthma	Halothane(DB01159)						259.0	199.0	219.0					7																	34851423		2203	4300	6503	SO:0001819	synonymous_variant	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34851423C>T	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.426C>T	7.37:g.34851423C>T						AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Silent_p.L142L|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_Intron|NPSR1_uc010kwv.1_Intron|NPSR1_uc003tei.1_Silent_p.L142L|NPSR1_uc010kww.1_Silent_p.L131L|NPSR1_uc011kar.1_Intron|AAA1_uc010kwy.2_Intron|AAA1_uc003tek.3_Intron	p.L142L	NM_207172	NP_997055	Q6W5P4	NPSR1_HUMAN			4	554	+			142			Helical; Name=3; (Potential).		A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Silent	SNP	ENST00000360581.1	37	c.426C>T	CCDS5444.1																																																																																				PASS	0.483	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		31	259	31	259	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48349667	48349668	+	Missense_Mutation	DNP	CC	CC	GA			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr7:48349667_48349668CC>GA	ENST00000435803.1	+	24	9469_9470	c.9445_9446CC>GA	c.(9445-9447)CCa>GAa	p.P3149E		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3149					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.P3149Q(1)|p.P3094A(1)|p.P3094E(1)|p.P3149A(1)|p.P3094Q(1)|p.P3149E(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTGTAGCCTGCCAGGGTCAAAA	0.49																																						uc003toq.2																			6	Substitution - Missense(6)		lung(6)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(9445-9447)CCA>GCA|c.(9445-9447)CCA>CAA		ATP binding cassette, sub-family A (ABC1),																																				SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48349667C>G|g.chr7:48349668C>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	Exception_encountered	7.37:g.48349667_48349668delinsGA	ENSP00000411096:p.Pro3149Glu					ABCA13_uc010kys.1_Missense_Mutation_p.P223A|ABCA13_uc003tos.1_5'Flank|ABCA13_uc010kys.1_Missense_Mutation_p.P223Q|ABCA13_uc003tos.1_5'Flank	p.P3149A|p.P3149Q	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			24	9470|9471	+			3149					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.9445C>G|c.9446C>A	CCDS47584.1																																																																																				PASS	0.490	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		80|82	312|313	80	312	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48450198	48450198	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr7:48450198G>T	ENST00000435803.1	+	40	12176	c.12152G>T	c.(12151-12153)aGg>aTg	p.R4051M		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4051	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.R3996M(1)|p.R4051M(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAGCATGGGAGGCTCAGGTGC	0.602																																						uc003toq.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(12151-12153)AGG>ATG		ATP binding cassette, sub-family A (ABC1),							113.0	112.0	113.0					7																	48450198		2080	4215	6295	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48450198G>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.12152G>T	7.37:g.48450198G>T	ENSP00000411096:p.Arg4051Met					ABCA13_uc010kys.1_Missense_Mutation_p.R1125M|ABCA13_uc010kyt.1_RNA	p.R4051M	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			40	12177	+			4051			ABC transporter 1.		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.12152G>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.919712	0.33908	.	.	ENSG00000179869	ENST00000435803	D	0.86030	-2.06	5.33	-1.46	0.08800	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.697300	0.12090	N	0.500527	D	0.91150	0.7213	M	0.93978	3.48	0.09310	N	1	D;D	0.63880	0.989;0.993	P;P	0.59288	0.855;0.804	T	0.82534	-0.0409	10	0.62326	D	0.03	.	6.673	0.23078	0.3831:0.0:0.4959:0.121	.	1753;4051	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	M	4051	ENSP00000411096:R4051M	ENSP00000411096:R4051M	R	+	2	0	ABCA13	48420744	0.000000	0.05858	0.033000	0.17914	0.056000	0.15407	0.167000	0.16602	-0.227000	0.09884	-0.140000	0.14226	AGG		PASS	0.602	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		66	188	66	188	---	---	---	---
ZNF117	51351	broad.mit.edu	37	7	64438970	64438970	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr7:64438970G>A	ENST00000282869.6	-	4	2263	c.979C>T	c.(979-981)Cat>Tat	p.H327Y		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	327					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.H327Y(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TCTCCAGTATGAATTTTTTTA	0.353																																						uc003ttr.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(979-981)CAT>TAT		zinc finger protein 117							36.0	39.0	38.0					7																	64438970		2117	4250	6367	SO:0001583	missense	51351					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64438970G>A	M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"""Zinc fingers, C2H2-type"""	12897	protein-coding gene	gene with protein product		194624	"""zinc finger protein 117 (HPF9)"""			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.979C>T	7.37:g.64438970G>A	ENSP00000282869:p.His327Tyr						p.H327Y	NM_015852	NP_056936	Q03924	ZN117_HUMAN			4	2264	-		Lung NSC(55;0.0295)|all_lung(88;0.0691)	327			C2H2-type 8.		Q02313|Q7Z7Q7	Missense_Mutation	SNP	ENST00000282869.6	37	c.979C>T	CCDS43593.1	.	.	.	.	.	.	.	.	.	.	.	14.61	2.585744	0.46110	.	.	ENSG00000152926	ENST00000398695;ENST00000282869	T	0.67523	-0.27	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.72859	0.3513	H	0.94306	3.52	0.36076	D	0.842447	P	0.35527	0.507	B	0.37198	0.243	T	0.78018	-0.2368	9	0.66056	D	0.02	.	7.9936	0.30254	0.0:0.0:1.0:0.0	.	327	Q03924	ZN117_HUMAN	Y	327	ENSP00000282869:H327Y	ENSP00000282869:H327Y	H	-	1	0	ZNF117	64076405	1.000000	0.71417	0.006000	0.13384	0.021000	0.10359	6.606000	0.74159	0.644000	0.30656	0.313000	0.20887	CAT		PASS	0.353	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344863.3	NM_024498		24	171	24	171	---	---	---	---
TYW1	55253	broad.mit.edu	37	7	66483032	66483032	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr7:66483032C>T	ENST00000359626.5	+	6	927	c.763C>T	c.(763-765)Cac>Tac	p.H255Y		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	255					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.H255Y(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CTGTGGCGGCCACTGCAAGAA	0.527																																						uc003tvn.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(763-765)CAC>TAC		radical S-adenosyl methionine and flavodoxin							74.0	69.0	71.0					7																	66483032		2203	4297	6500	SO:0001583	missense	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66483032C>T	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.763C>T	7.37:g.66483032C>T	ENSP00000352645:p.His255Tyr					TYW1_uc010lai.2_RNA	p.H255Y	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN			6	912	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	255					Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	c.763C>T	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098687	0.37048	.	.	ENSG00000198874	ENST00000359626	T	0.17054	2.3	4.03	-4.25	0.03766	.	.	.	.	.	T	0.07908	0.0198	L	0.34521	1.04	0.23063	N	0.998354	P	0.35383	0.498	B	0.27380	0.079	T	0.37709	-0.9694	9	0.06625	T	0.88	.	8.5291	0.33324	0.3662:0.5431:0.0908:0.0	.	255	Q9NV66	TYW1_HUMAN	Y	255	ENSP00000352645:H255Y	ENSP00000352645:H255Y	H	+	1	0	TYW1	66120467	0.947000	0.32204	0.784000	0.31847	0.614000	0.37383	1.868000	0.39509	-0.437000	0.07243	0.313000	0.20887	CAC		PASS	0.527	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		8	32	8	32	---	---	---	---
CCL26	10344	broad.mit.edu	37	7	75401323	75401323	+	Splice_Site	SNP	T	T	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr7:75401323T>A	ENST00000394905.2	-	3	331		c.e3-2		CCL26_ENST00000005180.4_Splice_Site	NM_006072.4	NP_006063.1	Q9Y258	CCL26_HUMAN	chemokine (C-C motif) ligand 26						cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of Rac GTPase activity (GO:0032855)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)	p.?(1)		lung(3)	3						CACTCCCACCTAAAAATCAGG	0.547																																						uc003udt.1																			1	Unknown(1)		lung(1)		0						c.e3-1		chemokine (C-C motif) ligand 26 precursor							82.0	77.0	78.0					7																	75401323		2203	4300	6503	SO:0001630	splice_region_variant	10344				cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity	g.chr7:75401323T>A	AF124601	CCDS5578.1	7q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000006606	ENSG00000006606		"""Chemokine ligands"", ""Endogenous ligands"""	10625	protein-coding gene	gene with protein product	"""macrophage inflammatory protein 4-alpha"", ""small inducible cytokine A26"", ""CC chemokine IMAC"", ""chemokine N1"", ""thymic stroma chemokine-1"", ""eotaxin-3"""	604697	"""small inducible cytokine subfamily A (Cys-Cys), member 26"""	SCYA26		10373330	Standard	NM_006072		Approved	MIP-4alpha, eotaxin-3, IMAC, MIP-4a, TSC-1	uc003udt.1	Q9Y258	OTTHUMG00000130403	ENST00000394905.2:c.74-2A>T	7.37:g.75401323T>A							p.R25_splice	NM_006072	NP_006063	Q9Y258	CCL26_HUMAN			3	182	-								A0N0Q5|Q52LV8	Splice_Site	SNP	ENST00000394905.2	37	c.74_splice	CCDS5578.1	.	.	.	.	.	.	.	.	.	.	T	10.14	1.268112	0.23136	.	.	ENSG00000006606	ENST00000005180;ENST00000394905	.	.	.	3.61	3.61	0.41365	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7798	0.34785	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCL26	75239259	0.795000	0.28851	0.373000	0.26003	0.044000	0.14063	2.651000	0.46674	1.663000	0.50791	0.329000	0.21502	.		PASS	0.547	CCL26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344900.1	NM_006072	Intron	31	83	31	83	---	---	---	---
MAGI2	9863	broad.mit.edu	37	7	78150907	78150907	+	Silent	SNP	A	A	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr7:78150907A>G	ENST00000354212.4	-	4	847	c.594T>C	c.(592-594)aaT>aaC	p.N198N	MAGI2_ENST00000517762.1_5'UTR|MAGI2_ENST00000419488.1_Silent_p.N198N|MAGI2_ENST00000535697.1_Silent_p.N35N|MAGI2_ENST00000522391.1_Silent_p.N198N|MAGI2_ENST00000536571.1_Silent_p.N30N	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	198	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.N198N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGTCTGTTACATTTAACAATA	0.423																																						uc003ugx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(592-594)AAT>AAC		membrane associated guanylate kinase, WW and PDZ							225.0	228.0	227.0					7																	78150907		2203	4300	6503	SO:0001819	synonymous_variant	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:78150907A>G	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.594T>C	7.37:g.78150907A>G						MAGI2_uc003ugy.2_Silent_p.N198N|MAGI2_uc011kgr.1_Silent_p.N30N|MAGI2_uc011kgs.1_Silent_p.N35N	p.N198N	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			4	848	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	198			Guanylate kinase-like.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	37	c.594T>C	CCDS5594.1																																																																																				PASS	0.423	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		123	352	123	352	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88962778	88962778	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr7:88962778G>T	ENST00000333190.4	+	4	1091	c.482G>T	c.(481-483)tGc>tTc	p.C161F		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	161							metal ion binding (GO:0046872)	p.C161F(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAGGTATCATGCATGAAGAGT	0.443										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(481-483)TGC>TTC		zinc finger protein 804B							74.0	73.0	73.0					7																	88962778		2203	4299	6502	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88962778G>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.482G>T	7.37:g.88962778G>T	ENSP00000329638:p.Cys161Phe	HNSCC(36;0.09)					p.C161F	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1020	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		161					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.482G>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	0.877	-0.730043	0.03135	.	.	ENSG00000182348	ENST00000333190	T	0.05258	3.47	5.4	4.44	0.53790	.	0.303895	0.29692	N	0.011454	T	0.08088	0.0202	L	0.39898	1.24	0.21802	N	0.99954	D	0.56521	0.976	P	0.51974	0.686	T	0.24190	-1.0167	10	0.10111	T	0.7	-8.5116	8.0995	0.30848	0.2099:0.0:0.7901:0.0	.	161	A4D1E1	Z804B_HUMAN	F	161	ENSP00000329638:C161F	ENSP00000329638:C161F	C	+	2	0	ZNF804B	88800714	0.055000	0.20627	0.958000	0.39756	0.477000	0.33069	1.144000	0.31565	2.822000	0.97130	0.650000	0.86243	TGC		PASS	0.443	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		33	85	33	85	---	---	---	---
CLDN12	9069	broad.mit.edu	37	7	90042515	90042515	+	Silent	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr7:90042515G>T	ENST00000287916.4	+	3	812	c.525G>T	c.(523-525)gtG>gtT	p.V175V	CLDN12_ENST00000394605.2_Silent_p.V175V|CLDN12_ENST00000535571.1_Silent_p.V175V|CTB-13L3.1_ENST00000480135.1_RNA	NM_001185073.2|NM_012129.4	NP_001172002.1|NP_036261.1	P56749	CLD12_HUMAN	claudin 12	175					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.V175V(1)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						ACTATGCAGTGTATGTCACTA	0.418																																						uc003ukp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(523-525)GTG>GTT		claudin 12							189.0	181.0	184.0					7																	90042515		2203	4300	6503	SO:0001819	synonymous_variant	9069				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr7:90042515G>T	AJ250713	CCDS5618.1	7q21	2008-07-18			ENSG00000157224	ENSG00000157224		"""Claudins"""	2034	protein-coding gene	gene with protein product		611232					Standard	NM_001185072		Approved		uc003ukr.3	P56749	OTTHUMG00000156612	ENST00000287916.4:c.525G>T	7.37:g.90042515G>T						CLDN12_uc003ukq.2_Silent_p.V175V|CLDN12_uc010leq.2_Silent_p.V175V|CLDN12_uc003ukr.2_Silent_p.V175V|CLDN12_uc003uks.2_Silent_p.V175V	p.V175V	NM_012129	NP_036261	P56749	CLD12_HUMAN			5	1161	+			175			Helical; (Potential).		D6W5Q4|Q7LDZ0	Silent	SNP	ENST00000287916.4	37	c.525G>T	CCDS5618.1																																																																																				PASS	0.418	CLDN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059221.1	NM_012129		125	399	125	399	---	---	---	---
COL1A2	1278	broad.mit.edu	37	7	94056332	94056332	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr7:94056332G>A	ENST00000297268.6	+	47	3589	c.3118G>A	c.(3118-3120)Gat>Aat	p.D1040N		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1040					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.D1040N(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCACCATGGTGATCAAGGTGC	0.438										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	1	Substitution - Missense(1)		lung(1)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(3118-3120)GAT>AAT		alpha 2 type I collagen precursor	Collagenase(DB00048)						93.0	82.0	86.0					7																	94056332		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94056332G>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.3118G>A	7.37:g.94056332G>A	ENSP00000297268:p.Asp1040Asn	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.D1040N	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		47	3589	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		1040					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.3118G>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391587	0.83011	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.94184	-3.37	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.93462	0.7914	L	0.35341	1.055	0.80722	D	1	D	0.53745	0.962	P	0.55222	0.771	D	0.94202	0.7451	10	0.87932	D	0	.	18.9434	0.92612	0.0:0.0:1.0:0.0	.	1040	P08123	CO1A2_HUMAN	N	1040;1041	ENSP00000297268:D1040N	ENSP00000297268:D1040N	D	+	1	0	COL1A2	93894268	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	9.072000	0.93986	2.774000	0.95407	0.655000	0.94253	GAT		PASS	0.438	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		8	85	8	85	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100681403	100681403	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr7:100681403G>C	ENST00000306151.4	+	3	6770	c.6706G>C	c.(6706-6708)Gag>Cag	p.E2236Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2236	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.E2236Q(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)					AGTTACTTCTGAGGCTAGCAC	0.498																																						uc003uxp.1																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(6706-6708)GAG>CAG		mucin 17 precursor							344.0	342.0	342.0					7																	100681403		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681403G>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6706G>C	7.37:g.100681403G>C	ENSP00000302716:p.Glu2236Gln					MUC17_uc010lho.1_RNA	p.E2236Q	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	6759	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2236			Extracellular (Potential).|35.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.6706G>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	2.291	-0.362501	0.05103	.	.	ENSG00000169876	ENST00000306151	T	0.02682	4.2	1.3	-1.66	0.08265	.	.	.	.	.	T	0.01523	0.0049	L	0.29908	0.895	0.09310	N	1	P	0.35982	0.531	B	0.14023	0.01	T	0.49437	-0.8940	9	0.13853	T	0.58	.	5.4667	0.16648	0.3619:0.0:0.6381:0.0	.	2236	Q685J3	MUC17_HUMAN	Q	2236	ENSP00000302716:E2236Q	ENSP00000302716:E2236Q	E	+	1	0	MUC17	100468123	0.080000	0.21391	0.000000	0.03702	0.002000	0.02628	0.654000	0.24918	-0.360000	0.08138	0.134000	0.15878	GAG		PASS	0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		8	688	8	688	---	---	---	---
CDHR3	222256	broad.mit.edu	37	7	105658488	105658488	+	Silent	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr7:105658488C>T	ENST00000317716.9	+	12	1703	c.1623C>T	c.(1621-1623)gcC>gcT	p.A541A	CDHR3_ENST00000478080.1_Silent_p.A453A|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000542731.1_Silent_p.A541A|CDHR3_ENST00000343407.5_Intron	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	541	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A541A(2)		breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GAATCCAGGCCACCAACAACG	0.483																																						uc003vdl.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1621-1623)GCC>GCT		hypothetical protein LOC222256 precursor							53.0	53.0	53.0					7																	105658488		1989	4167	6156	SO:0001819	synonymous_variant	222256				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr7:105658488C>T	AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.1623C>T	7.37:g.105658488C>T						CDHR3_uc003vdk.2_Intron|CDHR3_uc003vdm.3_Silent_p.A528A|CDHR3_uc011klt.1_Silent_p.A453A|CDHR3_uc003vdn.2_Intron	p.A541A	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN			12	1731	+			541			Extracellular (Potential).|Cadherin 5.		Q8TCI7	Silent	SNP	ENST00000317716.9	37	c.1623C>T	CCDS47684.1																																																																																				PASS	0.483	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		12	44	12	44	---	---	---	---
PIK3CG	5294	broad.mit.edu	37	7	106509389	106509389	+	Silent	SNP	C	C	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr7:106509389C>G	ENST00000359195.3	+	2	1693	c.1383C>G	c.(1381-1383)ctC>ctG	p.L461L	PIK3CG_ENST00000440650.2_Silent_p.L461L|PIK3CG_ENST00000496166.1_Silent_p.L461L	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	461	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				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.L461L(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TTCAGCTTCTCTATTATGTGA	0.532																																						uc003vdv.3																			1	Substitution - coding silent(1)		lung(1)	lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(1381-1383)CTC>CTG		phosphoinositide-3-kinase, catalytic, gamma							83.0	84.0	84.0					7																	106509389		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.chr7:106509389C>G		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1383C>G	7.37:g.106509389C>G						PIK3CG_uc003vdu.2_Silent_p.L461L|PIK3CG_uc003vdw.2_Silent_p.L461L	p.L461L	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	1468	+			461					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.1383C>G	CCDS5739.1																																																																																				PASS	0.532	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			49	138	49	138	---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113558590	113558590	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr7:113558590C>A	ENST00000284601.3	-	1	530	c.462G>T	c.(460-462)gaG>gaT	p.E154D		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	154	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.E154D(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATACTAACTTCTCAAAAGAAA	0.353																																						uc010ljy.1																			1	Substitution - Missense(1)		lung(1)	lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(460-462)GAG>GAT		protein phosphatase 1, regulatory (inhibitor)							81.0	81.0	81.0					7																	113558590		2203	4299	6502	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113558590C>A	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.462G>T	7.37:g.113558590C>A	ENSP00000284601:p.Glu154Asp						p.E154D	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			1	493	-			154			CBM21.		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.462G>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575183	0.65878	.	.	ENSG00000154415	ENST00000284601	T	0.67523	-0.27	6.17	5.29	0.74685	Putative phosphatase regulatory subunit (2);	0.195945	0.49305	D	0.000141	T	0.68869	0.3048	L	0.50993	1.605	0.48975	D	0.999735	P	0.52463	0.953	P	0.56278	0.795	T	0.70230	-0.4929	10	0.62326	D	0.03	-0.0861	5.9915	0.19470	0.0:0.759:0.0:0.241	.	154	Q16821	PPR3A_HUMAN	D	154	ENSP00000284601:E154D	ENSP00000284601:E154D	E	-	3	2	PPP1R3A	113345826	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.700000	0.37815	2.941000	0.99782	0.655000	0.94253	GAG		PASS	0.353	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		44	178	44	178	---	---	---	---
COPG2	26958	broad.mit.edu	37	7	130295841	130295841	+	Silent	SNP	T	T	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr7:130295841T>C	ENST00000445977.2	-	9	809	c.720A>G	c.(718-720)ctA>ctG	p.L240L				Q9UBF2	COPG2_HUMAN	coatomer protein complex, subunit gamma 2	240					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)	structural molecule activity (GO:0005198)	p.L240L(1)		large_intestine(1)	1	Melanoma(18;0.0435)					CAGTTTCTTTTAGTAAGCGAC	0.363																																						uc003vqh.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(718-720)CTA>CTG		coatomer protein complex, subunit gamma 2							126.0	119.0	122.0					7																	130295841		1867	4106	5973	SO:0001819	synonymous_variant	26958				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity	g.chr7:130295841T>C	AF157833	CCDS75662.1	7q32	2010-06-22			ENSG00000158623	ENSG00000158623			2237	protein-coding gene	gene with protein product	"""coat protein, nonclathrin, gamma-2-cop"""	604355				10556286, 10995575	Standard	NM_001290033		Approved	2-COP	uc003vqh.1	Q9UBF2	OTTHUMG00000155364	ENST00000445977.2:c.720A>G	7.37:g.130295841T>C							p.L240L	NM_012133	NP_036265	Q9UBF2	COPG2_HUMAN			9	810	-	Melanoma(18;0.0435)		240					A6NH74|Q2NLA0|Q54AC3|Q8WVW8	Silent	SNP	ENST00000445977.2	37	c.720A>G																																																																																					PASS	0.363	COPG2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_012133		65	165	65	165	---	---	---	---
OR2A12	346525	broad.mit.edu	37	7	143792422	143792422	+	Silent	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr7:143792422G>A	ENST00000408949.2	+	1	282	c.222G>A	c.(220-222)tcG>tcA	p.S74S		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S74S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					CCTATGCCTCGAGTACTGTCC	0.453																																						uc011kty.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(220-222)TCG>TCA		olfactory receptor, family 2, subfamily A,							128.0	122.0	124.0					7																	143792422		2064	4226	6290	SO:0001819	synonymous_variant	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143792422G>A		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"""GPCR / Class A : Olfactory receptors"""	15082	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 12 pseudogene"""	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.222G>A	7.37:g.143792422G>A							p.S74S	NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN			1	222	+	Melanoma(164;0.0783)		74			Helical; Name=2; (Potential).		Q6IF43	Silent	SNP	ENST00000408949.2	37	c.222G>A	CCDS43670.1																																																																																				PASS	0.453	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			78	173	78	173	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	147926793	147926793	+	Silent	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr7:147926793C>T	ENST00000361727.3	+	20	3819	c.3303C>T	c.(3301-3303)gaC>gaT	p.D1101D	CNTNAP2_ENST00000538075.1_Silent_p.D160D	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1101	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.D1101D(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACAATATTGACGTAGACCACA	0.433										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(3301-3303)GAC>GAT		cell recognition molecule Caspr2 precursor							121.0	110.0	114.0					7																	147926793		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147926793C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3303C>T	7.37:g.147926793C>T		HNSCC(39;0.1)					p.D1101D	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		20	3819	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	1101			Laminin G-like 4.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.3303C>T	CCDS5889.1																																																																																				PASS	0.433	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			36	87	36	87	---	---	---	---
EZH2	2146	broad.mit.edu	37	7	148506222	148506222	+	Silent	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr7:148506222C>T	ENST00000460911.1	-	19	2209	c.2121G>A	c.(2119-2121)agG>agA	p.R707R	EZH2_ENST00000476773.1_Silent_p.R656R|EZH2_ENST00000320356.2_Silent_p.R712R|EZH2_ENST00000350995.2_Silent_p.R668R|EZH2_ENST00000478654.1_Silent_p.R656R|EZH2_ENST00000541220.1_Silent_p.R656R|EZH2_ENST00000483967.1_Silent_p.R698R			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	707	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.R668R(1)|p.R712R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			AAATACCTATCCTGTGATCAC	0.443			Mis		DLBCL																																	uc003wfd.1				Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		2	Substitution - coding silent(2)		lung(2)	haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183						c.(2119-2121)AGG>AGA		enhancer of zeste 2 isoform a							131.0	119.0	123.0					7																	148506222		2203	4300	6503	SO:0001819	synonymous_variant	2146				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148506222C>T		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.2121G>A	7.37:g.148506222C>T						EZH2_uc011kug.1_Silent_p.R656R|EZH2_uc003wfb.1_Silent_p.R712R|EZH2_uc003wfc.1_Silent_p.R668R|EZH2_uc011kuh.1_Silent_p.R698R	p.R707R	NM_004456	NP_004447	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		19	2287	-	Melanoma(164;0.15)		707			SET.		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Silent	SNP	ENST00000460911.1	37	c.2121G>A	CCDS56516.1																																																																																				PASS	0.443	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		12	237	12	237	---	---	---	---
AOC1	26	broad.mit.edu	37	7	150556093	150556093	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr7:150556093C>A	ENST00000493429.1	+	5	2397	c.1813C>A	c.(1813-1815)Ctg>Atg	p.L605M	AOC1_ENST00000467291.1_Missense_Mutation_p.L605M|AOC1_ENST00000360937.4_Missense_Mutation_p.L605M|AOC1_ENST00000416793.2_Missense_Mutation_p.L605M|AOC1_ENST00000480582.1_3'UTR			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	605					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)	p.L605M(2)								Amiloride(DB00594)	CGACCAGGTGCTGCCCCCAGG	0.652																																						uc003why.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)|skin(2)	6						c.(1813-1815)CTG>ATG		amiloride binding protein 1 precursor	Amiloride(DB00594)|Spermine(DB00127)						11.0	12.0	12.0					7																	150556093		1924	4115	6039	SO:0001583	missense	26				amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	g.chr7:150556093C>A	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1813C>A	7.37:g.150556093C>A	ENSP00000418614:p.Leu605Met					ABP1_uc003whz.1_Missense_Mutation_p.L605M|ABP1_uc003wia.1_Missense_Mutation_p.L605M	p.L605M	NM_001091	NP_001082	P19801	ABP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	4	6031	+	all_neural(206;0.219)		605					C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.1813C>A	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793777	0.70452	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000487631;ENST00000416793;ENST00000437714	T;T;T;T	0.04406	3.63;3.63;3.63;3.63	5.57	4.68	0.58851	Copper amine oxidase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.14960	0.0361	L	0.54965	1.715	0.44085	D	0.996845	D;B	0.76494	0.999;0.239	D;P	0.71870	0.975;0.627	T	0.00055	-1.2178	10	0.62326	D	0.03	-8.7578	11.4591	0.50199	0.0:0.9136:0.0:0.0864	.	605;605	C9J690;P19801	.;ABP1_HUMAN	M	605;605;605;131;605;481	ENSP00000418614:L605M;ENSP00000418328:L605M;ENSP00000354193:L605M;ENSP00000411613:L605M	ENSP00000354193:L605M	L	+	1	2	ABP1	150187026	0.978000	0.34361	1.000000	0.80357	0.997000	0.91878	1.907000	0.39897	2.619000	0.88677	0.561000	0.74099	CTG		PASS	0.652	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		9	25	9	25	---	---	---	---
MSR1	4481	broad.mit.edu	37	8	16026285	16026285	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr8:16026285G>T	ENST00000262101.5	-	4	433	c.312C>A	c.(310-312)agC>agA	p.S104R	MSR1_ENST00000381998.4_Missense_Mutation_p.S104R|MSR1_ENST00000445506.2_Missense_Mutation_p.S122R|MSR1_ENST00000350896.3_Missense_Mutation_p.S104R|MSR1_ENST00000355282.2_Missense_Mutation_p.S104R|MSR1_ENST00000536385.1_Intron			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	104	Spacer. {ECO:0000305}.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)	p.S104R(2)|p.S104S(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TTTCCTCTTCGCTGTCATTTC	0.398																																						uc003wwz.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(2)|large_intestine(1)	ovary(1)	1						c.(310-312)AGC>AGA		macrophage scavenger receptor 1 isoform type 1							228.0	209.0	215.0					8																	16026285		2203	4300	6503	SO:0001583	missense	4481				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:16026285G>T	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.312C>A	8.37:g.16026285G>T	ENSP00000262101:p.Ser104Arg					MSR1_uc010lsu.2_Missense_Mutation_p.S122R|MSR1_uc003wxa.2_Missense_Mutation_p.S104R|MSR1_uc003wxb.2_Missense_Mutation_p.S104R|MSR1_uc011kxz.1_Intron	p.S104R	NM_138715	NP_619729	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	4	510	-			104			Spacer (Probable).|Extracellular (Potential).		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	c.312C>A	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	G	2.827	-0.243610	0.05906	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000381998	T;D;T;T;D	0.90004	-0.52;-2.02;-0.52;-0.52;-2.6	4.91	-3.47	0.04753	.	0.337736	0.25768	N	0.028437	D	0.83811	0.5335	M	0.73598	2.24	0.09310	N	1	B;B;B;B	0.28801	0.042;0.032;0.223;0.042	B;B;B;B	0.29598	0.019;0.043;0.104;0.019	T	0.72683	-0.4219	10	0.35671	T	0.21	.	6.7829	0.23657	0.3448:0.1613:0.4939:0.0	.	122;104;104;104	B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;MSRE_HUMAN	R	104;104;122;104;104	ENSP00000262100:S104R;ENSP00000262101:S104R;ENSP00000405453:S122R;ENSP00000347430:S104R;ENSP00000371428:S104R	ENSP00000262101:S104R	S	-	3	2	MSR1	16070656	0.000000	0.05858	0.653000	0.29593	0.002000	0.02628	-1.325000	0.02687	-0.225000	0.09913	-2.137000	0.00340	AGC		PASS	0.398	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			97	220	97	220	---	---	---	---
CLVS1	157807	broad.mit.edu	37	8	62212824	62212824	+	Silent	SNP	C	C	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr8:62212824C>G	ENST00000519846.1	+	3	910	c.438C>G	c.(436-438)gcC>gcG	p.A146A	RP11-787D18.1_ENST00000521801.1_RNA|CLVS1_ENST00000325897.4_Silent_p.A146A|CLVS1_ENST00000518592.1_Intron|RP11-787D18.1_ENST00000518064.1_RNA			Q8IUQ0	CLVS1_HUMAN	clavesin 1	146	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.A146A(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TGTTTGCAGCCAATTGGGATC	0.448																																						uc003xuh.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(1)	5						c.(436-438)GCC>GCG		retinaldehyde binding protein 1-like 1							29.0	30.0	30.0					8																	62212824		2202	4298	6500	SO:0001819	synonymous_variant	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62212824C>G	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.438C>G	8.37:g.62212824C>G						CLVS1_uc003xug.2_Silent_p.A146A|CLVS1_uc003xui.2_Intron|CLVS1_uc010lyp.2_Silent_p.A146A	p.A146A	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN			2	762	+			146			CRAL-TRIO.		B2R7M5|C8UZT3|Q8NB32	Silent	SNP	ENST00000519846.1	37	c.438C>G	CCDS6176.1																																																																																				PASS	0.448	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		29	75	29	75	---	---	---	---
PREX2	80243	broad.mit.edu	37	8	68931877	68931877	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr8:68931877C>T	ENST00000288368.4	+	3	584	c.307C>T	c.(307-309)Caa>Taa	p.Q103*	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	103	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.Q103*(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TAATGCTCAACAAGAAGTGGG	0.353																																						uc003xxv.1																			2	Substitution - Nonsense(2)		lung(2)	skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(307-309)CAA>TAA		DEP domain containing 2 isoform a							102.0	110.0	108.0					8																	68931877		2203	4300	6503	SO:0001587	stop_gained	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68931877C>T	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.307C>T	8.37:g.68931877C>T	ENSP00000288368:p.Gln103*					PREX2_uc003xxu.1_Nonsense_Mutation_p.Q103*|PREX2_uc011lez.1_Intron	p.Q103*	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			3	334	+			103			DH.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Nonsense_Mutation	SNP	ENST00000288368.4	37	c.307C>T	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	38	6.771115	0.97825	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	.	.	.	5.81	5.81	0.92471	.	0.196555	0.45867	D	0.000339	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	18.8358	0.92162	0.0:1.0:0.0:0.0	.	.	.	.	X	103	.	ENSP00000288368:Q103X	Q	+	1	0	PREX2	69094431	1.000000	0.71417	0.974000	0.42286	0.562000	0.35680	7.258000	0.78371	2.737000	0.93849	0.650000	0.86243	CAA		PASS	0.353	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		22	112	22	112	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77765850	77765850	+	Silent	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr8:77765850G>A	ENST00000521891.2	+	10	7141	c.6693G>A	c.(6691-6693)acG>acA	p.T2231T	ZFHX4_ENST00000455469.2_Silent_p.T2186T|ZFHX4_ENST00000518282.1_Silent_p.T2205T|ZFHX4_ENST00000050961.6_Silent_p.T2186T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2186					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.T2215T(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTTCTAGAACGAGATTTACTG	0.383										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(6556-6558)ACG>ACA		zinc finger homeodomain 4							70.0	67.0	68.0					8																	77765850		1887	4097	5984	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77765850G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.6693G>A	8.37:g.77765850G>A		HNSCC(33;0.089)				ZFHX4_uc003yau.1_Silent_p.T2231T|ZFHX4_uc003yaw.1_Silent_p.T2186T	p.T2186T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	6945	+			2186			Homeobox 2.		G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.6558G>A	CCDS47878.2																																																																																				PASS	0.383	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		21	98	21	98	---	---	---	---
UQCRB	7381	broad.mit.edu	37	8	97243321	97243321	+	Missense_Mutation	SNP	G	G	A	rs199583530	byFrequency	TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr8:97243321G>A	ENST00000287022.5	-	4	401	c.298C>T	c.(298-300)Cgg>Tgg	p.R100W	UQCRB_ENST00000517523.1_3'UTR|UQCRB_ENST00000518406.1_3'UTR	NM_001199975.2|NM_006294.4	NP_001186904.1|NP_006285.1	P14927	QCR7_HUMAN	ubiquinol-cytochrome c reductase binding protein	100					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)		p.R100W(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10	Breast(36;5.16e-05)					TTTCTTTCCCGAATAACCTCT	0.338													G|||	2	0.000399361	0.0	0.0	5008	,	,		17530	0.001		0.001	False		,,,				2504	0.0					uc003yhq.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(298-300)CGG>TGG		ubiquinol-cytochrome c reductase binding							80.0	91.0	87.0					8																	97243321		2203	4293	6496	SO:0001583	missense	7381				aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial respiratory chain	ubiquinol-cytochrome-c reductase activity	g.chr8:97243321G>A	X13585	CCDS6269.1, CCDS59107.1	8q22	2011-07-04			ENSG00000156467	ENSG00000156467		"""Mitochondrial respiratory chain complex / Complex III"""	12582	protein-coding gene	gene with protein product	"""ubiquinol-cytochrome c reductase, complex III subunit VI"", ""cytochrome b-c1 complex subunit 7"""	191330		UQBP		2167087, 2543413, 3056408	Standard	NM_006294		Approved	QP-C, QCR7, UQCR6	uc022ayx.1	P14927	OTTHUMG00000164711	ENST00000287022.5:c.298C>T	8.37:g.97243321G>A	ENSP00000287022:p.Arg100Trp					UQCRB_uc011lgt.1_RNA|UQCRB_uc010mbc.2_RNA	p.R100W	NM_006294	NP_006285	P14927	QCR7_HUMAN			4	402	-	Breast(36;5.16e-05)		100					E5RJU0|Q6FGD1	Missense_Mutation	SNP	ENST00000287022.5	37	c.298C>T	CCDS6269.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.87	3.496108	0.64186	.	.	ENSG00000156467	ENST00000287022	T	0.49720	0.77	5.73	4.82	0.62117	.	0.052737	0.85682	N	0.000000	T	0.68229	0.2978	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.67803	-0.5576	10	0.37606	T	0.19	-5.6669	15.1848	0.72993	0.0:0.1396:0.8604:0.0	.	100	P14927	QCR7_HUMAN	W	100	ENSP00000287022:R100W	ENSP00000287022:R100W	R	-	1	2	UQCRB	97312497	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.865000	0.87049	2.705000	0.92388	0.655000	0.94253	CGG		PASS	0.338	UQCRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379863.1	NM_006294		156	195	156	195	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100866426	100866426	+	Silent	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr8:100866426G>A	ENST00000358544.2	+	56	10995	c.10884G>A	c.(10882-10884)gcG>gcA	p.A3628A	VPS13B_ENST00000357162.2_Silent_p.A3603A|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3628					protein transport (GO:0015031)			p.A3603A(1)|p.A3628A(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCACCACTGCGAGGCAGCTTG	0.562																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(10882-10884)GCG>GCA		vacuolar protein sorting 13B isoform 5							99.0	79.0	86.0					8																	100866426		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100866426G>A	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.10884G>A	8.37:g.100866426G>A						VPS13B_uc003yiw.2_Silent_p.A3603A	p.A3628A	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		56	10995	+	Breast(36;3.73e-07)		3628					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.10884G>A	CCDS6280.1																																																																																				PASS	0.562	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		14	139	14	139	---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	105161076	105161076	+	Splice_Site	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr8:105161076G>T	ENST00000436393.2	+	23	3629	c.3388G>T	c.(3388-3390)Gaa>Taa	p.E1130*	RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000262231.10_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1174					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAGCCAAACGGGTAGGAATTT	0.408										HNSCC(12;0.0054)																												uc003yls.2																			0				ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(3388-3390)GAA>TAA		regulating synaptic membrane exocytosis 2							126.0	120.0	122.0					8																	105161076		876	1991	2867	SO:0001630	splice_region_variant	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105161076G>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3388+1G>T	8.37:g.105161076G>T		HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Nonsense_Mutation_p.E1119*|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron	p.E1130*	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		23	3629	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Nonsense_Mutation	SNP	ENST00000436393.2	37	c.3388G>T		.	.	.	.	.	.	.	.	.	.	G	43	10.160423	0.99350	.	.	ENSG00000176406	ENST00000408894;ENST00000436393	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.8262	0.96618	0.0:0.0:1.0:0.0	.	.	.	.	X	1119;1130	.	ENSP00000386228:E1119X	E	+	1	0	RIMS2	105230252	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.792000	0.99085	2.676000	0.91093	0.655000	0.94253	GAA		PASS	0.408	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	Nonsense_Mutation	26	252	26	252	---	---	---	---
ZFPM2	23414	broad.mit.edu	37	8	106814808	106814808	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr8:106814808G>T	ENST00000407775.2	+	8	2748	c.2498G>T	c.(2497-2499)aGc>aTc	p.S833I	RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S564I|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S701I|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S701I|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	833	Interaction with CTBP2. {ECO:0000305}.				blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S833I(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ATAGATCTCAGCAAAAAGTGT	0.458																																						uc003ymd.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)	5						c.(2497-2499)AGC>ATC		zinc finger protein, multitype 2							48.0	43.0	45.0					8																	106814808		1950	4167	6117	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106814808G>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2498G>T	8.37:g.106814808G>T	ENSP00000384179:p.Ser833Ile					ZFPM2_uc011lhs.1_Missense_Mutation_p.S564I	p.S833I	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2521	+			833			Interaction with CTBP2 (Probable).		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.2498G>T	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682037	0.68042	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.34859	1.34;1.46;1.46;2.66	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.61813	0.2377	M	0.68593	2.085	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.62029	-0.6940	10	0.87932	D	0	.	20.1802	0.98196	0.0:0.0:1.0:0.0	.	833	Q8WW38	FOG2_HUMAN	I	833;701;701;564	ENSP00000384179:S833I;ENSP00000430757:S701I;ENSP00000428720:S701I;ENSP00000367733:S564I	ENSP00000367733:S564I	S	+	2	0	ZFPM2	106883984	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.777000	0.95525	0.655000	0.94253	AGC		PASS	0.458	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			7	63	7	63	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110401328	110401328	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr8:110401328A>T	ENST00000378402.5	+	8	748	c.644A>T	c.(643-645)cAt>cTt	p.H215L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	215	IPT/TIG 2.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.H215L(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAACTGGATCATCCAAATGGA	0.313										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(643-645)CAT>CTT		fibrocystin L precursor							183.0	175.0	178.0					8																	110401328		1830	4079	5909	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110401328A>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.644A>T	8.37:g.110401328A>T	ENSP00000367655:p.His215Leu	HNSCC(38;0.096)					p.H215L	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		8	748	+			215			Extracellular (Potential).|IPT/TIG 2.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.644A>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	9.092	1.002039	0.19121	.	.	ENSG00000205038	ENST00000378402	T	0.58506	0.33	5.4	4.24	0.50183	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.392904	0.26109	N	0.026291	T	0.53094	0.1775	L	0.59436	1.845	0.21147	N	0.999777	P	0.41748	0.761	B	0.43082	0.407	T	0.47262	-0.9131	10	0.39692	T	0.17	.	6.9987	0.24797	0.8226:0.0:0.1774:0.0	.	215	Q86WI1	PKHL1_HUMAN	L	215	ENSP00000367655:H215L	ENSP00000367655:H215L	H	+	2	0	PKHD1L1	110470504	0.328000	0.24687	0.338000	0.25549	0.157000	0.22087	1.418000	0.34782	0.888000	0.36160	0.459000	0.35465	CAT		PASS	0.313	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		157	170	157	170	---	---	---	---
KLHL38	340359	broad.mit.edu	37	8	124658216	124658216	+	Silent	SNP	T	T	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr8:124658216T>C	ENST00000325995.7	-	3	1532	c.1509A>G	c.(1507-1509)aaA>aaG	p.K503K	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	503								p.K503K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TGTCCGCACATTTGACAAATT	0.517																																						uc003yqs.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1507-1509)AAA>AAG		kelch-like 38							81.0	86.0	84.0					8																	124658216		2077	4229	6306	SO:0001819	synonymous_variant	340359							g.chr8:124658216T>C		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.1509A>G	8.37:g.124658216T>C							p.K503K	NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN			3	1533	-			503			Kelch 5.		A0PK12	Silent	SNP	ENST00000325995.7	37	c.1509A>G	CCDS43766.1																																																																																				PASS	0.517	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			26	175	26	175	---	---	---	---
