#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_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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
KLHL17	339451	broad.mit.edu	37	1	900368	900368	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:900368G>T	ENST00000338591.3	+	12	1833	c.1726G>T	c.(1726-1728)Gac>Tac	p.D576Y	PLEKHN1_ENST00000379410.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379407.3_5'Flank	NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	576	Interaction with F-actin. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein complex scaffold (GO:0032947)	p.D576Y(1)		central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGTGGCCATGGACGGATGGTT	0.647																																						uc001aca.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1726-1728)GAC>TAC		kelch-like 17							72.0	54.0	60.0					1																	900368		2201	4296	6497	SO:0001583	missense	339451				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold	g.chr1:900368G>T	AY423763	CCDS30550.1	1p36	2013-01-30	2013-01-30		ENSG00000187961	ENSG00000187961		"""Kelch-like"", ""BTB/POZ domain containing"""	24023	protein-coding gene	gene with protein product	"""actinfilin"""		"""kelch-like 17 (Drosophila)"""			12063253	Standard	NM_198317		Approved		uc001aca.2	Q6TDP4	OTTHUMG00000040721	ENST00000338591.3:c.1726G>T	1.37:g.900368G>T	ENSP00000343930:p.Asp576Tyr					KLHL17_uc001acc.1_RNA|PLEKHN1_uc001acd.2_5'Flank|PLEKHN1_uc001acf.2_5'Flank|PLEKHN1_uc001ace.2_5'Flank	p.D576Y	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	12	1833	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	576			Interaction with F-actin (By similarity).|Kelch 5.		Q5SV94	Missense_Mutation	SNP	ENST00000338591.3	37	c.1726G>T	CCDS30550.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595309	0.66219	.	.	ENSG00000187961	ENST00000338591;ENST00000455747	D	0.82344	-1.6	5.14	5.14	0.70334	Galactose oxidase, beta-propeller (1);	0.206543	0.49305	D	0.000156	D	0.89125	0.6626	M	0.75884	2.315	0.80722	D	1	D	0.55385	0.971	P	0.55455	0.776	D	0.90194	0.4252	10	0.72032	D	0.01	.	18.7955	0.91993	0.0:0.0:1.0:0.0	.	576	Q6TDP4	KLH17_HUMAN	Y	576;452	ENSP00000343930:D576Y	ENSP00000343930:D576Y	D	+	1	0	KLHL17	890231	1.000000	0.71417	1.000000	0.80357	0.238000	0.25445	6.284000	0.72652	2.686000	0.91538	0.561000	0.74099	GAC		0.647	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097875.3		NM_198317		14	10	1	0	0.000151284	0.001855	0.000160839	14	10		
PRDM16	63976	broad.mit.edu	37	1	3328010	3328010	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:3328010G>A	ENST00000270722.5	+	9	1298	c.1249G>A	c.(1249-1251)Gcc>Acc	p.A417T	PRDM16_ENST00000378391.2_Missense_Mutation_p.A417T|PRDM16_ENST00000442529.2_Missense_Mutation_p.A417T|PRDM16_ENST00000511072.1_Missense_Mutation_p.A418T|PRDM16_ENST00000378398.3_Missense_Mutation_p.A418T|PRDM16_ENST00000514189.1_Missense_Mutation_p.A418T|PRDM16_ENST00000441472.2_Missense_Mutation_p.A417T|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	417					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.A417T(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GCGGATGCACGCCGACTGCCG	0.572			T	EVI1	"""MDS, AML"""																																	uc001akf.2		NaN		Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		MDS|AML		1	Substitution - Missense(1)		urinary_tract(1)	lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(1249-1251)GCC>ACC		PR domain containing 16 isoform 1							65.0	70.0	68.0					1																	3328010		2183	4296	6479	SO:0001583	missense	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3328010G>A	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.1249G>A	1.37:g.3328010G>A	ENSP00000270722:p.Ala417Thr					PRDM16_uc001akc.2_Missense_Mutation_p.A417T|PRDM16_uc001akd.2_Missense_Mutation_p.A417T|PRDM16_uc001ake.2_Missense_Mutation_p.A417T|PRDM16_uc009vlh.2_Missense_Mutation_p.A118T	p.A417T	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	9	1329	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	417					A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.1249G>A	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632259	0.87660	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.05025	3.52;3.55;3.56;3.57;3.55;3.57;3.57;3.51;3.51	5.26	5.26	0.73747	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000111	T	0.04634	0.0126	N	0.00176	-1.92	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.91635	0.996;0.999;0.998;0.95	T	0.66881	-0.5811	10	0.10111	T	0.7	.	18.8495	0.92222	0.0:0.0:1.0:0.0	.	417;417;417;417	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	T	418;418;417;417;417;418;417;233;233;226	ENSP00000426975:A418T;ENSP00000367651:A418T;ENSP00000407968:A417T;ENSP00000405253:A417T;ENSP00000367643:A417T;ENSP00000421400:A418T;ENSP00000270722:A417T;ENSP00000422504:A233T;ENSP00000425796:A226T	ENSP00000270722:A417T	A	+	1	0	PRDM16	3317870	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.727000	0.98787	2.472000	0.83506	0.609000	0.83330	GCC		0.572	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3		NM_022114		9	30	0	0	0	0.004482	0	9	30		
MASP2	10747	broad.mit.edu	37	1	11102931	11102931	+	Splice_Site	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:11102931C>T	ENST00000400897.3	-	6	905		c.e6+1			NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.?(1)		biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		CACTTGCTCACCTGTGCTCGT	0.547																																					GBM(35;611 746 20780 22741 36496)	uc001aru.2		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(2)|pancreas(1)|skin(1)	4						c.e6+1		mannan-binding lectin serine protease 2 isoform							191.0	175.0	180.0					1																	11102931		2203	4300	6503	SO:0001630	splice_region_variant	10747				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	g.chr1:11102931C>T	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"""mannan-binding lectin serine protease 2"", ""mannan-binding lectin serine peptidase 1 pseudogene 1"", ""mannan-binding lectin serine protease 1 pseudogene 1"""	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.889+1G>A	1.37:g.11102931C>T							p.A297_splice	NM_006610	NP_006601	O00187	MASP2_HUMAN	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	6	910	-	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)						A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Splice_Site	SNP	ENST00000400897.3	37	c.889_splice	CCDS123.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354006	0.61293	.	.	ENSG00000009724	ENST00000400897	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8392	0.85964	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MASP2	11025518	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	6.727000	0.74764	2.148000	0.66965	0.461000	0.40582	.		0.547	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1		NM_006610	Intron	25	92	0	0	0	0.00632	0	25	92		
C1orf158	93190	broad.mit.edu	37	1	12819302	12819302	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:12819302C>G	ENST00000288048.5	+	3	501	c.285C>G	c.(283-285)atC>atG	p.I95M	C1orf158_ENST00000376210.3_Missense_Mutation_p.I57M	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	95								p.I95M(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GCTACCTGATCAGCACCTATG	0.567																																						uc001auh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(283-285)ATC>ATG		hypothetical protein LOC93190							208.0	209.0	209.0					1																	12819302		2203	4300	6503	SO:0001583	missense	93190							g.chr1:12819302C>G	BX647383	CCDS147.1	1p36.21	2008-02-05			ENSG00000157330	ENSG00000157330			28567	protein-coding gene	gene with protein product						12477932	Standard	NM_152290		Approved	MGC35194	uc001auh.3	Q8N1D5	OTTHUMG00000001888	ENST00000288048.5:c.285C>G	1.37:g.12819302C>G	ENSP00000288048:p.Ile95Met					C1orf158_uc010obe.1_Missense_Mutation_p.I95M	p.I95M	NM_152290	NP_689503	Q8N1D5	CA158_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	3	501	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	95					Q5VUY4	Missense_Mutation	SNP	ENST00000288048.5	37	c.285C>G	CCDS147.1	.	.	.	.	.	.	.	.	.	.	.	14.55	2.568878	0.45798	.	.	ENSG00000157330	ENST00000288048;ENST00000376210	T;T	0.58210	0.35;0.45	5.17	3.31	0.37934	.	0.072353	0.53938	D	0.000045	T	0.66982	0.2845	M	0.74881	2.28	0.31759	N	0.633598	D;D	0.76494	0.999;0.998	D;D	0.69142	0.961;0.962	T	0.71490	-0.4577	10	0.87932	D	0	-31.1543	8.0754	0.30714	0.0:0.8126:0.0:0.1874	.	95;95	B4DQE0;Q8N1D5	.;CA158_HUMAN	M	95;57	ENSP00000288048:I95M;ENSP00000365383:I57M	ENSP00000288048:I95M	I	+	3	3	C1orf158	12741889	0.999000	0.42202	0.998000	0.56505	0.552000	0.35366	0.535000	0.23114	0.594000	0.29761	-0.136000	0.14681	ATC		0.567	C1orf158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005325.1		NM_152290		54	178	0	0	0	0.01441	0	54	178		