OC90	729330	broad.mit.edu	37	8	133044300	133044300	+	Splice_Site	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr8:133044300C>A	ENST00000443356.2	-	13	994		c.e13-1		OC90_ENST00000603859.1_Splice_Site|OC90_ENST00000262283.5_Splice_Site|OC90_ENST00000254627.3_Splice_Site			Q02509	OC90_HUMAN	otoconin 90						lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.?(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CTGTCACAGGCTGAAAGGAAC	0.547																																						uc003ytg.2																			2	Unknown(2)		lung(2)	ovary(2)|skin(1)	3						c.e11-1		otoconin 90							107.0	104.0	105.0					8																	133044300		2067	4227	6294	SO:0001630	splice_region_variant	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133044300C>A	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.908-1G>T	8.37:g.133044300C>A						OC90_uc011lix.1_Splice_Site_p.A287_splice	p.A287_splice	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		11	860	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)							B4DNG8	Splice_Site	SNP	ENST00000443356.2	37	c.860_splice		.	.	.	.	.	.	.	.	.	.	C	14.72	2.620647	0.46736	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8623	0.92278	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RP11-240B13.2;OC90	133113482	1.000000	0.71417	0.992000	0.48379	0.290000	0.27261	5.772000	0.68889	2.793000	0.96121	0.655000	0.94253	.		PASS	0.547	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399	Intron	16	166	16	166	---	---	---	---
EPPK1	83481	broad.mit.edu	37	8	144947018	144947018	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr8:144947018T>C	ENST00000525985.1	-	2	475	c.404A>G	c.(403-405)cAg>cGg	p.Q135R				P58107	EPIPL_HUMAN	epiplakin 1	135						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.Q135R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCGATGGCCTGAAAGAGGGC	0.677																																						uc003zaa.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(403-405)CAG>CGG		epiplakin 1							24.0	28.0	26.0					8																	144947018		1995	4149	6144	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144947018T>C	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.404A>G	8.37:g.144947018T>C	ENSP00000436337:p.Gln135Arg						p.Q135R	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	417	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		135			Plectin 3.		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.404A>G		.	.	.	.	.	.	.	.	.	.	T	15.08	2.728026	0.48833	.	.	ENSG00000227184	ENST00000525985	T	0.70399	-0.48	4.44	4.44	0.53790	.	.	.	.	.	T	0.77738	0.4175	L	0.52905	1.665	0.30818	N	0.738054	D	0.69078	0.997	P	0.60789	0.879	T	0.77316	-0.2633	9	0.87932	D	0	.	11.6794	0.51448	0.0:0.0:0.0:1.0	.	135	E9PPU0	.	R	135	ENSP00000436337:Q135R	ENSP00000436337:Q135R	Q	-	2	0	EPPK1	145019006	1.000000	0.71417	1.000000	0.80357	0.401000	0.30781	4.803000	0.62546	1.867000	0.54127	0.334000	0.21626	CAG		PASS	0.677	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		3	80	3	80	---	---	---	---
SPATA31E1	286234	broad.mit.edu	37	9	90498077	90498077	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr9:90498077C>A	ENST00000325643.5	+	1	337	c.271C>A	c.(271-273)Ccc>Acc	p.P91T		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	91					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.P91T(1)									CAGTGACCCACCCTCACCCCC	0.572																																						uc004app.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(271-273)CCC>ACC		chromosome 9 open reading frame 79							39.0	36.0	37.0					9																	90498077		2203	4300	6503	SO:0001583	missense	286234					integral to membrane		g.chr9:90498077C>A	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.271C>A	9.37:g.90498077C>A	ENSP00000322640:p.Pro91Thr					C9orf79_uc004apo.1_Intron	p.P91T	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			1	306	+			91					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.271C>A	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	.	0.014	-1.574036	0.00887	.	.	ENSG00000177992	ENST00000325643	T	0.03580	3.88	2.06	-1.41	0.08941	.	.	.	.	.	T	0.03520	0.0101	L	0.42245	1.32	0.09310	N	1	B	0.23990	0.095	B	0.28232	0.087	T	0.46978	-0.9152	9	0.22706	T	0.39	.	5.366	0.16113	0.0:0.4492:0.0:0.5508	.	91	Q6ZUB1	CI079_HUMAN	T	91	ENSP00000322640:P91T	ENSP00000322640:P91T	P	+	1	0	C9orf79	89687897	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.148000	0.10219	-0.378000	0.07918	0.508000	0.49915	CCC		PASS	0.572	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		6	18	6	18	---	---	---	---
OR13C2	392376	broad.mit.edu	37	9	107367467	107367467	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr9:107367467A>T	ENST00000542196.1	-	1	484	c.442T>A	c.(442-444)Tcc>Acc	p.S148T		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S148T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						ATGATCCAGGACCCAGCTGCC	0.458																																						uc011lvq.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(442-444)TCC>ACC		olfactory receptor, family 13, subfamily C,							81.0	107.0	98.0					9																	107367467		2203	4300	6503	SO:0001583	missense	392376				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107367467A>T		CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"""GPCR / Class A : Olfactory receptors"""	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.442T>A	9.37:g.107367467A>T	ENSP00000438815:p.Ser148Thr						p.S148T	NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN			1	442	-			148			Helical; Name=4; (Potential).		B9EGV8|Q6IF54	Missense_Mutation	SNP	ENST00000542196.1	37	c.442T>A	CCDS35092.1	.	.	.	.	.	.	.	.	.	.	A	14.48	2.547133	0.45383	.	.	ENSG00000257019	ENST00000542196	T	0.37915	1.17	3.72	3.72	0.42706	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36066	U	0.002818	T	0.44244	0.1284	L	0.54965	1.715	0.09310	N	1	P	0.50369	0.934	P	0.53760	0.734	T	0.26710	-1.0095	10	0.54805	T	0.06	.	10.4084	0.44278	1.0:0.0:0.0:0.0	.	148	Q8NGS9	O13C2_HUMAN	T	148	ENSP00000438815:S148T	ENSP00000438815:S148T	S	-	1	0	OR13C2	106407288	0.012000	0.17670	0.440000	0.26846	0.750000	0.42670	2.023000	0.41040	1.559000	0.49555	0.379000	0.24179	TCC		PASS	0.458	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481		65	106	65	106	---	---	---	---
ADAMTS13	11093	broad.mit.edu	37	9	136298499	136298499	+	Splice_Site	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr9:136298499G>T	ENST00000371929.3	+	10	1538	c.1094G>T	c.(1093-1095)tGg>tTg	p.W365L	ADAMTS13_ENST00000536611.1_Splice_Site_p.W37L|ADAMTS13_ENST00000371916.1_Splice_Site_p.G265C|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000355699.2_Splice_Site_p.W365L|ADAMTS13_ENST00000356589.2_Splice_Site_p.W334L	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	365	Disintegrin.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.W365L(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCCTTGCAGTGGTGCTCCAAG	0.632																																						uc004cdv.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6						c.(1093-1095)TGG>TTG		ADAM metallopeptidase with thrombospondin type 1							89.0	87.0	87.0					9																	136298499		2203	4300	6503	SO:0001630	splice_region_variant	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136298499G>T	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.1093-1G>T	9.37:g.136298499G>T						ADAMTS13_uc004cdp.3_Intron|ADAMTS13_uc004cdt.1_Missense_Mutation_p.W365L|ADAMTS13_uc004cdu.1_Missense_Mutation_p.W334L|ADAMTS13_uc004cdw.3_Missense_Mutation_p.W365L|ADAMTS13_uc004cdx.3_Missense_Mutation_p.W334L|ADAMTS13_uc004cdy.1_RNA|ADAMTS13_uc004cdz.3_Missense_Mutation_p.W35L|ADAMTS13_uc004cds.1_Intron|ADAMTS13_uc004cdr.1_RNA	p.W365L	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	10	1538	+			365			Cysteine-rich.|Disintegrin.		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	c.1094G>T	CCDS6970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.74|10.74	1.435508|1.435508	0.25813|0.25813	.|.	.|.	ENSG00000160323|ENSG00000160323	ENST00000371916;ENST00000338351|ENST00000371929;ENST00000355699;ENST00000356589;ENST00000536611	D|T;T;T;T	0.81908|0.72505	-1.55|-0.66;-0.63;-0.57;-0.05	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	.|.	.|.	.|.	.|.	D|D	0.84224|0.84224	0.5425|0.5425	M|M	0.78223|0.78223	2.4|2.4	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.994;1.0;1.0	.|P;D;D	.|0.72338	.|0.814;0.961;0.977	D|D	0.86147|0.86147	0.1585|0.1585	7|9	0.25106|0.66056	T|D	0.35|0.02	.|.	17.6243|17.6243	0.88090|0.88090	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|365;334;365	.|Q76LX8;Q76LX8-3;Q76LX8-2	.|ATS13_HUMAN;.;.	C|L	265;135|365;365;334;37	ENSP00000360984:G265C|ENSP00000360997:W365L;ENSP00000347927:W365L;ENSP00000348997:W334L;ENSP00000444504:W37L	ENSP00000345120:G135C|ENSP00000347927:W365L	G|W	+|+	1|2	0|0	ADAMTS13|ADAMTS13	135288320|135288320	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.191000|0.191000	0.23601|0.23601	8.855000|8.855000	0.92236|0.92236	2.477000|2.477000	0.83638|0.83638	0.455000|0.455000	0.32223|0.32223	GGT|TGG		PASS	0.632	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025	Missense_Mutation	27	107	27	107	---	---	---	---
PMPCA	23203	broad.mit.edu	37	9	139311537	139311537	+	Silent	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr9:139311537G>A	ENST00000371717.3	+	7	777	c.768G>A	c.(766-768)gtG>gtA	p.V256V	PMPCA_ENST00000399219.3_Silent_p.V125V|PMPCA_ENST00000462616.1_3'UTR	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	256					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.V256V(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		TGGCCGGCGTGGGCGTGGAGC	0.612																																						uc004chl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(766-768)GTG>GTA		peptidase (mitochondrial processing) alpha							58.0	45.0	50.0					9																	139311537		2203	4300	6503	SO:0001819	synonymous_variant	23203				proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr9:139311537G>A	D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"""inositol polyphosphate-5-phosphatase, 72 kD"""	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.768G>A	9.37:g.139311537G>A						PMPCA_uc010nbl.2_Silent_p.V156V|PMPCA_uc011mdz.1_Silent_p.V125V|PMPCA_uc004chm.1_Silent_p.V6V|PMPCA_uc004chn.1_5'Flank	p.V256V	NM_015160	NP_055975	Q10713	MPPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)	7	773	+		Myeloproliferative disorder(178;0.0821)	256					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Silent	SNP	ENST00000371717.3	37	c.768G>A	CCDS35180.1																																																																																				PASS	0.612	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1	NM_015160		17	42	17	42	---	---	---	---
SFMBT2	57713	broad.mit.edu	37	10	7214090	7214091	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr10:7214090_7214091CC>AA	ENST00000361972.4	-	19	2271_2272	c.2181_2182GG>TT	c.(2179-2184)atGGac>atTTac	p.727_728MD>IY	SFMBT2_ENST00000397167.1_Missense_Mutation_p.727_728MD>IY	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	727					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.M727I(1)|p.D728Y(1)|p.M727_D728>IY(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GTGTCATCGTCCATGGCGTCAG	0.688																																						uc009xio.1																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						c.(2182-2184)GAC>TAC|c.(2179-2181)ATG>ATT		Scm-like with four mbt domains 2																																				SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7214090C>A|g.chr10:7214091C>A	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.2181_2182delinsAA	10.37:g.7214090_7214091delinsAA	ENSP00000355109:p.M727_D728delinsIY					SFMBT2_uc001ijn.1_Missense_Mutation_p.D728Y|SFMBT2_uc010qay.1_Missense_Mutation_p.D563Y|SFMBT2_uc001ijn.1_Missense_Mutation_p.M727I|SFMBT2_uc010qay.1_Missense_Mutation_p.M562I	p.D728Y|p.M727I	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN			19	2273|2272	-			728|727					A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.2182G>T|c.2181G>T	CCDS31138.1																																																																																				PASS	0.688	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		6	20	6	20	---	---	---	---
TAF3	83860	broad.mit.edu	37	10	7866291	7866291	+	Silent	SNP	A	A	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr10:7866291A>T	ENST00000344293.5	+	2	383	c.177A>T	c.(175-177)acA>acT	p.T59T		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	59					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)	p.T59T(1)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						ATGGCCGAACAGACCCAATTT	0.353																																						uc010qbd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(175-177)ACA>ACT		RNA polymerase II transcription factor TAFII140							146.0	130.0	135.0					10																	7866291		1857	4097	5954	SO:0001819	synonymous_variant	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:7866291A>T	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.177A>T	10.37:g.7866291A>T							p.T59T	NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN			2	177	+			59					Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Silent	SNP	ENST00000344293.5	37	c.177A>T	CCDS41487.1																																																																																				PASS	0.353	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		57	224	57	224	---	---	---	---
MCM10	55388	broad.mit.edu	37	10	13251236	13251236	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr10:13251236G>T	ENST00000484800.2	+	20	2657	c.2554G>T	c.(2554-2556)Ggt>Tgt	p.G852C	MCM10_ENST00000378714.3_Missense_Mutation_p.G851C|MCM10_ENST00000378694.1_3'UTR			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	852					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.G852C(1)		central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						GGAAAAGACTGGTCCAAAGAT	0.368																																						uc001ima.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2554-2556)GGT>TGT		minichromosome maintenance complex component 10							94.0	94.0	94.0					10																	13251236		2203	4300	6503	SO:0001583	missense	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13251236G>T	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.2554G>T	10.37:g.13251236G>T	ENSP00000418268:p.Gly852Cys					MCM10_uc001imb.2_Missense_Mutation_p.G851C|MCM10_uc001imc.2_3'UTR	p.G852C	NM_182751	NP_877428	Q7L590	MCM10_HUMAN			20	2655	+			852					A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	ENST00000484800.2	37	c.2554G>T	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684631	0.88639	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800	T;T	0.35605	1.3;1.3	5.38	5.38	0.77491	Replication factor Mcm10 (1);	0.000000	0.85682	D	0.000000	T	0.64692	0.2621	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68981	-0.5266	10	0.72032	D	0.01	-18.2381	18.7533	0.91823	0.0:0.0:1.0:0.0	.	851;852	Q7L590-2;Q7L590	.;MCM10_HUMAN	C	851;852;852	ENSP00000367986:G851C;ENSP00000418268:G852C	ENSP00000354945:G852C	G	+	1	0	MCM10	13291242	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.366000	0.97143	2.512000	0.84698	0.561000	0.74099	GGT		PASS	0.368	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		39	117	39	117	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16981140	16981140	+	Missense_Mutation	SNP	C	C	G	rs561534882		TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr10:16981140C>G	ENST00000377833.4	-	38	5620	c.5555G>C	c.(5554-5556)gGc>gCc	p.G1852A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1852	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.G1852A(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATTATCATTGCCAAATACTAG	0.388																																						uc001ioo.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(5554-5556)GGC>GCC		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						102.0	93.0	96.0					10																	16981140		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16981140C>G	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5555G>C	10.37:g.16981140C>G	ENSP00000367064:p.Gly1852Ala						p.G1852A	NM_001081	NP_001072	O60494	CUBN_HUMAN			38	5607	-			1852			CUB 13.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.5555G>C	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301434	0.81136	.	.	ENSG00000107611	ENST00000377833	T	0.76968	-1.06	5.12	5.12	0.69794	CUB (2);	0.000000	0.45126	D	0.000384	D	0.87665	0.6234	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84208	0.0454	10	0.13108	T	0.6	.	18.9012	0.92443	0.0:1.0:0.0:0.0	.	1852	O60494	CUBN_HUMAN	A	1852	ENSP00000367064:G1852A	ENSP00000367064:G1852A	G	-	2	0	CUBN	17021146	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	5.462000	0.66707	2.541000	0.85698	0.585000	0.79938	GGC		PASS	0.388	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		30	110	30	110	---	---	---	---
CACNB2	783	broad.mit.edu	37	10	18789804	18789804	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr10:18789804C>T	ENST00000324631.7	+	5	580	c.520C>T	c.(520-522)Cca>Tca	p.P174S	CACNB2_ENST00000377315.4_Missense_Mutation_p.P126S|CACNB2_ENST00000352115.6_Missense_Mutation_p.P174S|CACNB2_ENST00000282343.8_Missense_Mutation_p.P146S|CACNB2_ENST00000377329.4_Missense_Mutation_p.P120S|CACNB2_ENST00000377331.2_Missense_Mutation_p.P146S|CACNB2_ENST00000396576.2_Missense_Mutation_p.P119S|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000377319.3_Missense_Mutation_p.P119S	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	174	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)	p.P120S(1)|p.P174S(1)|p.P119S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGGATTCATTCCAAGCCCAGT	0.408																																						uc001ipr.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(1)|central_nervous_system(1)|skin(1)	3						c.(520-522)CCA>TCA		calcium channel, voltage-dependent, beta 2	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						104.0	95.0	98.0					10																	18789804		2203	4300	6503	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18789804C>T	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.520C>T	10.37:g.18789804C>T	ENSP00000320025:p.Pro174Ser					CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Missense_Mutation_p.P174S|CACNB2_uc001ipt.2_Missense_Mutation_p.P174S|CACNB2_uc010qcl.1_RNA|CACNB2_uc001ipu.2_Missense_Mutation_p.P146S|CACNB2_uc001ipv.2_Missense_Mutation_p.P146S|CACNB2_uc009xka.1_Missense_Mutation_p.P146S|CACNB2_uc001ipw.2_Missense_Mutation_p.P119S|CACNB2_uc001ipx.2_Missense_Mutation_p.P119S|CACNB2_uc009xkb.1_Missense_Mutation_p.P120S|CACNB2_uc010qcm.1_Missense_Mutation_p.P120S|CACNB2_uc001ipz.2_Missense_Mutation_p.P120S|CACNB2_uc001ipy.2_Missense_Mutation_p.P120S|CACNB2_uc010qcn.1_Missense_Mutation_p.P126S|CACNB2_uc010qco.1_Missense_Mutation_p.P126S|CACNB2_uc001iqa.2_Missense_Mutation_p.P126S	p.P174S	NM_201596	NP_963890	Q08289	CACB2_HUMAN			5	580	+			174			SH3.		A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.520C>T	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	C	34	5.316612	0.95682	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;D;D;D;D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22;-4.22;-4.22;-4.22;-4.22	5.88	5.88	0.94601	Src homology-3 domain (3);	0.000000	0.85682	D	0.000000	D	0.99130	0.9700	H	0.96748	3.875	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.996;0.999;0.986;0.999;0.999;1.0;0.999;0.999;0.999;0.999;0.999;0.999;1.0;0.999	D	0.98997	1.0810	10	0.87932	D	0	-16.6518	20.2187	0.98312	0.0:1.0:0.0:0.0	.	126;126;120;120;146;126;120;120;130;119;146;146;174;174;174	B7Z1U5;B7Z2U3;Q5QJ99;Q6TME0;Q5QJA0;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	S	174;174;146;146;119;119;120;126	ENSP00000320025:P174S;ENSP00000344474:P174S;ENSP00000282343:P146S;ENSP00000366548:P146S;ENSP00000379821:P119S;ENSP00000366536:P119S;ENSP00000366546:P120S;ENSP00000366532:P126S	ENSP00000282343:P146S	P	+	1	0	CACNB2	18829810	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.794000	0.85869	2.780000	0.95670	0.655000	0.94253	CCA		PASS	0.408	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		12	111	12	111	---	---	---	---
GAD2	2572	broad.mit.edu	37	10	26559634	26559634	+	Silent	SNP	C	C	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr10:26559634C>G	ENST00000376261.3	+	10	1544	c.1041C>G	c.(1039-1041)ctC>ctG	p.L347L	GAD2_ENST00000259271.3_Silent_p.L347L	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	347					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.L347L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTGACCCCCTCTTAGCTGTCG	0.488																																						uc001isp.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1039-1041)CTC>CTG		glutamate decarboxylase 2	L-Glutamic Acid(DB00142)						161.0	155.0	157.0					10																	26559634		2203	4300	6503	SO:0001819	synonymous_variant	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26559634C>G	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1041C>G	10.37:g.26559634C>G						GAD2_uc001isq.2_Silent_p.L347L	p.L347L	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN			10	1544	+			347					Q9UD87	Silent	SNP	ENST00000376261.3	37	c.1041C>G	CCDS7149.1																																																																																				PASS	0.488	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		32	311	32	311	---	---	---	---
C10orf71	118461	broad.mit.edu	37	10	50530680	50530680	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr10:50530680C>G	ENST00000374144.3	+	3	378	c.90C>G	c.(88-90)agC>agG	p.S30R	C10orf71_ENST00000323868.4_Missense_Mutation_p.S30R			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	30								p.S30R(2)		endometrium(1)	1						GGGAGGTGAGCAGCCTAACAG	0.557																																						uc010qgp.1																			2	Substitution - Missense(2)		lung(2)		0						c.(88-90)AGC>AGG		hypothetical protein LOC118461 isoform 2							40.0	44.0	43.0					10																	50530680		2160	4249	6409	SO:0001583	missense	118461							g.chr10:50530680C>G	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.90C>G	10.37:g.50530680C>G	ENSP00000363259:p.Ser30Arg						p.S30R	NM_199459	NP_955629	Q711Q0	CJ071_HUMAN			3	429	+			30					A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.90C>G	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969156	0.74131	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.18338	2.22;3.36	5.13	4.23	0.50019	.	0.000000	0.64402	D	0.000009	T	0.37732	0.1014	M	0.68952	2.095	0.46609	D	0.999127	D	0.89917	1.0	D	0.87578	0.998	T	0.14699	-1.0463	10	0.87932	D	0	.	10.6827	0.45823	0.0:0.8453:0.0:0.1547	.	30	Q711Q0-3	.	R	30	ENSP00000318713:S30R;ENSP00000363259:S30R	ENSP00000318713:S30R	S	+	3	2	C10orf71	50200686	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.679000	0.54634	1.165000	0.42670	0.557000	0.71058	AGC		PASS	0.557	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		10	20	10	20	---	---	---	---
OIT3	170392	broad.mit.edu	37	10	74684372	74684372	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr10:74684372A>T	ENST00000334011.5	+	7	1555	c.1337A>T	c.(1336-1338)gAg>gTg	p.E446V		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	446	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.E446V(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					AAGATCGACGAGGTCCTGAAA	0.557																																					Colon(7;19 345 13446 17537)	uc001jte.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1336-1338)GAG>GTG		oncoprotein-induced transcript 3 precursor							61.0	53.0	55.0					10																	74684372		2203	4300	6503	SO:0001583	missense	170392					nuclear envelope	calcium ion binding	g.chr10:74684372A>T		CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.1337A>T	10.37:g.74684372A>T	ENSP00000333900:p.Glu446Val					OIT3_uc009xqs.1_Intron	p.E446V	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN			7	1555	+	Prostate(51;0.0198)		446			ZP.		A0AVP3|Q8N1M8	Missense_Mutation	SNP	ENST00000334011.5	37	c.1337A>T	CCDS7318.1	.	.	.	.	.	.	.	.	.	.	a	20.9	4.067333	0.76301	.	.	ENSG00000138315	ENST00000334011	D	0.82344	-1.6	5.59	4.46	0.54185	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.100342	0.41605	D	0.000845	D	0.86932	0.6052	L	0.51422	1.61	0.42403	D	0.992573	D	0.69078	0.997	D	0.65874	0.939	D	0.87098	0.2177	10	0.66056	D	0.02	-16.7247	11.6349	0.51198	0.9304:0.0:0.0696:0.0	.	446	Q8WWZ8	OIT3_HUMAN	V	446	ENSP00000333900:E446V	ENSP00000333900:E446V	E	+	2	0	OIT3	74354378	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.191000	0.77763	0.953000	0.37825	-0.359000	0.07587	GAG		PASS	0.557	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635		7	38	7	38	---	---	---	---
DYDC2	84332	broad.mit.edu	37	10	82122201	82122201	+	Start_Codon_SNP	SNP	T	T	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr10:82122201T>A	ENST00000372199.1	+	4	600	c.2T>A	c.(1-3)aTg>aAg	p.M1K	DYDC2_ENST00000372197.1_Start_Codon_SNP_p.M1K|DYDC2_ENST00000256039.2_Start_Codon_SNP_p.M1K|DYDC2_ENST00000372198.1_Missense_Mutation_p.M15K|DYDC2_ENST00000444807.2_Start_Codon_SNP_p.M1K			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	1								p.M1K(1)		breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			GCTGCCAGGATGGAAACTAAC	0.423																																						uc001kca.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1-3)ATG>AAG		DPY30 domain containing 2							82.0	89.0	87.0					10																	82122201		2203	4300	6503	SO:0001582	initiator_codon_variant	84332						protein binding	g.chr10:82122201T>A	BC018606	CCDS7367.1, CCDS58088.1	10q23.1	2006-06-16			ENSG00000133665	ENSG00000133665			23468	protein-coding gene	gene with protein product						12477932	Standard	NM_032372		Approved	bA36D19.6, MGC16186	uc031pwk.1	Q96IM9	OTTHUMG00000018610	ENST00000372199.1:c.2T>A	10.37:g.82122201T>A	ENSP00000361273:p.Met1Lys					DYDC2_uc001kbz.1_RNA|DYDC2_uc001kcb.1_Missense_Mutation_p.M1K	p.M1K	NM_032372	NP_115748	Q96IM9	DYDC2_HUMAN	Colorectal(32;0.229)		3	382	+			1					D3DWD6|Q5QP07|Q5QP11	Missense_Mutation	SNP	ENST00000372199.1	37	c.2T>A	CCDS7367.1	.	.	.	.	.	.	.	.	.	.	T	18.24	3.581286	0.65992	.	.	ENSG00000133665	ENST00000372199;ENST00000372198;ENST00000372197;ENST00000444807;ENST00000411538;ENST00000256039	T;T;T;T;T	0.64438	-0.1;0.55;-0.1;-0.1;-0.1	5.52	5.52	0.82312	Dpy-30 motif (1);	0.000000	0.64402	D	0.000008	T	0.78168	0.4241	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.80991	-0.1135	9	0.87932	D	0	-27.2207	12.3166	0.54960	0.0:0.0:0.0:1.0	.	1	Q96IM9	DYDC2_HUMAN	K	1;15;1;1;1;1	ENSP00000361273:M1K;ENSP00000361272:M15K;ENSP00000361271:M1K;ENSP00000410285:M1K;ENSP00000256039:M1K	ENSP00000256039:M1K	M	+	2	0	DYDC2	82112181	1.000000	0.71417	0.997000	0.53966	0.528000	0.34623	4.991000	0.63883	2.234000	0.73211	0.533000	0.62120	ATG		PASS	0.423	DYDC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049063.1	NM_032372	Missense_Mutation	23	105	23	105	---	---	---	---
NRG3	10718	broad.mit.edu	37	10	83635523	83635523	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr10:83635523G>A	ENST00000404547.1	+	1	427	c.427G>A	c.(427-429)Ggg>Agg	p.G143R	NRG3_ENST00000404576.2_5'Flank|NRG3_ENST00000372141.2_Missense_Mutation_p.G143R|NRG3_ENST00000372142.2_5'Flank|NRG3_ENST00000556918.1_5'Flank			P56975	NRG3_HUMAN	neuregulin 3	143	Ser/Thr-rich.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.G143R(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		cccctccgccGGGGGTGCCGC	0.697																																						uc001kco.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|breast(1)	6						c.(427-429)GGG>AGG		neuregulin 3 isoform 1							26.0	36.0	33.0					10																	83635523		2196	4297	6493	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:83635523G>A	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.427G>A	10.37:g.83635523G>A	ENSP00000384796:p.Gly143Arg					NRG3_uc010qlz.1_Missense_Mutation_p.G143R|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank	p.G143R	NM_001010848	NP_001010848	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	1	454	+			143			Ser/Thr-rich.|Extracellular (Potential).		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.427G>A	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.912575	0.33721	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287	T;T	0.29397	1.57;1.57	3.23	0.965	0.19661	.	.	.	.	.	T	0.11623	0.0283	N	0.14661	0.345	0.80722	D	1	P;P	0.46656	0.882;0.882	B;B	0.33799	0.17;0.17	T	0.16041	-1.0416	9	0.17369	T	0.5	0.0018	7.0641	0.25141	0.0:0.0:0.51:0.49	.	143;143	B9EGV5;P56975-4	.;.	R	143	ENSP00000361214:G143R;ENSP00000384796:G143R	ENSP00000361214:G143R	G	+	1	0	NRG3	83625503	0.554000	0.26522	0.968000	0.41197	0.587000	0.36485	1.115000	0.31209	0.629000	0.30376	0.478000	0.44815	GGG		PASS	0.697	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		4	15	4	15	---	---	---	---
CYP2C18	1562	broad.mit.edu	37	10	96447970	96447970	+	Silent	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr10:96447970C>T	ENST00000285979.6	+	3	619	c.420C>T	c.(418-420)agC>agT	p.S140S	CYP2C18_ENST00000339022.5_Silent_p.S140S|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	140					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)	p.S140S(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	GGAAGAGGAGCATCGAGGACC	0.468																																						uc001kjv.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(418-420)AGC>AGT		cytochrome P450 family 2 subfamily C polypeptide							125.0	118.0	121.0					10																	96447970		2203	4300	6503	SO:0001819	synonymous_variant	1562				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96447970C>T	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.420C>T	10.37:g.96447970C>T						CYP2C18_uc001kjw.3_Silent_p.S140S|CYP2C19_uc009xus.1_Silent_p.S5S|CYP2C19_uc010qny.1_5'UTR	p.S140S	NM_000772	NP_000763	P33260	CP2CI_HUMAN		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	3	746	+		Colorectal(252;0.09)	140					B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Silent	SNP	ENST00000285979.6	37	c.420C>T	CCDS7435.1																																																																																				PASS	0.468	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		24	101	24	101	---	---	---	---
PNLIPRP3	119548	broad.mit.edu	37	10	118220583	118220583	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr10:118220583T>A	ENST00000369230.3	+	6	817	c.671T>A	c.(670-672)aTc>aAc	p.I224N		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	224					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)	p.I224N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		GCAGCTCGCATCCTCTTTGAG	0.418																																						uc001lcl.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(670-672)ATC>AAC		pancreatic lipase-related protein 3 precursor							145.0	132.0	136.0					10																	118220583		2203	4300	6503	SO:0001583	missense	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118220583T>A	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.671T>A	10.37:g.118220583T>A	ENSP00000358232:p.Ile224Asn						p.I224N	NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	6	772	+			224						Missense_Mutation	SNP	ENST00000369230.3	37	c.671T>A	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.705715	0.89018	.	.	ENSG00000203837	ENST00000369230	D	0.91351	-2.83	4.78	4.78	0.61160	Lipase, N-terminal (1);	1.322720	0.05398	N	0.540149	D	0.88093	0.6344	N	0.25380	0.74	0.09310	N	1	B	0.19073	0.033	B	0.26614	0.071	T	0.76353	-0.2990	10	0.87932	D	0	.	14.4653	0.67480	0.0:0.0:0.0:1.0	.	224	Q17RR3	LIPR3_HUMAN	N	224	ENSP00000358232:I224N	ENSP00000358232:I224N	I	+	2	0	PNLIPRP3	118210573	0.430000	0.25538	0.003000	0.11579	0.940000	0.58332	4.541000	0.60670	2.006000	0.58801	0.482000	0.46254	ATC		PASS	0.418	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		41	184	41	184	---	---	---	---
PDZD8	118987	broad.mit.edu	37	10	119043529	119043529	+	Silent	SNP	A	A	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr10:119043529A>T	ENST00000334464.5	-	5	2954	c.2715T>A	c.(2713-2715)ctT>ctA	p.L905L	PDZD8_ENST00000482496.1_5'Flank	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	905					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.L905L(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CTTCCAGCCTAAGGTTTTTCA	0.433																																						uc001lde.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(2713-2715)CTT>CTA		PDZ domain containing 8							69.0	63.0	65.0					10																	119043529		2203	4300	6503	SO:0001819	synonymous_variant	118987				intracellular signal transduction		metal ion binding	g.chr10:119043529A>T	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.2715T>A	10.37:g.119043529A>T							p.L905L	NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	2914	-		Colorectal(252;0.19)	905					Q86WE0|Q86WE5|Q9UFF1	Silent	SNP	ENST00000334464.5	37	c.2715T>A	CCDS7600.1																																																																																				PASS	0.433	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		33	102	33	102	---	---	---	---
FAM175B	23172	broad.mit.edu	37	10	126505162	126505162	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr10:126505162C>T	ENST00000298492.5	+	3	226	c.181C>T	c.(181-183)Cct>Tct	p.P61S	Y_RNA_ENST00000384763.1_RNA	NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	61	MPN-like.				cellular response to freezing (GO:0071497)	BRISC complex (GO:0070552)|cytoplasm (GO:0005737)	polyubiquitin binding (GO:0031593)	p.P61S(1)		NS(1)	1						TAACCATCAGCCTTGTTCAAA	0.303																																						uc001lib.3																			1	Substitution - Missense(1)		lung(1)		0						c.(181-183)CCT>TCT		hypothetical protein LOC23172							104.0	99.0	101.0					10																	126505162		1817	4079	5896	SO:0001583	missense	23172					BRISC complex	polyubiquitin binding	g.chr10:126505162C>T	D63877	CCDS31308.2	10q26.2	2013-01-24	2008-07-02	2008-07-02	ENSG00000165660	ENSG00000165660			28975	protein-coding gene	gene with protein product	"""Abraxas brother"""	611144	"""KIAA0157"""	KIAA0157		8590280	Standard	NM_032182		Approved	Em:AC068896.4, ABRO1	uc001lib.4	Q15018	OTTHUMG00000019218	ENST00000298492.5:c.181C>T	10.37:g.126505162C>T	ENSP00000298492:p.Pro61Ser						p.P61S	NM_032182	NP_115558	Q15018	F175B_HUMAN			3	226	+			61			MPN-like.		B4DKR2|Q96H11	Missense_Mutation	SNP	ENST00000298492.5	37	c.181C>T	CCDS31308.2	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508880	0.85282	.	.	ENSG00000165660	ENST00000298492	T	0.43294	0.95	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.62889	0.2465	L	0.58583	1.82	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.55891	-0.8069	10	0.34782	T	0.22	-0.6249	19.998	0.97395	0.0:1.0:0.0:0.0	.	61	Q15018	F175B_HUMAN	S	61	ENSP00000298492:P61S	ENSP00000298492:P61S	P	+	1	0	FAM175B	126495152	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.338000	0.79269	2.804000	0.96469	0.462000	0.41574	CCT		PASS	0.303	FAM175B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050891.2	NM_032182		12	122	12	122	---	---	---	---
EDRF1	26098	broad.mit.edu	37	10	127422226	127422226	+	Silent	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr10:127422226G>A	ENST00000356792.4	+	11	1531	c.1299G>A	c.(1297-1299)aaG>aaA	p.K433K	C10orf137_ENST00000337623.3_Silent_p.K399K	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		433					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.K399K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATATAGTGAAGCTCTATGACC	0.373																																						uc001liq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|large_intestine(3)|lung(2)	10						c.(1297-1299)AAG>AAA		erythroid differentiation-related factor 1							101.0	102.0	102.0					10																	127422226		2203	4300	6503	SO:0001819	synonymous_variant	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127422226G>A																												ENST00000356792.4:c.1299G>A	10.37:g.127422226G>A						C10orf137_uc001lin.2_Silent_p.K399K|C10orf137_uc001lio.1_Silent_p.K399K|C10orf137_uc001lip.1_Silent_p.K137K|C10orf137_uc001lir.2_5'Flank	p.K433K	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN			11	1592	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	433					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Silent	SNP	ENST00000356792.4	37	c.1299G>A	CCDS55733.1																																																																																				PASS	0.373	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			35	136	35	136	---	---	---	---
TCERG1L	256536	broad.mit.edu	37	10	132891470	132891470	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr10:132891470C>G	ENST00000368642.4	-	12	1801	c.1716G>C	c.(1714-1716)aaG>aaC	p.K572N	RP11-462G8.3_ENST00000436942.1_RNA	NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	572								p.K531N(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TGTCCCGTTTCTTAAGAATAA	0.468																																						uc001lkp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)	4						c.(1714-1716)AAG>AAC		transcription elongation regulator 1-like							109.0	108.0	108.0					10																	132891470		2203	4300	6503	SO:0001583	missense	256536							g.chr10:132891470C>G	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.1716G>C	10.37:g.132891470C>G	ENSP00000357631:p.Lys572Asn						p.K572N	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)	12	1802	-		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)	572					Q5VWI2|Q86XM8	Missense_Mutation	SNP	ENST00000368642.4	37	c.1716G>C	CCDS7662.2	.	.	.	.	.	.	.	.	.	.	C	16.48	3.136189	0.56936	.	.	ENSG00000176769	ENST00000368642	T	0.26810	1.71	4.82	1.39	0.22231	FF domain (2);	0.110167	0.37530	N	0.002052	T	0.33030	0.0849	L	0.53249	1.67	0.52501	D	0.999957	D	0.71674	0.998	P	0.57425	0.82	T	0.07195	-1.0785	10	0.87932	D	0	-5.3994	5.5477	0.17073	0.0:0.4185:0.0:0.5815	.	572	Q5VWI1	TCRGL_HUMAN	N	572	ENSP00000357631:K572N	ENSP00000357631:K572N	K	-	3	2	TCERG1L	132781460	1.000000	0.71417	0.988000	0.46212	0.985000	0.73830	1.576000	0.36504	0.435000	0.26365	-0.251000	0.11542	AAG		PASS	0.468	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		3	119	3	119	---	---	---	---
PHRF1	57661	broad.mit.edu	37	11	608828	608828	+	Silent	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr11:608828C>T	ENST00000264555.5	+	14	3500	c.3372C>T	c.(3370-3372)tcC>tcT	p.S1124S	PHRF1_ENST00000416188.2_Silent_p.S1123S|PHRF1_ENST00000413872.2_Silent_p.S1122S|PHRF1_ENST00000533464.1_Silent_p.S1120S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1124	Arg-rich.				mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)	p.S1124S(1)|p.S1129S(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GGGAGTGCTCCCCCACCAGCA	0.632																																						uc001lqe.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(3370-3372)TCC>TCT		PHD and ring finger domains 1							24.0	29.0	28.0					11																	608828		2198	4294	6492	SO:0001819	synonymous_variant	57661						RNA polymerase binding|zinc ion binding	g.chr11:608828C>T	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.3372C>T	11.37:g.608828C>T						PHRF1_uc010qwc.1_Silent_p.S1123S|PHRF1_uc010qwd.1_Silent_p.S1122S|PHRF1_uc010qwe.1_Silent_p.S1120S|PHRF1_uc009ybz.1_Silent_p.S914S|PHRF1_uc009yca.1_RNA	p.S1124S	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN			14	3503	+			1124			Arg-rich.		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Silent	SNP	ENST00000264555.5	37	c.3372C>T																																																																																					PASS	0.632	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		5	18	5	18	---	---	---	---
OR52N2	390077	broad.mit.edu	37	11	5841740	5841740	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr11:5841740C>G	ENST00000317037.2	+	1	197	c.175C>G	c.(175-177)Cgg>Ggg	p.R59G	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H53_F64del(1)|p.R59G(1)|p.R59R(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCCTGCACCGGCCCATGTA	0.522																																						uc010qzp.1																			3	Substitution - Missense(1)|Substitution - coding silent(1)|Deletion - In frame(1)	p.H53_F64del(1)	ovary(1)|lung(1)|kidney(1)	ovary(1)|skin(1)	2						c.(175-177)CGG>GGG		olfactory receptor, family 52, subfamily N,							138.0	119.0	125.0					11																	5841740		2201	4296	6497	SO:0001583	missense	390077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5841740C>G	AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988		"""GPCR / Class A : Olfactory receptors"""	15228	protein-coding gene	gene with protein product							Standard	NM_001005174		Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.175C>G	11.37:g.5841740C>G	ENSP00000322801:p.Arg59Gly					TRIM5_uc001mbq.1_Intron	p.R59G	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	175	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	59			Helical; Name=2; (Potential).		Q6IFF9	Missense_Mutation	SNP	ENST00000317037.2	37	c.175C>G	CCDS31399.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.119935	0.37436	.	.	ENSG00000180988	ENST00000317037	T	0.00316	8.13	5.9	-1.41	0.08941	GPCR, rhodopsin-like superfamily (1);	0.259231	0.27881	N	0.017471	T	0.00241	0.0007	L	0.58101	1.795	0.09310	N	1	B	0.30937	0.301	B	0.39339	0.297	T	0.38672	-0.9650	10	0.87932	D	0	.	7.721	0.28731	0.5167:0.3574:0.0:0.1259	.	59	Q8NGI0	O52N2_HUMAN	G	59	ENSP00000322801:R59G	ENSP00000322801:R59G	R	+	1	2	OR52N2	5798316	0.000000	0.05858	0.002000	0.10522	0.709000	0.40893	-2.671000	0.00843	-0.564000	0.06070	-0.127000	0.14921	CGG		PASS	0.522	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401143.1	NM_001005174		50	107	50	107	---	---	---	---
OR2AG2	338755	broad.mit.edu	37	11	6789994	6789994	+	Missense_Mutation	SNP	C	C	A	rs148881109		TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr11:6789994C>A	ENST00000338569.2	-	1	292	c.195G>T	c.(193-195)caG>caT	p.Q65H		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q65H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGAGAGAGAGCTGCCCAAGCA	0.547																																						uc001meq.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(193-195)CAG>CAT		olfactory receptor, family 2, subfamily AG,							142.0	129.0	133.0					11																	6789994		2201	4294	6495	SO:0001583	missense	338755				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6789994C>A	AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"""GPCR / Class A : Olfactory receptors"""	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.195G>T	11.37:g.6789994C>A	ENSP00000342697:p.Gln65His						p.Q65H	NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	195	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	65			Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000338569.2	37	c.195G>T	CCDS31413.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485192	0.26598	.	.	ENSG00000188124	ENST00000338569	T	0.03004	4.08	4.14	1.16	0.20824	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	D	0.000289	T	0.05456	0.0144	N	0.17901	0.54	0.30455	N	0.774905	D	0.89917	1.0	D	0.91635	0.999	T	0.30268	-0.9984	10	0.42905	T	0.14	.	1.4834	0.02441	0.1717:0.4688:0.1671:0.1924	.	65	A6NM03	O2AG2_HUMAN	H	65	ENSP00000342697:Q65H	ENSP00000342697:Q65H	Q	-	3	2	OR2AG2	6746570	0.003000	0.15002	0.443000	0.26883	0.990000	0.78478	-0.591000	0.05753	0.268000	0.21939	0.555000	0.69702	CAG		PASS	0.547	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1	NM_001004490		38	107	38	107	---	---	---	---
ZNF214	7761	broad.mit.edu	37	11	7022255	7022255	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr11:7022255C>A	ENST00000278314.4	-	3	974	c.659G>T	c.(658-660)gGa>gTa	p.G220V	ZNF214_ENST00000536068.1_Missense_Mutation_p.G220V|ZNF214_ENST00000531083.1_5'Flank	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	220					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.G220V(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TTTATTACATCCACAGTACTT	0.398																																					Ovarian(22;251 657 736 21522 46864)	uc001mfa.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(658-660)GGA>GTA		zinc finger protein 214							79.0	78.0	78.0					11																	7022255		2201	4296	6497	SO:0001583	missense	7761				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:7022255C>A	AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.659G>T	11.37:g.7022255C>A	ENSP00000278314:p.Gly220Val					ZNF214_uc010ray.1_Missense_Mutation_p.G220V|ZNF214_uc009yfh.1_Missense_Mutation_p.G220V	p.G220V	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN		Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)	3	962	-			220					B2R8Q1	Missense_Mutation	SNP	ENST00000278314.4	37	c.659G>T	CCDS31418.1	.	.	.	.	.	.	.	.	.	.	C	1.016	-0.686369	0.03328	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.05580	3.42;3.42	4.28	-1.13	0.09775	.	0.940554	0.08775	N	0.895584	T	0.02304	0.0071	N	0.03050	-0.425	0.19300	N	0.999979	B	0.02656	0.0	B	0.04013	0.001	T	0.44436	-0.9328	10	0.56958	D	0.05	.	0.6272	0.00788	0.1742:0.2741:0.171:0.3806	.	220	Q9UL59	ZN214_HUMAN	V	220	ENSP00000278314:G220V;ENSP00000445373:G220V	ENSP00000278314:G220V	G	-	2	0	ZNF214	6978831	0.000000	0.05858	0.181000	0.23098	0.080000	0.17528	-1.826000	0.01705	-0.078000	0.12730	0.650000	0.86243	GGA		PASS	0.398	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1			65	132	65	132	---	---	---	---
KCNA4	3739	broad.mit.edu	37	11	30034013	30034013	+	Nonsense_Mutation	SNP	A	A	T	rs201582811		TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr11:30034013A>T	ENST00000328224.6	-	2	1446	c.213T>A	c.(211-213)tgT>tgA	p.C71*	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	71					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.C71*(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CATGGGAGGTACAGGCCCCGC	0.647																																						uc001msk.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(211-213)TGT>TGA		potassium voltage-gated channel, shaker-related							40.0	42.0	42.0					11																	30034013		1970	4154	6124	SO:0001587	stop_gained	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30034013A>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.213T>A	11.37:g.30034013A>T	ENSP00000328511:p.Cys71*						p.C71*	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	1365	-			71						Nonsense_Mutation	SNP	ENST00000328224.6	37	c.213T>A	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	A	44	11.255736	0.99537	.	.	ENSG00000182255	ENST00000328224	.	.	.	4.75	1.44	0.22558	.	7739.210000	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	5.8635	0.18762	0.2647:0.138:0.5973:0.0	.	.	.	.	X	71	.	ENSP00000328511:C71X	C	-	3	2	KCNA4	29990589	1.000000	0.71417	0.935000	0.37517	0.685000	0.39939	1.023000	0.30065	0.388000	0.25054	-0.344000	0.07964	TGT		PASS	0.647	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		21	43	21	43	---	---	---	---
SLC1A2	6506	broad.mit.edu	37	11	35313935	35313935	+	Silent	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr11:35313935G>A	ENST00000278379.3	-	7	1272	c.990C>T	c.(988-990)atC>atT	p.I330I	SLC1A2_ENST00000395750.1_Silent_p.I321I|SLC1A2_ENST00000395753.1_Silent_p.I321I|SLC1A2_ENST00000606205.1_Silent_p.I330I	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	330					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.I330I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			AGGGGAGAAAGATGCCCCCGT	0.483																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)	uc001mwd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(988-990)ATC>ATT		excitatory amino acid transporter 2	L-Glutamic Acid(DB00142)						195.0	180.0	185.0					11																	35313935		2202	4298	6500	SO:0001819	synonymous_variant	6506				D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr11:35313935G>A	AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"""Solute carriers"""	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.990C>T	11.37:g.35313935G>A						SLC1A2_uc001mwe.2_Silent_p.I321I|SLC1A2_uc010rev.1_Silent_p.I330I	p.I330I	NM_004171	NP_004162	P43004	EAA2_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		7	1582	-	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	330			Helical; (Potential).		B4DQE9|Q14417|Q541G6|U3KQQ4	Silent	SNP	ENST00000278379.3	37	c.990C>T	CCDS31459.1	.	.	.	.	.	.	.	.	.	.	G	9.330	1.060383	0.19987	.	.	ENSG00000110436	ENST00000531628	.	.	.	5.19	3.32	0.38043	.	.	.	.	.	T	0.55449	0.1921	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48714	-0.9011	4	.	.	.	-14.668	6.8632	0.24077	0.1467:0.0:0.7126:0.1407	.	.	.	.	F	48	.	.	S	-	2	0	SLC1A2	35270511	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.834000	0.55798	0.688000	0.31529	0.655000	0.94253	TCT		PASS	0.483	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171		25	150	25	150	---	---	---	---
TTC17	55761	broad.mit.edu	37	11	43411364	43411364	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr11:43411364G>A	ENST00000039989.4	+	3	426	c.412G>A	c.(412-414)Gac>Aac	p.D138N	RP11-484D2.4_ENST00000394183.2_RNA|TTC17_ENST00000299240.6_Missense_Mutation_p.D138N	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	138					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.D138N(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GGAGAGCAAAGACATCAGGTA	0.363																																						uc001mxi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(412-414)GAC>AAC		tetratricopeptide repeat domain 17							114.0	113.0	114.0					11																	43411364		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43411364G>A	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.412G>A	11.37:g.43411364G>A	ENSP00000039989:p.Asp138Asn					TTC17_uc001mxh.2_Missense_Mutation_p.D138N|TTC17_uc010rfj.1_Missense_Mutation_p.D81N	p.D138N	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN			3	426	+			138					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.412G>A	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571918	0.28003	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.32023	1.48;1.47	5.02	4.09	0.47781	.	0.134965	0.64402	D	0.000003	T	0.17152	0.0412	N	0.22421	0.69	0.46279	D	0.998962	B;B;B	0.16166	0.009;0.009;0.016	B;B;B	0.17979	0.009;0.006;0.02	T	0.05750	-1.0866	10	0.08599	T	0.76	-12.4355	9.5768	0.39463	0.1574:0.0:0.8426:0.0	.	138;138;138	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	N	138	ENSP00000299240:D138N;ENSP00000039989:D138N	ENSP00000039989:D138N	D	+	1	0	TTC17	43367940	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.826000	0.69293	2.477000	0.83638	0.563000	0.77884	GAC		PASS	0.363	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		41	92	41	92	---	---	---	---
ACCS	84680	broad.mit.edu	37	11	44102761	44102761	+	Silent	SNP	G	G	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr11:44102761G>C	ENST00000263776.8	+	12	1436	c.1002G>C	c.(1000-1002)acG>acC	p.T334T		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	334					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.T334T(1)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GCTTTGGCACGCTGTACACAG	0.622																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	uc009yks.1																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)|lung(1)	4						c.(1000-1002)ACG>ACC		1-aminocyclopropane-1-carboxylate synthase							89.0	83.0	85.0					11																	44102761		2203	4300	6503	SO:0001819	synonymous_variant	84680						1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44102761G>C	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.1002G>C	11.37:g.44102761G>C						EXT2_uc010rfo.1_Intron|ACCS_uc001mxx.2_Silent_p.T334T	p.T334T	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN			12	1146	+			334					B4E219|Q8WUL4|Q96LX5	Silent	SNP	ENST00000263776.8	37	c.1002G>C	CCDS7907.1																																																																																				PASS	0.622	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592		26	73	26	73	---	---	---	---
PRDM11	56981	broad.mit.edu	37	11	45246232	45246232	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr11:45246232C>G	ENST00000530656.1	+	7	1309	c.1309C>G	c.(1309-1311)Cat>Gat	p.H437D	CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000263765.4_Missense_Mutation_p.H437D|PRDM11_ENST00000424263.2_Missense_Mutation_p.H403D			Q9NQV5	PRD11_HUMAN	PR domain containing 11	437							methyltransferase activity (GO:0008168)	p.H437D(1)		endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						ATCTGACCCTCATGAACTTCC	0.527																																					NSCLC(118;1511 1736 6472 36603 43224)	uc001myo.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1309-1311)CAT>GAT		PR domain containing 11							212.0	218.0	216.0					11																	45246232		2203	4299	6502	SO:0001583	missense	56981							g.chr11:45246232C>G	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.1309C>G	11.37:g.45246232C>G	ENSP00000435976:p.His437Asp						p.H437D	NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN			8	1558	+			437					Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	37	c.1309C>G		.	.	.	.	.	.	.	.	.	.	C	10.87	1.474016	0.26423	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000424263	T;T;T	0.22539	1.95;1.95;1.95	5.68	5.68	0.88126	.	0.196121	0.36101	N	0.002799	T	0.16514	0.0397	N	0.24115	0.695	0.25930	N	0.983001	B	0.26547	0.152	B	0.26416	0.069	T	0.13548	-1.0505	10	0.36615	T	0.2	-15.2463	15.2956	0.73906	0.0:0.8606:0.1394:0.0	.	437	Q9NQV5	PRD11_HUMAN	D	437;437;403	ENSP00000263765:H437D;ENSP00000435976:H437D;ENSP00000394314:H403D	ENSP00000263765:H437D	H	+	1	0	PRDM11	45202808	0.741000	0.28217	0.942000	0.38095	0.937000	0.57800	3.316000	0.51960	2.689000	0.91719	0.655000	0.94253	CAT		PASS	0.527	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229		62	352	62	352	---	---	---	---
OR4A16	81327	broad.mit.edu	37	11	55111022	55111022	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr11:55111022A>T	ENST00000314721.2	+	1	396	c.346A>T	c.(346-348)Atg>Ttg	p.M116L		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M116L(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTTGGTGGTGATGGCCTATGA	0.463																																						uc010rie.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|pancreas(1)	3						c.(346-348)ATG>TTG		olfactory receptor, family 4, subfamily A,							194.0	179.0	184.0					11																	55111022		2201	4296	6497	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111022A>T	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.346A>T	11.37:g.55111022A>T	ENSP00000325128:p.Met116Leu						p.M116L	NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN			1	346	+			116			Helical; Name=3; (Potential).		Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.346A>T	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	a	14.25	2.479132	0.44044	.	.	ENSG00000181961	ENST00000314721	T	0.00892	5.57	2.57	1.36	0.22044	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.03651	0.0104	H	0.96691	3.865	0.27729	N	0.944878	B	0.29212	0.237	B	0.34180	0.177	T	0.04255	-1.0965	9	0.87932	D	0	.	6.7984	0.23738	0.7603:0.2397:0.0:0.0	.	116	Q8NH70	O4A16_HUMAN	L	116	ENSP00000325128:M116L	ENSP00000325128:M116L	M	+	1	0	OR4A16	54867598	1.000000	0.71417	0.958000	0.39756	0.418000	0.31294	5.831000	0.69330	0.207000	0.20607	0.346000	0.21813	ATG		PASS	0.463	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		104	357	104	357	---	---	---	---
OR4C6	219432	broad.mit.edu	37	11	55433006	55433006	+	Missense_Mutation	SNP	G	G	T	rs367948844		TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr11:55433006G>T	ENST00000314259.3	+	1	393	c.364G>T	c.(364-366)Gtg>Ttg	p.V122L		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V122L(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TGACCGCTACGTGGCCATCTG	0.547																																						uc001nht.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(364-366)GTG>TTG		olfactory receptor, family 4, subfamily C,							108.0	99.0	102.0					11																	55433006		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433006G>T	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.364G>T	11.37:g.55433006G>T	ENSP00000324769:p.Val122Leu					OR4C6_uc010rik.1_Missense_Mutation_p.V122L	p.V122L	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	629	+			122			Cytoplasmic (Potential).		B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.364G>T	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219754	0.39201	.	.	ENSG00000181903	ENST00000314259	T	0.12039	2.72	3.77	2.85	0.33270	GPCR, rhodopsin-like superfamily (1);	0.222920	0.22609	N	0.057844	T	0.13798	0.0334	M	0.67569	2.06	0.21627	N	0.999618	B	0.29188	0.236	B	0.28784	0.094	T	0.24476	-1.0159	10	0.72032	D	0.01	.	4.2775	0.10816	0.219:0.1919:0.5891:0.0	.	122	Q8NH72	OR4C6_HUMAN	L	122	ENSP00000324769:V122L	ENSP00000324769:V122L	V	+	1	0	OR4C6	55189582	0.009000	0.17119	0.983000	0.44433	0.942000	0.58702	0.122000	0.15687	0.604000	0.29930	0.536000	0.68110	GTG		PASS	0.547	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		51	170	51	170	---	---	---	---
OR8I2	120586	broad.mit.edu	37	11	55861452	55861452	+	Silent	SNP	C	C	A	rs200261114		TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr11:55861452C>A	ENST00000302124.2	+	1	700	c.669C>A	c.(667-669)gcC>gcA	p.A223A		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A223A(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TCATCTCAGCCATCCTGAGGA	0.468													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20675	0.0		0.0	False		,,,				2504	0.0					uc010rix.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(667-669)GCC>GCA		olfactory receptor, family 8, subfamily I,							141.0	124.0	129.0					11																	55861452		2201	4296	6497	SO:0001819	synonymous_variant	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861452C>A	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.669C>A	11.37:g.55861452C>A							p.A223A	NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN			1	669	+	Esophageal squamous(21;0.00693)		223			Cytoplasmic (Potential).		B2RNN4|Q6IFC0|Q96RC5	Silent	SNP	ENST00000302124.2	37	c.669C>A	CCDS31517.1																																																																																				PASS	0.468	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		61	187	61	187	---	---	---	---
OR5T2	219464	broad.mit.edu	37	11	56000216	56000216	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr11:56000216G>T	ENST00000313264.4	-	1	521	c.446C>A	c.(445-447)aCa>aAa	p.T149K		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T149K(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					AAAGCATTCTGTGGTTCCAAA	0.413																																						uc010rjc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(445-447)ACA>AAA		olfactory receptor, family 5, subfamily T,							171.0	148.0	156.0					11																	56000216		2201	4296	6497	SO:0001583	missense	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56000216G>T	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.446C>A	11.37:g.56000216G>T	ENSP00000323688:p.Thr149Lys						p.T149K	NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN			1	446	-	Esophageal squamous(21;0.00448)		149			Helical; Name=3; (Potential).		B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	c.446C>A	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021956	0.54576	.	.	ENSG00000181718	ENST00000313264	T	0.01745	4.66	5.07	4.15	0.48705	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43260	U	0.000596	T	0.13927	0.0337	H	0.95712	3.71	0.09310	N	1	D	0.71674	0.998	D	0.73380	0.98	T	0.13388	-1.0511	10	0.87932	D	0	.	9.2207	0.37375	0.0779:0.1472:0.7749:0.0	.	149	Q8NGG2	OR5T2_HUMAN	K	149	ENSP00000323688:T149K	ENSP00000323688:T149K	T	-	2	0	OR5T2	55756792	0.145000	0.22656	1.000000	0.80357	0.752000	0.42762	2.339000	0.43965	1.260000	0.44134	0.471000	0.43371	ACA		PASS	0.413	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		70	242	70	242	---	---	---	---
OR9I1	219954	broad.mit.edu	37	11	57886014	57886014	+	Silent	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr11:57886014G>A	ENST00000302610.1	-	1	902	c.903C>T	c.(901-903)ttC>ttT	p.F301F	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F301F(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				CGACCTTTCTGAAGGCGTCTT	0.428																																						uc001nml.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(901-903)TTC>TTT		olfactory receptor, family 9, subfamily I,							126.0	131.0	129.0					11																	57886014		2201	4296	6497	SO:0001819	synonymous_variant	219954				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57886014G>A	AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"""GPCR / Class A : Olfactory receptors"""	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.903C>T	11.37:g.57886014G>A						OR9Q1_uc001nmj.2_Intron	p.F301F	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN			1	903	-		Breast(21;0.0589)	301			Cytoplasmic (Potential).		Q6IFH0|Q96RA8	Silent	SNP	ENST00000302610.1	37	c.903C>T	CCDS31542.1																																																																																				PASS	0.428	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394539.1	NM_001005211		46	357	46	357	---	---	---	---
OR9I1	219954	broad.mit.edu	37	11	57886577	57886577	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr11:57886577G>C	ENST00000302610.1	-	1	339	c.340C>G	c.(340-342)Ctg>Gtg	p.L114V	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L114V(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				ACTGCCAGCAGAAAGCACTCT	0.552																																						uc001nml.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(340-342)CTG>GTG		olfactory receptor, family 9, subfamily I,							66.0	59.0	61.0					11																	57886577		2201	4296	6497	SO:0001583	missense	219954				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57886577G>C	AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"""GPCR / Class A : Olfactory receptors"""	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.340C>G	11.37:g.57886577G>C	ENSP00000302606:p.Leu114Val					OR9Q1_uc001nmj.2_Intron	p.L114V	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN			1	340	-		Breast(21;0.0589)	114			Helical; Name=3; (Potential).		Q6IFH0|Q96RA8	Missense_Mutation	SNP	ENST00000302610.1	37	c.340C>G	CCDS31542.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.787277	0.31593	.	.	ENSG00000172377	ENST00000302610	T	0.00587	6.38	5.06	0.846	0.18955	GPCR, rhodopsin-like superfamily (1);	0.380726	0.19131	N	0.121926	T	0.01189	0.0039	M	0.80422	2.495	0.29396	N	0.862285	P	0.50528	0.936	P	0.47118	0.538	T	0.33240	-0.9876	10	0.56958	D	0.05	-4.6394	8.5139	0.33235	0.0726:0.0:0.4251:0.5023	.	114	Q8NGQ6	OR9I1_HUMAN	V	114	ENSP00000302606:L114V	ENSP00000302606:L114V	L	-	1	2	OR9I1	57643153	0.000000	0.05858	0.998000	0.56505	0.153000	0.21895	-0.885000	0.04161	0.073000	0.16731	-0.363000	0.07495	CTG		PASS	0.552	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394539.1	NM_001005211		8	65	8	65	---	---	---	---
OR9Q2	219957	broad.mit.edu	37	11	57958547	57958548	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr11:57958547_57958548GG>TT	ENST00000311591.3	+	1	642_643	c.585_586GG>TT	c.(583-588)caGGaa>caTTaa	p.195_196QE>H*		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q195_E196>H*(1)|p.Q195H(1)|p.E196*(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				GCTACACTCAGGAAGTGGTGAT	0.45																																						uc010rka.1																			3	Substitution - Missense(1)|Substitution - Nonsense(1)|Complex - compound substitution(1)		lung(3)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(583-585)CAG>CAT|c.(586-588)GAA>TAA		olfactory receptor, family 9, subfamily Q,																																				SO:0001587	stop_gained	219957				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57958547G>T|g.chr11:57958548G>T	AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"""GPCR / Class A : Olfactory receptors"""	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	Exception_encountered	11.37:g.57958547_57958548delinsTT	ENSP00000308714:p.Q195_E196delinsH*						p.Q195H|p.E196*	NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN			1	585|586	+		Breast(21;0.0589)	195|196			Extracellular (Potential).			Missense_Mutation|Nonsense_Mutation	SNP	ENST00000311591.3	37	c.585G>T|c.586G>T	CCDS31544.1																																																																																				PASS	0.450	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283		45	122	45	122	---	---	---	---
OR5B12	390191	broad.mit.edu	37	11	58207079	58207079	+	Silent	SNP	G	G	A	rs374895155		TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr11:58207079G>A	ENST00000302572.2	-	1	567	c.546C>T	c.(544-546)ctC>ctT	p.L182L		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L182L(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGAGAGTCAAGAGAGGAGGAG	0.413																																						uc010rkh.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(544-546)CTC>CTT		olfactory receptor, family 5, subfamily B,							92.0	84.0	86.0					11																	58207079		2201	4295	6496	SO:0001819	synonymous_variant	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58207079G>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.546C>T	11.37:g.58207079G>A							p.L182L	NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN			1	546	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	182			Extracellular (Potential).		B2RNL2|Q6IEV5	Silent	SNP	ENST00000302572.2	37	c.546C>T	CCDS31551.1																																																																																				PASS	0.413	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		13	99	13	99	---	---	---	---
OR5B12	390191	broad.mit.edu	37	11	58207084	58207084	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr11:58207084G>A	ENST00000302572.2	-	1	562	c.541C>T	c.(541-543)Cct>Tct	p.P181S		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P181S(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTCAAGAGAGGAGGAGCATCA	0.408																																						uc010rkh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(541-543)CCT>TCT		olfactory receptor, family 5, subfamily B,							98.0	89.0	92.0					11																	58207084		2201	4295	6496	SO:0001583	missense	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58207084G>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.541C>T	11.37:g.58207084G>A	ENSP00000306657:p.Pro181Ser						p.P181S	NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN			1	541	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	181			Extracellular (Potential).		B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	c.541C>T	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.417752	0.25552	.	.	ENSG00000172362	ENST00000302572	T	0.00202	8.56	4.3	3.38	0.38709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000128	T	0.00356	0.0011	L	0.55017	1.72	0.09310	N	1	D	0.56746	0.977	P	0.62560	0.904	T	0.50550	-0.8815	10	0.72032	D	0.01	-10.8823	11.3509	0.49587	0.0896:0.0:0.9104:0.0	.	181	Q96R08	OR5BC_HUMAN	S	181	ENSP00000306657:P181S	ENSP00000306657:P181S	P	-	1	0	OR5B12	57963660	0.000000	0.05858	0.145000	0.22337	0.356000	0.29392	-0.520000	0.06252	1.154000	0.42482	0.462000	0.41574	CCT		PASS	0.408	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		13	100	13	100	---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61067638	61067638	+	Missense_Mutation	SNP	C	C	A	rs375160067		TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr11:61067638C>A	ENST00000301764.7	-	27	3790	c.3393G>T	c.(3391-3393)aaG>aaT	p.K1131N	DDB1_ENST00000538470.1_Missense_Mutation_p.K178N|DDB1_ENST00000451943.2_Missense_Mutation_p.K118N|DDB1_ENST00000450997.2_Missense_Mutation_p.K442N	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1131	Interaction with CDT1 and CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)	p.K1131N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CCTCCACAACCTTGATGAGGT	0.602								Nucleotide excision repair (NER)																														uc001nrc.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|central_nervous_system(1)	4						c.(3391-3393)AAG>AAT	NER	damage-specific DNA binding protein 1							128.0	89.0	102.0					11																	61067638		2203	4299	6502	SO:0001583	missense	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61067638C>A	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.3393G>T	11.37:g.61067638C>A	ENSP00000301764:p.Lys1131Asn						p.K1131N	NM_001923	NP_001914	Q16531	DDB1_HUMAN			27	3619	-			1131			Interaction with CDT1 and CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	c.3393G>T	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169839	0.78452	.	.	ENSG00000167986	ENST00000301764;ENST00000451943;ENST00000450997;ENST00000538470	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.76	1.73	0.24493	.	0.000000	0.85682	D	0.000000	D	0.84897	0.5574	M	0.82323	2.585	0.80722	D	1	D	0.67145	0.996	D	0.66847	0.947	T	0.81508	-0.0901	10	0.30854	T	0.27	-25.9789	8.9802	0.35961	0.0:0.7034:0.0:0.2966	.	1131	Q16531	DDB1_HUMAN	N	1131;118;442;178	ENSP00000301764:K1131N;ENSP00000399813:K118N;ENSP00000388705:K442N;ENSP00000441522:K178N	ENSP00000301764:K1131N	K	-	3	2	DDB1	60824214	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.708000	0.37899	0.353000	0.24079	0.555000	0.69702	AAG		PASS	0.602	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		13	46	13	46	---	---	---	---
DAGLA	747	broad.mit.edu	37	11	61503805	61503805	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr11:61503805G>T	ENST00000257215.5	+	13	1470	c.1354G>T	c.(1354-1356)Gcc>Tcc	p.A452S		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	452					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.A452S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CCTGTCCCAGGCCTTTGGGCG	0.572																																						uc001nsa.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1354-1356)GCC>TCC		neural stem cell-derived dendrite regulator							112.0	99.0	104.0					11																	61503805		2202	4299	6501	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61503805G>T	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1354G>T	11.37:g.61503805G>T	ENSP00000257215:p.Ala452Ser						p.A452S	NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	13	1465	+			452			Cytoplasmic (Potential).		A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.1354G>T	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548009	0.86022	.	.	ENSG00000134780	ENST00000257215	T	0.31247	1.5	3.71	3.71	0.42584	.	0.000000	0.85682	D	0.000000	T	0.58878	0.2153	M	0.85777	2.775	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.66333	-0.5950	10	0.48119	T	0.1	-33.3763	16.0317	0.80582	0.0:0.0:1.0:0.0	.	452	Q9Y4D2	DGLA_HUMAN	S	452	ENSP00000257215:A452S	ENSP00000257215:A452S	A	+	1	0	DAGLA	61260381	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	8.886000	0.92447	2.076000	0.62316	0.462000	0.41574	GCC		PASS	0.572	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		23	67	23	67	---	---	---	---
RTN3	10313	broad.mit.edu	37	11	63487075	63487075	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr11:63487075G>A	ENST00000377819.5	+	3	1255	c.1101G>A	c.(1099-1101)atG>atA	p.M367I	RTN3_ENST00000341307.2_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.M255I|RTN3_ENST00000339997.4_Missense_Mutation_p.M348I	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	367					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.M348I(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						GACTTGACATGAGTGAATATA	0.373																																						uc001nxq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1099-1101)ATG>ATA		reticulon 3 isoform b							43.0	44.0	44.0					11																	63487075		2201	4296	6497	SO:0001583	missense	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63487075G>A	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.1101G>A	11.37:g.63487075G>A	ENSP00000367050:p.Met367Ile					RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Missense_Mutation_p.M348I|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Missense_Mutation_p.M255I|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	p.M367I	NM_201428	NP_958831	O95197	RTN3_HUMAN			3	1288	+			367					B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	37	c.1101G>A	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.330173	0.00227	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.16597	2.33;2.33;2.33	5.96	0.244	0.15507	.	1.792180	0.02424	N	0.082848	T	0.10423	0.0255	N	0.19112	0.55	0.09310	N	1	B;B;B	0.22480	0.07;0.042;0.07	B;B;B	0.17979	0.02;0.009;0.02	T	0.21586	-1.0241	10	0.15952	T	0.53	7.3899	4.0249	0.09683	0.4237:0.1766:0.3997:0.0	.	255;367;348	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	I	367;348;255	ENSP00000367050:M367I;ENSP00000344106:M348I;ENSP00000442733:M255I	ENSP00000344106:M348I	M	+	3	0	RTN3	63243651	0.129000	0.22400	0.000000	0.03702	0.012000	0.07955	1.113000	0.31184	0.123000	0.18342	0.655000	0.94253	ATG		PASS	0.373	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		7	130	7	130	---	---	---	---
DLG2	1740	broad.mit.edu	37	11	83585513	83585513	+	Silent	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr11:83585513G>T	ENST00000532653.1	-	11	1502	c.1200C>A	c.(1198-1200)acC>acA	p.T400T	DLG2_ENST00000543673.1_Silent_p.T505T|DLG2_ENST00000398309.2_Silent_p.T400T|DLG2_ENST00000418306.2_Silent_p.T297T|DLG2_ENST00000376104.2_Silent_p.T505T|DLG2_ENST00000537455.1_Silent_p.T154T|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000398301.2_Silent_p.T439T|DLG2_ENST00000531015.1_Silent_p.T367T|DLG2_ENST00000280241.8_Silent_p.T439T|DLG2_ENST00000524982.1_Silent_p.T400T|DLG2_ENST00000330014.6_Silent_p.T339T			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.T400T(1)|p.T297T(1)|p.T439T(1)|p.T505T(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GACGAGTTGCGGTGCTATGTT	0.363																																						uc001paj.2																			4	Substitution - coding silent(4)		lung(4)	ovary(3)|pancreas(2)|skin(1)	6						c.(1198-1200)ACC>ACA		chapsyn-110 isoform 2							99.0	99.0	99.0					11																	83585513		1907	4111	6018	SO:0001819	synonymous_variant	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding	g.chr11:83585513G>T	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.1200C>A	11.37:g.83585513G>T						DLG2_uc001pai.2_Silent_p.T297T|DLG2_uc010rsy.1_Silent_p.T367T|DLG2_uc010rsz.1_Silent_p.T400T|DLG2_uc010rta.1_Silent_p.T400T|DLG2_uc001pak.2_Silent_p.T505T|DLG2_uc010rtb.1_Silent_p.T367T|DLG2_uc001pal.1_Silent_p.T400T|DLG2_uc001pam.1_Silent_p.T439T	p.T400T	NM_001364	NP_001355	Q15700	DLG2_HUMAN			11	1503	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	400					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	ENST00000532653.1	37	c.1200C>A																																																																																					PASS	0.363	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		18	57	18	57	---	---	---	---
HEPHL1	341208	broad.mit.edu	37	11	93800830	93800830	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr11:93800830T>A	ENST00000315765.9	+	5	985	c.977T>A	c.(976-978)tTc>tAc	p.F326Y		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	326	Plastocyanin-like 2.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.F327Y(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GTCAACCTGTTCCCAGCCACC	0.453																																						uc001pep.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(976-978)TTC>TAC		hephaestin-like 1 precursor							148.0	146.0	147.0					11																	93800830		1972	4158	6130	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93800830T>A	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.977T>A	11.37:g.93800830T>A	ENSP00000313699:p.Phe326Tyr					uc001pen.1_RNA	p.F326Y	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			5	1134	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	326			Plastocyanin-like 2.|Extracellular (Potential).		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.977T>A	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.516398	0.85495	.	.	ENSG00000181333	ENST00000315765	D	0.99594	-6.25	5.5	5.5	0.81552	Cupredoxin (2);Multicopper oxidase, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.99435	0.9800	M	0.69185	2.1	0.51233	D	0.999912	D	0.89917	1.0	D	0.91635	0.999	D	0.99953	1.1571	10	0.20519	T	0.43	.	15.9025	0.79392	0.0:0.0:0.0:1.0	.	326	Q6MZM0	HPHL1_HUMAN	Y	326	ENSP00000313699:F326Y	ENSP00000313699:F326Y	F	+	2	0	HEPHL1	93440478	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	7.747000	0.85070	2.226000	0.72624	0.459000	0.35465	TTC		PASS	0.453	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		24	224	24	224	---	---	---	---
HEPHL1	341208	broad.mit.edu	37	11	93844934	93844934	+	Silent	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr11:93844934C>A	ENST00000315765.9	+	20	3362	c.3354C>A	c.(3352-3354)atC>atA	p.I1118I		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	1118					copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.I1122I(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CCTTGGTCATCCTTTTCATCA	0.478																																						uc001pep.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(3352-3354)ATC>ATA		hephaestin-like 1 precursor							101.0	101.0	101.0					11																	93844934		1932	4147	6079	SO:0001819	synonymous_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93844934C>A	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.3354C>A	11.37:g.93844934C>A						uc001pen.1_Intron	p.I1118I	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			20	3511	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	1118			Helical; (Potential).		Q3C1W7	Silent	SNP	ENST00000315765.9	37	c.3354C>A	CCDS44710.1																																																																																				PASS	0.478	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		22	188	22	188	---	---	---	---
RNF26	79102	broad.mit.edu	37	11	119206154	119206154	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr11:119206154G>C	ENST00000311413.4	+	1	918	c.322G>C	c.(322-324)Gca>Cca	p.A108P	RP11-334E6.10_ENST00000501918.2_RNA	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	108						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.A108P(1)		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)		CTCTCATGGGGCACTGCGGAG	0.602																																						uc001pwh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(322-324)GCA>CCA		ring finger protein 26							99.0	95.0	96.0					11																	119206154		2199	4295	6494	SO:0001583	missense	79102						zinc ion binding	g.chr11:119206154G>C	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.322G>C	11.37:g.119206154G>C	ENSP00000312439:p.Ala108Pro						p.A108P	NM_032015	NP_114404	Q9BY78	RNF26_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)	1	918	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	108			Leu-rich.		Q542Y8	Missense_Mutation	SNP	ENST00000311413.4	37	c.322G>C	CCDS8419.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.383939	0.61845	.	.	ENSG00000173456	ENST00000311413	T	0.80304	-1.36	5.25	4.31	0.51392	.	0.290613	0.29321	N	0.012499	T	0.72087	0.3417	L	0.47716	1.5	0.32239	N	0.572965	B	0.12630	0.006	B	0.10450	0.005	T	0.70619	-0.4822	10	0.35671	T	0.21	-7.2293	8.2339	0.31614	0.0841:0.1595:0.7564:0.0	.	108	Q9BY78	RNF26_HUMAN	P	108	ENSP00000312439:A108P	ENSP00000312439:A108P	A	+	1	0	RNF26	118711364	1.000000	0.71417	0.992000	0.48379	0.916000	0.54674	3.096000	0.50243	1.168000	0.42723	0.655000	0.94253	GCA		PASS	0.602	RNF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388220.1	NM_032015		26	189	26	189	---	---	---	---
ROBO4	54538	broad.mit.edu	37	11	124757085	124757085	+	Silent	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr11:124757085G>T	ENST00000306534.3	-	15	2708	c.2223C>A	c.(2221-2223)ccC>ccA	p.P741P	ROBO4_ENST00000533054.1_Silent_p.P596P|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	741	Pro/Ser-rich.				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.P741P(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGATGGAGGAGGGAGCCTGTG	0.642																																						uc001qbg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(2221-2223)CCC>CCA		roundabout homolog 4, magic roundabout							71.0	74.0	73.0					11																	124757085		2200	4298	6498	SO:0001819	synonymous_variant	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124757085G>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.2223C>A	11.37:g.124757085G>T						ROBO4_uc010sas.1_Silent_p.P596P|ROBO4_uc001qbh.2_Silent_p.P631P|ROBO4_uc001qbi.2_Silent_p.P299P	p.P741P	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	15	2363	-	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)	741			Pro/Ser-rich.		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Silent	SNP	ENST00000306534.3	37	c.2223C>A	CCDS8455.1																																																																																				PASS	0.642	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		19	106	19	106	---	---	---	---
ROBO4	54538	broad.mit.edu	37	11	124757306	124757306	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr11:124757306G>A	ENST00000306534.3	-	14	2631	c.2146C>T	c.(2146-2148)Cca>Tca	p.P716S	ROBO4_ENST00000533054.1_Missense_Mutation_p.P571S|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	716	Pro/Ser-rich.				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.P716S(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		AGGGGTGCTGGAGGGAGATGA	0.607																																						uc001qbg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2146-2148)CCA>TCA		roundabout homolog 4, magic roundabout							79.0	83.0	82.0					11																	124757306		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124757306G>A	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.2146C>T	11.37:g.124757306G>A	ENSP00000304945:p.Pro716Ser					ROBO4_uc010sas.1_Missense_Mutation_p.P571S|ROBO4_uc001qbh.2_Missense_Mutation_p.P606S|ROBO4_uc001qbi.2_Missense_Mutation_p.P274S	p.P716S	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	14	2286	-	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)	716			Pro/Ser-rich.		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.2146C>T	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	G	5.457	0.269399	0.10349	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.66280	-0.2;0.18	5.15	1.12	0.20585	.	0.225800	0.22988	N	0.053223	T	0.50292	0.1607	L	0.53249	1.67	0.24781	N	0.992817	B;B;B	0.19073	0.011;0.018;0.033	B;B;B	0.17098	0.017;0.016;0.015	T	0.41963	-0.9479	10	0.45353	T	0.12	.	4.9178	0.13854	0.2622:0.1531:0.5847:0.0	.	716;606;716	Q8WZ75-2;Q8WZ75-3;Q8WZ75	.;.;ROBO4_HUMAN	S	716;606;571	ENSP00000304945:P716S;ENSP00000437129:P571S	ENSP00000304945:P716S	P	-	1	0	ROBO4	124262516	0.008000	0.16893	0.154000	0.22540	0.097000	0.18754	-0.553000	0.06012	-0.031000	0.13781	0.558000	0.71614	CCA		PASS	0.607	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		13	107	13	107	---	---	---	---
PRMT8	56341	broad.mit.edu	37	12	3649958	3649958	+	Splice_Site	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr12:3649958G>A	ENST00000382622.3	+	2	651		c.e2+1		PRMT8_ENST00000261252.4_Splice_Site|PRMT8_ENST00000452611.2_Splice_Site	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8						histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			GATCCACGAGGTAAAGTGTCC	0.527																																						uc001qmf.2																			1	Unknown(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.e2+1		HMT1 hnRNP methyltransferase-like 4							112.0	114.0	113.0					12																	3649958		2203	4300	6503	SO:0001630	splice_region_variant	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649958G>A	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.261+1G>A	12.37:g.3649958G>A						PRMT8_uc009zed.2_Splice_Site_p.E78_splice|PRMT8_uc009zee.1_Splice_Site	p.E87_splice	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	628	+								B2RDP0|Q8TBJ8	Splice_Site	SNP	ENST00000382622.3	37	c.261_splice	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317204	0.40996	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	.	.	.	5.74	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7572	0.57341	0.0797:0.0:0.9203:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRMT8	3520219	1.000000	0.71417	0.999000	0.59377	0.295000	0.27426	9.869000	0.99810	1.434000	0.47414	0.563000	0.77884	.		PASS	0.527	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854	Intron	55	221	55	221	---	---	---	---
ACSM4	341392	broad.mit.edu	37	12	7476890	7476890	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr12:7476890G>T	ENST00000399422.4	+	10	1378	c.1330G>T	c.(1330-1332)Gcc>Tcc	p.A444S		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	444					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)	p.A444S(2)		endometrium(6)|kidney(1)|lung(14)	21						GAAAACTGCTGCCACGATAAG	0.448																																						uc001qsx.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1330-1332)GCC>TCC		acyl-CoA synthetase medium-chain family member 4							111.0	103.0	105.0					12																	7476890		2058	4227	6285	SO:0001583	missense	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7476890G>T		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.1330G>T	12.37:g.7476890G>T	ENSP00000382349:p.Ala444Ser						p.A444S	NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN			10	1330	+			444					A8MTI6	Missense_Mutation	SNP	ENST00000399422.4	37	c.1330G>T	CCDS44825.1	.	.	.	.	.	.	.	.	.	.	G	6.801	0.516734	0.13005	.	.	ENSG00000215009	ENST00000399422	T	0.10860	2.83	3.43	3.43	0.39272	AMP-dependent synthetase/ligase (1);	0.000000	0.38778	U	0.001568	T	0.08714	0.0216	N	0.25201	0.72	0.30556	N	0.765001	B	0.14438	0.01	B	0.37943	0.261	T	0.31194	-0.9952	10	0.09843	T	0.71	-13.4103	8.2241	0.31558	0.0:0.0:0.7619:0.2381	.	444	P0C7M7	ACSM4_HUMAN	S	444	ENSP00000382349:A444S	ENSP00000382349:A444S	A	+	1	0	ACSM4	7368157	0.087000	0.21565	0.992000	0.48379	0.661000	0.39034	1.253000	0.32886	1.936000	0.56123	0.557000	0.71058	GCC		PASS	0.448	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		8	36	8	36	---	---	---	---
DPPA3	359787	broad.mit.edu	37	12	7869565	7869565	+	Silent	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr12:7869565G>A	ENST00000345088.2	+	4	489	c.372G>A	c.(370-372)aaG>aaA	p.K124K		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	124					chromatin modification (GO:0016568)|embryonic cleavage (GO:0040016)|negative regulation of DNA demethylation (GO:1901536)|protection of DNA demethylation of female pronucleus (GO:0044726)|regulation of genetic imprinting (GO:2000653)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)	p.K124K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		TTTTTCAGAAGGAATCAAGAC	0.378																																						uc001qtf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(370-372)AAG>AAA		stella							78.0	84.0	82.0					12																	7869565		2203	4300	6503	SO:0001819	synonymous_variant	359787					cytoplasm|nucleus		g.chr12:7869565G>A	AY317075	CCDS8582.1	12p13.31	2012-10-02			ENSG00000187569	ENSG00000187569			19199	protein-coding gene	gene with protein product		608408					Standard	NM_199286		Approved	Stella	uc001qtf.3	Q6W0C5	OTTHUMG00000168434	ENST00000345088.2:c.372G>A	12.37:g.7869565G>A							p.K124K	NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN		Kidney(36;0.0887)	4	450	+			124					Q0P5U3|Q6JZS6	Silent	SNP	ENST00000345088.2	37	c.372G>A	CCDS8582.1																																																																																				PASS	0.378	DPPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399718.1	NM_199286		37	144	37	144	---	---	---	---
CLEC12A	160364	broad.mit.edu	37	12	10133281	10133281	+	Silent	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr12:10133281C>A	ENST00000304361.4	+	4	662	c.480C>A	c.(478-480)gcC>gcA	p.A160A	CLEC12A_ENST00000350667.4_Silent_p.A127A|CLEC12A_ENST00000355690.4_Silent_p.A170A|CLEC12A_ENST00000434319.2_Silent_p.A160A	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	160	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.A160A(1)|p.A170A(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						GTAAAATGGCCTGTGCTGCTC	0.448																																					Melanoma(197;1487 2125 16611 22221 34855)	uc001qwr.3																			2	Substitution - coding silent(2)	p.A160T(1)	lung(2)	skin(1)	1						c.(478-480)GCC>GCA		myeloid inhibitory C-type lectin-like receptor							124.0	112.0	116.0					12																	10133281		2203	4300	6503	SO:0001819	synonymous_variant	160364					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10133281C>A	AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"""C-type lectin domain containing"""	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.480C>A	12.37:g.10133281C>A						CLEC12A_uc001qwq.2_Silent_p.A170A|CLEC12A_uc001qws.3_Silent_p.A127A|CLEC12A_uc001qwt.2_Silent_p.A89A	p.A160A	NM_138337	NP_612210	Q5QGZ9	CL12A_HUMAN			4	668	+			160			Extracellular (Potential).|C-type lectin.		B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	Silent	SNP	ENST00000304361.4	37	c.480C>A	CCDS8608.1																																																																																				PASS	0.448	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399545.1	NM_138337		41	107	41	107	---	---	---	---
YBX3	8531	broad.mit.edu	37	12	10854608	10854608	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr12:10854608T>A	ENST00000228251.4	-	8	1204	c.1004A>T	c.(1003-1005)tAc>tTc	p.Y335F	YBX3_ENST00000546164.1_5'UTR|YBX3_ENST00000279550.7_Missense_Mutation_p.Y266F	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	335					3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.Y335F(1)									GCGACGCCGGTAATTGTAGGG	0.542																																						uc001qyt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|large_intestine(1)	4						c.(1003-1005)TAC>TTC		cold shock domain protein A isoform a							181.0	170.0	174.0					12																	10854608		2203	4300	6503	SO:0001583	missense	8531				negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:10854608T>A	L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"""cold-shock domain containing A1"""	603437	"""cold shock domain protein A"""	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.1004A>T	12.37:g.10854608T>A	ENSP00000228251:p.Tyr335Phe					CSDA_uc001qyu.2_Missense_Mutation_p.Y266F	p.Y335F	NM_003651	NP_003642	P16989	DBPA_HUMAN			8	1247	-	Glioma(1;0.155)		335					B2RBW6|Q14121|Q969N6|Q96B76	Missense_Mutation	SNP	ENST00000228251.4	37	c.1004A>T	CCDS8630.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.429417	0.83776	.	.	ENSG00000060138	ENST00000279550;ENST00000228251	T;T	0.26810	1.73;1.71	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000003	T	0.46502	0.1396	M	0.70275	2.135	0.42132	D	0.991474	D;D	0.71674	0.996;0.998	D;D	0.72625	0.971;0.978	T	0.39418	-0.9615	10	0.25751	T	0.34	.	12.4131	0.55478	0.0:0.0:0.0:1.0	.	266;335	P16989-2;P16989	.;DBPA_HUMAN	F	266;335	ENSP00000279550:Y266F;ENSP00000228251:Y335F	ENSP00000228251:Y335F	Y	-	2	0	CSDA	10745875	0.999000	0.42202	0.981000	0.43875	0.978000	0.69477	3.400000	0.52594	1.819000	0.53055	0.533000	0.62120	TAC		PASS	0.542	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399628.1	NM_003651		82	256	82	256	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13906731	13906731	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr12:13906731G>A	ENST00000609686.1	-	3	739	c.530C>T	c.(529-531)cCt>cTt	p.P177L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	177					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.P177L(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTGGTAGCCAGGGAAATAGGT	0.478																																						uc001rbt.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(529-531)CCT>CTT		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						127.0	121.0	123.0					12																	13906731		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13906731G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.530C>T	12.37:g.13906731G>A	ENSP00000477455:p.Pro177Leu						p.P177L	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			3	709	-			177			Extracellular (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.530C>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635649	0.87760	.	.	ENSG00000150086	ENST00000279593	D	0.82526	-1.62	5.13	5.13	0.70059	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.92433	0.7598	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93609	0.6937	10	0.72032	D	0.01	.	18.5808	0.91170	0.0:0.0:1.0:0.0	.	177	Q13224	NMDE2_HUMAN	L	177	ENSP00000279593:P177L	ENSP00000279593:P177L	P	-	2	0	GRIN2B	13797998	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.784000	0.99039	2.373000	0.80994	0.561000	0.74099	CCT		PASS	0.478	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			53	141	53	141	---	---	---	---
PLEKHA5	54477	broad.mit.edu	37	12	19408041	19408041	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr12:19408041C>A	ENST00000299275.6	+	5	380	c.374C>A	c.(373-375)gCt>gAt	p.A125D	PLEKHA5_ENST00000317589.4_Missense_Mutation_p.A125D|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.A125D|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.A125D|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.A17D|PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.A125D|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.A125D|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.A125D|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.A17D	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	125					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.A125D(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ATAAATGAAGCTTCTAACTAT	0.348																																					Pancreas(196;329 2193 11246 14234 19524)	uc001reb.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(373-375)GCT>GAT		pleckstrin homology domain containing, family A							122.0	116.0	118.0					12																	19408041		2203	4300	6503	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19408041C>A	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.374C>A	12.37:g.19408041C>A	ENSP00000299275:p.Ala125Asp					PLEKHA5_uc010sie.1_Missense_Mutation_p.A125D|PLEKHA5_uc001rea.2_Missense_Mutation_p.A125D|PLEKHA5_uc009zin.2_5'UTR|PLEKHA5_uc010sif.1_Missense_Mutation_p.A17D|PLEKHA5_uc010sig.1_Missense_Mutation_p.A17D|PLEKHA5_uc010sih.1_Missense_Mutation_p.A17D	p.A125D	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN			5	460	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		125					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.374C>A	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352374	0.82132	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000412219;ENST00000429027;ENST00000299275;ENST00000538714;ENST00000538305;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T;T;T;T;T;T;T	0.31769	2.7;2.7;2.7;2.7;2.7;2.7;2.7;1.48;2.79;2.81;2.83	4.67	4.67	0.58626	.	0.059371	0.64402	D	0.000002	T	0.49081	0.1536	L	0.46157	1.445	0.80722	D	1	D;D;D;D;D;D	0.89917	0.978;1.0;1.0;0.988;1.0;1.0	P;D;D;P;D;D	0.91635	0.754;0.999;0.999;0.89;0.999;0.999	T	0.48433	-0.9036	10	0.59425	D	0.04	-11.4074	15.9141	0.79496	0.0:1.0:0.0:0.0	.	125;17;17;125;125;125	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;Q9HAU0;Q9HAU0-2	.;.;.;.;PKHA5_HUMAN;.	D	125;125;125;125;125;125;125;125;125;17;17;17;17	ENSP00000325155:A125D;ENSP00000347560:A125D;ENSP00000352104:A125D;ENSP00000311239:A125D;ENSP00000404296:A125D;ENSP00000299275:A125D;ENSP00000439673:A125D;ENSP00000446308:A17D;ENSP00000400411:A17D;ENSP00000439837:A17D;ENSP00000440371:A17D	ENSP00000299275:A125D	A	+	2	0	PLEKHA5	19299308	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	6.637000	0.74304	2.414000	0.81942	0.460000	0.39030	GCT		PASS	0.348	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		4	174	4	174	---	---	---	---