C1orf158	93190	broad.mit.edu	37	1	12820737	12820737	+	Silent	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:12820737C>G	ENST00000288048.5	+	4	654	c.438C>G	c.(436-438)ctC>ctG	p.L146L	C1orf158_ENST00000376210.3_Silent_p.L108L	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	146								p.L146L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ATGAGCAGCTCAAGCAGAGAC	0.527																																						uc001auh.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(436-438)CTC>CTG		hypothetical protein LOC93190							128.0	113.0	118.0					1																	12820737		2203	4300	6503	SO:0001819	synonymous_variant	93190							g.chr1:12820737C>G	BX647383	CCDS147.1	1p36.21	2008-02-05			ENSG00000157330	ENSG00000157330			28567	protein-coding gene	gene with protein product						12477932	Standard	NM_152290		Approved	MGC35194	uc001auh.3	Q8N1D5	OTTHUMG00000001888	ENST00000288048.5:c.438C>G	1.37:g.12820737C>G							p.L146L	NM_152290	NP_689503	Q8N1D5	CA158_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	4	654	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	146					Q5VUY4	Silent	SNP	ENST00000288048.5	37	c.438C>G	CCDS147.1																																																																																				0.527	C1orf158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005325.1		NM_152290		12	57	0	0	0	0.013537	0	12	57		
PRAMEF11	440560	broad.mit.edu	37	1	12887575	12887575	+	Silent	SNP	T	T	A	rs267597975	byFrequency	TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:12887575T>A	ENST00000535591.1	-	3	477	c.282A>T	c.(280-282)ccA>ccT	p.P94P		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	94					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.P94P(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AGTCCTGCACTGGTGTTTTGT	0.498																																						uc001auk.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(280-282)CCA>CCT		PRAME family member 11																																				SO:0001819	synonymous_variant	440560							g.chr1:12887575T>A	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.282A>T	1.37:g.12887575T>A							p.P94P	NM_001146344	NP_001139816	O60813	PRA11_HUMAN			3	478	-			94						Silent	SNP	ENST00000535591.1	37	c.282A>T	CCDS53268.1																																																																																				0.498	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			XM_496341		17	265	0	0	0	0.007413	0	17	265		
CLCNKB	1188	broad.mit.edu	37	1	16372138	16372138	+	Silent	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:16372138G>C	ENST00000375679.4	+	3	297	c.186G>C	c.(184-186)ctG>ctC	p.L62L		NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	62					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)	p.L62L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TCATGGCCCTGGTCAGCTGTG	0.627																																						uc001axw.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(184-186)CTG>CTC		chloride channel Kb isoform 1							196.0	146.0	163.0					1																	16372138		2203	4300	6503	SO:0001819	synonymous_variant	1188				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16372138G>C	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.186G>C	1.37:g.16372138G>C						FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Silent_p.L62L	p.L62L	NM_000085	NP_000076	P51801	CLCKB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	3	266	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	62			Helical; (Potential).		B3KUY3|Q5T5Q7|Q5T5Q8	Silent	SNP	ENST00000375679.4	37	c.186G>C	CCDS168.1																																																																																				0.627	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1		NM_000085		17	43	0	0	0	0.007413	0	17	43		
NBPF1	55672	broad.mit.edu	37	1	16895671	16895671	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:16895671C>T	ENST00000430580.2	-	23	3398	c.2511G>A	c.(2509-2511)tcG>tcA	p.S837S	NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000287968.8_3'UTR|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	837	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TTGAGAGAGTCGAATAACCTT	0.488																																						uc009vos.1		NaN																	0					0						c.(2509-2511)TCG>TCA		hypothetical protein LOC55672							77.0	82.0	80.0					1																	16895671		1856	3872	5728	SO:0001819	synonymous_variant	55672					cytoplasm		g.chr1:16895671C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2511G>A	1.37:g.16895671C>T						NBPF1_uc009vot.1_Silent_p.S295S|NBPF1_uc001ayz.1_Silent_p.S295S|NBPF1_uc010oce.1_Silent_p.S566S	p.S837S	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	23	3399	-			837			NBPF 4.		Q8N4E8|Q9C0H0	Silent	SNP	ENST00000430580.2	37	c.2511G>A																																																																																					0.488	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3		NM_017940		49	302	0	0	0	0.01441	0	49	302		
UBR4	23352	broad.mit.edu	37	1	19491386	19491386	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:19491386G>C	ENST00000375254.3	-	32	4445	c.4418C>G	c.(4417-4419)aCa>aGa	p.T1473R	UBR4_ENST00000375217.2_Missense_Mutation_p.T1473R|UBR4_ENST00000375226.2_Missense_Mutation_p.T1473R|UBR4_ENST00000375267.2_Missense_Mutation_p.T1473R	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1473					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T1473R(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGGGGCGATGTAGTCATGCG	0.552																																						uc001bbi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(4417-4419)ACA>AGA		retinoblastoma-associated factor 600							92.0	91.0	91.0					1																	19491386		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19491386G>C	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.4418C>G	1.37:g.19491386G>C	ENSP00000364403:p.Thr1473Arg					UBR4_uc001bbm.1_Missense_Mutation_p.T684R	p.T1473R	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	32	4422	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1473					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.4418C>G	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714857	0.30413	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.23754	1.9;1.9;1.9;1.89	5.77	5.77	0.91146	.	0.193290	0.46442	D	0.000287	T	0.17534	0.0421	N	0.22421	0.69	0.80722	D	1	B	0.19583	0.037	B	0.17722	0.019	T	0.08785	-1.0705	10	0.14252	T	0.57	.	14.192	0.65644	0.0731:0.0:0.9269:0.0	.	1473	Q5T4S7	UBR4_HUMAN	R	1473;1473;1473;1473;183;689	ENSP00000364403:T1473R;ENSP00000364416:T1473R;ENSP00000364365:T1473R;ENSP00000364374:T1473R	ENSP00000364365:T1473R	T	-	2	0	UBR4	19363973	0.999000	0.42202	0.594000	0.28785	0.996000	0.88848	7.222000	0.78025	2.723000	0.93209	0.655000	0.94253	ACA		0.552	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1		NM_020765		4	73	0	0	0	0.009096	0	4	73		
EPHB2	2048	broad.mit.edu	37	1	23236885	23236885	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:23236885C>G	ENST00000400191.3	+	14	2531	c.2513C>G	c.(2512-2514)gCc>gGc	p.A838G	EPHB2_ENST00000374627.1_Missense_Mutation_p.A833G|EPHB2_ENST00000374632.3_Missense_Mutation_p.A839G|EPHB2_ENST00000374630.3_Missense_Mutation_p.A838G	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	838	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)	p.A838G(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GTAATCAATGCCATTGAGCAG	0.617																																						uc009vqj.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|lung(1)|pancreas(1)	5						c.(2512-2514)GCC>GGC		ephrin receptor EphB2 isoform 1 precursor							100.0	73.0	82.0					1																	23236885		2203	4300	6503	SO:0001583	missense	2048	Hereditary_Prostate_Cancer			axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23236885C>G	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.2513C>G	1.37:g.23236885C>G	ENSP00000383053:p.Ala838Gly					EPHB2_uc001bge.2_Missense_Mutation_p.A839G|EPHB2_uc001bgf.2_Missense_Mutation_p.A838G|EPHB2_uc010odu.1_Missense_Mutation_p.A780G	p.A838G	NM_017449	NP_059145	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	14	2658	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	838			Cytoplasmic (Potential).|Protein kinase.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.2513C>G		.	.	.	.	.	.	.	.	.	.	C	18.13	3.556391	0.65425	.	.	ENSG00000133216	ENST00000374625;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	4.64	4.64	0.57946	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63534	0.2519	L	0.42529	1.33	0.80722	D	1	P;P;B;B	0.45531	0.86;0.525;0.279;0.109	P;B;B;B	0.47891	0.56;0.324;0.324;0.312	T	0.68750	-0.5326	10	0.87932	D	0	.	16.6405	0.85070	0.0:1.0:0.0:0.0	.	780;838;856;839	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	G	780;838;838;839;833	ENSP00000363761:A838G;ENSP00000383053:A838G;ENSP00000363763:A839G;ENSP00000363758:A833G	ENSP00000363755:A780G	A	+	2	0	EPHB2	23109472	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	7.650000	0.83521	2.586000	0.87340	0.555000	0.69702	GCC		0.617	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2		NM_017449		4	57	0	0	0	0.009096	0	4	57		