LDHB	3945	broad.mit.edu	37	12	21788641	21788641	+	Silent	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr12:21788641C>A	ENST00000396076.1	-	8	1172	c.840G>T	c.(838-840)ggG>ggT	p.G280G	LDHB_ENST00000350669.1_Silent_p.G280G	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	280					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|lactate metabolic process (GO:0006089)|NAD metabolic process (GO:0019674)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	L-lactate dehydrogenase activity (GO:0004459)|NAD binding (GO:0051287)	p.G280G(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26						TGCCATACATCCCCTGCCAGA	0.463																																						uc001rfc.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)	3						c.(838-840)GGG>GGT		L-lactate dehydrogenase B	NADH(DB00157)						83.0	70.0	74.0					12																	21788641		2203	4300	6503	SO:0001819	synonymous_variant	3945				glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity	g.chr12:21788641C>A		CCDS8691.1	12p12.2-p12.1	2012-10-02			ENSG00000111716	ENSG00000111716	1.1.1.27		6541	protein-coding gene	gene with protein product		150100					Standard	NM_002300		Approved		uc001rfe.3	P07195	OTTHUMG00000133760	ENST00000396076.1:c.840G>T	12.37:g.21788641C>A						LDHB_uc001rfd.2_Silent_p.G280G|LDHB_uc001rfe.2_Silent_p.G280G	p.G280G	NM_002300	NP_002291	P07195	LDHB_HUMAN			7	858	-			280						Silent	SNP	ENST00000396076.1	37	c.840G>T	CCDS8691.1																																																																																				PASS	0.463	LDHB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258220.2	NM_002300		24	88	24	88	---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40760848	40760848	+	Silent	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr12:40760848G>T	ENST00000298910.7	+	50	7489	c.7431G>T	c.(7429-7431)cgG>cgT	p.R2477R		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2477					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.R2484R(1)|p.R2477R(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GCTACAACCGGAAAAATACTG	0.328																																						uc001rmg.3																			2	Substitution - coding silent(2)		lung(2)	ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(7429-7431)CGG>CGT		leucine-rich repeat kinase 2							79.0	81.0	80.0					12																	40760848		2203	4298	6501	SO:0001819	synonymous_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40760848G>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.7431G>T	12.37:g.40760848G>T						LRRK2_uc009zjw.2_Silent_p.R1315R|LRRK2_uc001rmi.2_3'UTR	p.R2477R	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			50	7552	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	2477					A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	c.7431G>T	CCDS31774.1																																																																																				PASS	0.328	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		16	83	16	83	---	---	---	---
ACVR1B	91	broad.mit.edu	37	12	52380679	52380679	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr12:52380679C>T	ENST00000257963.4	+	7	1291	c.1214C>T	c.(1213-1215)gCc>gTc	p.A405V	RNU6-574P_ENST00000384265.1_RNA|ACVR1B_ENST00000415850.2_Missense_Mutation_p.A405V|ACVR1B_ENST00000563121.1_Intron|ACVR1B_ENST00000542485.1_Missense_Mutation_p.A353V|ACVR1B_ENST00000426655.2_Missense_Mutation_p.A405V|ACVR1B_ENST00000541224.1_Missense_Mutation_p.A446V	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	405	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)	p.A405V(1)|p.A446V(1)		breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GATATTTATGCCCTCGGGCTT	0.418																																						uc001rzn.2																			2	Substitution - Missense(2)		lung(2)	pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9						c.(1213-1215)GCC>GTC		activin A receptor, type IB isoform a precursor	Adenosine triphosphate(DB00171)						134.0	131.0	132.0					12																	52380679		2203	4300	6503	SO:0001583	missense	91				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	g.chr12:52380679C>T		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.1214C>T	12.37:g.52380679C>T	ENSP00000257963:p.Ala405Val					ACVR1B_uc001rzl.2_Missense_Mutation_p.A405V|ACVR1B_uc001rzm.2_Missense_Mutation_p.A405V|ACVR1B_uc010snn.1_Missense_Mutation_p.A446V	p.A405V	NM_004302	NP_004293	P36896	ACV1B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.104)	7	1256	+			405			Protein kinase.|Cytoplasmic (Potential).		B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	c.1214C>T	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	C	33	5.208768	0.95069	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	D;D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58;-3.58	4.77	4.77	0.60923	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	0.98201	0.9405	H	0.96239	3.79	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;0.982;1.0	D;D;P;D	0.74674	0.948;0.984;0.841;0.983	D	0.99293	1.0899	10	0.87932	D	0	.	18.3723	0.90411	0.0:1.0:0.0:0.0	.	446;405;405;405	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	V	405;446;405;405;353	ENSP00000257963:A405V;ENSP00000442656:A446V;ENSP00000390477:A405V;ENSP00000397550:A405V;ENSP00000442885:A353V	ENSP00000257963:A405V	A	+	2	0	ACVR1B	50666946	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.651000	0.83577	2.668000	0.90789	0.563000	0.77884	GCC		PASS	0.418	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		5	251	5	251	---	---	---	---
NR4A1	3164	broad.mit.edu	37	12	52451220	52451220	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr12:52451220G>A	ENST00000243050.1	+	7	1760	c.1446G>A	c.(1444-1446)tgG>tgA	p.W482*	NR4A1_ENST00000360284.3_Nonsense_Mutation_p.W495*|RP11-1100L3.8_ENST00000564363.1_lincRNA|NR4A1_ENST00000545748.1_Nonsense_Mutation_p.W536*|NR4A1_ENST00000394825.1_Nonsense_Mutation_p.W482*|NR4A1_ENST00000550082.1_Nonsense_Mutation_p.W495*|NR4A1_ENST00000394824.2_Nonsense_Mutation_p.W482*	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	482					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|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)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.W482*(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		TCGGGGACTGGATTGACAGTA	0.612																																						uc001rzs.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1444-1446)TGG>TGA		nuclear receptor subfamily 4, group A, member 1							130.0	116.0	121.0					12																	52451220		2203	4300	6503	SO:0001587	stop_gained	3164				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	g.chr12:52451220G>A	L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"""Nuclear hormone receptors"""	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.1446G>A	12.37:g.52451220G>A	ENSP00000243050:p.Trp482*					NR4A1_uc010sno.1_Nonsense_Mutation_p.W495*|NR4A1_uc001rzt.2_Nonsense_Mutation_p.W482*|NR4A1_uc009zmc.2_Missense_Mutation_p.G96E	p.W482*	NM_002135	NP_002126	P22736	NR4A1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	7	1760	+			482					B4DML7|Q15627|Q53Y00|Q6IBU8	Nonsense_Mutation	SNP	ENST00000243050.1	37	c.1446G>A	CCDS8818.1	.	.	.	.	.	.	.	.	.	.	G	38	7.237632	0.98154	.	.	ENSG00000123358	ENST00000360284;ENST00000545748;ENST00000550082;ENST00000243050;ENST00000394825;ENST00000394824	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.8627	0.88786	0.0:0.0:1.0:0.0	.	.	.	.	X	495;536;495;482;482;482	.	ENSP00000243050:W482X	W	+	3	0	NR4A1	50737487	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.595000	0.98260	2.837000	0.97791	0.655000	0.94253	TGG		PASS	0.612	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2			16	68	16	68	---	---	---	---
KRT1	3848	broad.mit.edu	37	12	53070088	53070088	+	Silent	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr12:53070088G>A	ENST00000252244.3	-	7	1504	c.1446C>T	c.(1444-1446)taC>taT	p.Y482Y		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	482	Coil 2.|Rod.		Y -> C (in EHK; dbSNP:rs58420087). {ECO:0000269|PubMed:7512983}.		complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.Y482Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GGAGGGTCCTGTAGGTGGCAA	0.572																																						uc001sau.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1444-1446)TAC>TAT		keratin 1							95.0	68.0	77.0					12																	53070088		2203	4300	6503	SO:0001819	synonymous_variant	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53070088G>A	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1446C>T	12.37:g.53070088G>A						KRT1_uc001sav.1_Silent_p.Y482Y	p.Y482Y	NM_006121	NP_006112	P04264	K2C1_HUMAN			7	1505	-			482			Rod.|Coil 2.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Silent	SNP	ENST00000252244.3	37	c.1446C>T	CCDS8836.1																																																																																				PASS	0.572	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		12	61	12	61	---	---	---	---
HOXC10	3226	broad.mit.edu	37	12	54379542	54379543	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr12:54379542_54379543GC>AA	ENST00000303460.4	+	1	573_574	c.499_500GC>AA	c.(499-501)GCc>AAc	p.A167N	RP11-834C11.12_ENST00000513209.1_5'Flank|HOXC-AS3_ENST00000567780.1_RNA|HOXC-AS3_ENST00000513165.1_RNA|HOXC-AS3_ENST00000514702.1_RNA|HOXC-AS3_ENST00000509870.1_RNA	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	167					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|neuromuscular process (GO:0050905)|positive regulation of cell proliferation (GO:0008284)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.A167D(1)|p.A167T(1)|p.A167N(1)		endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						CTGTTCTGGGGCCAACGACTTC	0.658																																						uc001sen.2																			3	Substitution - Missense(3)		lung(3)	pancreas(1)	1						c.(499-501)GCC>ACC|c.(499-501)GCC>GAC		homeobox C10																																				SO:0001583	missense	3226				positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54379542G>A|g.chr12:54379543C>A		CCDS8868.1	12q13.13	2011-06-20	2005-12-22		ENSG00000180818	ENSG00000180818		"""Homeoboxes / ANTP class : HOXL subclass"""	5122	protein-coding gene	gene with protein product		605560	"""homeo box C10"""	HOX3I		1358459	Standard	NM_017409		Approved		uc001sen.3	Q9NYD6	OTTHUMG00000160031	Exception_encountered	12.37:g.54379542_54379543delinsAA	ENSP00000307321:p.Ala167Asn						p.A167T|p.A167D	NM_017409	NP_059105	Q9NYD6	HXC10_HUMAN			1	597|598	+			167					O15219|O15220|Q9BVD5	Missense_Mutation	SNP	ENST00000303460.4	37	c.499G>A|c.500C>A	CCDS8868.1																																																																																				PASS	0.658	HOXC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358952.2			7|6	55	6	55	---	---	---	---
HSD17B6	8630	broad.mit.edu	37	12	57167625	57167625	+	5'UTR	SNP	A	A	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr12:57167625A>T	ENST00000554643.1	+	0	338				HSD17B6_ENST00000555159.1_5'UTR|HSD17B6_ENST00000555805.1_5'UTR|HSD17B6_ENST00000322165.1_5'UTR|HSD17B6_ENST00000554150.1_5'UTR			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6						androgen biosynthetic process (GO:0006702)|androgen catabolic process (GO:0006710)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|intracellular (GO:0005622)|membrane (GO:0016020)	catalytic activity (GO:0003824)|electron carrier activity (GO:0009055)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|oxidoreductase activity (GO:0016491)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	AAGAGAAGGAAGCACCCTCAC	0.468																																						uc001smg.1																			0				upper_aerodigestive_tract(1)|pancreas(1)	2						c.(-13--9)GAAGC>GATGC		hydroxysteroid (17-beta) dehydrogenase 6	Succinic acid(DB00139)						51.0	52.0	51.0					12																	57167625		2203	4300	6503	SO:0001623	5_prime_UTR_variant	8630				androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity	g.chr12:57167625A>T	AF016509	CCDS8925.1	12q13.3	2012-12-07	2012-12-07		ENSG00000025423	ENSG00000025423	1.1.1.62, 1.1.1.63, 1.1.1.105	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	23316	protein-coding gene	gene with protein product	"""oxidative 3-alpha-hydroxysteroid-dehydrogenase"", ""3(alpha->beta)-hydroxysteroid epimerasel"", ""retinol dehydrogenase"", ""oxidoreductase"", ""NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase"", ""3-hydroxysteroid epimerase"", ""short chain dehydrogenase/reductase family 9C, member 6"""	606623	"""hydroxysteroid (17-beta) dehydrogenase 6"", ""hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)"""			11165032, 19027726	Standard	XM_005269207		Approved	HSE, RODH, SDR9C6	uc001smg.1	O14756	OTTHUMG00000170854	ENST00000554643.1:c.-12A>T	12.37:g.57167625A>T								NM_003725	NP_003716	O14756	H17B6_HUMAN			2	99	+								O43275	Translation_Start_Site	SNP	ENST00000554643.1	37	c.-11A>T	CCDS8925.1																																																																																				PASS	0.468	HSD17B6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410714.1	NM_003725		24	71	24	71	---	---	---	---
TRHDE	29953	broad.mit.edu	37	12	72962382	72962382	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr12:72962382G>C	ENST00000261180.4	+	10	2038	c.1942G>C	c.(1942-1944)Gga>Cga	p.G648R	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	648					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G648R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TATTGTGGTAGGAAATAGAAG	0.318																																						uc001sxa.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1942-1944)GGA>CGA		thyrotropin-releasing hormone degrading enzyme							113.0	113.0	113.0					12																	72962382		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72962382G>C	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1942G>C	12.37:g.72962382G>C	ENSP00000261180:p.Gly648Arg						p.G648R	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			10	1972	+			648			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.1942G>C	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.296138	0.60086	.	.	ENSG00000072657	ENST00000261180	T	0.27402	1.67	5.24	5.24	0.73138	.	0.568942	0.17239	N	0.181626	T	0.31979	0.0814	L	0.52573	1.65	0.80722	D	1	B	0.26195	0.144	B	0.14023	0.01	T	0.06058	-1.0848	10	0.38643	T	0.18	.	18.8239	0.92108	0.0:0.0:1.0:0.0	.	648	Q9UKU6	TRHDE_HUMAN	R	648	ENSP00000261180:G648R	ENSP00000261180:G648R	G	+	1	0	TRHDE	71248649	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.449000	0.90337	2.426000	0.82243	0.557000	0.71058	GGA		PASS	0.318	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		23	121	23	121	---	---	---	---
TRHDE	29953	broad.mit.edu	37	12	73056875	73056875	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr12:73056875C>T	ENST00000261180.4	+	19	3071	c.2975C>T	c.(2974-2976)tCt>tTt	p.S992F		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	992					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S992F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GCTGCTGCTTCTTTCTCACGA	0.408																																						uc001sxa.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2974-2976)TCT>TTT		thyrotropin-releasing hormone degrading enzyme							65.0	68.0	67.0					12																	73056875		2203	4299	6502	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73056875C>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2975C>T	12.37:g.73056875C>T	ENSP00000261180:p.Ser992Phe						p.S992F	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			19	3005	+			992			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2975C>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.685544	0.88639	.	.	ENSG00000072657	ENST00000261180	T	0.06528	3.29	5.35	5.35	0.76521	.	0.112965	0.64402	D	0.000008	T	0.21387	0.0515	L	0.56199	1.76	0.58432	D	0.999999	D	0.67145	0.996	D	0.64877	0.93	T	0.00068	-1.2140	10	0.66056	D	0.02	.	19.4305	0.94762	0.0:1.0:0.0:0.0	.	992	Q9UKU6	TRHDE_HUMAN	F	992	ENSP00000261180:S992F	ENSP00000261180:S992F	S	+	2	0	TRHDE	71343142	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.997000	0.76270	2.673000	0.90976	0.557000	0.71058	TCT		PASS	0.408	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		32	97	32	97	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78515828	78515828	+	Silent	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr12:78515828C>A	ENST00000397909.2	+	16	4031	c.3858C>A	c.(3856-3858)ggC>ggA	p.G1286G	NAV3_ENST00000228327.6_Silent_p.G1286G|NAV3_ENST00000536525.2_Silent_p.G1286G|NAV3_ENST00000266692.7_Intron			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1286	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.G1286G(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CGCGGCAAGGCAGTCTGGAGT	0.562										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(3856-3858)GGC>GGA		neuron navigator 3							51.0	51.0	51.0					12																	78515828		2101	4227	6328	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78515828C>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3858C>A	12.37:g.78515828C>A		HNSCC(70;0.22)				NAV3_uc001syo.2_Silent_p.G1286G|NAV3_uc010sub.1_Silent_p.G786G|NAV3_uc009zsf.2_Intron	p.G1286G	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			16	4031	+			1286			Ser-rich.		Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.3858C>A																																																																																					PASS	0.562	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		18	91	18	91	---	---	---	---
CDK17	5128	broad.mit.edu	37	12	96683066	96683066	+	Splice_Site	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr12:96683066C>A	ENST00000261211.3	-	11	1601		c.e11-1		CDK17_ENST00000553042.1_Splice_Site|CDK17_ENST00000542666.1_Splice_Site|CDK17_ENST00000543119.2_Splice_Site	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17						protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						CGGGCTAGTCCTTCATAGGGA	0.448																																						uc001tep.1																			2	Unknown(2)		prostate(1)|lung(1)	ovary(3)|lung(2)|kidney(1)|central_nervous_system(1)	7						c.e11-1		PCTAIRE protein kinase 2							160.0	142.0	148.0					12																	96683066		2203	4300	6503	SO:0001630	splice_region_variant	5128						ATP binding|cyclin-dependent protein kinase activity	g.chr12:96683066C>A		CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"""Cyclin-dependent kinases"""	8750	protein-coding gene	gene with protein product		603440	"""PCTAIRE protein kinase 2"""	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.998-1G>T	12.37:g.96683066C>A						CDK17_uc009ztk.2_Splice_Site_p.G333_splice|CDK17_uc010svb.1_Splice_Site_p.G280_splice	p.G333_splice	NM_002595	NP_002586	Q00537	CDK17_HUMAN			11	1487	-								A8K1U6|B2RCQ2|Q8NEB8	Splice_Site	SNP	ENST00000261211.3	37	c.998_splice	CCDS9061.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624975	0.66901	.	.	ENSG00000059758	ENST00000261211;ENST00000543119;ENST00000542666	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2862	0.94072	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDK17	95207197	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	7.776000	0.85560	2.621000	0.88768	0.563000	0.77884	.		PASS	0.448	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408751.1	NM_002595	Intron	4	160	4	160	---	---	---	---
ANKS1B	56899	broad.mit.edu	37	12	99222964	99222964	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr12:99222964C>A	ENST00000547776.2	-	19	3053	c.3054G>T	c.(3052-3054)agG>agT	p.R1018S	ANKS1B_ENST00000549025.2_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000549558.2_Intron|ANKS1B_ENST00000546960.1_Missense_Mutation_p.R244S|ANKS1B_ENST00000547446.1_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.R1018S|ANKS1B_ENST00000332712.7_Intron|ANKS1B_ENST00000546568.1_Intron|ANKS1B_ENST00000550693.2_Intron|ANKS1B_ENST00000549493.2_Missense_Mutation_p.R244S|ANKS1B_ENST00000333732.7_Missense_Mutation_p.R24S|ANKS1B_ENST00000341752.7_Missense_Mutation_p.R24S	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	1018						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.R244S(1)|p.R1018S(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GAGCCATCTGCCTCTCCAGTT	0.418																																						uc001tge.1																			2	Substitution - Missense(2)		lung(2)		0						c.(3052-3054)AGG>AGT		cajalin 2 isoform a							246.0	240.0	242.0					12																	99222964		1889	4124	6013	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99222964C>A	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.3054G>T	12.37:g.99222964C>A	ENSP00000449629:p.Arg1018Ser					ANKS1B_uc001tgf.1_Intron|ANKS1B_uc001tgk.2_Missense_Mutation_p.R315S|ANKS1B_uc010svd.1_Missense_Mutation_p.R24S|ANKS1B_uc001tgd.1_Intron|ANKS1B_uc009ztq.2_5'UTR|ANKS1B_uc010sve.1_Missense_Mutation_p.R24S|ANKS1B_uc001tgh.3_Missense_Mutation_p.R24S|ANKS1B_uc001tgi.2_Missense_Mutation_p.R244S|ANKS1B_uc009ztr.2_Intron|ANKS1B_uc001tgj.2_Intron|ANKS1B_uc009ztp.2_Missense_Mutation_p.R24S|ANKS1B_uc010svf.1_Missense_Mutation_p.R24S|ANKS1B_uc001tgg.3_Intron|ANKS1B_uc010svg.1_Intron|ANKS1B_uc009zts.1_Missense_Mutation_p.R244S	p.R1018S	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	19	3471	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	1018					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.3054G>T	CCDS55872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.54|15.54	2.863574|2.863574	0.51482|0.51482	.|.	.|.	ENSG00000185046|ENSG00000185046	ENST00000550778|ENST00000341752;ENST00000547776;ENST00000329257;ENST00000549493;ENST00000333732;ENST00000546960	.|T;T;T;T;T;T	.|0.77489	.|-0.41;0.7;0.71;-0.55;-1.1;-0.22	5.07|5.07	2.79|2.79	0.32731|0.32731	.|.	.|0.000000	.|0.64402	.|D	.|0.000008	T|T	0.81697|0.81697	0.4877|0.4877	L|L	0.49778|0.49778	1.585|1.585	0.80722|0.80722	D|D	1|1	.|P;B;P;P;B;P;D	.|0.57899	.|0.528;0.393;0.613;0.775;0.306;0.835;0.981	.|B;B;B;B;B;P;D	.|0.69824	.|0.167;0.08;0.352;0.304;0.12;0.493;0.966	T|T	0.80441|0.80441	-0.1381|-0.1381	5|10	.|0.49607	.|T	.|0.09	-9.1757|-9.1757	8.9327|8.9327	0.35680|0.35680	0.0:0.7195:0.0:0.2805|0.0:0.7195:0.0:0.2805	.|.	.|24;24;244;133;232;244;1018	.|F8VR14;B7Z9I9;Q7Z6G8-4;B1VKB5;F8VQW6;Q7Z6G8-3;Q7Z6G8	.|.;.;.;.;.;.;ANS1B_HUMAN	V|S	290|24;1018;1018;244;24;244	.|ENSP00000345510:R24S;ENSP00000449629:R1018S;ENSP00000331381:R1018S;ENSP00000448203:R244S;ENSP00000331256:R24S;ENSP00000447839:R244S	.|ENSP00000331381:R1018S	G|R	-|-	2|3	0|2	ANKS1B|ANKS1B	97747095|97747095	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.481000|1.481000	0.35476|0.35476	1.247000|1.247000	0.43917|0.43917	0.655000|0.655000	0.94253|0.94253	GGC|AGG		PASS	0.418	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		72	360	72	360	---	---	---	---
MYBPC1	4604	broad.mit.edu	37	12	102067297	102067297	+	Silent	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr12:102067297C>A	ENST00000550270.1	+	24	2685	c.2685C>A	c.(2683-2685)atC>atA	p.I895I	MYBPC1_ENST00000547509.1_Silent_p.I863I|MYBPC1_ENST00000553190.1_Silent_p.I877I|MYBPC1_ENST00000452455.2_Silent_p.I895I|MYBPC1_ENST00000361685.2_Silent_p.I902I|MYBPC1_ENST00000541119.1_Silent_p.I865I|MYBPC1_ENST00000536007.1_Silent_p.I858I|MYBPC1_ENST00000360610.2_Silent_p.I895I|MYBPC1_ENST00000549145.1_Silent_p.I908I|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000361466.2_Silent_p.I902I|MYBPC1_ENST00000392934.3_Silent_p.I864I|MYBPC1_ENST00000441232.1_Silent_p.I895I|MYBPC1_ENST00000547405.1_Silent_p.I851I|MYBPC1_ENST00000545503.2_Silent_p.I877I|MYBPC1_ENST00000551300.1_Silent_p.I778I			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	895	Ig-like C2-type 6.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.I902I(1)|p.I895I(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CTGATACAATCATATTTATTA	0.383																																						uc001tii.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|liver(1)|skin(1)	4						c.(2683-2685)ATC>ATA		myosin binding protein C, slow type isoform 3							141.0	154.0	150.0					12																	102067297		2203	4300	6503	SO:0001819	synonymous_variant	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102067297C>A		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.2685C>A	12.37:g.102067297C>A						MYBPC1_uc001tig.2_Silent_p.I902I|MYBPC1_uc010svq.1_Silent_p.I864I|MYBPC1_uc001tih.2_Silent_p.I902I|MYBPC1_uc001tij.2_Silent_p.I877I|MYBPC1_uc010svr.1_Silent_p.I877I|MYBPC1_uc010svs.1_Silent_p.I895I|MYBPC1_uc010svt.1_Silent_p.I865I|MYBPC1_uc010svu.1_Silent_p.I858I|MYBPC1_uc001tik.2_Silent_p.I851I|MYBPC1_uc001til.2_5'UTR|MYBPC1_uc001tim.2_5'UTR	p.I895I	NM_206820	NP_996556	Q00872	MYPC1_HUMAN			24	2787	+			895			Ig-like C2-type 6.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Silent	SNP	ENST00000550270.1	37	c.2685C>A	CCDS9085.1																																																																																				PASS	0.383	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			88	248	88	248	---	---	---	---
NAA25	80018	broad.mit.edu	37	12	112513519	112513519	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr12:112513519C>G	ENST00000261745.4	-	8	987	c.739G>C	c.(739-741)Gag>Cag	p.E247Q		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	247						cytoplasm (GO:0005737)		p.E247Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GCATTGCACTCTGGCCACCTG	0.403																																						uc001ttm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|pancreas(1)	3						c.(739-741)GAG>CAG		mitochondrial distribution and morphology 20							106.0	109.0	108.0					12																	112513519		2203	4300	6503	SO:0001583	missense	80018					cytoplasm	protein binding	g.chr12:112513519C>G	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.739G>C	12.37:g.112513519C>G	ENSP00000261745:p.Glu247Gln					NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.E219Q|NAA25_uc009zwa.1_Missense_Mutation_p.E247Q	p.E247Q	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN			8	759	-			247					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	c.739G>C	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856811	0.71834	.	.	ENSG00000111300	ENST00000261745	T	0.27890	1.64	5.62	5.62	0.85841	.	0.107311	0.64402	D	0.000007	T	0.36441	0.0967	L	0.46157	1.445	0.58432	D	0.999997	P;P	0.49090	0.919;0.919	P;B	0.45343	0.477;0.343	T	0.04400	-1.0954	10	0.41790	T	0.15	-15.8528	19.6604	0.95864	0.0:1.0:0.0:0.0	.	247;247	A8K8X0;Q14CX7	.;NAA25_HUMAN	Q	247	ENSP00000261745:E247Q	ENSP00000261745:E247Q	E	-	1	0	NAA25	110997902	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.591000	0.67536	2.648000	0.89879	0.655000	0.94253	GAG		PASS	0.403	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		3	110	3	110	---	---	---	---
SDSL	113675	broad.mit.edu	37	12	113867083	113867083	+	Silent	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr12:113867083C>T	ENST00000403593.4	+	4	595	c.333C>T	c.(331-333)gcC>gcT	p.A111A	SDSL_ENST00000345635.4_Silent_p.A111A			Q96GA7	SDSL_HUMAN	serine dehydratase-like	111					cellular amino acid metabolic process (GO:0006520)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|pyridoxal phosphate binding (GO:0030170)	p.A111A(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						GGGAGGGGGCCGAGGTTCAGC	0.627																																						uc001tvi.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(331-333)GCC>GCT		serine dehydratase-like	Pyridoxal Phosphate(DB00114)						50.0	49.0	49.0					12																	113867083		2203	4300	6503	SO:0001819	synonymous_variant	113675				cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding	g.chr12:113867083C>T	AF134473	CCDS9170.1	12q24.21	2014-06-24				ENSG00000139410			30404	protein-coding gene	gene with protein product						16580895	Standard	NM_138432		Approved	SDS-RS1, cSDH	uc001tvi.3	Q96GA7		ENST00000403593.4:c.333C>T	12.37:g.113867083C>T						SDSL_uc009zwh.2_Silent_p.A111A	p.A111A	NM_138432	NP_612441	Q96GA7	SDSL_HUMAN			5	543	+			111						Silent	SNP	ENST00000403593.4	37	c.333C>T	CCDS9170.1																																																																																				PASS	0.627	SDSL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404782.1	NM_138432		11	93	11	93	---	---	---	---
MED13L	23389	broad.mit.edu	37	12	116429528	116429528	+	Silent	SNP	G	G	A	rs201077645		TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr12:116429528G>A	ENST00000281928.3	-	17	3437	c.3231C>T	c.(3229-3231)acC>acT	p.T1077T		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1077						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.T1077T(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ATCCTTGATCGGTGCTATCAT	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		15109	0.0		0.001	False		,,,				2504	0.0					uc001tvw.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8						c.(3229-3231)ACC>ACT		mediator complex subunit 13-like							56.0	56.0	56.0					12																	116429528		2203	4300	6503	SO:0001819	synonymous_variant	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116429528G>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.3231C>T	12.37:g.116429528G>A							p.T1077T	NM_015335	NP_056150	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	17	3286	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1077					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	ENST00000281928.3	37	c.3231C>T	CCDS9177.1																																																																																				PASS	0.602	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			11	105	11	105	---	---	---	---
CCDC62	84660	broad.mit.edu	37	12	123282703	123282703	+	Silent	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr12:123282703G>A	ENST00000253079.6	+	8	1277	c.933G>A	c.(931-933)caG>caA	p.Q311Q	CCDC62_ENST00000392441.4_Silent_p.Q311Q|CCDC62_ENST00000537566.1_Silent_p.Q72Q|CCDC62_ENST00000392440.2_Silent_p.Q72Q	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	311					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.Q311Q(2)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		AATTAATACAGATGTATGACT	0.333																																						uc001udc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5						c.(931-933)CAG>CAA		coiled-coil domain containing 62 isoform b							61.0	62.0	62.0					12																	123282703		2203	4300	6503	SO:0001819	synonymous_variant	84660					cytoplasm|nucleus		g.chr12:123282703G>A		CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"""cancer/testis antigen 109"""	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.933G>A	12.37:g.123282703G>A						CCDC62_uc010tah.1_RNA|CCDC62_uc001udf.2_Silent_p.Q311Q|CCDC62_uc001ude.2_Silent_p.Q72Q	p.Q311Q	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)	8	1078	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		311			Potential.		A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Silent	SNP	ENST00000253079.6	37	c.933G>A	CCDS9238.1																																																																																				PASS	0.333	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573		23	59	23	59	---	---	---	---
PIWIL1	9271	broad.mit.edu	37	12	130832721	130832721	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr12:130832721A>T	ENST00000245255.3	+	7	999	c.727A>T	c.(727-729)Agt>Tgt	p.S243C		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	243					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)	p.S243C(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TGATATTCCAAGTCACAGGTT	0.328																																						uc001uik.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(727-729)AGT>TGT		piwi-like 1							73.0	71.0	72.0					12																	130832721		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130832721A>T	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.727A>T	12.37:g.130832721A>T	ENSP00000245255:p.Ser243Cys					PIWIL1_uc001uij.1_Missense_Mutation_p.S243C	p.S243C	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	7	817	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		243					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.727A>T	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	A	14.81	2.645355	0.47258	.	.	ENSG00000125207	ENST00000245255;ENST00000540672	T;T	0.31510	3.7;1.49	5.85	5.85	0.93711	Argonaute/Dicer protein, PAZ (1);	0.262714	0.45606	D	0.000347	T	0.29716	0.0742	N	0.19112	0.55	0.26060	N	0.98136	P;P	0.46621	0.881;0.775	B;P	0.50754	0.379;0.649	T	0.18681	-1.0329	10	0.87932	D	0	-1.5568	10.6292	0.45525	0.857:0.0:0.0:0.143	.	243;243	Q96J94;Q96J94-2	PIWL1_HUMAN;.	C	243;104	ENSP00000245255:S243C;ENSP00000441695:S104C	ENSP00000245255:S243C	S	+	1	0	PIWIL1	129398674	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.539000	0.53604	2.222000	0.72286	0.533000	0.62120	AGT		PASS	0.328	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			12	91	12	91	---	---	---	---
GOLGA3	2802	broad.mit.edu	37	12	133363343	133363343	+	Missense_Mutation	SNP	C	C	A	rs201544211		TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr12:133363343C>A	ENST00000450791.2	-	13	3025	c.2842G>T	c.(2842-2844)Gcg>Tcg	p.A948S	GOLGA3_ENST00000456883.2_Missense_Mutation_p.A948S|GOLGA3_ENST00000537452.1_Missense_Mutation_p.A948S|GOLGA3_ENST00000204726.3_Missense_Mutation_p.A948S|GOLGA3_ENST00000545875.1_Missense_Mutation_p.A948S			Q08378	GOGA3_HUMAN	golgin A3	948					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.A948S(2)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TCTGTGACCGCGACCATCTGC	0.622																																						uc001ukz.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(2842-2844)GCG>TCG		Golgi autoantigen, golgin subfamily a, 3							138.0	129.0	132.0					12																	133363343		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133363343C>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.2842G>T	12.37:g.133363343C>A	ENSP00000410378:p.Ala948Ser					GOLGA3_uc001ula.1_Missense_Mutation_p.A948S|GOLGA3_uc001ulb.2_Missense_Mutation_p.A948S	p.A948S	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	14	3401	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	948			Potential.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.2842G>T	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	C	4.914	0.169754	0.09339	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.30448	1.95;1.95;1.95;1.53;1.53	5.12	0.688	0.18027	.	0.326314	0.36854	N	0.002365	T	0.19087	0.0458	L	0.41356	1.27	0.09310	N	0.999991	B;B;B	0.26081	0.056;0.031;0.141	B;B;B	0.22880	0.027;0.018;0.042	T	0.13926	-1.0491	10	0.27082	T	0.32	.	5.6887	0.17817	0.1751:0.5043:0.0:0.3206	.	948;948;948	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	S	948	ENSP00000204726:A948S;ENSP00000410378:A948S;ENSP00000409303:A948S;ENSP00000442143:A948S;ENSP00000442603:A948S	ENSP00000204726:A948S	A	-	1	0	GOLGA3	131873416	0.306000	0.24490	0.000000	0.03702	0.078000	0.17371	0.953000	0.29162	0.196000	0.20367	0.460000	0.39030	GCG		PASS	0.622	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		31	103	31	103	---	---	---	---
MTUS2	23281	broad.mit.edu	37	13	29608164	29608164	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr13:29608164G>T	ENST00000431530.3	+	2	2436	c.2378G>T	c.(2377-2379)aGc>aTc	p.S793I		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	783	Mediates interaction with MAPRE1.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.S793I(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCTGCAAAGAGCAGGATTCTG	0.512																																						uc001usl.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2377-2379)AGC>ATC		hypothetical protein LOC23281 isoform a							99.0	100.0	100.0					13																	29608164		2091	4217	6308	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29608164G>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2378G>T	13.37:g.29608164G>T	ENSP00000392057:p.Ser793Ile						p.S793I	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			2	2436	+			783			Mediates interaction with MAPRE1.		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.2378G>T	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070916	0.76301	.	.	ENSG00000132938	ENST00000431530	T	0.18338	2.22	5.46	4.6	0.57074	.	0.070468	0.56097	D	0.000036	T	0.35566	0.0936	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.01684	-1.1296	9	.	.	.	.	12.7349	0.57218	0.0786:0.0:0.9214:0.0	.	783	Q5JR59	MTUS2_HUMAN	I	793	ENSP00000392057:S793I	.	S	+	2	0	MTUS2	28506164	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.252000	0.51461	2.543000	0.85770	0.655000	0.94253	AGC		PASS	0.512	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		8	70	8	70	---	---	---	---
FRY	10129	broad.mit.edu	37	13	32722036	32722036	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr13:32722036G>T	ENST00000380250.3	+	13	1840	c.1344G>T	c.(1342-1344)agG>agT	p.R448S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	448						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R448S(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGGTACCAAGGGACATGCCTC	0.468																																						uc001utx.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(1)|skin(1)	7						c.(1342-1344)AGG>AGT		furry homolog							134.0	132.0	132.0					13																	32722036		1853	4095	5948	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32722036G>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.1344G>T	13.37:g.32722036G>T	ENSP00000369600:p.Arg448Ser					FRY_uc010tdw.1_RNA	p.R448S	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	13	1840	+		Lung SC(185;0.0271)	448					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.1344G>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212397	0.58452	.	.	ENSG00000073910	ENST00000380250;ENST00000267067	T	0.23754	1.89	5.68	3.56	0.40772	.	0.000000	0.85682	D	0.000000	T	0.30262	0.0759	M	0.84219	2.685	0.80722	D	1	B	0.31790	0.34	B	0.32928	0.155	T	0.22695	-1.0209	10	0.87932	D	0	.	6.3477	0.21359	0.3935:0.0:0.6065:0.0	.	448	Q5TBA9	FRY_HUMAN	S	448;376	ENSP00000369600:R448S	ENSP00000267067:R376S	R	+	3	2	FRY	31620036	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.824000	0.48088	1.361000	0.45981	0.585000	0.79938	AGG		PASS	0.468	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		28	116	28	116	---	---	---	---
NUFIP1	26747	broad.mit.edu	37	13	45533569	45533569	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr13:45533569C>G	ENST00000379161.4	-	7	1014	c.968G>C	c.(967-969)gGt>gCt	p.G323A		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	323					box C/D snoRNP assembly (GO:0000492)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA processing (GO:0006396)	cytosolic ribosome (GO:0022626)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|pre-snoRNP complex (GO:0070761)|presynaptic active zone (GO:0048786)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)	p.G323A(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		CTCCGGTGGACCTTCTAGCTT	0.403																																						uc001uzp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(967-969)GGT>GCT		nuclear fragile X mental retardation protein							206.0	184.0	192.0					13																	45533569		2203	4300	6503	SO:0001583	missense	26747				box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding	g.chr13:45533569C>G	AF159548	CCDS9393.1	13q14	2008-02-05			ENSG00000083635	ENSG00000083635			8057	protein-coding gene	gene with protein product		604354				10556305, 10894927	Standard	NM_012345		Approved	NUFIP	uc001uzp.2	Q9UHK0	OTTHUMG00000016842	ENST00000379161.4:c.968G>C	13.37:g.45533569C>G	ENSP00000368459:p.Gly323Ala						p.G323A	NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)	7	1010	-		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	323					Q8WVM5|Q96SG1	Missense_Mutation	SNP	ENST00000379161.4	37	c.968G>C	CCDS9393.1	.	.	.	.	.	.	.	.	.	.	C	0.252	-1.006089	0.02112	.	.	ENSG00000083635	ENST00000379161	T	0.44083	0.93	4.97	0.952	0.19584	.	1.463340	0.03578	N	0.229716	T	0.29126	0.0724	L	0.36672	1.1	0.09310	N	1	B	0.16603	0.018	B	0.14023	0.01	T	0.09228	-1.0684	10	0.08381	T	0.77	-0.0028	3.5373	0.07798	0.1807:0.5076:0.0:0.3117	.	323	Q9UHK0	NUFP1_HUMAN	A	323	ENSP00000368459:G323A	ENSP00000368459:G323A	G	-	2	0	NUFIP1	44431569	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.190000	0.09615	-0.081000	0.12662	0.637000	0.83480	GGT		PASS	0.403	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044755.2	NM_012345		37	187	37	187	---	---	---	---
DACH1	1602	broad.mit.edu	37	13	72204792	72204792	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr13:72204792G>A	ENST00000359684.2	-	3	1027	c.1028C>T	c.(1027-1029)gCa>gTa	p.A343V	DACH1_ENST00000305425.4_Missense_Mutation_p.A343V|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Missense_Mutation_p.A343V			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	343	Interaction with SIX6 and HDAC3. {ECO:0000250}.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)	p.A343V(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CACCTTCATTGCTTcagcaat	0.398																																						uc010thn.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1021-1023)GCA>GTA		dachshund homolog 1 isoform a							155.0	141.0	145.0					13																	72204792		1833	4085	5918	SO:0001583	missense	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72204792G>A	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1028C>T	13.37:g.72204792G>A	ENSP00000352712:p.Ala343Val					DACH1_uc010tho.1_Missense_Mutation_p.A341V|DACH1_uc010thp.1_Intron	p.A341V	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	4	1445	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	341			Interaction with SIX6 and HDAC3 (By similarity).		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	ENST00000359684.2	37	c.1022C>T		.	.	.	.	.	.	.	.	.	.	G	33	5.282982	0.95489	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000359684;ENST00000377826	T;T;T	0.38887	1.11;1.13;1.11	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.66626	0.2808	M	0.72894	2.215	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.994	T	0.65356	-0.6188	10	0.56958	D	0.05	-8.3592	20.3736	0.98901	0.0:0.0:1.0:0.0	.	341;341	Q9UI36-3;Q9UI36-2	.;.	V	343	ENSP00000304994:A343V;ENSP00000318506:A343V;ENSP00000352712:A343V	ENSP00000304994:A343V	A	-	2	0	DACH1	71102793	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.357000	0.97099	2.820000	0.97059	0.650000	0.86243	GCA		PASS	0.398	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		17	233	17	233	---	---	---	---
KLF5	688	broad.mit.edu	37	13	73636282	73636282	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr13:73636282C>T	ENST00000377687.4	+	2	1081	c.545C>T	c.(544-546)cCg>cTg	p.P182L	KLF5_ENST00000539231.1_Missense_Mutation_p.P91L|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	182					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	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)	p.P182L(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CCTCCGGCCCCGACCCAGGCC	0.527																																						uc001vje.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|pancreas(1)	3						c.(544-546)CCG>CTG		Kruppel-like factor 5							65.0	68.0	67.0					13																	73636282		2203	4300	6503	SO:0001583	missense	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73636282C>T	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.545C>T	13.37:g.73636282C>T	ENSP00000366915:p.Pro182Leu					KLF5_uc001vjd.2_Missense_Mutation_p.P91L	p.P182L	NM_001730	NP_001721	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	2	869	+		Prostate(6;0.00187)|Breast(118;0.0735)	182					L0R3U5|L0R4T9|Q9UHP8	Missense_Mutation	SNP	ENST00000377687.4	37	c.545C>T	CCDS9448.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.493978	0.64186	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.08102	3.32;3.13	5.94	4.15	0.48705	.	0.218902	0.47852	D	0.000219	T	0.08403	0.0209	L	0.49350	1.555	0.80722	D	1	P	0.44006	0.824	B	0.30495	0.116	T	0.08722	-1.0708	10	0.52906	T	0.07	.	15.1844	0.72989	0.2597:0.7403:0.0:0.0	.	182	Q13887	KLF5_HUMAN	L	91;182;162	ENSP00000440407:P91L;ENSP00000366915:P182L	ENSP00000366915:P182L	P	+	2	0	KLF5	72534283	0.994000	0.37717	0.985000	0.45067	0.980000	0.70556	3.227000	0.51262	0.785000	0.33685	0.561000	0.74099	CCG		PASS	0.527	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1			28	118	28	118	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88329495	88329495	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr13:88329495G>A	ENST00000325089.6	+	2	2071	c.1852G>A	c.(1852-1854)Gta>Ata	p.V618I	SLITRK5_ENST00000400028.3_Missense_Mutation_p.V377I	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	618					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.V618I(1)		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)					CTATTCAGATGTAGTAGTTTC	0.597																																						uc001vln.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(1852-1854)GTA>ATA		SLIT and NTRK-like family, member 5 precursor							141.0	132.0	135.0					13																	88329495		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88329495G>A	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.1852G>A	13.37:g.88329495G>A	ENSP00000366283:p.Val618Ile					SLITRK5_uc010tic.1_Missense_Mutation_p.V377I	p.V618I	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	2071	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		618			Extracellular (Potential).		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.1852G>A	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	2.999	-0.206551	0.06180	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.57907	0.37;0.71	5.47	4.62	0.57501	.	0.500998	0.20530	N	0.090527	T	0.37892	0.1020	L	0.34521	1.04	0.36363	D	0.860858	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.002	T	0.34750	-0.9816	9	.	.	.	-9.6765	8.2545	0.31746	0.1787:0.0:0.8213:0.0	.	377;618	B4DSH5;O94991	.;SLIK5_HUMAN	I	618;377	ENSP00000366283:V618I;ENSP00000442244:V377I	.	V	+	1	0	SLITRK5	87127496	0.952000	0.32445	0.960000	0.40013	0.738000	0.42128	1.688000	0.37690	1.299000	0.44798	0.555000	0.69702	GTA		PASS	0.597	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			21	179	21	179	---	---	---	---
FGF14	2259	broad.mit.edu	37	13	102527548	102527548	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr13:102527548T>A	ENST00000376143.4	-	2	291	c.292A>T	c.(292-294)Agc>Tgc	p.S98C	FGF14_ENST00000376131.4_Missense_Mutation_p.S103C|FGF14_ENST00000468052.1_5'UTR	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	98					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.S98C(1)|p.S103C(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GAATTAGTGCTGTCATCCTTG	0.433																																						uc001vpe.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|large_intestine(1)	4						c.(292-294)AGC>TGC		fibroblast growth factor 14 isoform 1A							174.0	150.0	158.0					13																	102527548		2203	4300	6503	SO:0001583	missense	2259				cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	g.chr13:102527548T>A		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.292A>T	13.37:g.102527548T>A	ENSP00000365313:p.Ser98Cys					FGF14_uc001vpf.2_Missense_Mutation_p.S103C	p.S98C	NM_004115	NP_004106	Q92915	FGF14_HUMAN			2	292	-	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		98					Q86YN7|Q96QX6	Missense_Mutation	SNP	ENST00000376143.4	37	c.292A>T	CCDS9501.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.079724	0.76528	.	.	ENSG00000102466	ENST00000376131;ENST00000376143	T;T	0.69561	-0.41;-0.41	5.51	5.51	0.81932	.	0.117824	0.85682	D	0.000000	T	0.76062	0.3935	L	0.46157	1.445	0.58432	D	0.999998	D;D	0.62365	0.989;0.991	D;D	0.64506	0.917;0.926	T	0.78610	-0.2137	10	0.87932	D	0	.	15.9209	0.79570	0.0:0.0:0.0:1.0	.	103;98	Q92915-2;Q92915	.;FGF14_HUMAN	C	103;98	ENSP00000365301:S103C;ENSP00000365313:S98C	ENSP00000365301:S103C	S	-	1	0	FGF14	101325549	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.768000	0.62293	2.210000	0.71456	0.533000	0.62120	AGC		PASS	0.433	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045679.2			10	76	10	76	---	---	---	---
EFNB2	1948	broad.mit.edu	37	13	107187250	107187250	+	Silent	SNP	T	T	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr13:107187250T>C	ENST00000245323.4	-	1	212	c.63A>G	c.(61-63)agA>agG	p.R21R		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	21					anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)	p.R21R(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					AAATCGCAGTTCTGCATAAAA	0.557																																						uc001vqi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(61-63)AGA>AGG		ephrin B2 precursor							89.0	95.0	93.0					13																	107187250		2202	4300	6502	SO:0001819	synonymous_variant	1948				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding	g.chr13:107187250T>C	L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"""Ephrins"""	3227	protein-coding gene	gene with protein product	"""HTK ligand"", ""ligand of eph-related kinase 5"", ""eph-related receptor tyrosine kinase ligand 5"""	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.63A>G	13.37:g.107187250T>C							p.R21R	NM_004093	NP_004084	P52799	EFNB2_HUMAN			1	88	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		21					Q5JV56	Silent	SNP	ENST00000245323.4	37	c.63A>G	CCDS9507.1																																																																																				PASS	0.557	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045733.4	NM_004093		6	47	6	47	---	---	---	---
OR4M1	441670	broad.mit.edu	37	14	20249325	20249325	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr14:20249325C>T	ENST00000315957.4	+	1	925	c.844C>T	c.(844-846)Cct>Tct	p.P282S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P282S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTAATATTCCCTTTACTTAA	0.383																																						uc010tku.1																			1	Substitution - Missense(1)		lung(1)		0						c.(844-846)CCT>TCT		olfactory receptor, family 4, subfamily M,							132.0	130.0	131.0					14																	20249325		2203	4300	6503	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20249325C>T		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.844C>T	14.37:g.20249325C>T	ENSP00000319654:p.Pro282Ser						p.P282S	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	844	+	all_cancers(95;0.00108)		282			Helical; Name=7; (Potential).		B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.844C>T	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	15.81	2.944268	0.53079	.	.	ENSG00000176299	ENST00000315957	T	0.00330	8.08	4.42	3.52	0.40303	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000149	T	0.00666	0.0022	M	0.91354	3.2	0.40442	D	0.980056	P	0.35527	0.507	P	0.45610	0.487	T	0.56074	-0.8039	10	0.87932	D	0	-12.8675	11.6893	0.51505	0.1782:0.8218:0.0:0.0	.	282	Q8NGD0	OR4M1_HUMAN	S	282	ENSP00000319654:P282S	ENSP00000319654:P282S	P	+	1	0	OR4M1	19319165	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	5.333000	0.65917	1.199000	0.43173	0.506000	0.49869	CCT		PASS	0.383	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			29	204	29	204	---	---	---	---
OR4K17	390436	broad.mit.edu	37	14	20586279	20586279	+	Silent	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr14:20586279C>T	ENST00000315543.4	+	1	714	c.714C>T	c.(712-714)tcC>tcT	p.S238S		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S238S(1)		kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GCATAATCTCCCTGAGCTGTT	0.408																																						uc001vwo.1																			1	Substitution - coding silent(1)		lung(1)	skin(3)	3						c.(712-714)TCC>TCT		olfactory receptor, family 4, subfamily K,							165.0	158.0	160.0					14																	20586279		2203	4300	6503	SO:0001819	synonymous_variant	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20586279C>T		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.714C>T	14.37:g.20586279C>T							p.S238S	NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	714	+	all_cancers(95;0.00108)		210			Helical; Name=5; (Potential).		Q6IF12	Silent	SNP	ENST00000315543.4	37	c.714C>T	CCDS32030.1																																																																																				PASS	0.408	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			99	341	99	341	---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23866269	23866270	+	Missense_Mutation	DNP	CC	CC	AA	rs148915045	byFrequency	TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr14:23866269_23866270CC>AA	ENST00000356287.3	-	17	2099_2100	c.2070_2071GG>TT	c.(2068-2073)ctGGtc>ctTTtc	p.V691F	MYH6_ENST00000405093.3_Missense_Mutation_p.V691F			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	691	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.V691F(2)|p.L690L(1)		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)		TGGTGCATGACCAGGGGGTTGT	0.614																																						uc001wjv.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	pancreas(2)|ovary(1)|skin(1)	4						c.(2071-2073)GTC>TTC|c.(2068-2070)CTG>CTT		myosin heavy chain 6																																				SO:0001583	missense	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.chr14:23866269C>A|g.chr14:23866270C>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.2070_2071delinsAA	14.37:g.23866269_23866270delinsAA	ENSP00000348634:p.Val691Phe						p.V691F|p.L690L	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	18	2138|2137	-	all_cancers(95;2.54e-05)		691|690			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation|Silent	SNP	ENST00000356287.3	37	c.2071G>T|c.2070G>T	CCDS9600.1																																																																																				PASS	0.614	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			28	103|107	28	103	---	---	---	---
EMC9	51016	broad.mit.edu	37	14	24610496	24610496	+	Silent	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr14:24610496G>A	ENST00000419198.2	-	1	298	c.18C>T	c.(16-18)atC>atT	p.I6I	EMC9_ENST00000558200.1_5'UTR|RP11-468E2.5_ENST00000558478.1_lincRNA|EMC9_ENST00000560403.1_Intron|EMC9_ENST00000216799.4_Silent_p.I6I|PSME2_ENST00000471700.2_5'Flank			Q9Y3B6	EMC9_HUMAN	ER membrane protein complex subunit 9	6						cytoplasm (GO:0005737)|ER membrane protein complex (GO:0072546)		p.I6I(1)									CCAGGGCCGAGATCTCCACCT	0.652											OREG0022618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001wmi.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(16-18)ATC>ATT		hypothetical protein LOC51016							65.0	61.0	62.0					14																	24610496		2203	4300	6503	SO:0001819	synonymous_variant	51016							g.chr14:24610496G>A	BF346999	CCDS9613.1	14q12	2012-05-30	2012-05-30	2012-05-30	ENSG00000100908	ENSG00000100908			20273	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 122"", ""family with sequence similarity 158, member A"""	C14orf122, FAM158A		22119785	Standard	NM_016049		Approved	CGI-112	uc001wmi.3	Q9Y3B6	OTTHUMG00000028796	ENST00000419198.2:c.18C>T	14.37:g.24610496G>A			OREG0022618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	772		p.I6I	NM_016049	NP_057133	Q9Y3B6	F158A_HUMAN			2	181	-			6					D3DS60|Q9BUM3	Silent	SNP	ENST00000419198.2	37	c.18C>T	CCDS9613.1																																																																																				PASS	0.652	EMC9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071917.4	NM_016049		16	84	16	84	---	---	---	---
FOXG1	2290	broad.mit.edu	37	14	29237890	29237890	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr14:29237890G>T	ENST00000313071.4	+	1	1604	c.1405G>T	c.(1405-1407)Ggg>Tgg	p.G469W	FOXG1_ENST00000382535.3_Missense_Mutation_p.G469W	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	469					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|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.G469W(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GGGACTGTCTGGGGGACTGTC	0.532																																						uc001wqe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)	4						c.(1405-1407)GGG>TGG		forkhead box G1							87.0	87.0	87.0					14																	29237890		2203	4300	6503	SO:0001583	missense	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237890G>T		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1405G>T	14.37:g.29237890G>T	ENSP00000339004:p.Gly469Trp						p.G469W	NM_005249	NP_005240	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	1	1604	+			469					A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.1405G>T	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291678	0.40594	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.94417	-3.42;-3.42	3.98	3.98	0.46160	.	0.133520	0.49916	U	0.000134	D	0.93507	0.7928	N	0.19112	0.55	0.42010	D	0.990934	D	0.63046	0.992	P	0.58577	0.841	D	0.95091	0.8222	10	0.87932	D	0	.	16.4405	0.83900	0.0:0.0:1.0:0.0	.	469	P55316	FOXG1_HUMAN	W	469	ENSP00000371975:G469W;ENSP00000339004:G469W	ENSP00000339004:G469W	G	+	1	0	FOXG1	28307641	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.079000	0.71291	1.928000	0.55862	0.491000	0.48974	GGG		PASS	0.532	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			46	161	46	161	---	---	---	---
KCNH5	27133	broad.mit.edu	37	14	63269063	63269063	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr14:63269063C>A	ENST00000322893.7	-	9	2074	c.1806G>T	c.(1804-1806)gaG>gaT	p.E602D	KCNH5_ENST00000394968.1_Missense_Mutation_p.E544D|KCNH5_ENST00000420622.2_Missense_Mutation_p.E602D	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	602					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.E602D(1)|p.E544D(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TAGCCACCACCTCATCATCCT	0.423																																						uc001xfx.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(1804-1806)GAG>GAT		potassium voltage-gated channel, subfamily H,							104.0	93.0	97.0					14																	63269063		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63269063C>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1806G>T	14.37:g.63269063C>A	ENSP00000321427:p.Glu602Asp					KCNH5_uc001xfy.2_Missense_Mutation_p.E602D|KCNH5_uc001xfz.1_Missense_Mutation_p.E544D	p.E602D	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	9	1857	-			602			cNMP.|Cytoplasmic (Potential).		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.1806G>T	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971070	0.53614	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968	D;D;D	0.97016	-4.21;-4.21;-4.21	5.03	5.03	0.67393	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.96793	0.8953	L	0.46947	1.48	0.80722	D	1	P;P;D	0.71674	0.663;0.907;0.998	B;P;D	0.70016	0.346;0.801;0.967	D	0.96726	0.9536	10	0.62326	D	0.03	.	13.1027	0.59228	0.0:0.9223:0.0:0.0777	.	544;602;602	Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;KCNH5_HUMAN	D	602;602;544	ENSP00000321427:E602D;ENSP00000395439:E602D;ENSP00000378419:E544D	ENSP00000321427:E602D	E	-	3	2	KCNH5	62338816	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.038000	0.57318	2.507000	0.84556	0.563000	0.77884	GAG		PASS	0.423	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		4	145	4	145	---	---	---	---
GALNT16	57452	broad.mit.edu	37	14	69798220	69798220	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr14:69798220A>T	ENST00000337827.4	+	7	1057	c.730A>T	c.(730-732)Agt>Tgt	p.S244C	GALNT16_ENST00000448469.3_Missense_Mutation_p.S244C|GALNT16_ENST00000553669.1_Missense_Mutation_p.S244C	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	244					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.S244C(1)									TGATGTCATCAGTCTGGATAA	0.542																																						uc010aqu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(730-732)AGT>TGT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							269.0	218.0	235.0					14																	69798220		2203	4300	6503	SO:0001583	missense	57452					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr14:69798220A>T	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.730A>T	14.37:g.69798220A>T	ENSP00000336729:p.Ser244Cys					GALNTL1_uc001xla.1_Missense_Mutation_p.S244C|GALNTL1_uc001xlb.1_Missense_Mutation_p.S244C	p.S244C	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN		all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)	7	823	+			244			Lumenal (Potential).		Q4KMG3|Q58A55|Q9ULT9	Missense_Mutation	SNP	ENST00000337827.4	37	c.730A>T	CCDS32107.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.916306	0.92249	.	.	ENSG00000100626	ENST00000337827;ENST00000448469;ENST00000553669	T;T;T	0.60040	0.22;0.22;0.22	5.54	5.54	0.83059	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.76779	0.4035	M	0.78223	2.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.80243	-0.1463	10	0.87932	D	0	.	15.6722	0.77286	1.0:0.0:0.0:0.0	.	244;244	Q8N428;Q58A55	GLTL1_HUMAN;.	C	244	ENSP00000336729:S244C;ENSP00000402970:S244C;ENSP00000451200:S244C	ENSP00000336729:S244C	S	+	1	0	GALNTL1	68867973	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.101000	0.94219	2.107000	0.64212	0.379000	0.24179	AGT		PASS	0.542	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		113	322	113	322	---	---	---	---
DPF3	8110	broad.mit.edu	37	14	73220073	73220073	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr14:73220073G>T	ENST00000556509.1	-	3	199	c.200C>A	c.(199-201)gCc>gAc	p.A67D	DPF3_ENST00000541685.1_Missense_Mutation_p.A67D|DPF3_ENST00000546183.1_Missense_Mutation_p.A77D	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	67					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)	p.A67D(2)|p.A66D(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTGGCCCGGGGCAAGGCCTGT	0.537																																						uc001xnc.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(199-201)GCC>GAC		D4, zinc and double PHD fingers, family 3							34.0	33.0	33.0					14																	73220073		1882	4120	6002	SO:0001583	missense	8110				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding	g.chr14:73220073G>T	U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.200C>A	14.37:g.73220073G>T	ENSP00000450518:p.Ala67Asp					DPF3_uc001xnf.2_RNA|DPF3_uc010ari.1_Missense_Mutation_p.A67D|DPF3_uc010ttq.1_Missense_Mutation_p.A77D	p.A67D	NM_012074	NP_036206	Q92784	DPF3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	3	213	-			67					A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Missense_Mutation	SNP	ENST00000556509.1	37	c.200C>A		.	.	.	.	.	.	.	.	.	.	G	17.55	3.417942	0.62622	.	.	ENSG00000205683	ENST00000540281;ENST00000556509;ENST00000398816;ENST00000541685;ENST00000546183	D;T;T	0.90504	-2.68;-0.15;-0.14	5.43	4.54	0.55810	.	.	.	.	.	D	0.93429	0.7904	L	0.56769	1.78	0.58432	D	0.999997	D;D;D	0.76494	0.996;0.983;0.999	D;P;D	0.81914	0.948;0.858;0.995	D	0.93558	0.6892	9	0.87932	D	0	.	11.5192	0.50541	0.0849:0.0:0.9151:0.0	.	77;67;67	F5H575;Q92784-2;Q92784	.;.;DPF3_HUMAN	D	67;67;66;67;77	ENSP00000450518:A67D;ENSP00000441640:A67D;ENSP00000444662:A77D	ENSP00000381791:A122D	A	-	2	0	DPF3	72289826	1.000000	0.71417	0.268000	0.24571	0.990000	0.78478	7.180000	0.77674	1.299000	0.44798	0.561000	0.74099	GCC		PASS	0.537	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2			9	26	9	26	---	---	---	---
ATG2B	55102	broad.mit.edu	37	14	96768355	96768355	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr14:96768355T>A	ENST00000359933.4	-	34	6021	c.5128A>T	c.(5128-5130)Aat>Tat	p.N1710Y	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1710					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.N1710Y(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGGTCAATATTGAGGCGGAGC	0.453																																						uc001yfi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(5128-5130)AAT>TAT		ATG2 autophagy related 2 homolog B							73.0	63.0	67.0					14																	96768355		2203	4300	6503	SO:0001583	missense	55102							g.chr14:96768355T>A	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.5128A>T	14.37:g.96768355T>A	ENSP00000353010:p.Asn1710Tyr						p.N1710Y	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	34	5493	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1710					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.5128A>T	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	T	29.9	5.049662	0.93740	.	.	ENSG00000066739	ENST00000359933	T	0.15834	2.39	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.40909	0.1136	M	0.62016	1.91	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.14671	-1.0464	10	0.59425	D	0.04	.	16.3541	0.83228	0.0:0.0:0.0:1.0	.	1710	Q96BY7	ATG2B_HUMAN	Y	1710	ENSP00000353010:N1710Y	ENSP00000261834:N354Y	N	-	1	0	ATG2B	95838108	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.411000	0.80078	2.323000	0.78572	0.533000	0.62120	AAT		PASS	0.453	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		17	49	17	49	---	---	---	---
C14orf177	283598	broad.mit.edu	37	14	99183499	99183499	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr14:99183499C>T	ENST00000325812.2	+	4	685	c.266C>T	c.(265-267)cCa>cTa	p.P89L		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	89								p.P89L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				GAAACTTCTCCAGGGTCATGT	0.438																																						uc001yfz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(265-267)CCA>CTA		hypothetical protein LOC283598							129.0	107.0	114.0					14																	99183499		2203	4300	6503	SO:0001583	missense	283598							g.chr14:99183499C>T	AK098639	CCDS9948.1	14q32.2	2012-05-30			ENSG00000176605	ENSG00000176605			26375	protein-coding gene	gene with protein product						12477932	Standard	NM_182560		Approved	FLJ25773	uc001yfz.2	Q52M58	OTTHUMG00000167745	ENST00000325812.2:c.266C>T	14.37:g.99183499C>T	ENSP00000321360:p.Pro89Leu						p.P89L	NM_182560	NP_872366	Q52M58	CN177_HUMAN			4	685	+		Melanoma(154;0.128)	89					Q8N7D2	Missense_Mutation	SNP	ENST00000325812.2	37	c.266C>T	CCDS9948.1	.	.	.	.	.	.	.	.	.	.	C	9.261	1.043233	0.19748	.	.	ENSG00000176605	ENST00000325812	T	0.42131	0.98	3.12	0.187	0.15109	.	.	.	.	.	T	0.20251	0.0487	N	0.08118	0	0.09310	N	1	B	0.23650	0.089	B	0.18871	0.023	T	0.18713	-1.0328	9	0.87932	D	0	.	5.2575	0.15555	0.0:0.5717:0.0:0.4283	.	89	Q52M58	CN177_HUMAN	L	89	ENSP00000321360:P89L	ENSP00000321360:P89L	P	+	2	0	C14orf177	98253252	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.114000	0.10757	0.020000	0.15106	0.655000	0.94253	CCA		PASS	0.438	C14orf177-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396078.1	NM_182560		33	133	33	133	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105412132	105412132	+	Missense_Mutation	SNP	C	C	G	rs199611380	byFrequency	TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr14:105412132C>G	ENST00000333244.5	-	7	9775	c.9656G>C	c.(9655-9657)gGa>gCa	p.G3219A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3219						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.G3219A(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGGCCAGCTCCCTCGAGAAC	0.597																																						uc010axc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(9655-9657)GGA>GCA		AHNAK nucleoprotein 2							113.0	73.0	86.0					14																	105412132		1910	4045	5955	SO:0001583	missense	113146					nucleus		g.chr14:105412132C>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9656G>C	14.37:g.105412132C>G	ENSP00000353114:p.Gly3219Ala					AHNAK2_uc001ypx.2_Missense_Mutation_p.G3119A	p.G3219A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	9776	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3219					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.9656G>C	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	10.61	1.398277	0.25205	.	.	ENSG00000185567	ENST00000333244	T	0.03212	4.01	2.67	1.72	0.24424	.	.	.	.	.	T	0.11965	0.0291	M	0.83483	2.645	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.24154	-1.0168	9	0.02654	T	1	.	5.6284	0.17495	0.0:0.827:0.0:0.173	.	3219	Q8IVF2	AHNK2_HUMAN	A	3219	ENSP00000353114:G3219A	ENSP00000353114:G3219A	G	-	2	0	AHNAK2	104483177	0.000000	0.05858	0.083000	0.20561	0.022000	0.10575	0.504000	0.22626	1.318000	0.45170	0.205000	0.17691	GGA		PASS	0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		4	168	4	168	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28501024	28501025	+	Missense_Mutation	DNP	CT	CT	TC			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr15:28501024_28501025CT>TC	ENST00000261609.7	-	19	2972_2973	c.2864_2865AG>GA	c.(2863-2865)gAG>gGA	p.E955G		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.E955G(2)|p.E955E(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATACCTGGATCTCTGCAGTAAT	0.485																																						uc001zbj.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(2863-2865)GAG>GAA|c.(2863-2865)GAG>GGG		hect domain and RLD 2																																				SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28501024C>T|g.chr15:28501025T>C	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.2864_2865delinsTC	15.37:g.28501024_28501025delinsTC	ENSP00000261609:p.Glu955Gly					HERC2_uc001zbl.1_Silent_p.E650E|HERC2_uc001zbl.1_Missense_Mutation_p.E650G	p.E955E|p.E955G	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	19	2971|2970	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	955			Potential.			Silent|Missense_Mutation	SNP	ENST00000261609.7	37	c.2865G>A|c.2864A>G	CCDS10021.1																																																																																				PASS	0.485	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		29|28	67|65	28	65	---	---	---	---
ZNF770	54989	broad.mit.edu	37	15	35273851	35273851	+	Silent	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr15:35273851G>A	ENST00000356321.4	-	3	2129	c.1785C>T	c.(1783-1785)ccC>ccT	p.P595P		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	595					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.P595P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TAGGAAGACAGGGTTGCCCGG	0.443																																						uc001ziw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1783-1785)CCC>CCT		zinc finger protein 770							110.0	111.0	111.0					15																	35273851		2201	4298	6499	SO:0001819	synonymous_variant	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35273851G>A	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.1785C>T	15.37:g.35273851G>A							p.P595P	NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	3	2096	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	595					Q6ZMZ6|Q9NWV2	Silent	SNP	ENST00000356321.4	37	c.1785C>T	CCDS10042.1																																																																																				PASS	0.443	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		49	292	49	292	---	---	---	---
TTBK2	146057	broad.mit.edu	37	15	43067484	43067484	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr15:43067484A>G	ENST00000267890.6	-	13	1955	c.1847T>C	c.(1846-1848)gTg>gCg	p.V616A		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	616					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.V616A(1)		NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TGCTAAGACCACACCTGAGGT	0.468																																						uc001zqo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7						c.(1846-1848)GTG>GCG		tau tubulin kinase 2							124.0	120.0	121.0					15																	43067484		1882	4110	5992	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43067484A>G	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.1847T>C	15.37:g.43067484A>G	ENSP00000267890:p.Val616Ala					TTBK2_uc010bcy.2_Missense_Mutation_p.V547A	p.V616A	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	13	2286	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	616					O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.1847T>C	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	A	12.13	1.846805	0.32606	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.39406	1.08	5.77	4.66	0.58398	.	0.119537	0.37577	N	0.002027	T	0.37679	0.1012	L	0.56769	1.78	0.80722	D	1	B;B	0.12013	0.005;0.002	B;B	0.16289	0.015;0.003	T	0.26815	-1.0092	10	0.42905	T	0.14	.	9.3234	0.37977	0.8641:0.0:0.1359:0.0	.	547;616	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	A	616;546;1021	ENSP00000267890:V616A	ENSP00000263802:V1021A	V	-	2	0	TTBK2	40854776	0.996000	0.38824	1.000000	0.80357	0.831000	0.47069	2.329000	0.43876	2.201000	0.70794	0.528000	0.53228	GTG		PASS	0.468	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		34	265	34	265	---	---	---	---
CCNDBP1	23582	broad.mit.edu	37	15	43484984	43484984	+	Silent	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr15:43484984C>T	ENST00000300213.4	+	9	1146	c.904C>T	c.(904-906)Ctg>Ttg	p.L302L	CCNDBP1_ENST00000356633.5_Silent_p.L141L|EPB42_ENST00000563128.1_Intron	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1	302	Interaction with RPLP0.|Interaction with TCF3.				cell cycle (GO:0007049)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L302L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		TATGTGTCACCTGACCGTGCG	0.398																																						uc001zqv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)	2						c.(904-906)CTG>TTG		cyclin D-type binding-protein 1 isoform 1							212.0	180.0	191.0					15																	43484984		2203	4299	6502	SO:0001819	synonymous_variant	23582				cell cycle	cytoplasm|nucleus	protein binding	g.chr15:43484984C>T	AF082569	CCDS10092.1	15q14-q15	2008-07-18			ENSG00000166946	ENSG00000166946			1587	protein-coding gene	gene with protein product	"""D-type cyclin-interacting protein 1"", ""MAID protein"", ""HHM Protein"", ""grap2 cyclin interacting protein"""	607089				10801854	Standard	NM_012142		Approved	DIP1, GCIP	uc001zqv.3	O95273	OTTHUMG00000130703	ENST00000300213.4:c.904C>T	15.37:g.43484984C>T						CCNDBP1_uc001zqu.2_Silent_p.L174L|CCNDBP1_uc010bdc.2_Silent_p.L302L|CCNDBP1_uc010bdb.2_Silent_p.L174L|CCNDBP1_uc010udl.1_Silent_p.L141L|CCNDBP1_uc001zqw.2_RNA|CCNDBP1_uc001zqx.2_Silent_p.L174L|CCNDBP1_uc010bdd.2_Silent_p.L174L|CCNDBP1_uc001zqy.2_Silent_p.L174L	p.L302L	NM_012142	NP_036274	O95273	CCDB1_HUMAN		GBM - Glioblastoma multiforme(94;8.42e-07)	9	1135	+		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	302			Interaction with TCF3.|Interaction with RPLP0.		A8K3Q0|A8K3U2|Q6ZQN9|Q7Z519|Q8NBS7|Q8NBY2|Q9NS19|Q9NYH3|Q9UHX9	Silent	SNP	ENST00000300213.4	37	c.904C>T	CCDS10092.1																																																																																				PASS	0.398	CCNDBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253203.1	NM_012142		23	171	23	171	---	---	---	---
PPIP5K1	9677	broad.mit.edu	37	15	43827232	43827232	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr15:43827232G>C	ENST00000396923.3	-	30	4063	c.3942C>G	c.(3940-3942)agC>agG	p.S1314R	PPIP5K1_ENST00000360301.4_Missense_Mutation_p.S1289R|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.S1287R|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.S1310R|PPIP5K1_ENST00000420765.1_Missense_Mutation_p.S1314R|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.S1290R|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.S1287R|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.S1289R			Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1314					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)	p.S1314R(1)		large_intestine(1)	1						GGCACAGTTGGCTGGACTTCT	0.567																																						uc001zrw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3940-3942)AGC>AGG		histidine acid phosphatase domain containing 2A							135.0	129.0	131.0					15																	43827232		2201	4298	6499	SO:0001583	missense	9677				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr15:43827232G>C	AF502586	CCDS32215.1, CCDS45252.1, CCDS53937.1	15q15.3	2010-01-27	2010-01-26	2010-01-26	ENSG00000168781	ENSG00000168781	2.7.4.24		29023	protein-coding gene	gene with protein product		610979	"""histidine acid phosphatase domain containing 2A"""	HISPPD2A		17412958, 17690096, 18981179	Standard	NM_001190214		Approved	KIAA0377, IPS1, VIP1	uc001zrw.3	Q6PFW1	OTTHUMG00000059758	ENST00000396923.3:c.3942C>G	15.37:g.43827232G>C	ENSP00000380129:p.Ser1314Arg					PPIP5K1_uc001zrx.1_Missense_Mutation_p.S1287R|PPIP5K1_uc001zru.2_Missense_Mutation_p.S1289R|PPIP5K1_uc001zry.3_Missense_Mutation_p.S1289R|PPIP5K1_uc001zrv.2_Missense_Mutation_p.S1075R	p.S1314R	NM_001130858	NP_001124330	Q6PFW1	VIP1_HUMAN			31	4125	-			1314					O15082|Q5HYF8|Q7Z3A7|Q86TE7|Q86UV3|Q86UV4|Q86XW8|Q8IZN0	Missense_Mutation	SNP	ENST00000396923.3	37	c.3942C>G	CCDS45252.1	.	.	.	.	.	.	.	.	.	.	G	8.312	0.822339	0.16678	.	.	ENSG00000168781	ENST00000381885;ENST00000360301;ENST00000360135;ENST00000334933;ENST00000396923;ENST00000304953;ENST00000381878;ENST00000420765;ENST00000381879;ENST00000348806;ENST00000335092	T;T;T;T;T;T;T;T	0.25579	1.8;1.84;2.33;1.84;1.79;1.79;1.79;2.33	5.44	1.2	0.21068	.	0.717186	0.12287	N	0.482392	T	0.19805	0.0476	L	0.48642	1.525	0.09310	N	1	B;B;B;B	0.31548	0.328;0.181;0.277;0.277	B;B;B;B	0.32289	0.143;0.03;0.067;0.067	T	0.18429	-1.0337	10	0.39692	T	0.17	0.0086	5.0677	0.14591	0.2558:0.2465:0.4976:0.0	.	1287;1314;1311;1289	Q6PFW1-7;Q6PFW1;Q6PFW1-2;Q6PFW1-3	.;VIP1_HUMAN;.;.	R	1310;1289;1287;1289;1314;1314;1289;1314;1290;1287;1076	ENSP00000371309:S1310R;ENSP00000353446:S1289R;ENSP00000353253:S1287R;ENSP00000334779:S1289R;ENSP00000380129:S1314R;ENSP00000400887:S1314R;ENSP00000371303:S1290R;ENSP00000308773:S1287R	ENSP00000304750:S1314R	S	-	3	2	PPIP5K1	41614524	0.001000	0.12720	0.019000	0.16419	0.738000	0.42128	0.082000	0.14847	0.681000	0.31386	-0.244000	0.11960	AGC		PASS	0.567	PPIP5K1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132907.1	NM_014659		51	153	51	153	---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48782253	48782253	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr15:48782253G>C	ENST00000316623.5	-	25	3332	c.2877C>G	c.(2875-2877)ttC>ttG	p.F959L		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	959	TB 5.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.F959L(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CGTACCTCAGGAAGCAGGTTT	0.587																																						uc001zwx.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(2875-2877)TTC>TTG		fibrillin 1 precursor							46.0	42.0	43.0					15																	48782253		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48782253G>C	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2877C>G	15.37:g.48782253G>C	ENSP00000325527:p.Phe959Leu						p.F959L	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	25	3205	-		all_lung(180;0.00279)	959			TB 5.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.2877C>G	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.672356	0.67928	.	.	ENSG00000166147	ENST00000316623	D	0.94723	-3.5	5.66	5.66	0.87406	Matrix fibril-associated (2);TGF-beta binding (1);	0.166703	0.56097	D	0.000038	D	0.93805	0.8019	M	0.68952	2.095	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	D	0.90126	0.4203	10	0.45353	T	0.12	.	19.3266	0.94264	0.0:0.0:1.0:0.0	.	959	P35555	FBN1_HUMAN	L	959	ENSP00000325527:F959L	ENSP00000325527:F959L	F	-	3	2	FBN1	46569545	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	3.556000	0.53734	2.657000	0.90304	0.655000	0.94253	TTC		PASS	0.587	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			14	62	14	62	---	---	---	---
USP8	9101	broad.mit.edu	37	15	50733609	50733609	+	Silent	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr15:50733609G>A	ENST00000396444.3	+	3	506	c.168G>A	c.(166-168)gaG>gaA	p.E56E	USP8_ENST00000558892.1_3'UTR|USP8_ENST00000307179.4_Silent_p.E56E|USP8_ENST00000425032.3_Intron|USP8_ENST00000433963.1_Silent_p.E56E	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	56	MIT.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.E56E(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATCGTGATGAGGAAAGGGCCT	0.323																																						uc001zym.3																			1	Substitution - coding silent(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(166-168)GAG>GAA		ubiquitin specific peptidase 8							81.0	80.0	80.0					15																	50733609		2196	4294	6490	SO:0001819	synonymous_variant	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50733609G>A	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.168G>A	15.37:g.50733609G>A						USP8_uc001zyk.1_5'UTR|USP8_uc001zyl.3_Silent_p.E56E|USP8_uc001zyn.3_Silent_p.E56E|USP8_uc010ufh.1_Intron|USP8_uc010bev.1_5'UTR	p.E56E	NM_001128611	NP_001122083	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	4	668	+			56			MIT.		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	ENST00000396444.3	37	c.168G>A	CCDS10137.1																																																																																				PASS	0.323	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		26	84	26	84	---	---	---	---
WDR72	256764	broad.mit.edu	37	15	53815464	53815464	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr15:53815464G>C	ENST00000396328.1	-	19	3443	c.3204C>G	c.(3202-3204)gaC>gaG	p.D1068E	WDR72_ENST00000557913.1_Missense_Mutation_p.D1065E|WDR72_ENST00000360509.5_Missense_Mutation_p.D1068E|WDR72_ENST00000567224.1_5'UTR|WDR72_ENST00000559418.1_Missense_Mutation_p.D1078E	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1068								p.D1068E(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGTCCTCCACGTCTTGGAAGT	0.448																																						uc002acj.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(3202-3204)GAC>GAG		WD repeat domain 72							186.0	177.0	180.0					15																	53815464		2194	4293	6487	SO:0001583	missense	256764							g.chr15:53815464G>C	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.3204C>G	15.37:g.53815464G>C	ENSP00000379619:p.Asp1068Glu					WDR72_uc010bfh.1_RNA	p.D1068E	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	19	3246	-			1068					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.3204C>G	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	G	8.050	0.765850	0.15983	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.46451	0.87;0.87	6.17	-7.4	0.01397	.	0.391713	0.24260	N	0.040090	T	0.20495	0.0493	L	0.27053	0.805	0.09310	N	0.999999	B	0.13594	0.008	B	0.10450	0.005	T	0.15636	-1.0430	10	0.22109	T	0.4	.	9.6603	0.39952	0.6934:0.0:0.1745:0.1321	.	1068	Q3MJ13	WDR72_HUMAN	E	1068	ENSP00000379619:D1068E;ENSP00000353699:D1068E	ENSP00000353699:D1068E	D	-	3	2	WDR72	51602756	0.135000	0.22499	0.002000	0.10522	0.518000	0.34316	0.321000	0.19558	-0.982000	0.03515	-0.290000	0.09829	GAC		PASS	0.448	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		42	366	42	366	---	---	---	---
NOX5	79400	broad.mit.edu	37	15	69323869	69323869	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr15:69323869C>T	ENST00000388866.3	+	4	378	c.337C>T	c.(337-339)Cag>Tag	p.Q113*	NOX5_ENST00000530406.2_Intron|NOX5_ENST00000260364.5_Nonsense_Mutation_p.Q95*|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000448182.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	113	EF-hand 3; atypical; contains an insert of 28 residues. {ECO:0000255|PROSITE- ProRule:PRU00448}.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.Q95*(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GTGTGCACGGCAGGGGGCGTC	0.607																																						uc002ars.1																			1	Substitution - Nonsense(1)		lung(1)	breast(1)|pancreas(1)	2						c.(337-339)CAG>TAG		NADPH oxidase, EF-hand calcium binding domain 5							38.0	41.0	40.0					15																	69323869		2200	4298	6498	SO:0001587	stop_gained	79400				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69323869C>T	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.337C>T	15.37:g.69323869C>T	ENSP00000373518:p.Gln113*					NOX5_uc002arp.1_Nonsense_Mutation_p.Q95*|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002arr.1_Intron|NOX5_uc010bie.1_5'UTR|NOX5_uc010bif.1_5'Flank	p.Q113*	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN			4	357	+			113			Cytoplasmic (Potential).|EF-hand 3; atypical; contains an insert of 28 residues.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Nonsense_Mutation	SNP	ENST00000388866.3	37	c.337C>T	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	C	36	5.944093	0.97128	.	.	ENSG00000255346	ENST00000448182;ENST00000388866	.	.	.	1.9	1.9	0.25705	.	3.607400	0.00903	U	0.002363	.	.	.	.	.	.	0.45205	D	0.998213	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	9.3803	0.38309	0.0:1.0:0.0:0.0	.	.	.	.	X	95;113	.	ENSP00000373518:Q113X	Q	+	1	0	NOX5	67110923	0.002000	0.14202	0.206000	0.23566	0.741000	0.42261	-0.473000	0.06615	1.409000	0.46915	0.485000	0.47835	CAG		PASS	0.607	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		4	53	4	53	---	---	---	---
THAP10	56906	broad.mit.edu	37	15	71184338	71184339	+	Missense_Mutation	DNP	CC	CC	AA	rs371439870		TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr15:71184338_71184339CC>AA	ENST00000249861.4	-	1	785_786	c.273_274GG>TT	c.(271-276)cgGGtg>cgTTtg	p.V92L	LRRC49_ENST00000443425.2_5'Flank|LRRC49_ENST00000260382.5_5'Flank|LRRC49_ENST00000560369.1_5'Flank|LRRC49_ENST00000544974.2_Intron	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	92							DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V92L(2)|p.R91R(1)		NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GGGGCGGGCACCCGGTGCAGGG	0.673																																						uc002asv.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)|skin(1)	2						c.(274-276)GTG>TTG|c.(271-273)CGG>CGT		THAP domain containing 10																																				SO:0001583	missense	56906						DNA binding|metal ion binding	g.chr15:71184338C>A|g.chr15:71184339C>A	AL360202	CCDS10237.1	15q22.32	2013-01-25			ENSG00000129028	ENSG00000129028		"""THAP (C2CH-type zinc finger) domain containing"""	23193	protein-coding gene	gene with protein product		612538				12575992	Standard	NM_020147		Approved		uc002asv.3	Q9P2Z0	OTTHUMG00000133388	ENST00000249861.4:c.273_274delinsAA	15.37:g.71184338_71184339delinsAA	ENSP00000249861:p.Val92Leu					LRRC49_uc002asu.2_Intron|LRRC49_uc002asw.2_5'Flank|LRRC49_uc002asx.2_5'Flank|LRRC49_uc010ukf.1_5'Flank	p.V92L|p.R91R	NM_020147	NP_064532	Q9P2Z0	THA10_HUMAN			1	416|415	-			92|91					B2R8R0	Missense_Mutation|Silent	SNP	ENST00000249861.4	37	c.274G>T|c.273G>T	CCDS10237.1																																																																																				PASS	0.673	THAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257242.2	NM_020147		6	18	6	18	---	---	---	---
THSD4	79875	broad.mit.edu	37	15	72057526	72057526	+	Silent	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr15:72057526C>A	ENST00000355327.3	+	16	2891	c.2757C>A	c.(2755-2757)acC>acA	p.T919T	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Silent_p.T919T|THSD4_ENST00000357769.4_Silent_p.T559T			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	919	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)	p.T919T(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGTTTAGCACCGAATGGAGCA	0.552																																						uc002atb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2755-2757)ACC>ACA		thrombospondin, type I, domain containing 4							95.0	94.0	95.0					15																	72057526		1986	4156	6142	SO:0001819	synonymous_variant	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72057526C>A	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2757C>A	15.37:g.72057526C>A						THSD4_uc002ate.2_Silent_p.T559T|THSD4_uc002atg.1_Silent_p.T122T	p.T919T	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN			15	2836	+			919			TSP type-1 6.		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Silent	SNP	ENST00000355327.3	37	c.2757C>A	CCDS10238.2																																																																																				PASS	0.552	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		3	67	3	67	---	---	---	---
FBXO22	26263	broad.mit.edu	37	15	76225439	76225439	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr15:76225439A>G	ENST00000308275.3	+	7	1313	c.1208A>G	c.(1207-1209)aAa>aGa	p.K403R	FBXO22_ENST00000540507.1_Missense_Mutation_p.K299R	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	403					cellular protein modification process (GO:0006464)|cellular response to starvation (GO:0009267)|nucleocytoplasmic transport (GO:0006913)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein polyubiquitination (GO:0000209)|regulation of skeletal muscle fiber development (GO:0048742)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)	p.K403R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GGGTCATCTAAATAATAATTA	0.318																																						uc002bbk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1207-1209)AAA>AGA		F-box only protein 22 isoform a							54.0	57.0	56.0					15																	76225439		2197	4293	6490	SO:0001583	missense	26263				ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity	g.chr15:76225439A>G	AF174602	CCDS10287.1, CCDS45310.1	15q23	2008-10-03	2004-06-15		ENSG00000167196	ENSG00000167196		"""F-boxes /  ""other"""""	13593	protein-coding gene	gene with protein product	"""FIST domain containing 1"""	609096	"""F-box only protein 22"""			10531035, 10531037, 17855421	Standard	NM_147188		Approved	FBX22, FISTC1	uc002bbk.3	Q8NEZ5	OTTHUMG00000142841	ENST00000308275.3:c.1208A>G	15.37:g.76225439A>G	ENSP00000307833:p.Lys403Arg					FBXO22_uc002bbl.2_Missense_Mutation_p.K299R|FBXO22OS_uc002bbm.1_RNA	p.K403R	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN			7	1313	+			403					Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Missense_Mutation	SNP	ENST00000308275.3	37	c.1208A>G	CCDS10287.1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.445099	0.63178	.	.	ENSG00000167196	ENST00000308275;ENST00000540507	.	.	.	5.72	5.72	0.89469	.	0.165686	0.41938	N	0.000797	T	0.32941	0.0846	L	0.29908	0.895	0.25733	N	0.985242	P	0.35745	0.518	B	0.32149	0.141	T	0.38520	-0.9657	9	0.87932	D	0	.	15.1835	0.72978	1.0:0.0:0.0:0.0	.	403	Q8NEZ5	FBX22_HUMAN	R	403;299	.	ENSP00000307833:K403R	K	+	2	0	FBXO22	74012494	0.996000	0.38824	0.058000	0.19502	0.650000	0.38633	4.952000	0.63618	2.177000	0.69029	0.533000	0.62120	AAA		PASS	0.318	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286477.2	NM_147188		41	131	41	131	---	---	---	---
ZNF592	9640	broad.mit.edu	37	15	85326498	85326498	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr15:85326498G>C	ENST00000560079.2	+	4	880	c.592G>C	c.(592-594)Gat>Cat	p.D198H	ZNF592_ENST00000299927.3_Missense_Mutation_p.D198H	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	198					cell death (GO:0008219)|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.D198H(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCATATGTTTGATCATTTTTG	0.552																																						uc002bld.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(592-594)GAT>CAT		zinc finger protein 592							59.0	74.0	69.0					15																	85326498		2200	4297	6497	SO:0001583	missense	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85326498G>C	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.592G>C	15.37:g.85326498G>C	ENSP00000452877:p.Asp198His					ZNF592_uc010upb.1_RNA	p.D198H	NM_014630	NP_055445	Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		4	928	+			198					Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	c.592G>C	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241594	0.58995	.	.	ENSG00000166716	ENST00000299927	T	0.00724	5.78	5.87	5.87	0.94306	.	0.097108	0.64402	D	0.000001	T	0.02727	0.0082	L	0.36672	1.1	0.58432	D	0.99999	D	0.89917	1.0	D	0.91635	0.999	T	0.69807	-0.5045	10	0.40728	T	0.16	-16.6902	17.713	0.88327	0.0:0.0:1.0:0.0	.	198	Q92610	ZN592_HUMAN	H	198	ENSP00000299927:D198H	ENSP00000299927:D198H	D	+	1	0	ZNF592	83127502	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.026000	0.93700	2.780000	0.95670	0.655000	0.94253	GAT		PASS	0.552	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		22	174	22	174	---	---	---	---
ZNF592	9640	broad.mit.edu	37	15	85327594	85327594	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr15:85327594A>C	ENST00000560079.2	+	4	1976	c.1688A>C	c.(1687-1689)aAc>aCc	p.N563T	ZNF592_ENST00000299927.3_Missense_Mutation_p.N563T	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	563					cell death (GO:0008219)|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.N563T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CACAGCTCCAACCCCGTGCCC	0.592																																						uc002bld.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(1687-1689)AAC>ACC		zinc finger protein 592							99.0	101.0	100.0					15																	85327594		2203	4299	6502	SO:0001583	missense	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85327594A>C	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.1688A>C	15.37:g.85327594A>C	ENSP00000452877:p.Asn563Thr					ZNF592_uc010upb.1_RNA	p.N563T	NM_014630	NP_055445	Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		4	2024	+			563					Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	c.1688A>C	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	A	16.79	3.220862	0.58560	.	.	ENSG00000166716	ENST00000299927	T	0.01209	5.17	4.63	4.63	0.57726	.	0.088624	0.85682	D	0.000000	T	0.03783	0.0107	L	0.39245	1.2	0.53688	D	0.999975	D	0.71674	0.998	D	0.81914	0.995	T	0.55159	-0.8184	10	0.62326	D	0.03	-32.0765	12.0393	0.53444	1.0:0.0:0.0:0.0	.	563	Q92610	ZN592_HUMAN	T	563	ENSP00000299927:N563T	ENSP00000299927:N563T	N	+	2	0	ZNF592	83128598	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.004000	0.93583	1.931000	0.55961	0.533000	0.62120	AAC		PASS	0.592	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		41	121	41	121	---	---	---	---