MYOM3	127294	broad.mit.edu	37	1	24397687	24397687	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:24397687G>C	ENST00000374434.3	-	25	3232	c.3070C>G	c.(3070-3072)Ctt>Gtt	p.L1024V	MYOM3_ENST00000329601.7_Missense_Mutation_p.L1024V|MYOM3_ENST00000330966.7_Missense_Mutation_p.L1025V|RP11-293P20.4_ENST00000429191.1_RNA|RP11-293P20.2_ENST00000439239.2_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1024						M band (GO:0031430)	protein homodimerization activity (GO:0042803)	p.L1024V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCCAGCCAAAGCCGCACCTCC	0.547											OREG0013235	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001bin.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(3070-3072)CTT>GTT		myomesin family, member 3							56.0	57.0	57.0					1																	24397687		1973	4144	6117	SO:0001583	missense	127294							g.chr1:24397687G>C	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.3070C>G	1.37:g.24397687G>C	ENSP00000363557:p.Leu1024Val		OREG0013235	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	771	MYOM3_uc001bim.3_Missense_Mutation_p.L681V|MYOM3_uc001bio.2_Missense_Mutation_p.L1024V	p.L1024V	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	25	3233	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	1024					A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.3070C>G	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574130	0.86542	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.12774	2.65;2.65;2.65	5.54	5.54	0.83059	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.39384	0.1076	M	0.69823	2.125	0.44136	D	0.996924	D;D	0.76494	0.991;0.999	D;D	0.80764	0.954;0.994	T	0.07366	-1.0776	10	0.54805	T	0.06	.	19.0832	0.93190	0.0:0.0:1.0:0.0	.	1024;1024	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	V	1024;1025;1024	ENSP00000363557:L1024V;ENSP00000332670:L1025V;ENSP00000328415:L1024V	ENSP00000328415:L1024V	L	-	1	0	MYOM3	24270274	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.849000	0.62882	2.613000	0.88420	0.462000	0.41574	CTT		0.547	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2		NM_152372		4	20	0	0	0	0.009096	0	4	20		
LDLRAP1	26119	broad.mit.edu	37	1	25891685	25891685	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:25891685G>A	ENST00000374338.4	+	8	888	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	257	AP-2 complex binding.				amyloid precursor protein metabolic process (GO:0042982)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|positive regulation of cholesterol metabolic process (GO:0090205)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of signal transduction (GO:0009967)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein binding (GO:0043393)|transport (GO:0006810)	axon (GO:0030424)|basal plasma membrane (GO:0009925)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|neurofilament (GO:0005883)|recycling endosome (GO:0055037)	AP-2 adaptor complex binding (GO:0035612)|beta-amyloid binding (GO:0001540)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphotyrosine binding (GO:0001784)|receptor signaling complex scaffold activity (GO:0030159)|signaling adaptor activity (GO:0035591)	p.E257K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCCTGGATGAAGCGTTTTC	0.587																																						uc001bkl.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(769-771)GAA>AAA		low density lipoprotein receptor adaptor protein							225.0	202.0	210.0					1																	25891685		2203	4300	6503	SO:0001583	missense	26119				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity	g.chr1:25891685G>A	BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978			18640	protein-coding gene	gene with protein product		605747					Standard	NM_015627		Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.769G>A	1.37:g.25891685G>A	ENSP00000363458:p.Glu257Lys					LDLRAP1_uc009vrw.2_RNA|LDLRAP1_uc009vrx.2_Missense_Mutation_p.E87K	p.E257K	NM_015627	NP_056442	Q5SW96	ARH_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)	8	883	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	257			AP-2 complex binding.|[DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif.		A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	Missense_Mutation	SNP	ENST00000374338.4	37	c.769G>A	CCDS30639.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568678	0.86439	.	.	ENSG00000157978	ENST00000374338	T	0.64260	-0.09	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.77877	0.4196	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71184	0.972;0.972	T	0.78406	-0.2216	10	0.49607	T	0.09	-18.8031	17.5166	0.87776	0.0:0.0:1.0:0.0	.	257;257	B3KR97;Q5SW96	.;ARH_HUMAN	K	257	ENSP00000363458:E257K	ENSP00000363458:E257K	E	+	1	0	LDLRAP1	25764272	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	8.844000	0.92147	2.606000	0.88127	0.462000	0.41574	GAA		0.587	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019350.3		NM_015627		56	55	0	0	0	0.01441	0	56	55		
TMEM234	56063	broad.mit.edu	37	1	32688180	32688180	+	5'Flank	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:32688180G>C	ENST00000344461.3	-	0	0				EIF3I_ENST00000471486.1_3'UTR|TMEM234_ENST00000373593.1_5'Flank|EIF3I_ENST00000373586.1_Missense_Mutation_p.Q15H|TMEM234_ENST00000309777.6_5'Flank|TMEM234_ENST00000545122.1_5'Flank			Q8WY98	TM234_HUMAN	transmembrane protein 234							integral component of membrane (GO:0016021)		p.Q15H(1)		kidney(2)|lung(3)	5						CCATTACGCAGATTAAGTATA	0.597																																						uc001bur.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(43-45)CAG>CAC		eukaryotic translation initiation factor 3,							84.0	85.0	85.0					1																	32688180		2203	4300	6503	SO:0001631	upstream_gene_variant	8668					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr1:32688180G>C	AY358586	CCDS356.2	1p36.11-p34.2	2011-02-14	2011-02-14	2011-02-14	ENSG00000160055	ENSG00000160055			28837	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 91"""	C1orf91		12477932	Standard	XM_005271045		Approved	RP4-622L5, dJ622L5.7, FLJ90779	uc001buq.4	Q8WY98	OTTHUMG00000005742		1.37:g.32688180G>C	Exception_encountered					C1orf91_uc001buo.3_5'Flank|C1orf91_uc001bup.3_5'Flank|C1orf91_uc009vub.1_5'Flank|C1orf91_uc010oha.1_5'Flank|C1orf91_uc001buq.3_5'Flank|EIF3I_uc009vuc.2_Missense_Mutation_p.Q15H|EIF3I_uc001bus.2_5'UTR	p.Q15H	NM_003757	NP_003748	Q13347	EIF3I_HUMAN			3	578	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	15			WD 1.		B2R535|D3DPP7|Q6UWY9|Q8N2H6|Q9BSR2|Q9NU76	Missense_Mutation	SNP	ENST00000344461.3	37	c.45G>C		.	.	.	.	.	.	.	.	.	.	G	21.1	4.090321	0.76756	.	.	ENSG00000084623	ENST00000355082;ENST00000373586	T;T	0.60040	0.22;0.22	4.1	3.15	0.36227	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.057623	0.64402	D	0.000001	T	0.76033	0.3931	M	0.87617	2.895	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.78775	-0.2072	10	0.59425	D	0.04	-37.121	11.2461	0.48998	0.0948:0.0:0.9052:0.0	.	15	Q13347	EIF3I_HUMAN	H	15	ENSP00000347194:Q15H;ENSP00000362688:Q15H	ENSP00000347194:Q15H	Q	+	3	2	EIF3I	32460767	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.871000	0.28023	1.012000	0.39366	0.557000	0.71058	CAG		0.597	TMEM234-009	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000092260.2		NM_019118		22	72	0	0	0	0.00333	0	22	72		
DLGAP3	58512	broad.mit.edu	37	1	35370070	35370070	+	Silent	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:35370070C>G	ENST00000373347.1	-	3	1183	c.915G>C	c.(913-915)tcG>tcC	p.S305S	DLGAP3_ENST00000235180.4_Silent_p.S305S|DLGAP3_ENST00000495979.1_5'Flank			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	305					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)	p.S305S(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CCGACCCGCCCGAGCGCCCCT	0.657																																						uc001byc.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(1)|large_intestine(1)	ovary(3)	3						c.(913-915)TCG>TCC		discs, large (Drosophila) homolog-associated							44.0	47.0	46.0					1																	35370070		2203	4300	6503	SO:0001819	synonymous_variant	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35370070C>G	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.915G>C	1.37:g.35370070C>G							p.S305S	NM_001080418	NP_001073887	O95886	DLGP3_HUMAN			1	915	-		Myeloproliferative disorder(586;0.0393)	305					Q5TDD5|Q9H3X7	Silent	SNP	ENST00000373347.1	37	c.915G>C	CCDS30670.1																																																																																				0.657	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1		NM_021234		25	29	0	0	0	0.00333	0	25	29		
TIE1	7075	broad.mit.edu	37	1	43774766	43774766	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:43774766C>T	ENST00000372476.3	+	8	1231	c.1152C>T	c.(1150-1152)agC>agT	p.S384S	TIE1_ENST00000433781.2_Silent_p.S29S|TIE1_ENST00000441333.2_Intron	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	384	Ig-like C2-type 2.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S384S(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGCGGGGCAGCATAGAGCTAC	0.612																																						uc001ciu.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7						c.(1150-1152)AGC>AGT		tyrosine kinase with immunoglobulin-like and							53.0	54.0	54.0					1																	43774766		2203	4300	6503	SO:0001819	synonymous_variant	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43774766C>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1152C>T	1.37:g.43774766C>T						TIE1_uc010okd.1_Silent_p.S384S|TIE1_uc010oke.1_Silent_p.S339S|TIE1_uc009vwq.2_Silent_p.S340S|TIE1_uc010okf.1_Silent_p.S29S|TIE1_uc010okg.1_Silent_p.S29S|TIE1_uc010okc.1_Intron	p.S384S	NM_005424	NP_005415	P35590	TIE1_HUMAN			8	1231	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	384			Ig-like C2-type 2.|Extracellular (Potential).		B5A949|B5A950	Silent	SNP	ENST00000372476.3	37	c.1152C>T	CCDS482.1																																																																																				0.612	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1		NM_005424		11	21	0	0	0	0.00245	0	11	21		
KIF2C	11004	broad.mit.edu	37	1	45205650	45205650	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:45205650G>A	ENST00000372224.4	+	1	159	c.46G>A	c.(46-48)Gct>Act	p.A16T	KIF2C_ENST00000372218.4_Missense_Mutation_p.A16T|KIF2C_ENST00000493027.1_3'UTR	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	16	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|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)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)	p.A16T(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TCCCGGTCTCGCTATCAAGAT	0.567																																						uc001cmg.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(46-48)GCT>ACT		kinesin family member 2C							260.0	265.0	263.0					1																	45205650		2203	4300	6503	SO:0001583	missense	11004				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	g.chr1:45205650G>A	U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.46G>A	1.37:g.45205650G>A	ENSP00000361298:p.Ala16Thr					KIF2C_uc010olb.1_Missense_Mutation_p.A16T	p.A16T	NM_006845	NP_006836	Q99661	KIF2C_HUMAN			1	161	+	Acute lymphoblastic leukemia(166;0.155)		16			Globular (Potential).		B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	37	c.46G>A	CCDS512.1	.	.	.	.	.	.	.	.	.	.	g	13.85	2.359478	0.41801	.	.	ENSG00000142945	ENST00000452259;ENST00000372224;ENST00000372218	T;T;T	0.74421	1.18;-0.84;-0.68	5.47	-8.49	0.00931	.	1.102340	0.06637	N	0.760319	T	0.47173	0.1431	N	0.12182	0.205	0.31764	N	0.633012	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.09400	-1.0676	10	0.22706	T	0.39	.	5.4319	0.16458	0.3879:0.0:0.1579:0.4542	.	16;16	B7Z6Q6;Q99661	.;KIF2C_HUMAN	T	16	ENSP00000410346:A16T;ENSP00000361298:A16T;ENSP00000361292:A16T	ENSP00000361292:A16T	A	+	1	0	KIF2C	44978237	0.016000	0.18221	0.099000	0.21106	0.987000	0.75469	-0.926000	0.03988	-2.055000	0.00899	0.555000	0.69702	GCT		0.567	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1		NM_006845		54	319	0	0	0	0.01441	0	54	319		
EPS15	2060	broad.mit.edu	37	1	51929378	51929378	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:51929378G>A	ENST00000371733.3	-	7	564	c.468C>T	c.(466-468)ctC>ctT	p.L156L	RP11-253A20.1_ENST00000424246.1_RNA|EPS15_ENST00000371730.2_Silent_p.L156L	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	156	EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)|p.L156L(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						ACTTAGAGTTGAGCAACACTG	0.328			T	MLL	ALL																																	uc001csq.1		NaN		Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		2	Whole gene deletion(1)|Substitution - coding silent(1)		urinary_tract(1)|central_nervous_system(1)	lung(1)|kidney(1)	2						c.(466-468)CTC>CTT		epidermal growth factor receptor pathway							68.0	67.0	67.0					1																	51929378		2203	4300	6503	SO:0001819	synonymous_variant	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51929378G>A	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.468C>T	1.37:g.51929378G>A						EPS15_uc009vyz.1_Silent_p.L156L	p.L156L	NM_001981	NP_001972	P42566	EPS15_HUMAN			7	560	-			156			EH 2.		B2R8J7|D3DPJ2|Q5SRH4	Silent	SNP	ENST00000371733.3	37	c.468C>T	CCDS557.1																																																																																				0.328	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1		NM_001981		5	40	0	0	0	0.000602	0	5	40		
EPS15	2060	broad.mit.edu	37	1	51934235	51934235	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:51934235G>C	ENST00000371733.3	-	5	315	c.219C>G	c.(217-219)ttC>ttG	p.F73L	EPS15_ENST00000371730.2_Missense_Mutation_p.F73L	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	73	EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.F73L(1)|p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						AAGCAACAAAGAATTCCTAAG	0.368			T	MLL	ALL																																	uc001csq.1		NaN		Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		2	Substitution - Missense(1)|Whole gene deletion(1)		urinary_tract(1)|central_nervous_system(1)	lung(1)|kidney(1)	2						c.(217-219)TTC>TTG		epidermal growth factor receptor pathway							63.0	60.0	61.0					1																	51934235		2203	4300	6503	SO:0001583	missense	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51934235G>C	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.219C>G	1.37:g.51934235G>C	ENSP00000360798:p.Phe73Leu					EPS15_uc009vyz.1_Missense_Mutation_p.F73L	p.F73L	NM_001981	NP_001972	P42566	EPS15_HUMAN			5	311	-			73			EH 1.		B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	c.219C>G	CCDS557.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544776	0.65198	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000371727	T;T	0.41758	0.99;0.99	4.76	1.83	0.25207	EPS15 homology (EH) (2);EF-hand-like domain (1);	.	.	.	.	T	0.40956	0.1138	M	0.84156	2.68	0.80722	D	1	B;B	0.19073	0.014;0.033	B;B	0.20767	0.028;0.031	T	0.40961	-0.9535	9	0.51188	T	0.08	.	3.2425	0.06786	0.3293:0.2062:0.4644:0.0	.	73;73	B1AUU8;P42566	.;EPS15_HUMAN	L	73	ENSP00000360795:F73L;ENSP00000360798:F73L	ENSP00000360792:F73L	F	-	3	2	EPS15	51706823	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.272000	0.51616	0.698000	0.31739	0.650000	0.86243	TTC		0.368	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1		NM_001981		6	21	0	0	0	0.006214	0	6	21		
GLIS1	148979	broad.mit.edu	37	1	54060429	54060429	+	Silent	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:54060429C>A	ENST00000312233.2	-	3	713	c.147G>T	c.(145-147)ctG>ctT	p.L49L		NM_147193.2	NP_671726.2			GLIS family zinc finger 1									p.L49L(1)|p.L49>?(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GCTGGAGGCCCAGGCCAGAGC	0.711																																						uc001cvr.1		NaN																	2	Complex(1)|Substitution - coding silent(1)		urinary_tract(2)	skin(1)	1						c.(145-147)CTG>CTT		GLIS family zinc finger 1							13.0	17.0	16.0					1																	54060429		2195	4297	6492	SO:0001819	synonymous_variant	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:54060429C>A	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.147G>T	1.37:g.54060429C>A							p.L49L	NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN			3	714	-			49						Silent	SNP	ENST00000312233.2	37	c.147G>T	CCDS582.1																																																																																				0.711	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1		NM_147193		4	18	1	0	0.00909568	0.009096	0.00939809	4	18		
WLS	79971	broad.mit.edu	37	1	68620905	68620905	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:68620905G>A	ENST00000262348.4	-	4	796	c.543C>T	c.(541-543)gtC>gtT	p.V181V	GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000540432.1_Silent_p.V181V|WLS_ENST00000491811.1_5'Flank|WLS_ENST00000354777.2_Silent_p.V179V|WLS_ENST00000370976.3_Silent_p.V90V|GNG12-AS1_ENST00000420587.1_RNA	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	181	Interacts with Wnt proteins. {ECO:0000250}.				anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)	p.V179V(1)|p.V181V(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						TGAAAGGAAGGACATCACATT	0.453																																						uc001def.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(541-543)GTC>GTT		G protein-coupled receptor 177 isoform 1							117.0	110.0	112.0					1																	68620905		2203	4300	6503	SO:0001819	synonymous_variant	79971				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity	g.chr1:68620905G>A	BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.543C>T	1.37:g.68620905G>A						uc001deb.1_Intron|uc001dec.1_Intron|WLS_uc001dee.2_Silent_p.V179V|WLS_uc001deg.1_Silent_p.V90V|WLS_uc009wbf.1_Silent_p.V136V	p.V181V	NM_024911	NP_079187	Q5T9L3	WLS_HUMAN			4	814	-			181			Lumenal (Potential).|Interacts with Wnt proteins (By similarity).		B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Silent	SNP	ENST00000262348.4	37	c.543C>T	CCDS642.1	.	.	.	.	.	.	.	.	.	.	G	9.916	1.210745	0.22289	.	.	ENSG00000116729	ENST00000534713	.	.	.	5.87	-1.47	0.08772	.	.	.	.	.	T	0.25568	0.0622	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27706	-1.0066	4	.	.	.	-39.2002	2.8759	0.05631	0.1235:0.2671:0.3403:0.269	.	.	.	.	F	84	.	.	S	-	2	0	WLS	68393493	0.003000	0.15002	0.995000	0.50966	0.991000	0.79684	-1.293000	0.02770	-0.119000	0.11830	-0.321000	0.08615	TCC		0.453	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025368.1		NM_024911		38	40	0	0	0	0.005524	0	38	40		