DET1	55070	broad.mit.edu	37	15	89074851	89074851	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr15:89074851G>C	ENST00000268148.8	-	2	231	c.86C>G	c.(85-87)tCa>tGa	p.S29*	DET1_ENST00000558413.1_Nonsense_Mutation_p.S29*|DET1_ENST00000444300.1_Nonsense_Mutation_p.S40*|DET1_ENST00000559656.1_5'Flank|DET1_ENST00000564406.1_Nonsense_Mutation_p.S40*	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	29						nucleus (GO:0005634)		p.S40*(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TGCCTTGCCTGAACTGATCCG	0.468																																						uc002bmr.2																			1	Substitution - Nonsense(1)		lung(1)	lung(1)|pancreas(1)	2						c.(85-87)TCA>TGA		de-etiolated 1 isoform 2							135.0	136.0	136.0					15																	89074851		2004	4175	6179	SO:0001587	stop_gained	55070					nucleus		g.chr15:89074851G>C	BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.86C>G	15.37:g.89074851G>C	ENSP00000268148:p.Ser29*					DET1_uc002bmp.3_RNA|DET1_uc010bnk.2_RNA|DET1_uc002bmq.2_Nonsense_Mutation_p.S40*	p.S29*	NM_001144074	NP_001137546	Q7L5Y6	DET1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		2	238	-	Lung NSC(78;0.105)|all_lung(78;0.182)		29					B3KNN6|Q2VPC0|Q9NWD5	Nonsense_Mutation	SNP	ENST00000268148.8	37	c.86C>G	CCDS45344.1	.	.	.	.	.	.	.	.	.	.	G	36	5.784868	0.96937	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-19.5618	19.2867	0.94077	0.0:0.0:1.0:0.0	.	.	.	.	X	40;29	.	ENSP00000268148:S29X	S	-	2	0	DET1	86875855	1.000000	0.71417	0.979000	0.43373	0.999000	0.98932	8.788000	0.91834	2.793000	0.96121	0.655000	0.94253	TCA		PASS	0.468	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2	NM_017996		4	180	4	180	---	---	---	---
ACAN	176	broad.mit.edu	37	15	89382026	89382026	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr15:89382026C>A	ENST00000561243.1	+	2	203	c.203C>A	c.(202-204)cCa>cAa	p.P68Q	ACAN_ENST00000558207.1_Missense_Mutation_p.P68Q|ACAN_ENST00000352105.7_Missense_Mutation_p.P68Q|ACAN_ENST00000439576.2_Missense_Mutation_p.P68Q|ACAN_ENST00000559004.1_Missense_Mutation_p.P68Q			P16112	PGCA_HUMAN	aggrecan	68	G1-A.|Ig-like V-type.				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.P68Q(2)		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)			TCTACCGCCCCACTGGCCCCA	0.632																																						uc010upo.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(202-204)CCA>CAA		aggrecan isoform 2 precursor							82.0	95.0	91.0					15																	89382026		2032	4174	6206	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89382026C>A	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.203C>A	15.37:g.89382026C>A	ENSP00000453342:p.Pro68Gln					ACAN_uc002bmx.2_Missense_Mutation_p.P68Q|ACAN_uc010upp.1_Missense_Mutation_p.P68Q|ACAN_uc002bna.2_RNA	p.P68Q	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		3	577	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		68					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.203C>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.850666	0.51270	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.66995	-0.24;-0.24	5.36	5.36	0.76844	.	.	.	.	.	T	0.81550	0.4846	M	0.82323	2.585	0.39811	D	0.972704	D;D;P	0.89917	1.0;1.0;0.624	D;D;P	0.77557	0.99;0.99;0.542	D	0.84297	0.0503	9	0.72032	D	0.01	-15.0176	11.838	0.52338	0.0:0.9103:0.0:0.0897	.	68;68;68	E7ENV9;E7EX88;Q6PID9	.;.;.	Q	68	ENSP00000387356:P68Q;ENSP00000341615:P68Q	ENSP00000268134:P68Q	P	+	2	0	ACAN	87183030	0.999000	0.42202	0.988000	0.46212	0.507000	0.33981	5.225000	0.65294	2.689000	0.91719	0.591000	0.81541	CCA		PASS	0.632	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		10	69	10	69	---	---	---	---
ACAN	176	broad.mit.edu	37	15	89386799	89386799	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr15:89386799G>T	ENST00000561243.1	+	5	971	c.971G>T	c.(970-972)gGc>gTc	p.G324V	ACAN_ENST00000558207.1_Missense_Mutation_p.G324V|ACAN_ENST00000352105.7_Missense_Mutation_p.G324V|ACAN_ENST00000439576.2_Missense_Mutation_p.G324V|ACAN_ENST00000559004.1_Missense_Mutation_p.G324V			P16112	PGCA_HUMAN	aggrecan	324	G1-B'.|Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				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.G324V(2)		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)			AACCTCCTGGGCGTGAGGACC	0.687																																						uc010upo.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(970-972)GGC>GTC		aggrecan isoform 2 precursor							35.0	40.0	38.0					15																	89386799		2073	4193	6266	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89386799G>T	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.971G>T	15.37:g.89386799G>T	ENSP00000453342:p.Gly324Val					ACAN_uc002bmx.2_Missense_Mutation_p.G324V|ACAN_uc010upp.1_Missense_Mutation_p.G324V|ACAN_uc002bna.2_RNA	p.G324V	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		6	1345	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		324					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.971G>T	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123940	0.77436	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.16073	2.37;2.37	5.56	5.56	0.83823	.	0.000000	0.33180	N	0.005194	T	0.56156	0.1966	H	0.94964	3.605	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	0.68934	-0.5278	10	0.87932	D	0	-19.9971	18.5257	0.90971	0.0:0.0:1.0:0.0	.	324;324;324	E7ENV9;E7EX88;Q6PID9	.;.;.	V	324	ENSP00000387356:G324V;ENSP00000341615:G324V	ENSP00000268134:G324V	G	+	2	0	ACAN	87187803	1.000000	0.71417	0.969000	0.41365	0.893000	0.52053	9.684000	0.98659	2.626000	0.88956	0.650000	0.86243	GGC		PASS	0.687	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		13	47	13	47	---	---	---	---
PLIN1	5346	broad.mit.edu	37	15	90213330	90213330	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr15:90213330G>T	ENST00000300055.5	-	5	644	c.479C>A	c.(478-480)aCt>aAt	p.T160N	PLIN1_ENST00000430628.2_Missense_Mutation_p.T160N	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	160					lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)	lipid binding (GO:0008289)	p.T160N(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						AAATTCCGCAGTGTCTCTGGC	0.632																																						uc010upx.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(478-480)ACT>AAT		perilipin 1							35.0	36.0	36.0					15																	90213330		2200	4299	6499	SO:0001583	missense	5346				triglyceride catabolic process	lipid particle	lipid binding	g.chr15:90213330G>T	AB005293	CCDS10353.1	15q26	2009-08-12	2009-08-12	2009-08-12	ENSG00000166819	ENSG00000166819		"""Perilipins"""	9076	protein-coding gene	gene with protein product		170290	"""perilipin"""	PLIN		9521880, 19638644	Standard	NM_002666		Approved		uc010upx.1	O60240	OTTHUMG00000149813	ENST00000300055.5:c.479C>A	15.37:g.90213330G>T	ENSP00000300055:p.Thr160Asn					PLIN1_uc002boh.2_Missense_Mutation_p.T160N	p.T160N	NM_001145311	NP_001138783	O60240	PLIN1_HUMAN			5	589	-			160					Q8N5Y6	Missense_Mutation	SNP	ENST00000300055.5	37	c.479C>A	CCDS10353.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107963	0.77096	.	.	ENSG00000166819	ENST00000300055;ENST00000430628	T;T	0.06371	3.31;3.31	5.21	5.21	0.72293	.	0.314385	0.30969	N	0.008520	T	0.21227	0.0511	M	0.72118	2.19	0.36551	D	0.871889	D	0.60575	0.988	P	0.57846	0.828	T	0.04017	-1.0984	10	0.72032	D	0.01	-18.7319	17.3071	0.87198	0.0:0.0:1.0:0.0	.	160	O60240	PLIN1_HUMAN	N	160	ENSP00000300055:T160N;ENSP00000402167:T160N	ENSP00000300055:T160N	T	-	2	0	PLIN1	88014334	0.998000	0.40836	0.940000	0.37924	0.703000	0.40648	4.719000	0.61937	2.439000	0.82584	0.305000	0.20034	ACT		PASS	0.632	PLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313424.2	NM_002666		4	36	4	36	---	---	---	---
RHBDF1	64285	broad.mit.edu	37	16	111894	111894	+	Silent	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr16:111894C>A	ENST00000262316.6	-	8	1252	c.1110G>T	c.(1108-1110)ccG>ccT	p.P370P	RHBDF1_ENST00000454039.2_Silent_p.P370P	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	370					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)		p.P370P(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CCAGCCCATACGGCCGCTTCT	0.687																																						uc002cfl.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1108-1110)CCG>CCT		rhomboid family 1							24.0	25.0	25.0					16																	111894		2196	4291	6487	SO:0001819	synonymous_variant	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:111894C>A	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.1110G>T	16.37:g.111894C>A						RHBDF1_uc010uty.1_Silent_p.P393P|RHBDF1_uc010utz.1_Silent_p.P370P|RHBDF1_uc010bqo.1_RNA	p.P370P	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN			11	1258	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	370			Cytoplasmic (Potential).		Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Silent	SNP	ENST00000262316.6	37	c.1110G>T	CCDS32344.1																																																																																				PASS	0.687	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		8	12	8	12	---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18827849	18827849	+	Silent	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr16:18827849G>A	ENST00000446231.2	-	58	10489	c.10077C>T	c.(10075-10077)gaC>gaT	p.D3359D	SMG1_ENST00000389467.3_Silent_p.D3360D			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3359					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D3355D(1)|p.D3359D(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CAAGACCAGTGTCCTAAATAG	0.388																																						uc002dfm.2																			2	Substitution - coding silent(2)		lung(2)	breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(10075-10077)GAC>GAT		PI-3-kinase-related kinase SMG-1							72.0	68.0	69.0					16																	18827849		1924	4136	6060	SO:0001819	synonymous_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18827849G>A	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.10077C>T	16.37:g.18827849G>A						SMG1_uc010bwb.2_Silent_p.D3219D|SMG1_uc010bwa.2_Silent_p.D2090D	p.D3359D	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			58	10440	-			3359					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	c.10077C>T	CCDS45430.1																																																																																				PASS	0.388	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		6	54	6	54	---	---	---	---
GP2	2813	broad.mit.edu	37	16	20331589	20331589	+	Silent	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr16:20331589G>A	ENST00000381362.4	-	6	938	c.862C>T	c.(862-864)Ctg>Ttg	p.L288L	GP2_ENST00000302555.5_Silent_p.L285L|GP2_ENST00000573897.1_5'UTR|GP2_ENST00000341642.5_Silent_p.L138L|GP2_ENST00000381360.5_Silent_p.L141L	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	288	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)	p.L285L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CTTACCTCCAGAATGTTCCTG	0.537																																						uc002dgv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(862-864)CTG>TTG		zymogen granule membrane glycoprotein 2 isoform							98.0	86.0	90.0					16																	20331589		2203	4300	6503	SO:0001819	synonymous_variant	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20331589G>A	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.862C>T	16.37:g.20331589G>A						GP2_uc002dgw.2_Silent_p.L285L|GP2_uc002dgx.2_Silent_p.L141L|GP2_uc002dgy.2_Silent_p.L138L	p.L288L	NM_001007240	NP_001007241	P55259	GP2_HUMAN			6	945	-			288			ZP.		A6NFM9|A6NJA8|Q13338|Q9UIF1	Silent	SNP	ENST00000381362.4	37	c.862C>T	CCDS42128.1																																																																																				PASS	0.537	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		17	142	17	142	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21065834	21065834	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr16:21065834C>G	ENST00000261383.3	-	28	3945	c.3946G>C	c.(3946-3948)Gat>Cat	p.D1316H	DNAH3_ENST00000415178.1_Missense_Mutation_p.D1316H	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1316	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.D1316H(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCAATCTGATCATTGCTCTTT	0.532																																						uc010vbe.1																			2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(3946-3948)GAT>CAT		dynein, axonemal, heavy chain 3							74.0	61.0	65.0					16																	21065834		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21065834C>G	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3946G>C	16.37:g.21065834C>G	ENSP00000261383:p.Asp1316His						p.D1316H	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	28	3946	-			1316			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.3946G>C	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714243	0.30413	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.61627	0.09;0.09	5.78	1.48	0.22813	.	0.968178	0.08547	N	0.929689	T	0.45597	0.1350	L	0.41632	1.29	0.09310	N	1	P	0.36027	0.533	B	0.36885	0.235	T	0.36648	-0.9739	10	0.37606	T	0.19	.	5.2501	0.15517	0.0:0.2995:0.378:0.3224	.	1316	Q8TD57	DYH3_HUMAN	H	1316	ENSP00000261383:D1316H;ENSP00000394245:D1316H	ENSP00000261383:D1316H	D	-	1	0	DNAH3	20973335	0.000000	0.05858	0.882000	0.34594	0.996000	0.88848	-0.143000	0.10296	0.909000	0.36697	0.591000	0.81541	GAT		PASS	0.532	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		24	73	24	73	---	---	---	---
PRKCB	5579	broad.mit.edu	37	16	24202448	24202448	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr16:24202448G>C	ENST00000321728.7	+	16	1935	c.1760G>C	c.(1759-1761)gGa>gCa	p.G587A	PRKCB_ENST00000303531.7_Missense_Mutation_p.G587A	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	587	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.G587A(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	CTGGGTTGTGGACCTGAAGGC	0.433																																						uc002dmd.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9						c.(1759-1761)GGA>GCA		protein kinase C, beta isoform 1	Vitamin E(DB00163)						101.0	98.0	99.0					16																	24202448		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24202448G>C	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1760G>C	16.37:g.24202448G>C	ENSP00000318315:p.Gly587Ala					PRKCB_uc002dme.2_Missense_Mutation_p.G587A	p.G587A	NM_212535	NP_997700	P05771	KPCB_HUMAN			16	1957	+			587			Protein kinase.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.1760G>C	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198463	0.79015	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.52754	0.65;0.65	5.79	4.82	0.62117	Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.056756	0.64402	D	0.000001	T	0.40645	0.1125	L	0.35414	1.06	0.80722	D	1	B;B	0.32160	0.083;0.358	B;B	0.35039	0.075;0.194	T	0.29822	-0.9999	10	0.44086	T	0.13	.	14.7976	0.69889	0.0:0.0:0.8546:0.1454	.	587;587	P05771-2;P05771	.;KPCB_HUMAN	A	587	ENSP00000318315:G587A;ENSP00000305355:G587A	ENSP00000305355:G587A	G	+	2	0	PRKCB	24109949	1.000000	0.71417	0.962000	0.40283	0.832000	0.47134	6.137000	0.71710	1.415000	0.47037	0.650000	0.86243	GGA		PASS	0.433	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		38	136	38	136	---	---	---	---
IL21R	50615	broad.mit.edu	37	16	27460372	27460372	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr16:27460372G>C	ENST00000337929.3	+	9	1858	c.1385G>C	c.(1384-1386)gGa>gCa	p.G462A	IL21R_ENST00000564089.1_Missense_Mutation_p.G462A|IL21R_ENST00000395755.1_Missense_Mutation_p.G462A|IL21R_ENST00000395754.4_Missense_Mutation_p.G462A|IL21R-AS1_ENST00000563191.1_RNA	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	462					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)	p.G462A(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TGGGCTGGGGGACTGCCCTGG	0.662			T	BCL6	NHL																																	uc002doq.1				Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|breast(1)	4						c.(1384-1386)GGA>GCA		interleukin 21 receptor precursor							29.0	33.0	32.0					16																	27460372		2197	4300	6497	SO:0001583	missense	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27460372G>C	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.1385G>C	16.37:g.27460372G>C	ENSP00000338010:p.Gly462Ala					IL21R_uc002dor.1_Missense_Mutation_p.G462A|IL21R_uc002dos.1_Missense_Mutation_p.G462A|uc002dot.2_RNA	p.G462A	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN			9	1618	+			462			Cytoplasmic (Potential).		A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	c.1385G>C	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.913356	0.33815	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.34859	1.34;1.34;1.34	4.9	-0.942	0.10398	.	1.758580	0.02696	N	0.111188	T	0.30916	0.0780	L	0.57536	1.79	0.09310	N	1	P	0.36837	0.571	B	0.33960	0.173	T	0.16719	-1.0393	10	0.29301	T	0.29	-13.1806	3.7208	0.08456	0.3811:0.0:0.4535:0.1654	.	462	Q9HBE5	IL21R_HUMAN	A	462	ENSP00000338010:G462A;ENSP00000379104:G462A;ENSP00000379103:G462A	ENSP00000338010:G462A	G	+	2	0	IL21R	27367873	0.000000	0.05858	0.004000	0.12327	0.391000	0.30476	-0.025000	0.12413	0.121000	0.18284	0.561000	0.74099	GGA		PASS	0.662	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		21	61	21	61	---	---	---	---
OGFOD1	55239	broad.mit.edu	37	16	56487240	56487240	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr16:56487240G>C	ENST00000566157.1	+	2	343	c.220G>C	c.(220-222)Gac>Cac	p.D74H	OGFOD1_ENST00000568397.1_Missense_Mutation_p.D74H|NUDT21_ENST00000300291.5_5'Flank	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	74					cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)	p.D74H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	CCAAAGCCAAGACTTCTTAGA	0.393																																						uc002ejb.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(220-222)GAC>CAC		2-oxoglutarate and iron-dependent oxygenase	Vitamin C(DB00126)						102.0	101.0	102.0					16																	56487240		2198	4300	6498	SO:0001583	missense	55239						iron ion binding|L-ascorbic acid 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|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:56487240G>C	BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"""TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"""	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.220G>C	16.37:g.56487240G>C	ENSP00000457258:p.Asp74His					OGFOD1_uc002ejc.2_5'UTR|NUDT21_uc002eja.2_5'Flank	p.D74H	NM_018233	NP_060703	Q8N543	OGFD1_HUMAN			2	321	+			74					H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Missense_Mutation	SNP	ENST00000566157.1	37	c.220G>C	CCDS10761.2	.	.	.	.	.	.	.	.	.	.	G	10.31	1.313618	0.23908	.	.	ENSG00000087263	ENST00000336111	.	.	.	4.93	2.58	0.30949	Prolyl 4-hydroxylase, alpha subunit (1);	0.508381	0.22660	N	0.057218	T	0.35307	0.0927	L	0.48642	1.525	0.25515	N	0.987426	B	0.29301	0.241	B	0.34418	0.182	T	0.30563	-0.9974	9	0.54805	T	0.06	-5.0	7.1846	0.25793	0.3863:0.0:0.6137:0.0	.	74	Q8N543	OGFD1_HUMAN	H	74	.	ENSP00000337196:D74H	D	+	1	0	OGFOD1	55044741	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.369000	0.34227	0.907000	0.36646	0.591000	0.81541	GAC		PASS	0.393	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256976.3	NM_018233		28	148	28	148	---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81161382	81161382	+	RNA	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr16:81161382G>T	ENST00000534142.1	-	0	721				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GTGCTTTGGCGATCAGTCCCC	0.512																																						uc002fgh.1																			0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(6334-6336)CGC>AGC		polycystin 1-like 2 isoform a							55.0	53.0	54.0					16																	81161382		1998	4169	6167			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81161382G>T	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81161382G>T						PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_RNA	p.R2112S	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			38	6334	-			2112			Extracellular (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000534142.1	37	c.6334C>A																																																																																					PASS	0.512	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1			16	29	16	29	---	---	---	---
USP6	9098	broad.mit.edu	37	17	5039998	5039998	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr17:5039998C>G	ENST00000574788.1	+	18	2958	c.728C>G	c.(727-729)cCc>cGc	p.P243R	USP6_ENST00000250066.6_Missense_Mutation_p.P243R|USP6_ENST00000332776.4_Missense_Mutation_p.P243R|USP6_ENST00000304328.5_5'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	243	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)	p.P243R(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CATGTGGTACCCAAGTCACAA	0.582			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	uc002gau.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	COL1A1|CDH11|ZNF9|OMD		aneurysmal bone cysts		2	Substitution - Missense(2)		lung(2)	skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						c.(727-729)CCC>CGC		ubiquitin specific protease 6							176.0	171.0	172.0					17																	5039998		2203	4297	6500	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5039998C>G	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.728C>G	17.37:g.5039998C>G	ENSP00000460380:p.Pro243Arg					USP6_uc002gav.1_Missense_Mutation_p.P243R|USP6_uc010ckz.1_5'UTR|uc002gbb.2_5'Flank|uc002gbd.2_RNA	p.P243R	NM_004505	NP_004496	P35125	UBP6_HUMAN			18	2958	+			243			Rab-GAP TBC.		Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.728C>G	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	C	11.62	1.693277	0.30052	.	.	ENSG00000129204	ENST00000332776;ENST00000250066	T;T	0.09723	2.95;2.95	0.862	-1.72	0.08107	Rab-GAP/TBC domain (5);	0.070336	0.64402	D	0.000019	T	0.03263	0.0095	N	0.12611	0.24	0.32792	N	0.500982	P	0.41569	0.755	B	0.28784	0.094	T	0.41016	-0.9532	10	0.72032	D	0.01	.	3.6544	0.08215	0.0:0.5061:0.4939:0.0	.	243	P35125	UBP6_HUMAN	R	243	ENSP00000328010:P243R;ENSP00000250066:P243R	ENSP00000250066:P243R	P	+	2	0	USP6	4980722	0.001000	0.12720	0.330000	0.25442	0.334000	0.28698	-0.514000	0.06298	0.132000	0.18615	0.134000	0.15878	CCC		PASS	0.582	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		67	146	67	146	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577079	7577079	+	Nonsense_Mutation	SNP	C	C	A	rs587782006		TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr17:7577079C>A	ENST00000269305.4	-	8	1048	c.859G>T	c.(859-861)Gag>Tag	p.E287*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E287*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E287*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E287*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E287*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	287	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (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.N288fs*13(17)|p.E287*(13)|p.0?(8)|p.E287K(6)|p.?(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.E287fs*17(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)	CGGAGATTCTCTTCCTCTGTG	0.567		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)	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		60	Deletion - Frameshift(25)|Substitution - Nonsense(13)|Whole gene deletion(8)|Deletion - In frame(6)|Substitution - Missense(6)|Unknown(2)	p.N288fs*13(17)|p.E287*(8)|p.0?(7)|p.E287K(6)|p.E287E(5)|p.E287G(2)|p.E287D(2)|p.?(2)|p.R283fs*16(2)|p.E286fs*17(2)|p.E285_N288delEEEN(1)|p.E287V(1)|p.E287fs*17(1)|p.E287A(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.E285_L289delEEENL(1)	upper_aerodigestive_tract(20)|breast(6)|lung(6)|large_intestine(4)|bone(4)|liver(4)|stomach(3)|urinary_tract(3)|oesophagus(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|skin(2)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM044948	TP53	M		c.(859-861)GAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							97.0	83.0	88.0					17																	7577079		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|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.chr17:7577079C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.859G>T	17.37:g.7577079C>A	ENSP00000269305:p.Glu287*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.E287*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E155*|TP53_uc010cng.1_Nonsense_Mutation_p.E155*|TP53_uc002gii.1_Nonsense_Mutation_p.E155*|TP53_uc010cnh.1_Nonsense_Mutation_p.E287*|TP53_uc010cni.1_Nonsense_Mutation_p.E287*|TP53_uc002gij.2_Nonsense_Mutation_p.E287*	p.E287*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1053	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	287		E -> V (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.859G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403327	0.83230	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.12	4.15	0.48705	.	0.602197	0.18632	N	0.135543	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-7.7207	11.4307	0.50038	0.0:0.9127:0.0:0.0873	.	.	.	.	X	287;287;287;287;287;276;155	.	ENSP00000269305:E287X	E	-	1	0	TP53	7517804	1.000000	0.71417	0.955000	0.39395	0.167000	0.22549	4.360000	0.59455	1.381000	0.46364	-0.258000	0.10820	GAG		PASS	0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		32	54	32	54	---	---	---	---
SLC25A35	399512	broad.mit.edu	37	17	8194247	8194247	+	Missense_Mutation	SNP	C	C	T	rs138474953		TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr17:8194247C>T	ENST00000577745.1	-	4	1152	c.642G>A	c.(640-642)atG>atA	p.M214I	SLC25A35_ENST00000581320.1_5'Flank|SLC25A35_ENST00000396278.1_Missense_Mutation_p.M214I|SLC25A35_ENST00000579192.1_Missense_Mutation_p.M214I|SLC25A35_ENST00000380067.2_Missense_Mutation_p.M214I|SLC25A35_ENST00000580340.1_Missense_Mutation_p.M214I			Q3KQZ1	S2535_HUMAN	solute carrier family 25, member 35	214					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.M214I(1)		breast(2)|large_intestine(2)|lung(2)	6						CAATGCCACTCATCATGGCAG	0.547																																						uc002gla.3																			1	Substitution - Missense(1)		lung(1)		0						c.(640-642)ATG>ATA		solute carrier family 25, member 35		C	ILE/MET	0,4406		0,0,2203	89.0	78.0	82.0		642	5.0	1.0	17	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC25A35	NM_201520.1	10	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	214/296	8194247	1,13005	2203	4300	6503	SO:0001583	missense	399512				transport	integral to membrane|mitochondrial inner membrane		g.chr17:8194247C>T	AY498866	CCDS11138.1	17p13.1	2013-05-22			ENSG00000125434	ENSG00000125434		"""Solute carriers"""	31921	protein-coding gene	gene with protein product		610818					Standard	NM_201520		Approved	FLJ40217	uc002gku.1	Q3KQZ1		ENST00000577745.1:c.642G>A	17.37:g.8194247C>T	ENSP00000464231:p.Met214Ile					SLC25A35_uc002gku.1_Missense_Mutation_p.M214I|SLC25A35_uc002gkt.2_Missense_Mutation_p.M214I|SLC25A35_uc002gkz.1_RNA	p.M214I	NM_201520	NP_958928	Q3KQZ1	S2535_HUMAN			4	687	-			214			Solcar 3.|Helical; Name=5; (Potential).		Q494X5|Q6RGS3|Q8N7Y5	Missense_Mutation	SNP	ENST00000577745.1	37	c.642G>A		.	.	.	.	.	.	.	.	.	.	C	7.544	0.661295	0.14645	0.0	1.16E-4	ENSG00000125434	ENST00000380067;ENST00000396278	T;T	0.76060	-0.97;-0.99	5.04	5.04	0.67666	Mitochondrial carrier domain (2);	0.359846	0.29178	N	0.012901	T	0.40247	0.1109	N	0.01048	-1.04	0.24039	N	0.996083	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.20075	-1.0286	10	0.02654	T	1	-2.9481	11.5681	0.50818	0.0:0.82:0.18:0.0	.	214;214	Q3KQZ1;Q3KQZ1-4	S2535_HUMAN;.	I	214	ENSP00000369407:M214I;ENSP00000379574:M214I	ENSP00000369407:M214I	M	-	3	0	SLC25A35	8134972	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	1.539000	0.36104	2.621000	0.88768	0.407000	0.27541	ATG		PASS	0.547	SLC25A35-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442146.1	NM_201520		14	68	14	68	---	---	---	---
GLP2R	9340	broad.mit.edu	37	17	9729400	9729400	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr17:9729400G>T	ENST00000262441.5	+	1	533	c.20G>T	c.(19-21)aGg>aTg	p.R7M	GLP2R_ENST00000574745.1_Intron	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	7					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)	p.R7M(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	GGATCGAGCAGGGCAGGGCCT	0.637																																						uc002gmd.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(19-21)AGG>ATG		glucagon-like peptide 2 receptor precursor	Glucagon recombinant(DB00040)						43.0	37.0	39.0					17																	9729400		2203	4300	6503	SO:0001583	missense	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9729400G>T	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.20G>T	17.37:g.9729400G>T	ENSP00000262441:p.Arg7Met					GLP2R_uc010cog.1_RNA	p.R7M	NM_004246	NP_004237	O95838	GLP2R_HUMAN			1	20	+			7			Extracellular (Potential).		Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	c.20G>T	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	G	9.468	1.094773	0.20471	.	.	ENSG00000065325	ENST00000396206;ENST00000262441	T	0.57595	0.39	3.52	0.596	0.17496	.	.	.	.	.	T	0.32346	0.0826	N	0.24115	0.695	0.09310	N	1	B	0.33379	0.41	B	0.28784	0.094	T	0.19778	-1.0295	9	0.72032	D	0.01	.	5.0707	0.14606	0.1267:0.4073:0.4661:0.0	.	7	O95838	GLP2R_HUMAN	M	7	ENSP00000262441:R7M	ENSP00000262441:R7M	R	+	2	0	GLP2R	9670125	0.003000	0.15002	0.001000	0.08648	0.004000	0.04260	0.407000	0.21049	0.177000	0.19895	0.655000	0.94253	AGG		PASS	0.637	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			8	26	8	26	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10298533	10298533	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr17:10298533C>A	ENST00000403437.2	-	34	4973	c.4879G>T	c.(4879-4881)Gaa>Taa	p.E1627*	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1627					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.E1627*(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATTTCCATTTCATTCAGATCT	0.458									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			1	Substitution - Nonsense(1)		lung(1)	skin(6)|ovary(3)|breast(2)	11						c.(4879-4881)GAA>TAA		myosin, heavy chain 8, skeletal muscle,							300.0	266.0	278.0					17																	10298533		2203	4300	6503	SO:0001587	stop_gained	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10298533C>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4879G>T	17.37:g.10298533C>A	ENSP00000384330:p.Glu1627*					uc002gml.1_Intron	p.E1627*	NM_002472	NP_002463	P13535	MYH8_HUMAN			34	4974	-			1627			Potential.		Q14910	Nonsense_Mutation	SNP	ENST00000403437.2	37	c.4879G>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	45	11.308747	0.99545	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	.	.	.	4.85	4.85	0.62838	.	0.000000	0.42172	U	0.000752	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.168	0.89734	0.0:1.0:0.0:0.0	.	.	.	.	X	1627	.	ENSP00000252173:E1627X	E	-	1	0	MYH8	10239258	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.600000	0.82769	2.521000	0.84997	0.650000	0.86243	GAA		PASS	0.458	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		70	209	70	209	---	---	---	---
TAOK1	57551	broad.mit.edu	37	17	27794161	27794161	+	Splice_Site	SNP	A	A	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr17:27794161A>T	ENST00000261716.3	+	3	651		c.e3-1		TAOK1_ENST00000536202.1_Splice_Site	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1						cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TTTCTTCTTTAGGCACGAGAT	0.353																																						uc002hdz.1																			2	Unknown(2)		lung(2)	upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.e3-2		TAO kinase 1							91.0	90.0	90.0					17																	27794161		2203	4300	6503	SO:0001630	splice_region_variant	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27794161A>T	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.133-1A>T	17.37:g.27794161A>T						TAOK1_uc010wbe.1_Splice_Site_p.A45_splice|TAOK1_uc010wbf.1_Splice_Site_p.A45_splice	p.A45_splice	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		3	327	+								A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Splice_Site	SNP	ENST00000261716.3	37	c.133_splice	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.118656	0.77323	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3073	0.74001	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TAOK1	24818287	1.000000	0.71417	0.981000	0.43875	0.744000	0.42396	9.272000	0.95707	2.071000	0.62044	0.482000	0.46254	.		PASS	0.353	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791	Intron	26	71	26	71	---	---	---	---
NSRP1	84081	broad.mit.edu	37	17	28506279	28506279	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr17:28506279G>A	ENST00000247026.5	+	5	535	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	158	Necessary for alternative splicing activity.				developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.E158K(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						GAGAGCTGAAGAAGAAGAAAG	0.418																																						uc002heu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(472-474)GAA>AAA		coiled-coil domain containing 55 isoform 1							27.0	30.0	29.0					17																	28506279		2190	4293	6483	SO:0001583	missense	84081				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding	g.chr17:28506279G>A	AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"""coiled-coil domain containing 55"""	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.472G>A	17.37:g.28506279G>A	ENSP00000247026:p.Glu158Lys					CCDC55_uc002hev.2_Missense_Mutation_p.E104K|CCDC55_uc010wbl.1_Missense_Mutation_p.E104K|CCDC55_uc010wbm.1_Missense_Mutation_p.E104K|CCDC55_uc002hex.2_Missense_Mutation_p.E104K	p.E158K	NM_032141	NP_115517	Q9H0G5	NSRP1_HUMAN			5	500	+			158			Necessary for alternative splicing activity.|Potential.		Q6FI71	Missense_Mutation	SNP	ENST00000247026.5	37	c.472G>A	CCDS11255.1	.	.	.	.	.	.	.	.	.	.	G	34	5.398828	0.96030	.	.	ENSG00000126653	ENST00000247026;ENST00000540900;ENST00000394826	T	0.43294	0.95	5.29	5.29	0.74685	Domain of unknown function DUF2040 (1);	0.000000	0.85682	D	0.000000	T	0.65831	0.2729	M	0.83692	2.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63506	-0.6622	10	0.12766	T	0.61	-13.8897	17.9478	0.89044	0.0:0.0:1.0:0.0	.	158	Q9H0G5	NSRP1_HUMAN	K	158;89;104	ENSP00000247026:E158K	ENSP00000247026:E158K	E	+	1	0	NSRP1	25530405	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	8.724000	0.91462	2.468000	0.83385	0.591000	0.81541	GAA		PASS	0.418	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256121.2	NM_032141		5	37	5	37	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29527558	29527558	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr17:29527558G>A	ENST00000358273.4	+	9	1390	c.1007G>A	c.(1006-1008)tGg>tAg	p.W336*	NF1_ENST00000431387.4_Nonsense_Mutation_p.W336*|NF1_ENST00000356175.3_Nonsense_Mutation_p.W336*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	336					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)|p.W336*(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TACATCAATTGGGAAGATAAC	0.393			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		17	Whole gene deletion(8)|Unknown(6)|Substitution - Nonsense(3)	p.?(2)|p.W336*(1)	soft_tissue(8)|lung(3)|autonomic_ganglia(3)|central_nervous_system(3)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	GRCh37	CM003946|CS001840	NF1	M|S		c.(1006-1008)TGG>TAG		neurofibromin isoform 1							122.0	107.0	112.0					17																	29527558		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29527558G>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1007G>A	17.37:g.29527558G>A	ENSP00000351015:p.Trp336*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hge.1_Nonsense_Mutation_p.W336*|NF1_uc002hgf.1_Nonsense_Mutation_p.W336*|NF1_uc002hgh.2_Nonsense_Mutation_p.W336*|NF1_uc010csn.1_Nonsense_Mutation_p.W196*	p.W336*	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	9	1340	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	336					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.1007G>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	36	5.916517	0.97099	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	19.1503	0.93485	0.0:0.0:1.0:0.0	.	.	.	.	X	336;336;336;2	.	ENSP00000348498:W336X	W	+	2	0	NF1	26551684	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.082000	0.94059	2.542000	0.85734	0.591000	0.81541	TGG		PASS	0.393	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		62	112	62	112	---	---	---	---
PEX12	5193	broad.mit.edu	37	17	33904106	33904106	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr17:33904106G>C	ENST00000225873.4	-	2	1238	c.631C>G	c.(631-633)Ctg>Gtg	p.L211V	RP11-1094M14.11_ENST00000592381.1_lincRNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	211					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)	p.L211V(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTGTGCTCCAGAGCTTGTATA	0.468																																						uc002hjp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(631-633)CTG>GTG		peroxisomal biogenesis factor 12							119.0	109.0	112.0					17																	33904106		2203	4300	6503	SO:0001583	missense	5193				protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	g.chr17:33904106G>C	U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.631C>G	17.37:g.33904106G>C	ENSP00000225873:p.Leu211Val						p.L211V	NM_000286	NP_000277	O00623	PEX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	1247	-			211			Peroxisomal matrix (Potential).		B2R6M2	Missense_Mutation	SNP	ENST00000225873.4	37	c.631C>G	CCDS11296.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.448104	0.26074	.	.	ENSG00000108733	ENST00000424525;ENST00000225873	D	0.81996	-1.56	4.86	0.417	0.16421	Pex, N-terminal (1);	0.298631	0.35970	N	0.002877	T	0.71307	0.3324	L	0.54323	1.7	0.39431	D	0.967085	B	0.16802	0.019	B	0.17098	0.017	T	0.54337	-0.8309	10	0.12766	T	0.61	-2.1967	4.1154	0.10079	0.2456:0.0:0.4301:0.3243	.	211	O00623	PEX12_HUMAN	V	211	ENSP00000225873:L211V	ENSP00000225873:L211V	L	-	1	2	PEX12	30928219	0.743000	0.28239	0.891000	0.34965	0.972000	0.66771	0.174000	0.16743	0.204000	0.20548	0.650000	0.86243	CTG		PASS	0.468	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286		22	188	22	188	---	---	---	---
SLC4A1	6521	broad.mit.edu	37	17	42328923	42328923	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr17:42328923C>A	ENST00000262418.6	-	18	2500	c.2345G>T	c.(2344-2346)cGc>cTc	p.R782L	AC003102.1_ENST00000399246.2_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	782	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.R782L(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CAGGGGGATGCGGGACAGGAT	0.632																																						uc002igf.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2344-2346)CGC>CTC		solute carrier family 4, anion exchanger, member							85.0	79.0	81.0					17																	42328923		2203	4300	6503	SO:0001583	missense	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42328923C>A		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.2345G>T	17.37:g.42328923C>A	ENSP00000262418:p.Arg782Leu						p.R782L	NM_000342	NP_000333	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	18	2494	-		Breast(137;0.014)|Prostate(33;0.0181)	782			Membrane (anion exchange).		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	c.2345G>T	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315504	0.23908	.	.	ENSG00000004939	ENST00000262418	T	0.77620	-1.11	5.22	-2.84	0.05751	Bicarbonate transporter, C-terminal (1);	0.670270	0.15683	N	0.249824	T	0.48714	0.1515	N	0.11131	0.1	0.27835	N	0.941326	B	0.06786	0.001	B	0.12156	0.007	T	0.41016	-0.9532	10	0.09084	T	0.74	.	5.6756	0.17747	0.5722:0.1746:0.0:0.2531	.	782	P02730	B3AT_HUMAN	L	782	ENSP00000262418:R782L	ENSP00000262418:R782L	R	-	2	0	SLC4A1	39684449	0.604000	0.26932	0.986000	0.45419	0.985000	0.73830	0.244000	0.18124	-0.243000	0.09653	0.561000	0.74099	CGC		PASS	0.632	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		31	47	31	47	---	---	---	---
TTLL6	284076	broad.mit.edu	37	17	46868812	46868812	+	Silent	SNP	G	G	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr17:46868812G>C	ENST00000393382.3	-	9	1293	c.1152C>G	c.(1150-1152)ctC>ctG	p.L384L	TTLL6_ENST00000433608.2_Silent_p.L77L	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6									p.L62L(1)|p.L336L(1)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						AGGCGCTGTTGAGTGTGTGGT	0.527											OREG0024526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010wlo.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1150-1152)CTC>CTG		tubulin tyrosine ligase-like family, member 6							232.0	179.0	197.0					17																	46868812		2203	4300	6503	SO:0001819	synonymous_variant	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46868812G>C	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1152C>G	17.37:g.46868812G>C			OREG0024526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	942	TTLL6_uc002iob.2_Silent_p.L77L|TTLL6_uc010dbi.2_RNA|TTLL6_uc002ioc.2_Silent_p.L137L|TTLL6_uc002iod.2_Silent_p.L231L	p.L384L	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN			10	1187	-			336			TTL.			Silent	SNP	ENST00000393382.3	37	c.1152C>G	CCDS45724.1																																																																																				PASS	0.527	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		53	56	53	56	---	---	---	---
KIF2B	84643	broad.mit.edu	37	17	51901585	51901585	+	Silent	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr17:51901585G>T	ENST00000268919.4	+	1	1347	c.1191G>T	c.(1189-1191)gtG>gtT	p.V397V		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	397	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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.V397V(1)		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						TGTGTTGTGTGGAGGAAGTGC	0.502																																						uc002iua.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)	8						c.(1189-1191)GTG>GTT		kinesin family member 2B							132.0	99.0	110.0					17																	51901585		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.chr17:51901585G>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.1191G>T	17.37:g.51901585G>T						uc010wna.1_RNA	p.V397V	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	1347	+			397			Kinesin-motor.		Q96MA2|Q9BXG6	Silent	SNP	ENST00000268919.4	37	c.1191G>T	CCDS32685.1																																																																																				PASS	0.502	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		33	63	33	63	---	---	---	---
SEC14L1	6397	broad.mit.edu	37	17	75210048	75210048	+	Silent	SNP	G	G	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr17:75210048G>C	ENST00000413679.2	+	17	2394	c.2091G>C	c.(2089-2091)ctG>ctC	p.L697L	SEC14L1_ENST00000591437.1_Silent_p.L663L|SEC14L1_ENST00000392476.2_Silent_p.L697L|SEC14L1_ENST00000436233.4_Silent_p.L697L|SEC14L1_ENST00000431431.2_Silent_p.L663L|SEC14L1_ENST00000585618.1_Silent_p.L697L|SEC14L1_ENST00000430767.4_Silent_p.L697L|SEC14L1_ENST00000443798.4_Silent_p.L697L	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	697					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.L697L(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TCTCCCAGCTGAGTGCCGCCA	0.667																																						uc002jto.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2089-2091)CTG>CTC		SEC14 (S. cerevisiae)-like 1 isoform a							66.0	60.0	62.0					17																	75210048		2203	4300	6503	SO:0001819	synonymous_variant	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75210048G>C	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.2091G>C	17.37:g.75210048G>C						SEC14L1_uc010dhc.2_Silent_p.L697L|SEC14L1_uc010wth.1_Silent_p.L697L|SEC14L1_uc002jtm.2_Silent_p.L697L|SEC14L1_uc010wti.1_Silent_p.L663L|SEC14L1_uc010wtj.1_3'UTR|SEC14L1_uc002jtr.2_3'UTR	p.L697L	NM_003003	NP_002994	Q92503	S14L1_HUMAN			17	2358	+			697					A8K4E8|B4DDI5|D5G3K1|Q99780	Silent	SNP	ENST00000413679.2	37	c.2091G>C	CCDS11752.1																																																																																				PASS	0.667	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		16	23	16	23	---	---	---	---
ZNF750	79755	broad.mit.edu	37	17	80789004	80789004	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr17:80789004C>A	ENST00000269394.3	-	2	2160	c.1327G>T	c.(1327-1329)Gga>Tga	p.G443*	TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Nonsense_Mutation_p.G44*	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	443					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.G443*(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TAGAGTCTTCCCAGTGCGCTG	0.617																																						uc002kga.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(1327-1329)GGA>TGA		zinc finger protein 750							76.0	73.0	74.0					17																	80789004		2203	4300	6503	SO:0001587	stop_gained	79755					intracellular	zinc ion binding	g.chr17:80789004C>A	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.1327G>T	17.37:g.80789004C>A	ENSP00000269394:p.Gly443*					TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	p.G443*	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	1638	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	443					Q9H899	Nonsense_Mutation	SNP	ENST00000269394.3	37	c.1327G>T	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648752	0.87958	.	.	ENSG00000141579	ENST00000269394;ENST00000543850	.	.	.	4.4	4.4	0.53042	.	0.096695	0.43919	D	0.000514	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.8629	14.4783	0.67562	0.0:1.0:0.0:0.0	.	.	.	.	X	443;44	.	.	G	-	1	0	ZNF750	78382293	0.001000	0.12720	0.018000	0.16275	0.031000	0.12232	0.846000	0.27682	2.167000	0.68274	0.563000	0.77884	GGA		PASS	0.617	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		97	118	97	118	---	---	---	---
TXNDC2	84203	broad.mit.edu	37	18	9886703	9886703	+	Missense_Mutation	SNP	G	G	A	rs183239518		TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr18:9886703G>A	ENST00000306084.6	+	2	426	c.227G>A	c.(226-228)cGc>cAc	p.R76H	TXNDC2_ENST00000357775.5_Missense_Mutation_p.R9H|TXNDC2_ENST00000536353.2_Missense_Mutation_p.R9H|TXNDC2_ENST00000426718.3_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	76					cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)	p.R9H(1)|p.R76H(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						TTCCACATGCGCACAGAGGAG	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		16649	0.001		0.0	False		,,,				2504	0.0					uc002koi.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(226-228)CGC>CAC		thioredoxin domain-containing 2 isoform 2							129.0	92.0	105.0					18																	9886703		2203	4300	6503	SO:0001583	missense	84203				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9886703G>A	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.227G>A	18.37:g.9886703G>A	ENSP00000304908:p.Arg76His					TXNDC2_uc010wzq.1_RNA|TXNDC2_uc002koh.3_Missense_Mutation_p.R9H	p.R76H	NM_001098529	NP_001091999	Q86VQ3	TXND2_HUMAN			2	676	+			76					A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.227G>A	CCDS42414.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.58	1.980112	0.34942	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T;T	0.18810	2.19;3.61;3.6	3.38	-1.97	0.07503	.	3.503140	0.00993	N	0.003547	T	0.14056	0.0340	L	0.29908	0.895	0.09310	N	1	D	0.57571	0.98	B	0.42593	0.392	T	0.11743	-1.0575	9	.	.	.	0.2531	0.6155	0.00769	0.2894:0.2247:0.2904:0.1955	.	76	Q86VQ3	TXND2_HUMAN	H	9;9;76;76	ENSP00000437393:R9H;ENSP00000350419:R9H;ENSP00000304908:R76H	.	R	+	2	0	TXNDC2	9876703	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.514000	0.06298	-0.460000	0.07003	-0.232000	0.12228	CGC		PASS	0.572	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			5	105	5	105	---	---	---	---
ESCO1	114799	broad.mit.edu	37	18	19154062	19154062	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr18:19154062C>A	ENST00000269214.5	-	4	1680	c.743G>T	c.(742-744)aGa>aTa	p.R248I		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	248					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)	p.R248I(1)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						CATTTTTGATCTTTTCACCTC	0.423																																						uc002kth.1																			1	Substitution - Missense(1)		lung(1)		0						c.(742-744)AGA>ATA		establishment of cohesion 1 homolog 1							233.0	230.0	231.0					18																	19154062		2203	4300	6503	SO:0001583	missense	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19154062C>A	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.743G>T	18.37:g.19154062C>A	ENSP00000269214:p.Arg248Ile					ESCO1_uc002kti.1_RNA	p.R248I	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN			4	1677	-			248					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	37	c.743G>T	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.685852	0.29962	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.60171	0.21;1.76	5.39	1.24	0.21308	.	0.457271	0.22199	N	0.063271	T	0.39860	0.1094	L	0.44542	1.39	0.46356	D	0.999001	P	0.37864	0.61	B	0.29440	0.102	T	0.21827	-1.0234	10	0.62326	D	0.03	-22.7033	5.9096	0.19020	0.0:0.3692:0.0:0.6308	.	248	Q5FWF5	ESCO1_HUMAN	I	248	ENSP00000269214:R248I;ENSP00000372763:R248I	ENSP00000269214:R248I	R	-	2	0	ESCO1	17408060	0.956000	0.32656	0.998000	0.56505	0.757000	0.42996	0.190000	0.17057	0.343000	0.23821	0.655000	0.94253	AGA		PASS	0.423	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		147	339	147	339	---	---	---	---
MBD2	8932	broad.mit.edu	37	18	51750520	51750520	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr18:51750520C>G	ENST00000256429.3	-	1	638	c.410G>C	c.(409-411)gGg>gCg	p.G137A	MBD2_ENST00000398398.2_Missense_Mutation_p.G137A|MBD2_ENST00000583046.1_Missense_Mutation_p.G137A|SNORA37_ENST00000384504.1_RNA	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	137	Gly-rich.|Necessary for interaction with DHX9.				ATP-dependent chromatin remodeling (GO:0043044)|cellular protein complex assembly (GO:0043623)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|protein domain specific binding (GO:0019904)|satellite DNA binding (GO:0003696)|siRNA binding (GO:0035197)	p.G137A(1)		breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)		TCCCCTGGGCCCCGGCCCCGC	0.766																																						uc002lfg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(409-411)GGG>GCG		methyl-CpG binding domain protein 2 isoform 1	Hexobarbital(DB01355)						8.0	9.0	9.0					18																	51750520		2168	4253	6421	SO:0001583	missense	8932				transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding	g.chr18:51750520C>G	AF072242	CCDS11953.1, CCDS45871.1	18q21	2008-08-01			ENSG00000134046	ENSG00000134046			6917	protein-coding gene	gene with protein product		603547				9774669, 10441743	Standard	NM_003927		Approved		uc002lfg.2	Q9UBB5	OTTHUMG00000132705	ENST00000256429.3:c.410G>C	18.37:g.51750520C>G	ENSP00000256429:p.Gly137Ala					MBD2_uc002lfh.1_Missense_Mutation_p.G137A|SNORA37_uc002lfi.1_5'Flank	p.G137A	NM_003927	NP_003918	Q9UBB5	MBD2_HUMAN		Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	1	639	-			137			Gly-rich.		O95242|Q9UIS8	Missense_Mutation	SNP	ENST00000256429.3	37	c.410G>C	CCDS11953.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.161927	0.38217	.	.	ENSG00000134046	ENST00000256429;ENST00000398398	D;D	0.96200	-3.94;-3.94	3.48	3.48	0.39840	Methyl-CpG DNA binding (1);DNA-binding, integrase-type (1);	0.570337	0.13259	U	0.401399	D	0.89781	0.6814	N	0.08118	0	0.30922	N	0.727951	D;P	0.54964	0.969;0.462	P;B	0.46975	0.533;0.124	D	0.87413	0.2377	10	0.59425	D	0.04	-1.6694	8.3449	0.32266	0.0:0.8831:0.0:0.1169	.	137;137	Q9UBB5-3;Q9UBB5	.;MBD2_HUMAN	A	137	ENSP00000256429:G137A;ENSP00000381435:G137A	ENSP00000256429:G137A	G	-	2	0	MBD2	50004518	0.987000	0.35691	1.000000	0.80357	0.987000	0.75469	0.227000	0.17795	1.680000	0.50976	0.485000	0.47835	GGG		PASS	0.766	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256003.2	NM_003927		5	16	5	16	---	---	---	---
ST8SIA3	51046	broad.mit.edu	37	18	55024483	55024483	+	Silent	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr18:55024483C>T	ENST00000324000.3	+	3	2676	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	214					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.I214I(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		ACCCCAGCATCCTGGAAAAAT	0.408																																						uc002lgn.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)|skin(1)	2						c.(640-642)ATC>ATT		ST8 alpha-N-acetyl-neuraminide							59.0	61.0	60.0					18																	55024483		2203	4300	6503	SO:0001819	synonymous_variant	51046				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr18:55024483C>T	AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.642C>T	18.37:g.55024483C>T							p.I214I	NM_015879	NP_056963	O43173	SIA8C_HUMAN		READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)	3	999	+			214			Lumenal (Potential).		A8K0F2|Q6B085|Q9NS41	Silent	SNP	ENST00000324000.3	37	c.642C>T	CCDS32834.1																																																																																				PASS	0.408	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879		20	118	20	118	---	---	---	---
INSR	3643	broad.mit.edu	37	19	7141735	7141735	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr19:7141735C>A	ENST00000302850.5	-	13	2777	c.2635G>T	c.(2635-2637)Ggt>Tgt	p.G879C	INSR_ENST00000341500.5_Missense_Mutation_p.G867C	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	879	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.G879C(2)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	ACGATCAGACCATTGGGCTCC	0.527																																						uc002mgd.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12						c.(2635-2637)GGT>TGT		insulin receptor isoform Long precursor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						174.0	128.0	143.0					19																	7141735		2203	4300	6503	SO:0001583	missense	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7141735C>A	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.2635G>T	19.37:g.7141735C>A	ENSP00000303830:p.Gly879Cys					INSR_uc002mge.1_Missense_Mutation_p.G867C	p.G879C	NM_000208	NP_000199	P06213	INSR_HUMAN			13	2744	-			879			Fibronectin type-III 3.|Extracellular (Potential).		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.2635G>T	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689839	0.88735	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.82893	-1.66;-1.66	5.62	5.62	0.85841	Fibronectin, type III (4);	0.000000	0.45867	U	0.000330	D	0.94371	0.8190	H	0.96805	3.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95892	0.8908	10	0.87932	D	0	.	17.2257	0.86970	0.0:1.0:0.0:0.0	.	867;879	P06213-2;P06213	.;INSR_HUMAN	C	879;867	ENSP00000303830:G879C;ENSP00000342838:G867C	ENSP00000303830:G879C	G	-	1	0	INSR	7092735	1.000000	0.71417	0.998000	0.56505	0.789000	0.44602	7.150000	0.77403	2.646000	0.89796	0.644000	0.83932	GGT		PASS	0.527	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			21	34	21	34	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9084880	9084880	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr19:9084880G>T	ENST00000397910.4	-	1	7138	c.6935C>A	c.(6934-6936)aCa>aAa	p.T2312K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2312	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T2312K(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						CTCTCCCAGTGTAATGGAGGG	0.488																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(6934-6936)ACA>AAA		mucin 16							68.0	70.0	70.0					19																	9084880		1973	4141	6114	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9084880G>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.6935C>A	19.37:g.9084880G>T	ENSP00000381008:p.Thr2312Lys						p.T2312K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	7139	-			2312			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.6935C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.135	0.023338	0.08006	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	0.225	0.225	0.15325	.	.	.	.	.	T	0.03959	0.0111	N	0.08118	0	.	.	.	D	0.54772	0.968	P	0.61874	0.895	T	0.45556	-0.9253	7	0.87932	D	0	.	.	.	.	.	2312	B5ME49	.	K	2312	ENSP00000381008:T2312K	ENSP00000381008:T2312K	T	-	2	0	MUC16	8945880	0.007000	0.16637	0.268000	0.24571	0.273000	0.26683	0.028000	0.13644	0.300000	0.22699	0.305000	0.20034	ACA		PASS	0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		11	33	11	33	---	---	---	---
COL5A3	50509	broad.mit.edu	37	19	10071348	10071348	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr19:10071348G>T	ENST00000264828.3	-	66	5155	c.5070C>A	c.(5068-5070)agC>agA	p.S1690R		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1690	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.S1690R(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCTGGGGGACGCTGACAGTGG	0.632																																						uc002mmq.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10						c.(5068-5070)AGC>AGA		collagen, type V, alpha 3 preproprotein							64.0	65.0	64.0					19																	10071348		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10071348G>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.5070C>A	19.37:g.10071348G>T	ENSP00000264828:p.Ser1690Arg						p.S1690R	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		66	5156	-			1690			Fibrillar collagen NC1.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.5070C>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	0.613	-0.824411	0.02755	.	.	ENSG00000080573	ENST00000264828	T	0.73047	-0.71	4.02	-8.05	0.01106	Fibrillar collagen, C-terminal (4);	1.077470	0.07310	U	0.875591	T	0.53367	0.1792	L	0.42245	1.32	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.33954	-0.9848	10	0.40728	T	0.16	.	4.3082	0.10958	0.4056:0.3853:0.1272:0.0819	.	1690	P25940	CO5A3_HUMAN	R	1690	ENSP00000264828:S1690R	ENSP00000264828:S1690R	S	-	3	2	COL5A3	9932348	0.000000	0.05858	0.005000	0.12908	0.060000	0.15804	-6.898000	0.00050	-2.798000	0.00353	-0.693000	0.03709	AGC		PASS	0.632	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		31	68	31	68	---	---	---	---
PGLYRP2	114770	broad.mit.edu	37	19	15580462	15580462	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr19:15580462G>T	ENST00000340880.4	-	4	2102	c.1622C>A	c.(1621-1623)aCc>aAc	p.T541N	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.T541N	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	541					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.T541N(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GTGCGGCCAGGTGCGCAGCAG	0.731																																						uc002nbf.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1621-1623)ACC>AAC		peptidoglycan recognition protein 2 precursor							9.0	8.0	8.0					19																	15580462		2148	4203	6351	SO:0001583	missense	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15580462G>T	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.1622C>A	19.37:g.15580462G>T	ENSP00000345968:p.Thr541Asn					PGLYRP2_uc002nbg.3_Missense_Mutation_p.T541N	p.T541N	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN			4	1755	-			541					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	c.1622C>A	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940011	0.52972	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.17528	2.27;2.27	5.34	4.29	0.51040	N-acetylmuramoyl-L-alanine amidase domain (2);	0.492433	0.20405	N	0.092962	T	0.21468	0.0517	L	0.58101	1.795	0.38209	D	0.940409	B;B	0.27679	0.176;0.185	B;B	0.31751	0.135;0.064	T	0.07481	-1.0770	10	0.66056	D	0.02	-19.6577	12.4246	0.55540	0.0:0.3249:0.6751:0.0	.	541;541	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	N	541	ENSP00000345968:T541N;ENSP00000292609:T541N	ENSP00000292609:T541N	T	-	2	0	PGLYRP2	15441462	0.962000	0.33011	1.000000	0.80357	0.676000	0.39594	1.425000	0.34859	1.221000	0.43506	0.563000	0.77884	ACC		PASS	0.731	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		4	3	4	3	---	---	---	---
CHERP	10523	broad.mit.edu	37	19	16640580	16640580	+	Silent	SNP	T	T	C	rs528619775	byFrequency	TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr19:16640580T>C	ENST00000198939.6	-	8	1077	c.1041A>G	c.(1039-1041)caA>caG	p.Q347Q	CHERP_ENST00000546361.2_Silent_p.Q336Q|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein									p.Q336Q(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						gctgctgctgttgctgctgct	0.667													T|||	23	0.00459265	0.0129	0.0043	5008	,	,		16097	0.001		0.001	False		,,,				2504	0.001					uc002nei.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(1006-1008)CAA>CAG		calcium homeostasis endoplasmic reticulum							21.0	29.0	26.0					19																	16640580		2193	4293	6486	SO:0001819	synonymous_variant	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16640580T>C	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1041A>G	19.37:g.16640580T>C						MED26_uc002nee.2_Intron	p.Q336Q	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN			8	1082	-			336			Gln-rich.			Silent	SNP	ENST00000198939.6	37	c.1008A>G																																																																																					PASS	0.667	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		2	5	2	5	---	---	---	---
UPF1	5976	broad.mit.edu	37	19	18971733	18971733	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr19:18971733G>A	ENST00000599848.1	+	17	2641	c.2432G>A	c.(2431-2433)cGc>cAc	p.R811H	UPF1_ENST00000262803.5_Missense_Mutation_p.R800H			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	811					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R800H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GAGGGCCAGCGCTCCTACCTG	0.632																																						uc002nkg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2431-2433)CGC>CAC		regulator of nonsense transcripts 1							64.0	41.0	49.0					19																	18971733		2192	4296	6488	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding	g.chr19:18971733G>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.2432G>A	19.37:g.18971733G>A	ENSP00000470142:p.Arg811His					UPF1_uc002nkf.2_Missense_Mutation_p.R800H|UPF1_uc002nkh.2_Missense_Mutation_p.R55H	p.R811H	NM_002911	NP_002902	Q92900	RENT1_HUMAN			17	2707	+			811					O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.2432G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.210891	0.95069	.	.	ENSG00000005007	ENST00000262803	D	0.92495	-3.05	4.73	4.73	0.59995	.	0.059966	0.64402	D	0.000003	D	0.97056	0.9038	H	0.94734	3.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	D	0.98154	1.0443	10	0.87932	D	0	-33.8554	14.8621	0.70389	0.0:0.0:1.0:0.0	.	811;800	Q92900;Q92900-2	RENT1_HUMAN;.	H	800	ENSP00000262803:R800H	ENSP00000262803:R800H	R	+	2	0	UPF1	18832733	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.425000	0.97467	2.166000	0.68216	0.561000	0.74099	CGC		PASS	0.632	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		5	10	5	10	---	---	---	---
ZNF493	284443	broad.mit.edu	37	19	21606630	21606630	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr19:21606630C>T	ENST00000355504.4	+	2	1051	c.785C>T	c.(784-786)tCa>tTa	p.S262L	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.S390L	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	262					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.S390L(1)|p.S262L(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AGTATTTTCTCAACCCTTACT	0.373																																						uc002npx.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(784-786)TCA>TTA		zinc finger protein 493 isoform 1							38.0	42.0	41.0					19																	21606630		2198	4294	6492	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606630C>T	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.785C>T	19.37:g.21606630C>T	ENSP00000347691:p.Ser262Leu					ZNF493_uc002npw.2_Missense_Mutation_p.S390L|ZNF493_uc002npy.2_Missense_Mutation_p.S262L	p.S262L	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN			2	1065	+			262			C2H2-type 9.		G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.785C>T	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	7.710	0.694854	0.15039	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.17854	2.25;2.25	1.03	-0.142	0.13448	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35068	0.0919	M	0.73430	2.235	0.09310	N	1	D;D	0.89917	1.0;0.981	D;D	0.72982	0.979;0.943	T	0.08953	-1.0697	9	0.66056	D	0.02	.	6.3971	0.21618	0.0:0.783:0.0:0.217	.	262;390	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	L	390;262	ENSP00000376110:S390L;ENSP00000347691:S262L	ENSP00000347691:S262L	S	+	2	0	ZNF493	21398470	0.000000	0.05858	0.006000	0.13384	0.006000	0.05464	-1.953000	0.01526	0.447000	0.26695	0.454000	0.30748	TCA		PASS	0.373	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		19	99	19	99	---	---	---	---
WDR88	126248	broad.mit.edu	37	19	33628618	33628618	+	Silent	SNP	T	T	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr19:33628618T>A	ENST00000355868.3	+	2	388	c.312T>A	c.(310-312)gcT>gcA	p.A104A	WDR88_ENST00000361680.2_Silent_p.A104A|WDR88_ENST00000592765.1_Silent_p.A104A	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	104								p.A104A(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					ACGAGCACGCTGTGAGCACCT	0.488																																						uc002nui.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(310-312)GCT>GCA		PQQ repeat and WD repeat domain containing							97.0	86.0	90.0					19																	33628618		2203	4300	6503	SO:0001819	synonymous_variant	126248							g.chr19:33628618T>A	BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"""WD repeat domain containing"""	26999	protein-coding gene	gene with protein product			"""PQQ repeat and WD repeat domain containing"""	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.312T>A	19.37:g.33628618T>A							p.A104A	NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN			2	390	+	Esophageal squamous(110;0.137)		104			WD 1.		Q8NEF8	Silent	SNP	ENST00000355868.3	37	c.312T>A	CCDS12429.1																																																																																				PASS	0.488	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479		33	71	33	71	---	---	---	---
ZNF585A	199704	broad.mit.edu	37	19	37644202	37644202	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr19:37644202G>T	ENST00000356958.4	-	5	857	c.599C>A	c.(598-600)tCc>tAc	p.S200Y	ZNF585A_ENST00000355533.2_Missense_Mutation_p.S145Y|ZNF585A_ENST00000292841.5_Missense_Mutation_p.S145Y|ZNF585A_ENST00000392157.2_Missense_Mutation_p.S145Y|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	200					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S145Y(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTGAAGAGGGACGACACTTG	0.393																																						uc002ofo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(598-600)TCC>TAC		zinc finger protein 585A							108.0	102.0	104.0					19																	37644202		2203	4300	6503	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37644202G>T	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.599C>A	19.37:g.37644202G>T	ENSP00000349440:p.Ser200Tyr					ZNF585A_uc002ofm.1_Missense_Mutation_p.S145Y|ZNF585A_uc002ofn.1_Missense_Mutation_p.S145Y	p.S200Y	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	830	-			200			C2H2-type 2.		Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.599C>A		.	.	.	.	.	.	.	.	.	.	G	4.691	0.128496	0.08981	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	3.1	1.93	0.25924	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.443521	0.16852	N	0.196890	T	0.24005	0.0581	N	0.21142	0.635	0.09310	N	1	B	0.24576	0.106	B	0.41135	0.348	T	0.45041	-0.9288	10	0.02654	T	1	.	5.1979	0.15249	0.0:0.188:0.4549:0.3571	.	200	Q6P3V2	Z585A_HUMAN	Y	200;145;145;145	ENSP00000349440:S200Y;ENSP00000292841:S145Y;ENSP00000375998:S145Y;ENSP00000347724:S145Y	ENSP00000292841:S145Y	S	-	2	0	ZNF585A	42336042	0.000000	0.05858	0.570000	0.28473	0.008000	0.06430	-2.791000	0.00767	1.731000	0.51592	0.561000	0.74099	TCC		PASS	0.393	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		30	272	30	272	---	---	---	---
SIPA1L3	23094	broad.mit.edu	37	19	38689102	38689102	+	Silent	SNP	G	G	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr19:38689102G>A	ENST00000222345.6	+	19	5423	c.4914G>A	c.(4912-4914)ctG>ctA	p.L1638L	RN7SL663P_ENST00000578592.1_RNA|CTB-102L5.8_ENST00000598146.1_RNA	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1638					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)	p.L1638L(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACCCTGGGCTGATGCCCCTGC	0.687																																						uc002ohk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(4912-4914)CTG>CTA		signal-induced proliferation-associated 1 like							67.0	75.0	72.0					19																	38689102		2201	4295	6496	SO:0001819	synonymous_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38689102G>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.4914G>A	19.37:g.38689102G>A							p.L1638L	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		19	5423	+			1638					Q2TV87	Silent	SNP	ENST00000222345.6	37	c.4914G>A	CCDS33007.1																																																																																				PASS	0.687	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		32	204	32	204	---	---	---	---
PRKD2	25865	broad.mit.edu	37	19	47181865	47181865	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr19:47181865C>T	ENST00000291281.4	-	16	2351	c.2126G>A	c.(2125-2127)cGc>cAc	p.R709H	PRKD2_ENST00000433867.1_Missense_Mutation_p.R709H|PRKD2_ENST00000595515.1_Missense_Mutation_p.R709H|DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000601806.1_Missense_Mutation_p.R552H|PRKD2_ENST00000593492.1_5'UTR|PRKD2_ENST00000600194.1_Missense_Mutation_p.R552H			Q9BZL6	KPCD2_HUMAN	protein kinase D2	709	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.R709H(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CACCACTGAGCGGCGGAACGA	0.627																																						uc002pfh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7						c.(2125-2127)CGC>CAC		protein kinase D2 isoform A							98.0	80.0	86.0					19																	47181865		2203	4300	6503	SO:0001583	missense	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47181865C>T	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.2126G>A	19.37:g.47181865C>T	ENSP00000291281:p.Arg709His					PRKD2_uc002pfd.2_Missense_Mutation_p.R83H|PRKD2_uc010eks.2_Missense_Mutation_p.R112H|PRKD2_uc010ekt.2_5'UTR|PRKD2_uc002pfe.2_Missense_Mutation_p.R229H|PRKD2_uc002pff.2_Missense_Mutation_p.R229H|PRKD2_uc002pfg.2_Missense_Mutation_p.R552H|PRKD2_uc002pfi.2_Missense_Mutation_p.R709H|PRKD2_uc002pfj.2_Missense_Mutation_p.R709H|PRKD2_uc010xye.1_Missense_Mutation_p.R709H|PRKD2_uc002pfk.2_Missense_Mutation_p.R552H	p.R709H	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	17	2468	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	709			Protein kinase.		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	c.2126G>A	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	C	35	5.578926	0.96565	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.65364	-0.15;-0.15	4.53	4.53	0.55603	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	0.000016	T	0.66742	0.2820	N	0.16903	0.455	0.80722	D	1	D;D;D	0.89917	0.974;1.0;1.0	P;D;D	0.85130	0.608;0.996;0.997	T	0.73442	-0.3981	10	0.87932	D	0	-35.1315	16.4381	0.83884	0.0:1.0:0.0:0.0	.	709;194;709	E7ER94;A0JLT6;Q9BZL6	.;.;KPCD2_HUMAN	H	709	ENSP00000291281:R709H;ENSP00000393978:R709H	ENSP00000291281:R709H	R	-	2	0	PRKD2	51873705	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.705000	0.84606	2.250000	0.74265	0.563000	0.77884	CGC		PASS	0.627	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		14	52	14	52	---	---	---	---
SIGLEC11	114132	broad.mit.edu	37	19	50462151	50462151	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr19:50462151T>C	ENST00000447370.2	-	7	1202	c.1112A>G	c.(1111-1113)gAa>gGa	p.E371G	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.E371G|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	371	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.E359G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CCCGAGGTTTTCCAGGACTAG	0.657																																						uc010ybh.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(1111-1113)GAA>GGA		sialic acid binding Ig-like lectin 11 isoform 1							39.0	42.0	41.0					19																	50462151		2203	4300	6503	SO:0001583	missense	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50462151T>C	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1112A>G	19.37:g.50462151T>C	ENSP00000412361:p.Glu371Gly					SIGLEC11_uc010ybi.1_Missense_Mutation_p.E371G	p.E371G	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	7	1203	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	371			Ig-like C2-type 3.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000447370.2	37	c.1112A>G	CCDS12790.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.77|13.77	2.335919|2.335919	0.41398|0.41398	.|.	.|.	ENSG00000161640|ENSG00000161640	ENST00000447370;ENST00000458019|ENST00000426971	T|.	0.57595|.	0.39|.	2.99|2.99	0.82|0.82	0.18793|0.18793	Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.732142|.	0.12808|.	N|.	0.437425|.	T|T	0.45935|0.45935	0.1367|0.1367	M|M	0.76002|0.76002	2.32|2.32	0.09310|0.09310	N|N	1|1	D;D|.	0.89917|.	1.0;0.996|.	D;P|.	0.97110|.	1.0;0.889|.	T|T	0.40156|0.40156	-0.9578|-0.9578	10|5	0.59425|.	D|.	0.04|.	.|.	4.3363|4.3363	0.11089|0.11089	0.0:0.3262:0.0:0.6738|0.0:0.3262:0.0:0.6738	.|.	371;371|.	Q96RL6-2;Q96RL6|.	.;SIG11_HUMAN|.	G|E	371|361	ENSP00000412361:E371G|.	ENSP00000412361:E371G|.	E|K	-|-	2|1	0|0	SIGLEC11|SIGLEC11	55153963|55153963	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.032000|0.032000	0.12392|0.12392	-0.121000|-0.121000	0.10643|0.10643	0.330000|0.330000	0.23485|0.23485	0.454000|0.454000	0.30748|0.30748	GAA|AAA		PASS	0.657	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		8	84	8	84	---	---	---	---
SIGLEC8	27181	broad.mit.edu	37	19	51955814	51955814	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr19:51955814C>A	ENST00000321424.3	-	7	1385	c.1319G>T	c.(1318-1320)gGg>gTg	p.G440V	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.G347V|SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.G331V	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	440					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.G440V(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCCTTCCTCCCCTGACGAGGG	0.577																																						uc002pwt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(1318-1320)GGG>GTG		sialic acid binding Ig-like lectin 8 precursor							50.0	51.0	51.0					19																	51955814		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51955814C>A	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.1319G>T	19.37:g.51955814C>A	ENSP00000321077:p.Gly440Val					SIGLEC8_uc010yda.1_Missense_Mutation_p.G331V|SIGLEC8_uc002pwu.2_Intron|SIGLEC8_uc010eox.2_Missense_Mutation_p.G347V	p.G440V	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	7	1386	-		all_neural(266;0.0199)	440			Cytoplasmic (Potential).		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.1319G>T	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	3.395	-0.123510	0.06795	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.05717	3.4;3.4;3.4	2.55	-0.153	0.13403	.	.	.	.	.	T	0.04452	0.0122	L	0.48877	1.53	0.09310	N	1	B;B;P	0.35628	0.315;0.113;0.513	B;B;B	0.26310	0.043;0.031;0.068	T	0.38067	-0.9678	9	0.34782	T	0.22	.	2.6235	0.04923	0.0:0.4596:0.3194:0.221	.	331;347;440	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	V	331;440;347	ENSP00000389142:G331V;ENSP00000321077:G440V;ENSP00000339448:G347V	ENSP00000321077:G440V	G	-	2	0	SIGLEC8	56647626	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-1.104000	0.03326	0.205000	0.20568	0.502000	0.49764	GGG		PASS	0.577	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		34	108	34	108	---	---	---	---
VSTM1	284415	broad.mit.edu	37	19	54567014	54567014	+	Silent	SNP	G	G	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr19:54567014G>C	ENST00000338372.2	-	1	193	c.18C>G	c.(16-18)ctC>ctG	p.L6L	VSTM1_ENST00000366170.2_5'UTR|VSTM1_ENST00000425006.2_Silent_p.L6L|VSTM1_ENST00000376626.1_Silent_p.L6L	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	6					immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.L6L(1)		breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		AAAGCAGGGAGAGGAATTCTG	0.607																																						uc002qcw.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(16-18)CTC>CTG		V-set and transmembrane domain containing 1							174.0	172.0	172.0					19																	54567014		2203	4300	6503	SO:0001819	synonymous_variant	284415					integral to membrane		g.chr19:54567014G>C	AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.18C>G	19.37:g.54567014G>C						VSTM1_uc010erb.2_RNA|VSTM1_uc002qcx.3_Silent_p.L6L	p.L6L	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN		GBM - Glioblastoma multiforme(134;0.165)	1	194	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		6					B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Silent	SNP	ENST00000338372.2	37	c.18C>G	CCDS12872.1																																																																																				PASS	0.607	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3	NM_198481		23	252	23	252	---	---	---	---
LILRB4	11006	broad.mit.edu	37	19	55176586	55176586	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr19:55176586C>A	ENST00000391736.1	+	8	1027	c.712C>A	c.(712-714)Cct>Act	p.P238T	LILRB4_ENST00000430952.2_Missense_Mutation_p.P238T|LILRB4_ENST00000391733.3_Missense_Mutation_p.P238T|LILRB4_ENST00000391734.3_Missense_Mutation_p.P238T|LILRB4_ENST00000270452.2_Missense_Mutation_p.P238T	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	238					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.P238T(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CCCAGCAGGCCCTGAGGACCA	0.657																																						uc002qgp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(712-714)CCT>ACT		leukocyte immunoglobulin-like receptor,							47.0	41.0	43.0					19																	55176586		2203	4300	6503	SO:0001583	missense	11006					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55176586C>A	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.712C>A	19.37:g.55176586C>A	ENSP00000375616:p.Pro238Thr					LILRB4_uc002qgq.2_Missense_Mutation_p.P238T|LILRB4_uc010ers.1_3'UTR|LILRB4_uc002qgr.2_Missense_Mutation_p.P279T|LILRB4_uc010ert.2_Missense_Mutation_p.P279T|LILRB4_uc010eru.2_Missense_Mutation_p.P267T	p.P238T	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	6	1074	+			238			Extracellular (Potential).		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	c.712C>A	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	C	9.576	1.122258	0.20877	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	T;T;T;T;T;T	0.00497	7.01;7.01;7.01;6.98;7.02;7.01	1.87	0.621	0.17643	.	.	.	.	.	T	0.00524	0.0017	M	0.70595	2.14	0.09310	N	1	B;B;B;B;P	0.38745	0.342;0.067;0.01;0.216;0.645	B;B;B;B;B	0.37451	0.04;0.018;0.054;0.171;0.25	T	0.44205	-0.9343	9	0.62326	D	0.03	.	3.2539	0.06824	0.0:0.4237:0.0:0.5763	.	238;237;238;238;238	A8MUE1;C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;.;LIRB4_HUMAN	T	238;238;238;238;238;237	ENSP00000375616:P238T;ENSP00000270452:P238T;ENSP00000408995:P238T;ENSP00000375614:P238T;ENSP00000375613:P238T;ENSP00000401962:P237T	ENSP00000270452:P238T	P	+	1	0	LILRB4	59868398	0.000000	0.05858	0.113000	0.21522	0.539000	0.34962	-1.060000	0.03475	0.137000	0.18759	0.407000	0.27541	CCT		PASS	0.657	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			6	19	6	19	---	---	---	---
PTPRH	5794	broad.mit.edu	37	19	55693178	55693178	+	Missense_Mutation	SNP	C	C	T	rs200030466		TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr19:55693178C>T	ENST00000376350.3	-	20	3314	c.3292G>A	c.(3292-3294)Gaa>Aaa	p.E1098K	SYT5_ENST00000590851.1_5'Flank|SYT5_ENST00000537500.1_5'Flank|SYT5_ENST00000354308.3_5'Flank|PTPRH_ENST00000263434.5_Missense_Mutation_p.E920K	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1098					apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E1098K(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		ATGAGGTTTTCGACATCCTCA	0.592													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19842	0.0		0.0	False		,,,				2504	0.0					uc002qjq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(3292-3294)GAA>AAA		protein tyrosine phosphatase, receptor type, H							140.0	130.0	134.0					19																	55693178		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55693178C>T		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.3292G>A	19.37:g.55693178C>T	ENSP00000365528:p.Glu1098Lys					PTPRH_uc010esv.2_Missense_Mutation_p.E920K|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank	p.E1098K	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	20	3365	-		Renal(1328;0.245)	1098			Cytoplasmic (Potential).		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.3292G>A	CCDS33110.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.16	1.273079	0.23221	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.05855	3.38;4.37	3.15	0.732	0.18283	.	.	.	.	.	T	0.02571	0.0078	N	0.19112	0.55	0.09310	N	1	B;P	0.44521	0.305;0.837	B;B	0.26416	0.016;0.069	T	0.46373	-0.9196	9	0.14252	T	0.57	.	7.2831	0.26322	0.0:0.7226:0.1712:0.1062	.	920;1098	C9JCH2;Q9HD43	.;PTPRH_HUMAN	K	1098;920	ENSP00000365528:E1098K;ENSP00000263434:E920K	ENSP00000263434:E920K	E	-	1	0	PTPRH	60384990	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.488000	0.06497	0.108000	0.17862	-0.156000	0.13503	GAA		PASS	0.592	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			22	201	22	201	---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56424006	56424007	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr19:56424006_56424007CC>AA	ENST00000342929.3	-	5	1175_1176	c.1176_1177GG>TT	c.(1174-1179)cgGGta>cgTTta	p.V393L	NLRP13_ENST00000588751.1_Missense_Mutation_p.V393L	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	393	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.V393L(2)|p.R392R(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATGAAATATACCCGTAGGTCGT	0.431																																						uc010ygg.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(1177-1179)GTA>TTA|c.(1174-1176)CGG>CGT		NACHT, leucine rich repeat and PYD containing																																				SO:0001583	missense	126204						ATP binding	g.chr19:56424006C>A|g.chr19:56424007C>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1176_1177delinsAA	19.37:g.56424006_56424007delinsAA	ENSP00000343891:p.Val393Leu						p.V393L|p.R392R	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	1202|1201	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	393|392			NACHT.		Q7RTR5	Missense_Mutation|Silent	SNP	ENST00000342929.3	37	c.1177G>T|c.1176G>T	CCDS33119.1																																																																																				PASS	0.431	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		63	196|197	63	196	---	---	---	---
NLRP8	126205	broad.mit.edu	37	19	56466738	56466738	+	Missense_Mutation	SNP	A	A	T	rs138591327	byFrequency	TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr19:56466738A>T	ENST00000291971.3	+	3	1385	c.1314A>T	c.(1312-1314)agA>agT	p.R438S	NLRP8_ENST00000590542.1_Missense_Mutation_p.R438S	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	438	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.R438S(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTCCCACCAGAGCTGAGAACT	0.478																																						uc002qmh.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(1312-1314)AGA>AGT		NLR family, pyrin domain containing 8							84.0	86.0	85.0					19																	56466738		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466738A>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1314A>T	19.37:g.56466738A>T	ENSP00000291971:p.Arg438Ser					NLRP8_uc010etg.2_Missense_Mutation_p.R438S	p.R438S	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1385	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	438			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.1314A>T	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	A	2.528	-0.309271	0.05458	.	.	ENSG00000179709	ENST00000291971	D	0.82711	-1.64	1.65	-0.747	0.11091	.	.	.	.	.	T	0.64649	0.2617	L	0.28192	0.835	0.09310	N	1	P;P	0.44044	0.825;0.61	B;B	0.39119	0.291;0.191	T	0.57130	-0.7864	9	0.09590	T	0.72	.	4.488	0.11799	0.4146:0.0:0.5854:0.0	.	438;438	Q86W28-2;Q86W28	.;NALP8_HUMAN	S	438	ENSP00000291971:R438S	ENSP00000291971:R438S	R	+	3	2	NLRP8	61158550	0.000000	0.05858	0.001000	0.08648	0.160000	0.22226	-0.174000	0.09839	-0.204000	0.10235	0.334000	0.21626	AGA		PASS	0.478	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		51	144	51	144	---	---	---	---
ZIM2	23619	broad.mit.edu	37	19	57286858	57286858	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr19:57286858T>C	ENST00000391708.3	-	12	1324	c.782A>G	c.(781-783)aAc>aGc	p.N261S	AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.N261S|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000221722.5_Missense_Mutation_p.N261S|ZIM2_ENST00000601070.1_Missense_Mutation_p.N261S|ZIM2_ENST00000599935.1_Missense_Mutation_p.N261S|AC006115.3_ENST00000595954.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.N261S(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		TTTCTCTTGGTTGCCCTGGTG	0.458																																						uc002qnr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(781-783)AAC>AGC		zinc finger, imprinted 2							97.0	89.0	91.0					19																	57286858		2203	4300	6503	SO:0001583	missense	23619				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57286858T>C	AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.782A>G	19.37:g.57286858T>C	ENSP00000375589:p.Asn261Ser					uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Missense_Mutation_p.N57S|ZIM2_uc010ygr.1_Missense_Mutation_p.N57S|ZIM2_uc002qnq.2_Missense_Mutation_p.N261S|ZIM2_uc010etp.2_Missense_Mutation_p.N261S|ZIM2_uc010ygs.1_Missense_Mutation_p.N261S	p.N261S	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN		GBM - Glioblastoma multiforme(193;0.0314)	11	1164	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	261					Q2M3K1	Missense_Mutation	SNP	ENST00000391708.3	37	c.782A>G	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	T	2.542	-0.306043	0.05458	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.04194	3.68;3.68	3.94	-7.71	0.01254	.	.	.	.	.	T	0.02455	0.0075	N	0.24115	0.695	.	.	.	B	0.09022	0.002	B	0.06405	0.002	T	0.43310	-0.9399	8	0.27785	T	0.31	.	2.7736	0.05341	0.2189:0.4078:0.2222:0.1511	.	261	Q9NZV7	ZIM2_HUMAN	S	261	ENSP00000375589:N261S;ENSP00000221722:N261S	ENSP00000221722:N261S	N	-	2	0	ZIM2	61978670	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.295000	0.08298	-2.084000	0.00866	-1.140000	0.01884	AAC		PASS	0.458	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2			50	122	50	122	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57328312	57328313	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr19:57328312_57328313CC>AA	ENST00000326441.9	-	10	1860_1861	c.1497_1498GG>TT	c.(1495-1500)caGGtt>caTTtt	p.499_500QV>HF	PEG3_ENST00000593695.1_Missense_Mutation_p.373_374QV>HF|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.375_376QV>HF|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.499_500QV>HF|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	499					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.V500F(2)|p.Q499_V500>HF(2)|p.Q499H(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTCCCTCCAACCTGACTTTTCT	0.441																																						uc002qnu.2																			6	Substitution - Missense(4)|Complex - compound substitution(2)		lung(6)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(1498-1500)GTT>TTT|c.(1495-1497)CAG>CAT		paternally expressed 3 isoform 1																																				SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328312C>A|g.chr19:57328313C>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1497_1498delinsAA	19.37:g.57328312_57328313delinsAA	ENSP00000326581:p.Q499_V500delinsHF					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.V471F|PEG3_uc002qnv.2_Missense_Mutation_p.V500F|PEG3_uc002qnw.2_Missense_Mutation_p.V376F|PEG3_uc002qnx.2_Missense_Mutation_p.V374F|PEG3_uc010etr.2_Missense_Mutation_p.V500F|ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.Q470H|PEG3_uc002qnv.2_Missense_Mutation_p.Q499H|PEG3_uc002qnw.2_Missense_Mutation_p.Q375H|PEG3_uc002qnx.2_Missense_Mutation_p.Q373H|PEG3_uc010etr.2_Missense_Mutation_p.Q499H	p.V500F|p.Q499H	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	1849|1848	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	500|499					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1498G>T|c.1497G>T	CCDS12948.1																																																																																				PASS	0.441	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			64|65	216|215	64	215	---	---	---	---
TGM6	343641	broad.mit.edu	37	20	2384303	2384303	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr20:2384303C>A	ENST00000202625.2	+	9	1231	c.1170C>A	c.(1168-1170)ttC>ttA	p.F390L	TGM6_ENST00000381423.1_Missense_Mutation_p.F390L	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	390					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.F390L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ATGGCCCCTTCGTGTTTGCGG	0.617																																						uc002wfy.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1168-1170)TTC>TTA		transglutaminase 6	L-Glutamine(DB00130)						108.0	87.0	94.0					20																	2384303		2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2384303C>A	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1170C>A	20.37:g.2384303C>A	ENSP00000202625:p.Phe390Leu					TGM6_uc010gal.1_Missense_Mutation_p.F390L	p.F390L	NM_198994	NP_945345	O95932	TGM3L_HUMAN			9	1231	+			390					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.1170C>A	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258748	0.80246	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	D;D	0.85484	-1.99;-1.99	4.9	-5.44	0.02624	.	0.000000	0.85682	D	0.000000	D	0.91109	0.7201	M	0.89163	3.01	0.35793	D	0.822521	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.91226	0.5010	10	0.87932	D	0	-25.7567	12.9774	0.58544	0.0:0.3546:0.0:0.6454	.	390;390	O95932-2;O95932	.;TGM3L_HUMAN	L	390	ENSP00000202625:F390L;ENSP00000370831:F390L	ENSP00000202625:F390L	F	+	3	2	TGM6	2332303	0.086000	0.21541	0.920000	0.36463	0.975000	0.68041	-0.611000	0.05622	-0.919000	0.03803	-0.272000	0.10252	TTC		PASS	0.617	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		45	83	45	83	---	---	---	---
MACROD2	140733	broad.mit.edu	37	20	14665530	14665530	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr20:14665530G>T	ENST00000310348.4	+	5	343	c.343G>T	c.(343-345)Gct>Tct	p.A115S	MACROD2_ENST00000464883.1_3'UTR|MACROD2_ENST00000217246.4_Missense_Mutation_p.A115S			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	115	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.A115S(1)		breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CTGTTTGCTAGCTGAATGTCG	0.408																																						uc002wou.2																			1	Substitution - Missense(1)		lung(1)		0						c.(343-345)GCT>TCT		MACRO domain containing 2 isoform 1							142.0	133.0	136.0					20																	14665530		1894	4127	6021	SO:0001583	missense	140733							g.chr20:14665530G>T	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.343G>T	20.37:g.14665530G>T	ENSP00000309809:p.Ala115Ser					MACROD2_uc002wot.2_Missense_Mutation_p.A115S|MACROD2_uc002wox.2_RNA	p.A115S	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN			5	607	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	115			Macro.		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	c.343G>T	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451933	0.43531	.	.	ENSG00000172264	ENST00000217246;ENST00000310348	T;T	0.21932	1.98;1.98	5.62	5.62	0.85841	Appr-1-p processing (3);	0.310402	0.25096	N	0.033173	T	0.28995	0.0720	L	0.60957	1.885	0.80722	D	1	P;B	0.43938	0.822;0.248	P;B	0.45753	0.492;0.081	T	0.02398	-1.1165	10	0.13108	T	0.6	-14.1309	18.6571	0.91458	0.0:0.0:1.0:0.0	.	115;115	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	S	115	ENSP00000217246:A115S;ENSP00000309809:A115S	ENSP00000217246:A115S	A	+	1	0	MACROD2	14613530	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	6.383000	0.73172	2.642000	0.89623	0.655000	0.94253	GCT		PASS	0.408	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		57	226	57	226	---	---	---	---
NCOA6	23054	broad.mit.edu	37	20	33328762	33328762	+	Silent	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr20:33328762C>T	ENST00000374796.2	-	12	7868	c.5298G>A	c.(5296-5298)ttG>ttA	p.L1766L	NCOA6_ENST00000359003.2_Silent_p.L1766L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1766	EP300/CRSP3-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.L1766L(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CATCTGGATTCAATTCTTTCA	0.507																																						uc002xav.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(3)|central_nervous_system(1)	7						c.(5296-5298)TTG>TTA		nuclear receptor coactivator 6							82.0	80.0	81.0					20																	33328762		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33328762C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.5298G>A	20.37:g.33328762C>T						NCOA6_uc002xaw.2_Silent_p.L1766L	p.L1766L	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			12	7869	-			1766			EP300/CRSP3-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.5298G>A	CCDS13241.1																																																																																				PASS	0.507	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		19	88	19	88	---	---	---	---