TTLL7	79739	broad.mit.edu	37	1	84387005	84387005	+	Silent	SNP	T	T	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:84387005T>G	ENST00000260505.8	-	11	1592	c.1215A>C	c.(1213-1215)tcA>tcC	p.S405S	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	405					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)	p.S405S(1)		kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GCCTTTTAATTGAATTTTGAC	0.413																																						uc001djc.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(1213-1215)TCA>TCC		tubulin tyrosine ligase-like family, member 7							83.0	84.0	84.0					1																	84387005		2203	4299	6502	SO:0001819	synonymous_variant	79739				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	g.chr1:84387005T>G	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.1215A>C	1.37:g.84387005T>G						TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA	p.S405S	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	11	1611	-			405					Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Silent	SNP	ENST00000260505.8	37	c.1215A>C	CCDS690.2																																																																																				0.413	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1		NM_024686		17	63	0	0	0	0.00499	0	17	63		
BRDT	676	broad.mit.edu	37	1	92446894	92446894	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:92446894T>G	ENST00000362005.3	+	12	2238	c.1820T>G	c.(1819-1821)cTg>cGg	p.L607R	BRDT_ENST00000394530.3_Missense_Mutation_p.L561R|BRDT_ENST00000402388.1_Missense_Mutation_p.L607R|BRDT_ENST00000370389.2_Missense_Mutation_p.L534R|BRDT_ENST00000399546.2_Missense_Mutation_p.L607R	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	607					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)	p.L607R(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AAGCGGTTACTGGATGTTAAT	0.343																																						uc001dok.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	stomach(2)|ovary(1)|lung(1)	4						c.(1819-1821)CTG>CGG		testis-specific bromodomain protein							79.0	80.0	80.0					1																	92446894		2203	4300	6503	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92446894T>G	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1820T>G	1.37:g.92446894T>G	ENSP00000354568:p.Leu607Arg					BRDT_uc001dol.3_Missense_Mutation_p.L607R|BRDT_uc010osz.1_Missense_Mutation_p.L611R|BRDT_uc009wdf.2_Missense_Mutation_p.L534R|BRDT_uc010ota.1_Missense_Mutation_p.L561R|BRDT_uc010otb.1_Missense_Mutation_p.L561R|BRDT_uc001dom.3_Missense_Mutation_p.L607R	p.L607R	NM_207189	NP_997072	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	11	2169	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	607			Potential.		A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.1820T>G	CCDS735.1	.	.	.	.	.	.	.	.	.	.	T	8.881	0.951599	0.18431	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000394530;ENST00000402388	T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33	5.62	0.223	0.15292	.	0.160280	0.29438	N	0.012148	T	0.13927	0.0337	L	0.41236	1.265	0.36765	D	0.8835	B;B;P;D	0.62365	0.221;0.221;0.73;0.991	B;B;B;D	0.70016	0.07;0.07;0.093;0.967	T	0.04347	-1.0958	10	0.40728	T	0.16	-0.0413	7.7949	0.29141	0.46:0.0:0.1195:0.4205	.	561;561;611;607	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	R	607;534;607;561;607	ENSP00000354568:L607R;ENSP00000359416:L534R;ENSP00000387822:L607R;ENSP00000378038:L561R;ENSP00000384051:L607R	ENSP00000354568:L607R	L	+	2	0	BRDT	92219482	0.943000	0.32029	0.716000	0.30569	0.048000	0.14542	0.848000	0.27710	-0.146000	0.11274	0.528000	0.53228	CTG		0.343	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2		NM_207189		9	42	0	0	0	0.006214	0	9	42		
AMIGO1	57463	broad.mit.edu	37	1	110050899	110050899	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:110050899G>C	ENST00000369864.4	-	2	985	c.636C>G	c.(634-636)atC>atG	p.I212M	AMIGO1_ENST00000369862.1_Missense_Mutation_p.I212M					adhesion molecule with Ig-like domain 1									p.I212M(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		GCCCATTCTTGATCCAGGCCG	0.532																																						uc001dxx.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(634-636)ATC>ATG		AMIGO protein precursor							93.0	89.0	90.0					1																	110050899		2203	4300	6503	SO:0001583	missense	57463				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane		g.chr1:110050899G>C		CCDS30795.1	1p13.3	2013-01-11			ENSG00000181754	ENSG00000181754		"""Immunoglobulin superfamily / V-set domain containing"""	20824	protein-coding gene	gene with protein product	"""amphoterin-induced gene and open reading frame"""	615689				12629050	Standard	NM_020703		Approved	AMIGO, KIAA1163	uc001dxx.4	Q86WK6	OTTHUMG00000011653	ENST00000369864.4:c.636C>G	1.37:g.110050899G>C	ENSP00000358880:p.Ile212Met						p.I212M	NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)	2	1018	-		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	212			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000369864.4	37	c.636C>G	CCDS30795.1	.	.	.	.	.	.	.	.	.	.	G	7.806	0.714642	0.15306	.	.	ENSG00000181754	ENST00000369864;ENST00000369862	T;T	0.02446	4.29;4.29	5.84	4.91	0.64330	.	0.270265	0.29212	N	0.012810	T	0.00967	0.0032	N	0.11255	0.115	0.37705	D	0.924374	B	0.12013	0.005	B	0.10450	0.005	T	0.57236	-0.7846	10	0.39692	T	0.17	-3.2685	14.5593	0.68123	0.0:0.211:0.789:0.0	.	212	Q86WK6	AMGO1_HUMAN	M	212	ENSP00000358880:I212M;ENSP00000358878:I212M	ENSP00000358878:I212M	I	-	3	3	AMIGO1	109852422	0.992000	0.36948	1.000000	0.80357	0.902000	0.53008	0.194000	0.17135	2.763000	0.94921	0.650000	0.86243	ATC		0.532	AMIGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032247.1		NM_020703		52	28	0	0	0	0.01441	0	52	28		
ST7L	54879	broad.mit.edu	37	1	113161719	113161720	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:113161719_113161720CC>AG	ENST00000358039.4	-	1	320_321	c.16_17GG>CT	c.(16-18)GGc>CTc	p.G6L	CAPZA1_ENST00000263168.3_5'Flank|ST7L_ENST00000463235.1_Intron|ST7L_ENST00000369666.1_Missense_Mutation_p.G6L|ST7L_ENST00000543570.1_Missense_Mutation_p.G6L|ST7L_ENST00000490067.1_Missense_Mutation_p.G6L|ST7L_ENST00000369669.1_5'Flank|ST7L_ENST00000538187.1_5'Flank|ST7L_ENST00000360743.4_Missense_Mutation_p.G6L|ST7L_ENST00000369668.2_Missense_Mutation_p.G6L|ST7L_ENST00000544629.1_Missense_Mutation_p.G6L|ST7L_ENST00000343210.7_Missense_Mutation_p.G6L	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	6					negative regulation of cell growth (GO:0030308)	integral component of membrane (GO:0016021)		p.G6V(1)|p.G6L(1)|p.G6R(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCACCCACGCCGCCACGGTCC	0.683																																						uc001ecd.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)		0						c.(16-18)GGC>CTC		suppression of tumorigenicity 7-like isoform 1																																				SO:0001583	missense	54879				negative regulation of cell growth	integral to membrane	binding	g.chr1:113161719_113161720CC>AG	AB081317	CCDS848.1, CCDS849.1, CCDS850.1, CCDS852.1	1p13.1	2008-06-06			ENSG00000007341	ENSG00000007341			18441	protein-coding gene	gene with protein product						12012006	Standard	NM_138729		Approved	FLJ20284, STLR, ST7R, FAM4B	uc001ecd.3	Q8TDW4	OTTHUMG00000011753	ENST00000358039.4:c.16_17delinsAG	1.37:g.113161719_113161720delinsAG	ENSP00000350734:p.Gly6Leu					ST7L_uc001ecc.2_5'Flank|ST7L_uc010owg.1_Missense_Mutation_p.G6L|ST7L_uc010owh.1_Missense_Mutation_p.G6L|ST7L_uc001ece.2_Missense_Mutation_p.G6L|ST7L_uc001ecf.2_Missense_Mutation_p.G6L|ST7L_uc001ecg.2_RNA|ST7L_uc010owi.1_5'Flank|ST7L_uc001ech.2_Missense_Mutation_p.G6L|ST7L_uc001eci.2_Missense_Mutation_p.G6L|ST7L_uc009wgi.1_RNA|ST7L_uc010owj.1_Missense_Mutation_p.G6L|CAPZA1_uc001ecj.1_5'Flank	p.G6L	NM_017744	NP_060214	Q8TDW4	ST7L_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	321_322	-	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	6					A8K4S7|Q49AH6|Q5TEI4|Q5U5K6|Q6N067|Q7Z2Z0|Q7Z3C2|Q8N7P8|Q8TDW1|Q8TDW2|Q8TDW3|Q9NXF3	Missense_Mutation	DNP	ENST00000358039.4	37	c.16_17GG>CT	CCDS848.1																																																																																				0.683	ST7L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032504.3				8	5	0	0	0	0.004672	0	8	5		
MTMR11	10903	broad.mit.edu	37	1	149903256	149903256	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:149903256C>T	ENST00000439741.2	-	13	1436	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	MTMR11_ENST00000369140.3_Missense_Mutation_p.E324K|MTMR11_ENST00000492824.1_Intron|MTMR11_ENST00000406732.3_Intron|MTMR11_ENST00000361405.6_Intron	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	396	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)	p.E324K(1)|p.E396K(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|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)			GTTCGGGCTTCGGGGGCTGAA	0.572																																						uc001etl.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	central_nervous_system(1)	1						c.(1186-1188)GAA>AAA		myotubularin related protein 11 isoform a							70.0	67.0	68.0					1																	149903256		2203	4300	6503	SO:0001583	missense	10903						phosphatase activity	g.chr1:149903256C>T	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.1186G>A	1.37:g.149903256C>T	ENSP00000391668:p.Glu396Lys					MTMR11_uc001etm.1_Missense_Mutation_p.E324K|MTMR11_uc010pbm.1_Intron|MTMR11_uc010pbn.1_Missense_Mutation_p.R222Q	p.E396K	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		13	1437	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		396			Myotubularin phosphatase.		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	ENST00000439741.2	37	c.1186G>A	CCDS53360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.13|18.13	3.554993|3.554993	0.65425|0.65425	.|.	.|.	ENSG00000014914|ENSG00000014914	ENST00000369140;ENST00000439741|ENST00000405710	D;D|.	0.92595|.	-3.07;-3.07|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Myotubularin phosphatase domain (1);|.	0.378254|.	0.30620|.	N|.	0.009231|.	T|T	0.27731|0.27731	0.0682|0.0682	N|N	0.17474|0.17474	0.49|0.49	0.80722|0.80722	D|D	1|1	D;D|B	0.56035|0.22414	0.974;0.958|0.069	B;B|B	0.43680|0.20384	0.301;0.427|0.029	T|T	0.17684|0.17684	-1.0361|-1.0361	10|8	0.72032|0.66056	D|D	0.01|0.02	.|.	10.7313|10.7313	0.46098|0.46098	0.1454:0.7143:0.1403:0.0|0.1454:0.7143:0.1403:0.0	.|.	324;396|222	A4FU01-4;A4FU01|F8W8W0	.;MTMRB_HUMAN|.	K|Q	324;396|222	ENSP00000358136:E324K;ENSP00000391668:E396K|.	ENSP00000358136:E324K|ENSP00000384228:R222Q	E|R	-|-	1|2	0|0	MTMR11|MTMR11	148169880|148169880	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.896000|0.896000	0.52359|0.52359	4.720000|4.720000	0.61944|0.61944	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.572	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_181873		27	55	0	0	0	0.005443	0	27	55		
TCHH	7062	broad.mit.edu	37	1	152081550	152081550	+	Missense_Mutation	SNP	C	C	G	rs368649993		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:152081550C>G	ENST00000368804.1	-	2	4142	c.4143G>C	c.(4141-4143)caG>caC	p.Q1381H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1381	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.Q1381H(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCGCAGCCGCTGTTCCTCCT	0.602																																						uc001ezp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(4141-4143)CAG>CAC		trichohyalin							77.0	79.0	79.0					1																	152081550		1829	4085	5914	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152081550C>G	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4143G>C	1.37:g.152081550C>G	ENSP00000357794:p.Gln1381His					TCHH_uc009wne.1_Missense_Mutation_p.Q1381H	p.Q1381H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4143	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1381			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.4143G>C	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	c	7.491	0.650653	0.14516	.	.	ENSG00000159450	ENST00000368804	T	0.06849	3.25	3.54	0.0225	0.14133	.	.	.	.	.	T	0.01695	0.0054	N	0.19112	0.55	0.09310	N	1	D	0.53462	0.96	B	0.40565	0.333	T	0.44651	-0.9314	9	0.62326	D	0.03	.	6.7327	0.23393	0.0:0.5947:0.0:0.4053	.	1381	Q07283	TRHY_HUMAN	H	1381	ENSP00000357794:Q1381H	ENSP00000357794:Q1381H	Q	-	3	2	TCHH	150348174	0.000000	0.05858	0.005000	0.12908	0.135000	0.20990	-0.721000	0.04963	-0.207000	0.10187	0.313000	0.20887	CAG		0.602	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2		NM_007113		21	242	0	0	0	0.008871	0	21	242		
HRNR	388697	broad.mit.edu	37	1	152193791	152193791	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:152193791G>T	ENST00000368801.2	-	3	389	c.314C>A	c.(313-315)aCt>aAt	p.T105N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	105					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.T105N(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCTGGTGAGTGTCATCTCT	0.413																																						uc001ezt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(313-315)ACT>AAT		hornerin							225.0	173.0	190.0					1																	152193791		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152193791G>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.314C>A	1.37:g.152193791G>T	ENSP00000357791:p.Thr105Asn						p.T105N	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	390	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		105			1.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.314C>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	0.035	-1.309866	0.01342	.	.	ENSG00000197915	ENST00000368801	T	0.01584	4.75	4.96	0.967	0.19674	.	.	.	.	.	T	0.00384	0.0012	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45396	-0.9264	9	0.36615	T	0.2	.	2.1065	0.03692	0.1596:0.5129:0.1551:0.1724	.	105	Q86YZ3	HORN_HUMAN	N	105	ENSP00000357791:T105N	ENSP00000357791:T105N	T	-	2	0	HRNR	150460415	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.280000	0.08468	0.097000	0.17492	-1.983000	0.00453	ACT		0.413	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1		XM_373868		10	124	1	0	7.48243e-07	0.006214	8.32755e-07	10	124		
FLG	2312	broad.mit.edu	37	1	152285219	152285220	+	Missense_Mutation	DNP	GG	GG	CT	rs534493450	byFrequency	TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:152285219_152285220GG>CT	ENST00000368799.1	-	3	2177_2178	c.2142_2143CC>AG	c.(2140-2145)ctCCag>ctAGag	p.Q715E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	715	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.Q715E(2)|p.L714L(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGCTGACTGGAGCTGGTGGC	0.569									Ichthyosis																													uc001ezu.1		NaN																	3	Substitution - Missense(2)|Substitution - coding silent(1)		urinary_tract(3)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(2140-2145)CTCCAG>CTAGAG		filaggrin																																				SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285219_152285220GG>CT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2142_2143delinsCT	1.37:g.152285219_152285220delinsCT	ENSP00000357789:p.Gln715Glu					uc001ezv.2_5'Flank	p.Q715E	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2178_2179	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		715			Filaggrin 4.|Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	DNP	ENST00000368799.1	37	c.2142_2143CC>AG	CCDS30860.1																																																																																				0.569	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		526	360	0	0	0	0.004672	0	526	360		
FLG2	388698	broad.mit.edu	37	1	152327473	152327473	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:152327473C>T	ENST00000388718.5	-	3	2861	c.2789G>A	c.(2788-2790)aGt>aAt	p.S930N	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	930	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S930N(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGATGACTGACTTGAGCCAGA	0.478																																						uc001ezw.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(2788-2790)AGT>AAT		filaggrin family member 2							336.0	306.0	316.0					1																	152327473		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152327473C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2789G>A	1.37:g.152327473C>T	ENSP00000373370:p.Ser930Asn					uc001ezv.2_Intron	p.S930N	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2862	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		930			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.2789G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	2.438	-0.329231	0.05314	.	.	ENSG00000143520	ENST00000388718	T	0.05786	3.39	4.02	1.15	0.20763	.	.	.	.	.	T	0.01695	0.0054	L	0.56769	1.78	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.48258	-0.9051	9	0.14656	T	0.56	.	4.7153	0.12893	0.1733:0.6324:0.0:0.1943	.	930	Q5D862	FILA2_HUMAN	N	930	ENSP00000373370:S930N	ENSP00000373370:S930N	S	-	2	0	FLG2	150594097	0.005000	0.15991	0.000000	0.03702	0.002000	0.02628	0.878000	0.28126	0.067000	0.16545	-0.992000	0.02543	AGT		0.478	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5		NM_001014342		33	473	0	0	0	0.004289	0	33	473		