NCOA6	23054	broad.mit.edu	37	20	33370155	33370155	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr20:33370155C>T	ENST00000374796.2	-	4	2574	c.4G>A	c.(4-6)Gtt>Att	p.V2I	NCOA6_ENST00000359003.2_Missense_Mutation_p.V2I			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	2	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.V2I(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TCATCCAAAACCATGGTGAAT	0.363																																						uc002xav.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|central_nervous_system(1)	7						c.(4-6)GTT>ATT		nuclear receptor coactivator 6							43.0	39.0	40.0					20																	33370155		2203	4299	6502	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33370155C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.4G>A	20.37:g.33370155C>T	ENSP00000363929:p.Val2Ile					NCOA6_uc002xaw.2_Missense_Mutation_p.V2I|NCOA6_uc010gew.1_Missense_Mutation_p.V2I	p.V2I	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			4	2575	-			2			TBP/GTF2A-binding region.|NCOA1-binding region.|CREBBP-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.4G>A	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	C	35	5.432939	0.96150	.	.	ENSG00000198646	ENST00000374796;ENST00000359003;ENST00000397675	T;T	0.26660	1.72;1.72	5.84	5.84	0.93424	.	0.000000	0.56097	D	0.000032	T	0.24774	0.0601	N	0.19112	0.55	0.40817	D	0.98347	B;P	0.46656	0.341;0.882	B;B	0.43701	0.118;0.428	T	0.03335	-1.1047	10	0.87932	D	0	-6.2428	20.1295	0.97995	0.0:1.0:0.0:0.0	.	2;2	F6M2K2;Q14686	.;NCOA6_HUMAN	I	2	ENSP00000363929:V2I;ENSP00000351894:V2I	ENSP00000351894:V2I	V	-	1	0	NCOA6	32833816	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.793000	0.47845	2.758000	0.94735	0.591000	0.81541	GTT		PASS	0.363	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		33	84	33	84	---	---	---	---
PPP1R16B	26051	broad.mit.edu	37	20	37536831	37536831	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr20:37536831G>T	ENST00000299824.1	+	10	1378	c.1189G>T	c.(1189-1191)Gac>Tac	p.D397Y	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.D355Y	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	397					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.D397Y(1)		biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AGAGAATAAGGACCCTGTGAG	0.612																																						uc002xje.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3						c.(1189-1191)GAC>TAC		protein phosphatase 1 regulatory inhibitor							81.0	75.0	77.0					20																	37536831		2203	4300	6503	SO:0001583	missense	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37536831G>T	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1189G>T	20.37:g.37536831G>T	ENSP00000299824:p.Asp397Tyr					PPP1R16B_uc010ggc.2_Missense_Mutation_p.D355Y	p.D397Y	NM_015568	NP_056383	Q96T49	PP16B_HUMAN			10	1378	+		Myeloproliferative disorder(115;0.00878)	397					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	c.1189G>T	CCDS13309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.51|15.51	2.853696|2.853696	0.51270|0.51270	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000299824;ENST00000373331|ENST00000438192	T;T|.	0.72167|.	-0.43;-0.63|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.158916|.	0.56097|.	D|.	0.000027|.	T|T	0.46151|0.46151	0.1378|0.1378	N|N	0.22421|0.22421	0.69|0.69	0.37921|0.37921	D|D	0.931701|0.931701	P;B|.	0.46277|.	0.875;0.432|.	B;B|.	0.38327|.	0.271;0.135|.	T|T	0.44892|0.44892	-0.9298|-0.9298	10|5	0.59425|.	D|.	0.04|.	.|.	12.5717|12.5717	0.56341|0.56341	0.0758:0.0:0.9242:0.0|0.0758:0.0:0.9242:0.0	.|.	355;397|.	E9PFS8;Q96T49|.	.;PP16B_HUMAN|.	Y|S	397;355|297	ENSP00000299824:D397Y;ENSP00000362428:D355Y|.	ENSP00000299824:D397Y|.	D|R	+|+	1|3	0|2	PPP1R16B|PPP1R16B	36970245|36970245	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	3.867000|3.867000	0.56047|0.56047	2.771000|2.771000	0.95319|0.95319	0.644000|0.644000	0.83932|0.83932	GAC|AGG		PASS	0.612	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		20	45	20	45	---	---	---	---
PREX1	57580	broad.mit.edu	37	20	47266097	47266097	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr20:47266097A>T	ENST00000371941.3	-	25	3068	c.3046T>A	c.(3046-3048)Tcg>Acg	p.S1016T	PREX1_ENST00000396220.1_Missense_Mutation_p.S1016T	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1016					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.S1016T(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)			TGGGTGTACGACATGGGGTTC	0.587																																						uc002xtw.1																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|pancreas(1)	6						c.(3046-3048)TCG>ACG		phosphatidylinositol-3,4,							54.0	41.0	46.0					20																	47266097		2201	4300	6501	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47266097A>T	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.3046T>A	20.37:g.47266097A>T	ENSP00000361009:p.Ser1016Thr					PREX1_uc002xtv.1_Missense_Mutation_p.S313T	p.S1016T	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		25	3069	-			1016					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.3046T>A	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	A	12.82	2.051355	0.36181	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.51574	0.7;0.7	4.74	3.61	0.41365	.	0.115804	0.37906	U	0.001890	T	0.47284	0.1437	L	0.60455	1.87	0.40632	D	0.981861	B;P	0.51057	0.128;0.941	B;P	0.47251	0.066;0.542	T	0.38972	-0.9636	10	0.29301	T	0.29	.	10.516	0.44889	0.8304:0.1696:0.0:0.0	.	1016;313	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	T	1016	ENSP00000361009:S1016T;ENSP00000379522:S1016T	ENSP00000361009:S1016T	S	-	1	0	PREX1	46699504	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	2.040000	0.41203	0.641000	0.30601	0.533000	0.62120	TCG		PASS	0.587	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		4	22	4	22	---	---	---	---
APCDD1L	164284	broad.mit.edu	37	20	57042215	57042215	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr20:57042215C>T	ENST00000371149.3	-	3	918	c.688G>A	c.(688-690)Gag>Aag	p.E230K	APCDD1L_ENST00000439429.1_Missense_Mutation_p.E241K	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	230						integral component of membrane (GO:0016021)		p.E230K(1)		large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			TGCCGCCTCTCCGCCGGGTCG	0.736																																						uc002xze.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(688-690)GAG>AAG		adenomatosis polyposis coli down-regulated							21.0	26.0	24.0					20																	57042215		2200	4297	6497	SO:0001583	missense	164284					integral to membrane		g.chr20:57042215C>T	AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768			26892	protein-coding gene	gene with protein product							Standard	NM_153360		Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.688G>A	20.37:g.57042215C>T	ENSP00000360191:p.Glu230Lys					APCDD1L_uc010zzp.1_Missense_Mutation_p.E241K	p.E230K	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)		3	874	-	Lung NSC(12;0.000856)|all_lung(29;0.0025)		230						Missense_Mutation	SNP	ENST00000371149.3	37	c.688G>A	CCDS13467.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.245815	0.39697	.	.	ENSG00000198768	ENST00000371149;ENST00000439429	T;T	0.17854	2.25;2.25	5.27	3.28	0.37604	.	0.210125	0.44097	D	0.000490	T	0.32102	0.0818	M	0.76838	2.35	0.32711	N	0.5116	P;B	0.39326	0.668;0.29	P;B	0.46320	0.512;0.185	T	0.52155	-0.8613	10	0.72032	D	0.01	-16.4997	15.6032	0.76642	0.0:0.7392:0.2608:0.0	.	241;230	F5H6V6;Q8NCL9	.;APCDL_HUMAN	K	230;241	ENSP00000360191:E230K;ENSP00000413261:E241K	ENSP00000360191:E230K	E	-	1	0	APCDD1L	56475621	0.978000	0.34361	0.194000	0.23346	0.371000	0.29859	2.423000	0.44705	0.583000	0.29574	-0.273000	0.10243	GAG		PASS	0.736	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000079881.2	NM_153360		12	21	12	21	---	---	---	---
NCAM2	4685	broad.mit.edu	37	21	22656553	22656553	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr21:22656553A>T	ENST00000400546.1	+	3	419	c.170A>T	c.(169-171)cAa>cTa	p.Q57L	NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Missense_Mutation_p.Q82L|NCAM2_ENST00000284894.7_Intron	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	57	Ig-like C2-type 1.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q57L(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TATAATCCTCAAGGAGAGAAG	0.358																																						uc002yld.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(169-171)CAA>CTA		neural cell adhesion molecule 2 precursor							118.0	109.0	112.0					21																	22656553		1846	4089	5935	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22656553A>T		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.170A>T	21.37:g.22656553A>T	ENSP00000383392:p.Gln57Leu					NCAM2_uc011acb.1_Intron|NCAM2_uc011acc.1_Missense_Mutation_p.Q82L	p.Q57L	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	3	419	+		Lung NSC(9;0.195)	57			Ig-like C2-type 1.|Extracellular (Potential).		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.170A>T	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	A	19.77	3.889739	0.72524	.	.	ENSG00000154654	ENST00000400546;ENST00000535285	T;T	0.28069	1.63;1.63	5.58	5.58	0.84498	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.46658	0.1404	L	0.39692	1.235	0.54753	D	0.999981	D;D	0.71674	0.998;0.998	D;D	0.77004	0.989;0.989	T	0.40098	-0.9581	10	0.52906	T	0.07	-20.9838	14.5721	0.68218	1.0:0.0:0.0:0.0	.	82;57	B7Z841;O15394	.;NCAM2_HUMAN	L	57;82	ENSP00000383392:Q57L;ENSP00000441887:Q82L	ENSP00000383392:Q57L	Q	+	2	0	NCAM2	21578424	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.805000	0.55575	2.127000	0.65507	0.482000	0.46254	CAA		PASS	0.358	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		27	72	27	72	---	---	---	---
FTCD	10841	broad.mit.edu	37	21	47557212	47557212	+	Missense_Mutation	SNP	C	C	T	rs398124233		TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr21:47557212C>T	ENST00000291670.5	-	13	1523	c.1480G>A	c.(1480-1482)Gca>Aca	p.A494T	FTCD_ENST00000397743.1_Missense_Mutation_p.R479H|FTCD_ENST00000397748.1_Missense_Mutation_p.A494T|FTCD_ENST00000355384.2_Missense_Mutation_p.R479H|FTCD_ENST00000397746.3_Missense_Mutation_p.A494T|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000359679.2_Missense_Mutation_p.A494T	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	494	Cyclodeaminase/cyclohydrolase. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|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)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)	p.A494T(1)		endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	TTGAAATATGCGCCAAACACG	0.607																																						uc002zif.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1480-1482)GCA>ACA		formiminotransferase cyclodeaminase	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						164.0	152.0	156.0					21																	47557212		2203	4300	6503	SO:0001583	missense	10841				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity	g.chr21:47557212C>T	U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"""formiminotransferase cyclodeaminase"""			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.1480G>A	21.37:g.47557212C>T	ENSP00000291670:p.Ala494Thr					FTCD_uc002zie.2_RNA|FTCD_uc002zig.2_Missense_Mutation_p.A494T|FTCD_uc002zih.2_Missense_Mutation_p.A494T|FTCD_uc010gqf.2_Missense_Mutation_p.R479H|FTCD_uc010gqg.1_Missense_Mutation_p.A363T	p.A494T	NM_006657	NP_006648	O95954	FTCD_HUMAN		Colorectal(79;0.235)	13	1524	-	Breast(49;0.214)		494			Cyclodeaminase/cyclohydrolase (By similarity).		B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Missense_Mutation	SNP	ENST00000291670.5	37	c.1480G>A	CCDS13731.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.04|17.04	3.288365|3.288365	0.59976|0.59976	.|.	.|.	ENSG00000160282|ENSG00000160282	ENST00000291670;ENST00000397748;ENST00000359679;ENST00000397746|ENST00000355384;ENST00000397743	T;T;T;T|D;D	0.58060|0.84589	0.36;0.36;0.36;0.36|-1.87;-1.87	4.12|4.12	4.12|4.12	0.48240|0.48240	Cyclodeaminase/cyclohydrolase (2);|.	0.000000|.	0.85682|.	U|.	0.000000|.	D|D	0.87341|0.87341	0.6153|0.6153	H|H	0.94582|0.94582	3.555|3.555	0.40606|0.40606	D|D	0.981622|0.981622	D;D|P	0.89917|0.46277	1.0;1.0|0.875	D;D|B	0.85130|0.32289	0.985;0.997|0.143	D|D	0.91732|0.91732	0.5397|0.5397	10|9	0.87932|0.66056	D|D	0|0.02	-18.7525|-18.7525	16.3693|16.3693	0.83347|0.83347	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	494;494|479	O95954-2;O95954|B7WPK3	.;FTCD_HUMAN|.	T|H	494|479	ENSP00000291670:A494T;ENSP00000380856:A494T;ENSP00000352707:A494T;ENSP00000380854:A494T|ENSP00000347545:R479H;ENSP00000380851:R479H	ENSP00000291670:A494T|ENSP00000347545:R479H	A|R	-|-	1|2	0|0	FTCD|FTCD	46381640|46381640	0.999000|0.999000	0.42202|0.42202	0.223000|0.223000	0.23860|0.23860	0.063000|0.063000	0.16089|0.16089	4.384000|4.384000	0.59607|0.59607	1.842000|1.842000	0.53543|0.53543	0.455000|0.455000	0.32223|0.32223	GCA|CGC		PASS	0.607	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206962.1	NM_006657		4	144	4	144	---	---	---	---
PCNT	5116	broad.mit.edu	37	21	47777037	47777037	+	Silent	SNP	A	A	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr21:47777037A>T	ENST00000359568.5	+	13	2192	c.2085A>T	c.(2083-2085)ctA>ctT	p.L695L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	695	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.L695L(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TTGAACTCCTAAAAATAGAAA	0.483																																						uc002zji.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(2)|pancreas(2)	8						c.(2083-2085)CTA>CTT		pericentrin							50.0	57.0	55.0					21																	47777037		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47777037A>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2085A>T	21.37:g.47777037A>T						PCNT_uc002zjj.2_Silent_p.L577L	p.L695L	NM_006031	NP_006022	O95613	PCNT_HUMAN			13	2192	+	Breast(49;0.112)		695			Glu-rich.|Potential.		O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.2085A>T	CCDS33592.1																																																																																				PASS	0.483	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		57	96	57	96	---	---	---	---
IGLL1	3543	broad.mit.edu	37	22	23917219	23917219	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr22:23917219C>A	ENST00000330377.2	-	2	374	c.257G>T	c.(256-258)gGg>gTg	p.G86V	IGLL1_ENST00000249053.3_Intron|AP000345.2_ENST00000458318.1_RNA|AP000345.2_ENST00000454863.1_RNA	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	86					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.G86V(1)		kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						GGATTGAAACCCCCGGGGCCA	0.617																																						uc002zxd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(256-258)GGG>GTG		immunoglobulin lambda-like polypeptide 1 isoform							60.0	58.0	59.0					22																	23917219		2203	4300	6503	SO:0001583	missense	3543				immune response	extracellular region|membrane		g.chr22:23917219C>A	X52204	CCDS13809.1, CCDS13810.1	22q11.23	2014-09-17			ENSG00000128322	ENSG00000128322		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	5870	protein-coding gene	gene with protein product		146770		IGLL		3139558, 2511029	Standard	NM_020070		Approved	IGVPB, IGL5, 14.1, CD179B	uc002zxd.3	P15814	OTTHUMG00000150673	ENST00000330377.2:c.257G>T	22.37:g.23917219C>A	ENSP00000329312:p.Gly86Val					IGLL1_uc002zxe.2_Intron	p.G86V	NM_020070	NP_064455	P15814	IGLL1_HUMAN			2	375	-			86					Q0P681	Missense_Mutation	SNP	ENST00000330377.2	37	c.257G>T	CCDS13809.1	.	.	.	.	.	.	.	.	.	.	-	8.274	0.813996	0.16537	.	.	ENSG00000128322	ENST00000330377;ENST00000438703	T;T	0.00912	6.88;5.55	1.74	0.285	0.15705	.	.	.	.	.	T	0.01156	0.0038	L	0.55481	1.735	0.20196	N	0.999922	B	0.29571	0.249	B	0.28991	0.097	T	0.44375	-0.9332	9	0.46703	T	0.11	.	4.3958	0.11362	0.3861:0.6139:0.0:0.0	.	86	P15814	IGLL1_HUMAN	V	86;87	ENSP00000329312:G86V;ENSP00000403391:G87V	ENSP00000329312:G86V	G	-	2	0	IGLL1	22247219	0.000000	0.05858	0.640000	0.29408	0.034000	0.12701	0.002000	0.13061	0.936000	0.37367	0.152000	0.16155	GGG		PASS	0.617	IGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319569.1	NM_020070		9	77	9	77	---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26164642	26164642	+	Silent	SNP	G	G	C			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr22:26164642G>C	ENST00000407587.2	+	4	928	c.759G>C	c.(757-759)ctG>ctC	p.L253L	MYO18B_ENST00000335473.7_Silent_p.L253L|MYO18B_ENST00000536101.1_Silent_p.L253L			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	253						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.L253L(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCACAGAGCTGAAAGAGGCTG	0.637																																						uc003abz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(757-759)CTG>CTC		myosin XVIIIB							22.0	28.0	26.0					22																	26164642		1902	4107	6009	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26164642G>C	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.759G>C	22.37:g.26164642G>C						MYO18B_uc003aca.1_Silent_p.L134L|MYO18B_uc010guy.1_Silent_p.L134L|MYO18B_uc010guz.1_Silent_p.L134L|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	p.L253L	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			4	1009	+			253					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.759G>C																																																																																					PASS	0.637	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		3	13	3	13	---	---	---	---
DEPDC5	9681	broad.mit.edu	37	22	32205622	32205622	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr22:32205622G>T	ENST00000382112.3	+	18	1383	c.1313G>T	c.(1312-1314)gGc>gTc	p.G438V	DEPDC5_ENST00000400246.1_Missense_Mutation_p.G438V|DEPDC5_ENST00000382105.2_Missense_Mutation_p.G438V|DEPDC5_ENST00000400248.2_Missense_Mutation_p.G438V|DEPDC5_ENST00000266091.3_Missense_Mutation_p.G438V|DEPDC5_ENST00000400249.2_Missense_Mutation_p.G438V|DEPDC5_ENST00000535622.1_Missense_Mutation_p.G438V|DEPDC5_ENST00000382111.2_Missense_Mutation_p.G438V|DEPDC5_ENST00000400242.3_Missense_Mutation_p.G438V|DEPDC5_ENST00000536766.1_Missense_Mutation_p.G410V	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	438					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.G438V(2)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GCAAAAAATGGCCGTGATACA	0.388																																						uc003als.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(3)|pancreas(1)	8						c.(1312-1314)GGC>GTC		DEP domain containing 5 isoform 1							94.0	91.0	92.0					22																	32205622		1828	4083	5911	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32205622G>T	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1313G>T	22.37:g.32205622G>T	ENSP00000371546:p.Gly438Val					DEPDC5_uc011als.1_Missense_Mutation_p.G438V|DEPDC5_uc011alu.1_Missense_Mutation_p.G438V|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.G438V|DEPDC5_uc003alr.1_Missense_Mutation_p.G438V|DEPDC5_uc011alt.1_Missense_Mutation_p.G410V	p.G438V	NM_014662	NP_055477	O75140	DEPD5_HUMAN			19	1455	+			438					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.1313G>T	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986694	0.53934	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T;T;T	0.42131	1.53;1.53;0.98;1.93;1.93;1.92;1.51;1.93;1.92;1.93	5.31	5.31	0.75309	.	0.147765	0.64402	D	0.000010	T	0.37293	0.0998	L	0.40543	1.245	0.80722	D	1	B;B;B;B;B;B	0.27559	0.112;0.082;0.181;0.002;0.09;0.003	B;B;B;B;B;B	0.26310	0.031;0.023;0.068;0.003;0.023;0.004	T	0.11060	-1.0603	10	0.30854	T	0.27	.	17.5973	0.88016	0.0:0.0:1.0:0.0	.	438;410;438;438;438;438	B9EGN9;F5GYZ8;B4DH93;A8MPX9;O75140;O75140-2	.;.;.;.;DEPD5_HUMAN;.	V	438;410;438;438;438;438;438;438;438;438;438	ENSP00000440210:G438V;ENSP00000441358:G410V;ENSP00000383101:G438V;ENSP00000266091:G438V;ENSP00000383108:G438V;ENSP00000383105:G438V;ENSP00000371539:G438V;ENSP00000371546:G438V;ENSP00000371545:G438V;ENSP00000383107:G438V	ENSP00000266091:G438V	G	+	2	0	DEPDC5	30535622	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.636000	0.61339	2.491000	0.84063	0.650000	0.86243	GGC		PASS	0.388	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		20	90	20	90	---	---	---	---
SLC5A1	6523	broad.mit.edu	37	22	32482219	32482219	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr22:32482219G>T	ENST00000266088.4	+	10	1284	c.1034G>T	c.(1033-1035)tGt>tTt	p.C345F	SLC5A1_ENST00000543737.1_Missense_Mutation_p.C218F	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	345					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)	p.C345F(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	AAAATTGCCTGTGTCGTCCCT	0.453																																						uc003amc.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1033-1035)TGT>TTT		solute carrier family 5 (sodium/glucose							177.0	158.0	164.0					22																	32482219		2203	4300	6503	SO:0001583	missense	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32482219G>T		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1034G>T	22.37:g.32482219G>T	ENSP00000266088:p.Cys345Phe					SLC5A1_uc011alz.1_Missense_Mutation_p.C218F	p.C345F	NM_000343	NP_000334	P13866	SC5A1_HUMAN			10	1266	+			345			Extracellular (Potential).		B2R7E2|B7Z4Q9|B7ZA69	Missense_Mutation	SNP	ENST00000266088.4	37	c.1034G>T	CCDS13902.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.428416	0.62844	.	.	ENSG00000100170	ENST00000266088;ENST00000543737	D;D	0.88431	-2.38;-2.38	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.95287	0.8471	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95648	0.8704	10	0.72032	D	0.01	.	18.3634	0.90383	0.0:0.0:1.0:0.0	.	345	P13866	SC5A1_HUMAN	F	345;218	ENSP00000266088:C345F;ENSP00000444898:C218F	ENSP00000266088:C345F	C	+	2	0	SLC5A1	30812219	1.000000	0.71417	0.960000	0.40013	0.290000	0.27261	9.630000	0.98420	2.656000	0.90262	0.585000	0.79938	TGT		PASS	0.453	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		53	180	53	180	---	---	---	---
SH3BP1	23616	broad.mit.edu	37	22	38039103	38039103	+	Splice_Site	SNP	A	A	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chr22:38039103A>T	ENST00000357436.4	+	6	709		c.e6-1		SH3BP1_ENST00000336738.5_Splice_Site|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000495174.1_Splice_Site|SH3BP1_ENST00000442465.2_Splice_Site|SH3BP1_ENST00000599616.1_Splice_Site	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1						signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)	p.?(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GCCCATCCCCAGGAGGAGCTG	0.637											OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ati.2																			1	Unknown(1)		lung(1)	central_nervous_system(1)	1						c.e6-2		SH3-domain binding protein 1							21.0	23.0	22.0					22																	38039103		2203	4298	6501	SO:0001630	splice_region_variant	23616				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	g.chr22:38039103A>T		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"""Rho GTPase activating proteins"""	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.397-1A>T	22.37:g.38039103A>T			OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	SH3BP1_uc003atg.1_Splice_Site|SH3BP1_uc011anl.1_Splice_Site_p.E133_splice|SH3BP1_uc003ath.1_Splice_Site_p.E133_splice|SH3BP1_uc003atj.1_Splice_Site_p.E69_splice|SH3BP1_uc003atk.1_Splice_Site_p.E47_splice|uc003atl.1_Intron	p.E133_splice	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN			6	508	+	Melanoma(58;0.0574)							Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Splice_Site	SNP	ENST00000357436.4	37	c.397_splice	CCDS13952.2	.	.	.	.	.	.	.	.	.	.	A	9.573	1.121653	0.20877	.	.	ENSG00000100092	ENST00000357436;ENST00000336738;ENST00000442465;ENST00000397014	.	.	.	5.21	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5532	0.39324	0.9197:0.0:0.0803:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SH3BP1	36369049	1.000000	0.71417	0.950000	0.38849	0.048000	0.14542	6.326000	0.72905	0.824000	0.34613	0.482000	0.46254	.		PASS	0.637	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957	Intron	5	9	5	9	---	---	---	---
STS	412	broad.mit.edu	37	X	7223133	7223133	+	Silent	SNP	C	C	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chrX:7223133C>T	ENST00000217961.4	+	7	1225	c.1005C>T	c.(1003-1005)acC>acT	p.T335T		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	335					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)	p.T335T(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	CTAATGATACCCTCATCTACT	0.413									Ichthyosis																													uc004cry.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1003-1005)ACC>ACT		steryl-sulfatase precursor	Estrone(DB00655)						132.0	112.0	119.0					X																	7223133		2203	4299	6502	SO:0001819	synonymous_variant	412	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity	g.chrX:7223133C>T	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"""Arylsulfatase family"""	11425	protein-coding gene	gene with protein product	"""arylsulfatase C"""	300747	"""steroid sulfatase (microsomal), arylsulfatase C, isozyme S"""	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.1005C>T	X.37:g.7223133C>T							p.T335T	NM_000351	NP_000342	P08842	STS_HUMAN			7	1250	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	335			Lumenal.		B2RA47	Silent	SNP	ENST00000217961.4	37	c.1005C>T	CCDS14127.1																																																																																				PASS	0.413	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	NM_000351		25	48	25	48	---	---	---	---
MSL3	10943	broad.mit.edu	37	X	11786713	11786713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chrX:11786713C>A	ENST00000312196.4	+	10	1298	c.1193C>A	c.(1192-1194)tCa>tAa	p.S398*	MSL3_ENST00000380693.3_Nonsense_Mutation_p.S232*|MSL3_ENST00000361672.2_Nonsense_Mutation_p.S249*|MSL3_ENST00000398527.2_Nonsense_Mutation_p.S386*|MSL3_ENST00000467141.1_3'UTR	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	398	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.|Required for the histone acetyltransferase activity of the MSL complex.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S398*(1)		breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						CATAGCAGATCATCTTCACCT	0.398																																						uc004cuw.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1192-1194)TCA>TAA		male-specific lethal 3-like 1 isoform a							133.0	114.0	121.0					X																	11786713		2203	4300	6503	SO:0001587	stop_gained	10943				histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	g.chrX:11786713C>A	AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.1193C>A	X.37:g.11786713C>A	ENSP00000312244:p.Ser398*					MSL3_uc004cux.2_Nonsense_Mutation_p.S339*|MSL3_uc011mig.1_Nonsense_Mutation_p.S249*|MSL3_uc011mih.1_Nonsense_Mutation_p.S386*|MSL3_uc004cuy.2_Nonsense_Mutation_p.S232*	p.S398*	NM_078629	NP_523353	Q8N5Y2	MS3L1_HUMAN			10	1298	+			398					A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Nonsense_Mutation	SNP	ENST00000312196.4	37	c.1193C>A	CCDS14147.1	.	.	.	.	.	.	.	.	.	.	C	43	10.297303	0.99378	.	.	ENSG00000005302	ENST00000312196;ENST00000361672;ENST00000398527;ENST00000380693	.	.	.	5.32	5.32	0.75619	.	0.075834	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.127	0.89589	0.0:1.0:0.0:0.0	.	.	.	.	X	398;249;386;232	.	ENSP00000312244:S398X	S	+	2	0	MSL3	11696634	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.678000	0.74508	2.218000	0.71995	0.600000	0.82982	TCA		PASS	0.398	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1	NM_006800		28	55	28	55	---	---	---	---
SCML2	10389	broad.mit.edu	37	X	18323182	18323182	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chrX:18323182C>G	ENST00000251900.4	-	7	799	c.640G>C	c.(640-642)Gat>Cat	p.D214H		NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	214					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D214H(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CACCAGTAATCAAAAGCTCCA	0.438																																					Esophageal Squamous(100;1252 1965 19021 35517)	uc004cyl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(640-642)GAT>CAT		sex comb on midleg-like 2							191.0	177.0	182.0					X																	18323182		2203	4300	6503	SO:0001583	missense	10389				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:18323182C>G	Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.640G>C	X.37:g.18323182C>G	ENSP00000251900:p.Asp214His					SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Missense_Mutation_p.D214H|SCML2_uc011miz.1_Missense_Mutation_p.D148H	p.D214H	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN			7	797	-	Hepatocellular(33;0.183)		214			MBT 2.		Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Missense_Mutation	SNP	ENST00000251900.4	37	c.640G>C	CCDS14185.1	.	.	.	.	.	.	.	.	.	.	c	22.5	4.302784	0.81136	.	.	ENSG00000102098	ENST00000251900;ENST00000442000	T	0.42900	0.96	5.59	4.73	0.59995	.	0.142052	0.64402	D	0.000008	T	0.72779	0.3503	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.74023	0.978;0.982	T	0.81150	-0.1064	10	0.87932	D	0	.	13.9287	0.63981	0.0:0.9249:0.0:0.0751	.	182;214	B4DZR9;Q9UQR0	.;SCML2_HUMAN	H	214;182	ENSP00000251900:D214H	ENSP00000251900:D214H	D	-	1	0	SCML2	18233103	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.576000	0.60915	1.249000	0.43950	0.509000	0.49947	GAT		PASS	0.438	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1	NM_006089		56	152	56	152	---	---	---	---
FAM47B	170062	broad.mit.edu	37	X	34962134	34962134	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chrX:34962134C>A	ENST00000329357.5	+	1	1222	c.1186C>A	c.(1186-1188)Cat>Aat	p.H396N		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	396								p.H396N(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TCGGATGCCCCATCTCCGCCT	0.572																																						uc004ddi.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1186-1188)CAT>AAT		hypothetical protein LOC170062							59.0	53.0	55.0					X																	34962134		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34962134C>A	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1186C>A	X.37:g.34962134C>A	ENSP00000328307:p.His396Asn						p.H396N	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	1204	+			396					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.1186C>A	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	C	3.620	-0.077720	0.07184	.	.	ENSG00000189132	ENST00000329357	T	0.13196	2.61	0.401	-0.802	0.10889	.	.	.	.	.	T	0.08846	0.0219	L	0.45581	1.43	0.09310	N	1	B	0.33883	0.43	B	0.30943	0.122	T	0.37572	-0.9700	8	0.14656	T	0.56	.	.	.	.	.	396	Q8NA70	FA47B_HUMAN	N	396	ENSP00000328307:H396N	ENSP00000328307:H396N	H	+	1	0	FAM47B	34872055	0.005000	0.15991	0.010000	0.14722	0.010000	0.07245	1.109000	0.31135	-0.717000	0.04955	-0.740000	0.03531	CAT		PASS	0.572	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		11	25	11	25	---	---	---	---
PHF8	23133	broad.mit.edu	37	X	54049215	54049215	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chrX:54049215C>A	ENST00000357988.5	-	3	626	c.268G>T	c.(268-270)Gaa>Taa	p.E90*	PHF8_ENST00000322659.8_Nonsense_Mutation_p.E54*|PHF8_ENST00000338946.6_Nonsense_Mutation_p.E54*|PHF8_ENST00000338154.6_Nonsense_Mutation_p.E54*	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	90					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.E54*(2)		endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TGCAAGACTTCACAGTTGGGG	0.438																																						uc004dsu.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)	3						c.(268-270)GAA>TAA		PHD finger protein 8							60.0	46.0	51.0					X																	54049215		2203	4300	6503	SO:0001587	stop_gained	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54049215C>A	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.268G>T	X.37:g.54049215C>A	ENSP00000350676:p.Glu90*					PHF8_uc004dst.2_Nonsense_Mutation_p.E54*|PHF8_uc004dsw.2_Nonsense_Mutation_p.E54*|PHF8_uc004dsy.2_Nonsense_Mutation_p.E54*	p.E90*	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN			3	341	-			90			PHD-type.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Nonsense_Mutation	SNP	ENST00000357988.5	37	c.268G>T	CCDS55420.1	.	.	.	.	.	.	.	.	.	.	C	37	6.218940	0.97385	.	.	ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659;ENST00000425862;ENST00000437224;ENST00000415025;ENST00000453905;ENST00000445025;ENST00000433120	.	.	.	5.59	4.72	0.59763	.	0.215309	0.48767	D	0.000178	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-12.9064	7.5812	0.27965	0.0:0.6297:0.2805:0.0897	.	.	.	.	X	90;54;54;84;54;54;54;54;90;54;54	.	ENSP00000319473:E54X	E	-	1	0	PHF8	54065940	0.982000	0.34865	1.000000	0.80357	0.921000	0.55340	1.259000	0.32956	1.128000	0.42052	0.538000	0.68166	GAA		PASS	0.438	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		14	18	14	18	---	---	---	---
TRO	7216	broad.mit.edu	37	X	54949443	54949443	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chrX:54949443G>T	ENST00000173898.7	+	3	590	c.478G>T	c.(478-480)Gag>Tag	p.E160*	TRO_ENST00000319167.8_Nonsense_Mutation_p.E160*|TRO_ENST00000375022.4_Nonsense_Mutation_p.E160*|TRO_ENST00000375041.2_Intron|TRO_ENST00000420798.2_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000484031.1_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	160					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E160*(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AACTGGCCATGAGGGTGGCAC	0.507																																						uc004dtq.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(478-480)GAG>TAG		trophinin isoform 5							43.0	42.0	42.0					X																	54949443		2054	4198	6252	SO:0001587	stop_gained	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54949443G>T	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.478G>T	X.37:g.54949443G>T	ENSP00000173898:p.Glu160*					TRO_uc011moj.1_Nonsense_Mutation_p.E103*|TRO_uc004dts.2_Nonsense_Mutation_p.E160*|TRO_uc004dtr.2_Nonsense_Mutation_p.E160*|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Intron|TRO_uc004dtw.2_Intron|TRO_uc004dtx.2_5'Flank	p.E160*	NM_001039705	NP_001034794	Q12816	TROP_HUMAN			3	585	+			160					B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Nonsense_Mutation	SNP	ENST00000173898.7	37	c.478G>T	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	G	6.640	0.486537	0.12641	.	.	ENSG00000067445	ENST00000411534;ENST00000430420;ENST00000442098;ENST00000173898;ENST00000319167;ENST00000375022;ENST00000440759;ENST00000449980;ENST00000416704;ENST00000427099	.	.	.	3.3	1.43	0.22495	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	5.0528	0.14518	0.0:0.2324:0.5244:0.2432	.	.	.	.	X	116;116;160;160;160;160;160;116;160;116	.	ENSP00000173898:E160X	E	+	1	0	TRO	54966168	0.681000	0.27614	0.001000	0.08648	0.002000	0.02628	1.654000	0.37334	0.230000	0.21059	-0.371000	0.07208	GAG		PASS	0.507	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		11	18	11	18	---	---	---	---
MAGEE1	57692	broad.mit.edu	37	X	75649297	75649297	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chrX:75649297G>T	ENST00000361470.2	+	1	1252	c.974G>T	c.(973-975)gGt>gTt	p.G325V		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	325	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.G325V(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCCACCCCTGGTGGGGGACTG	0.701																																						uc004ecm.1																			2	Substitution - Missense(2)		lung(2)	breast(3)|ovary(1)|pancreas(1)|skin(1)	6						c.(973-975)GGT>GTT		melanoma antigen family E, 1							20.0	20.0	20.0					X																	75649297		2202	4293	6495	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75649297G>T	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.974G>T	X.37:g.75649297G>T	ENSP00000354912:p.Gly325Val						p.G325V	NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN			1	1181	+			325			Pro-rich.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.974G>T	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	G	3.990	-0.004750	0.07773	.	.	ENSG00000198934	ENST00000361470	T	0.11277	2.79	1.95	-0.188	0.13264	.	.	.	.	.	T	0.04634	0.0126	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.42498	-0.9448	9	0.30078	T	0.28	.	4.854	0.13550	0.0:0.4428:0.3321:0.225	.	325	Q9HCI5	MAGE1_HUMAN	V	325	ENSP00000354912:G325V	ENSP00000354912:G325V	G	+	2	0	MAGEE1	75565701	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.505000	0.02273	-0.148000	0.11234	0.529000	0.55759	GGT		PASS	0.701	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		8	11	8	11	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91133883	91133883	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chrX:91133883C>A	ENST00000373094.1	+	2	3489	c.2644C>A	c.(2644-2646)Ctg>Atg	p.L882M	PCDH11X_ENST00000361724.1_Missense_Mutation_p.L882M|PCDH11X_ENST00000298274.8_Missense_Mutation_p.L882M|PCDH11X_ENST00000361655.2_Missense_Mutation_p.L882M|PCDH11X_ENST00000406881.1_Missense_Mutation_p.L882M|PCDH11X_ENST00000395337.2_Missense_Mutation_p.L882M|PCDH11X_ENST00000373088.1_Missense_Mutation_p.L882M|PCDH11X_ENST00000504220.2_Missense_Mutation_p.L882M|PCDH11X_ENST00000373097.1_Missense_Mutation_p.L882M	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	882					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.L882M(3)		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						TAAGAACTTGCTGCTTAATTT	0.393																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(2644-2646)CTG>ATG		protocadherin 11 X-linked isoform c							116.0	103.0	107.0					X																	91133883		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133883C>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.2644C>A	X.37:g.91133883C>A	ENSP00000362186:p.Leu882Met					PCDH11X_uc004efl.1_Missense_Mutation_p.L882M|PCDH11X_uc004efo.1_Missense_Mutation_p.L882M|PCDH11X_uc010nmv.1_Missense_Mutation_p.L882M|PCDH11X_uc004efm.1_Missense_Mutation_p.L882M|PCDH11X_uc004efn.1_Missense_Mutation_p.L882M|PCDH11X_uc004efh.1_Missense_Mutation_p.L882M|PCDH11X_uc004efj.1_Missense_Mutation_p.L882M	p.L882M	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	3489	+			882			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.2644C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	6.199	0.404798	0.11754	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.16	0.868	0.19090	Protocadherin (1);	0.141869	0.47852	D	0.000206	T	0.51312	0.1667	M	0.72894	2.215	0.27218	N	0.959747	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;0.999;0.999	D;D;D;D;D;D;D;D	0.81914	0.984;0.991;0.991;0.991;0.991;0.995;0.984;0.984	T	0.39542	-0.9609	10	0.59425	D	0.04	.	6.721	0.23330	0.1351:0.6214:0.0:0.2435	.	882;882;882;882;882;882;882;882	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	M	882	ENSP00000378746:L882M;ENSP00000362186:L882M;ENSP00000362189:L882M;ENSP00000355040:L882M;ENSP00000362180:L882M;ENSP00000423762:L882M;ENSP00000355105:L882M;ENSP00000384758:L882M;ENSP00000298274:L882M	ENSP00000298274:L882M	L	+	1	2	PCDH11X	91020539	0.962000	0.33011	0.764000	0.31436	0.133000	0.20885	1.815000	0.38981	0.085000	0.17107	0.600000	0.82982	CTG		PASS	0.393	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		35	44	35	44	---	---	---	---
DCX	1641	broad.mit.edu	37	X	110644366	110644366	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chrX:110644366C>A	ENST00000338081.3	-	3	971	c.800G>T	c.(799-801)cGc>cTc	p.R267L	DCX_ENST00000488120.1_Missense_Mutation_p.R186L|DCX_ENST00000371993.2_Missense_Mutation_p.R186L|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356915.2_Missense_Mutation_p.R186L|DCX_ENST00000356220.3_Missense_Mutation_p.R186L	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	267	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.		R -> C (in SBHX). {ECO:0000269|PubMed:10369164, ECO:0000269|PubMed:11175293, ECO:0000269|PubMed:9668176}.		axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)	p.R186L(1)|p.R267L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						CACCCCACTGCGGATGATGGT	0.537																																						uc004epd.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|lung(1)|skin(1)	4						c.(799-801)CGC>CTC		doublecortin isoform a							118.0	99.0	105.0					X																	110644366		2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110644366C>A	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.800G>T	X.37:g.110644366C>A	ENSP00000337697:p.Arg267Leu					DCX_uc011msv.1_Missense_Mutation_p.R267L|DCX_uc004epe.2_Missense_Mutation_p.R186L|DCX_uc004epf.2_Missense_Mutation_p.R186L|DCX_uc004epg.2_Missense_Mutation_p.R186L	p.R267L	NM_000555	NP_000546	O43602	DCX_HUMAN			3	972	-			267		R -> C (in SBHX).	Doublecortin 2.		A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.800G>T	CCDS14556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.227006|5.227006	0.95173|0.95173	.|.	.|.	ENSG00000077279|ENSG00000077279	ENST00000358070|ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120	.|D;D;D;D;D	.|0.94497	.|-3.44;-3.44;-3.44;-3.44;-3.44	4.74|4.74	4.74|4.74	0.60224|0.60224	.|Doublecortin domain (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97390|0.97390	0.9146|0.9146	M|M	0.87180|0.87180	2.865|2.865	0.80722|0.80722	D|D	1|1	.|D;P	.|0.69078	.|0.997;0.913	.|D;P	.|0.68621	.|0.959;0.612	D|D	0.97917|0.97917	1.0312|1.0312	5|10	.|0.56958	.|D	.|0.05	.|.	17.6068|17.6068	0.88040|0.88040	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|255;267	.|B4DM53;O43602	.|.;DCX_HUMAN	S|L	259|186;186;267;186;186	.|ENSP00000349385:R186L;ENSP00000361061:R186L;ENSP00000337697:R267L;ENSP00000348553:R186L;ENSP00000419861:R186L	.|ENSP00000337697:R267L	A|R	-|-	1|2	0|0	DCX|DCX	110531022|110531022	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.066000|6.066000	0.71185|0.71185	2.283000|2.283000	0.76528|0.76528	0.600000|0.600000	0.82982|0.82982	GCA|CGC		PASS	0.537	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		71	62	71	62	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135430658	135430659	+	Missense_Mutation	DNP	GG	GG	TA	rs149903703		TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chrX:135430658_135430659GG>TA	ENST00000394143.1	+	6	5084_5085	c.4793_4794GG>TA	c.(4792-4794)aGG>aTA	p.R1598I	GPR112_ENST00000412101.1_Missense_Mutation_p.R1393I|GPR112_ENST00000287534.4_Missense_Mutation_p.R1535I|GPR112_ENST00000370652.1_Missense_Mutation_p.R1598I|GPR112_ENST00000394141.1_Missense_Mutation_p.R1393I	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1598					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.R1598R(1)|p.R1598I(1)|p.R1598M(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTTACCCCCAGGACTACTATGA	0.411																																						uc004ezu.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(4792-4794)AGG>ATG|c.(4792-4794)AGG>AGA		G-protein coupled receptor 112																																				SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135430658G>T|g.chrX:135430659G>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	Exception_encountered	X.37:g.135430658_135430659delinsTA	ENSP00000377699:p.Arg1598Ile					GPR112_uc010nsb.1_Missense_Mutation_p.R1393M|GPR112_uc010nsc.1_Missense_Mutation_p.R1365M|GPR112_uc010nsb.1_Silent_p.R1393R|GPR112_uc010nsc.1_Silent_p.R1365R	p.R1598M|p.R1598R	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	5084|5085	+	Acute lymphoblastic leukemia(192;0.000127)		1598			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation|Silent	SNP	ENST00000394143.1	37	c.4793G>T|c.4794G>A	CCDS35409.1																																																																																				PASS	0.411	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			96|95	127	95	127	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140994850	140994850	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chrX:140994850C>A	ENST00000285879.4	+	4	1946	c.1660C>A	c.(1660-1662)Cag>Aag	p.Q554K	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	554								p.Q554K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GAGCCCTCCTCAGGGGGAGGA	0.567										HNSCC(15;0.026)																												uc004fbt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1660-1662)CAG>AAG		melanoma antigen family C, 1							202.0	216.0	211.0					X																	140994850		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140994850C>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1660C>A	X.37:g.140994850C>A	ENSP00000285879:p.Gln554Lys	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.Q554K	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	1946	+	Acute lymphoblastic leukemia(192;6.56e-05)		554					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.1660C>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	5.475	0.272677	0.10349	.	.	ENSG00000155495	ENST00000285879	T	0.02787	4.16	0.951	-1.9	0.07665	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	0.23120	N	0.99826	B	0.24426	0.103	B	0.23150	0.044	T	0.45659	-0.9246	9	0.87932	D	0	.	2.4166	0.04437	0.0:0.2522:0.2894:0.4585	.	554	O60732	MAGC1_HUMAN	K	554	ENSP00000285879:Q554K	ENSP00000285879:Q554K	Q	+	1	0	MAGEC1	140822516	0.001000	0.12720	0.004000	0.12327	0.004000	0.04260	-1.054000	0.03496	-1.156000	0.02818	-1.148000	0.01847	CAG		PASS	0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		211	245	211	245	---	---	---	---
SPANXN3	139067	broad.mit.edu	37	X	142596756	142596756	+	Missense_Mutation	SNP	C	C	A	rs113043096		TCGA-66-2782-01A-01D-1522-08	TCGA-66-2782-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	640ff507-203c-45aa-8bc1-030ee8639b5d	8b234cc2-4308-4537-ad5b-f6df232ff846	g.chrX:142596756C>A	ENST00000370503.2	-	2	397	c.314G>T	c.(313-315)tGt>tTt	p.C105F	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	105								p.C105F(1)		endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					AGGTCCTTCACATGGGCCTAG	0.468																																						uc004fbw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(313-315)TGT>TTT		SPANX-N3 protein							202.0	159.0	174.0					X																	142596756		2203	4300	6503	SO:0001583	missense	139067							g.chrX:142596756C>A		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.314G>T	X.37:g.142596756C>A	ENSP00000359534:p.Cys105Phe						p.C105F	NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN			2	402	-	Acute lymphoblastic leukemia(192;6.56e-05)		105					Q0ZNK4	Missense_Mutation	SNP	ENST00000370503.2	37	c.314G>T	CCDS35418.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-3.976979	0.00002	.	.	ENSG00000189252	ENST00000370503	T	0.07327	3.2	1.58	-1.52	0.08637	.	.	.	.	.	T	0.05227	0.0139	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.34775	-0.9815	9	0.59425	D	0.04	.	6.6462	0.22936	0.0:0.6191:0.216:0.1649	.	105	Q5MJ09	SPXN3_HUMAN	F	105	ENSP00000359534:C105F	ENSP00000359534:C105F	C	-	2	0	SPANXN3	142424422	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.976000	0.03786	-1.228000	0.02568	-2.551000	0.00177	TGT		PASS	0.468	SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058620.2	NM_001009609		91	100	91	100	---	---	---	---