LCE1C	353133	broad.mit.edu	37	1	152777745	152777745	+	Silent	SNP	A	A	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:152777745A>T	ENST00000607093.1	-	1	209	c.210T>A	c.(208-210)tcT>tcA	p.S70S	LCE1C_ENST00000368768.1_Silent_p.S70S			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	70	Gly-rich.				keratinization (GO:0031424)			p.S70S(1)		NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACCTCCCCCAGAACTGCAGC	0.687																																						uc001fap.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(208-210)TCT>TCA		late cornified envelope 1C							37.0	44.0	42.0					1																	152777745		2203	4300	6503	SO:0001819	synonymous_variant	353133				keratinization			g.chr1:152777745A>T		CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084		"""Late cornified envelopes"""	29464	protein-coding gene	gene with protein product		612605				11698679	Standard	NM_001276331		Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.210T>A	1.37:g.152777745A>T							p.S70S	NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	261	-	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		70			Gly-rich.			Silent	SNP	ENST00000607093.1	37	c.210T>A	CCDS1026.1																																																																																				0.687	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2		NM_178351		12	142	0	0	0	0.013537	0	12	142		
NUP210L	91181	broad.mit.edu	37	1	154018563	154018563	+	Silent	SNP	T	T	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:154018563T>G	ENST00000368559.3	-	27	3749	c.3678A>C	c.(3676-3678)ctA>ctC	p.L1226L	NUP210L_ENST00000271854.3_Silent_p.L1226L|NUP210L_ENST00000368553.1_Silent_p.L159L	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1226					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.L1226L(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GCCTGGGCACTAGATCCAATA	0.383																																						uc001fdw.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(3676-3678)CTA>CTC		nucleoporin 210kDa-like isoform 1							94.0	85.0	88.0					1																	154018563		1867	4103	5970	SO:0001819	synonymous_variant	91181					integral to membrane		g.chr1:154018563T>G	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.3678A>C	1.37:g.154018563T>G						NUP210L_uc009woq.2_Silent_p.L135L|NUP210L_uc010peh.1_Silent_p.L1226L	p.L1226L	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		27	3750	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1226					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	c.3678A>C	CCDS41399.1																																																																																				0.383	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3		NM_207308		4	81	0	0	0	0.009096	0	4	81		
NUP210L	91181	broad.mit.edu	37	1	154130139	154130139	+	5'Flank	SNP	G	G	C	rs1051220		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:154130139G>C	ENST00000368559.3	-	0	0				TPM3_ENST00000328159.4_3'UTR|TPM3_ENST00000330188.9_Silent_p.T241T|TPM3_ENST00000341372.3_Silent_p.T216T|NUP210L_ENST00000271854.3_5'Flank|TPM3_ENST00000341485.5_Silent_p.T225T|TPM3_ENST00000302206.5_Silent_p.T151T|TPM3_ENST00000271850.7_Silent_p.T278T|TPM3_ENST00000368533.3_Silent_p.T241T|TPM3_ENST00000469717.1_5'UTR	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like						Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.T241T(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GGTCAAGCAGGGTCTGGTCCA	0.532																																						uc001fdy.1		NaN								T					NTRK1|ALK		papillary thyroid|ALCL	TPM3/ALK(33)	1	Substitution - coding silent(1)		urinary_tract(1)	haematopoietic_and_lymphoid_tissue(22)|soft_tissue(11)|skin(1)	34						c.(721-723)ACC>ACG		tropomyosin 3 isoform 4							118.0	114.0	115.0					1																	154130139		2203	4300	6503	SO:0001631	upstream_gene_variant	7170				cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding	g.chr1:154130139G>C	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852		1.37:g.154130139G>C	Exception_encountered					TPM3_uc001fdx.1_Silent_p.T226T|TPM3_uc010pei.1_Silent_p.T151T|TPM3_uc001fdz.1_3'UTR|TPM3_uc001fea.1_Silent_p.T241T|TPM3_uc001feb.1_3'UTR|TPM3_uc010pej.1_Silent_p.T174T|TPM3_uc009wor.2_Intron|NUP210L_uc001fdw.2_5'Flank|NUP210L_uc010peh.1_5'Flank	p.T241T	NM_001043351	NP_001036816	P06753	TPM3_HUMAN			8	853	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	c.723C>G	CCDS41399.1																																																																																				0.532	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3		NM_207308		18	217	0	0	0	0.006122	0	18	217		
CHRNB2	1141	broad.mit.edu	37	1	154542804	154542804	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:154542804C>G	ENST00000368476.3	+	4	590	c.326C>G	c.(325-327)tCc>tGc	p.S109C		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	109					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)	p.S109C(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	CGGCTCCCTTCCAAACACATC	0.532																																						uc001ffg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(325-327)TCC>TGC		neuronal nicotinic acetylcholine receptor beta 2	Nicotine(DB00184)						66.0	55.0	59.0					1																	154542804		2203	4300	6503	SO:0001583	missense	1141				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr1:154542804C>G	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.326C>G	1.37:g.154542804C>G	ENSP00000357461:p.Ser109Cys						p.S109C	NM_000748	NP_000739	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		4	590	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		109			Extracellular (Potential).		Q9UEH9	Missense_Mutation	SNP	ENST00000368476.3	37	c.326C>G	CCDS1070.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412860	0.83340	.	.	ENSG00000160716	ENST00000368476	T	0.80738	-1.41	5.25	4.35	0.52113	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.86632	0.5979	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88881	0.3339	10	0.87932	D	0	.	13.6082	0.62061	0.0:0.9249:0.0:0.0751	.	109	P17787	ACHB2_HUMAN	C	109	ENSP00000357461:S109C	ENSP00000357461:S109C	S	+	2	0	CHRNB2	152809428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	1.457000	0.47850	0.563000	0.77884	TCC		0.532	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1		NM_000748		3	23	0	0	0	0.004672	0	3	23		
CHRNB2	1141	broad.mit.edu	37	1	154544007	154544007	+	Missense_Mutation	SNP	C	C	G	rs71628622		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:154544007C>G	ENST00000368476.3	+	5	972	c.708C>G	c.(706-708)ttC>ttG	p.F236L		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	236					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)	p.F236L(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	AGCCGCTCTTCTACACCATCA	0.577																																						uc001ffg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(706-708)TTC>TTG		neuronal nicotinic acetylcholine receptor beta 2	Nicotine(DB00184)						350.0	271.0	298.0					1																	154544007		2203	4300	6503	SO:0001583	missense	1141				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr1:154544007C>G	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.708C>G	1.37:g.154544007C>G	ENSP00000357461:p.Phe236Leu						p.F236L	NM_000748	NP_000739	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	972	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		236			Helical; (Potential).		Q9UEH9	Missense_Mutation	SNP	ENST00000368476.3	37	c.708C>G	CCDS1070.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085324	0.76642	.	.	ENSG00000160716	ENST00000368476	D	0.88741	-2.42	4.1	3.18	0.36537	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.92215	0.7531	M	0.80422	2.495	0.58432	D	0.999999	D	0.71674	0.998	D	0.83275	0.996	D	0.92734	0.6202	10	0.87932	D	0	.	11.4042	0.49887	0.0:0.9091:0.0:0.0909	.	236	P17787	ACHB2_HUMAN	L	236	ENSP00000357461:F236L	ENSP00000357461:F236L	F	+	3	2	CHRNB2	152810631	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.874000	0.56101	0.910000	0.36722	0.467000	0.42956	TTC		0.577	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1		NM_000748		10	130	0	0	0	0.013537	0	10	130		
CHRNB2	1141	broad.mit.edu	37	1	154544202	154544202	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:154544202C>T	ENST00000368476.3	+	5	1167	c.903C>T	c.(901-903)ctC>ctT	p.L301L		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	301					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)	p.L301L(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	GCAAGTACCTCATGTTCACCA	0.627																																						uc001ffg.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(901-903)CTC>CTT		neuronal nicotinic acetylcholine receptor beta 2	Nicotine(DB00184)						165.0	123.0	137.0					1																	154544202		2203	4300	6503	SO:0001819	synonymous_variant	1141				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr1:154544202C>T	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.903C>T	1.37:g.154544202C>T							p.L301L	NM_000748	NP_000739	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	1167	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		301			Helical; (Potential).		Q9UEH9	Silent	SNP	ENST00000368476.3	37	c.903C>T	CCDS1070.1																																																																																				0.627	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1		NM_000748		8	102	0	0	0	0.00308	0	8	102		
GBA	2629	broad.mit.edu	37	1	155207267	155207267	+	Silent	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:155207267C>A	ENST00000327247.5	-	8	1096	c.864G>T	c.(862-864)ctG>ctT	p.L288L	GBA_ENST00000427500.3_Silent_p.L239L|GBA_ENST00000493842.1_5'Flank|GBA_ENST00000428024.3_Silent_p.L201L|GBA_ENST00000536770.1_Silent_p.L175L|AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000368373.3_Silent_p.L288L	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	288					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)	p.L288L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	GGGTGAAGCCCAGGCACTGGA	0.547									Gaucher disease type I																													uc001fjh.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(862-864)CTG>CTT		glucocerebrosidase precursor	Alglucerase(DB00088)|Imiglucerase(DB00053)						69.0	56.0	60.0					1																	155207267		2203	4296	6499	SO:0001819	synonymous_variant	2629	Gaucher_disease_type_I	Familial Cancer Database	glucocerebrosidase insufficiency	carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding	g.chr1:155207267C>A	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"""glucosylceramidase"", ""glucosidase, beta; acid (includes glucosylceramidase)"""	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.864G>T	1.37:g.155207267C>A						RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Silent_p.L175L|GBA_uc010pfx.1_Silent_p.L239L|GBA_uc001fji.2_Silent_p.L288L|GBA_uc001fjj.2_Silent_p.L288L|GBA_uc001fjk.2_Silent_p.L288L|GBA_uc001fjl.2_Silent_p.L288L|GBA_uc010pfy.1_Silent_p.L201L|GBA_uc009wqk.1_Silent_p.L201L	p.L288L	NM_000157	NP_000148	P04062	GLCM_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		7	1014	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		288					A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Silent	SNP	ENST00000327247.5	37	c.864G>T	CCDS1102.1																																																																																				0.547	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1		NM_000157		34	23	1	0	1.60099e-16	0.004878	1.92499e-16	34	23		
GBA	2629	broad.mit.edu	37	1	155209446	155209446	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:155209446C>A	ENST00000327247.5	-	5	647	c.415G>T	c.(415-417)Gcc>Tcc	p.A139S	GBA_ENST00000427500.3_Intron|GBA_ENST00000493842.1_5'UTR|GBA_ENST00000428024.3_Missense_Mutation_p.A52S|GBA_ENST00000536770.1_Intron|AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000368373.3_Missense_Mutation_p.A139S	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	139					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)	p.A139S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	AAATTTTGGGCAGGGGGTGAC	0.468									Gaucher disease type I																													uc001fjh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(415-417)GCC>TCC		glucocerebrosidase precursor	Alglucerase(DB00088)|Imiglucerase(DB00053)						67.0	67.0	67.0					1																	155209446		2203	4300	6503	SO:0001583	missense	2629	Gaucher_disease_type_I	Familial Cancer Database	glucocerebrosidase insufficiency	carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding	g.chr1:155209446C>A	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"""glucosylceramidase"", ""glucosidase, beta; acid (includes glucosylceramidase)"""	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.415G>T	1.37:g.155209446C>A	ENSP00000314508:p.Ala139Ser					RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Intron|GBA_uc010pfx.1_Intron|GBA_uc001fji.2_Missense_Mutation_p.A139S|GBA_uc001fjj.2_Missense_Mutation_p.A139S|GBA_uc001fjk.2_Missense_Mutation_p.A139S|GBA_uc001fjl.2_Missense_Mutation_p.A139S|GBA_uc010pfy.1_Missense_Mutation_p.A52S|GBA_uc009wqk.1_Missense_Mutation_p.A52S	p.A139S	NM_000157	NP_000148	P04062	GLCM_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		4	565	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		139					A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Missense_Mutation	SNP	ENST00000327247.5	37	c.415G>T	CCDS1102.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020032	0.35606	.	.	ENSG00000177628	ENST00000428024;ENST00000368373;ENST00000327247;ENST00000536555;ENST00000402928	D;D;D	0.99270	-5.66;-3.48;-3.48	3.25	2.32	0.28847	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.525267	0.17564	N	0.169705	D	0.96237	0.8773	L	0.57536	1.79	0.30122	N	0.805608	B	0.23442	0.085	B	0.36534	0.227	D	0.92568	0.6064	10	0.15952	T	0.53	.	6.1185	0.20139	0.0:0.8506:0.0:0.1494	.	139	P04062	GLCM_HUMAN	S	52;139;139;96;124	ENSP00000397986:A52S;ENSP00000357357:A139S;ENSP00000314508:A139S	ENSP00000314508:A139S	A	-	1	0	GBA	153476070	0.109000	0.22037	0.181000	0.23098	0.868000	0.49771	0.594000	0.24014	0.696000	0.31696	0.205000	0.17691	GCC		0.468	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1		NM_000157		16	46	1	0	1.37522e-17	0.007413	1.66344e-17	16	46		
INSRR	3645	broad.mit.edu	37	1	156823630	156823630	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:156823630A>G	ENST00000368195.3	-	2	947	c.551T>C	c.(550-552)cTg>cCg	p.L184P	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	184					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L184P(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGCAGCACCCAGCACACCAGG	0.637																																						uc010pht.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20						c.(550-552)CTG>CCG		insulin receptor-related receptor precursor							84.0	72.0	76.0					1																	156823630		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156823630A>G	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.551T>C	1.37:g.156823630A>G	ENSP00000357178:p.Leu184Pro					NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.L184P	p.L184P	NM_014215	NP_055030	P14616	INSRR_HUMAN			2	805	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		184					O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.551T>C	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.138712	0.56936	.	.	ENSG00000027644	ENST00000368195	D	0.84589	-1.87	5.11	2.64	0.31445	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.36268	N	0.002697	D	0.84092	0.5396	.	.	.	0.58432	D	0.99999	D	0.89917	1.0	D	0.91635	0.999	T	0.81212	-0.1035	9	0.30078	T	0.28	.	4.6936	0.12793	0.7077:0.1926:0.0997:0.0	.	184	P14616	INSRR_HUMAN	P	184	ENSP00000357178:L184P	ENSP00000357178:L184P	L	-	2	0	INSRR	155090254	0.999000	0.42202	0.981000	0.43875	0.928000	0.56348	3.209000	0.51122	0.796000	0.33947	0.455000	0.32223	CTG		0.637	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1		NM_014215		6	57	0	0	0	0.001168	0	6	57		
NTRK1	4914	broad.mit.edu	37	1	156845891	156845892	+	Missense_Mutation	DNP	CC	CC	AT	rs200575096		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:156845891_156845892CC>AT	ENST00000524377.1	+	13	1562_1563	c.1521_1522CC>AT	c.(1519-1524)cgCCgg>cgATgg	p.R508W	NTRK1_ENST00000392302.2_Missense_Mutation_p.R472W|NTRK1_ENST00000358660.3_Missense_Mutation_p.R505W|NTRK1_ENST00000368196.3_Missense_Mutation_p.R502W	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	508					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R507R(1)|p.R471>?(1)|p.R508W(1)|p.R471R(1)|p.R507>?(1)|p.R472W(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	ACATCAAGCGCCGGGACATCGT	0.629			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												uc001fqh.1		NaN		Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	TPM3|TPR|TFG		papillary thyroid		6	Substitution - Missense(2)|Substitution - coding silent(2)|Complex(2)		urinary_tract(6)	lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	GRCh37	CD013192	NTRK1	D		c.(1519-1524)CGCCGG>CGATGG		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)																																			SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156845891_156845892CC>AT	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	Exception_encountered	1.37:g.156845891_156845892delinsAT	ENSP00000431418:p.Arg508Trp	TSP Lung(10;0.080)				NTRK1_uc001fqf.1_Missense_Mutation_p.R472W|NTRK1_uc009wsi.1_Missense_Mutation_p.R207W|NTRK1_uc001fqi.1_Missense_Mutation_p.R502W|NTRK1_uc009wsk.1_Missense_Mutation_p.R505W	p.R508W	NM_002529	NP_002520	P04629	NTRK1_HUMAN			13	1577_1578	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		508			Cytoplasmic (Potential).		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	DNP	ENST00000524377.1	37	c.1521_1522CC>AT	CCDS1161.1																																																																																				0.629	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1		NM_002529		11	116	0	0	0	0.004672	0	11	116		
CD5L	922	broad.mit.edu	37	1	157805906	157805906	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:157805906C>T	ENST00000368174.4	-	3	191	c.95G>A	c.(94-96)cGc>cAc	p.R32H	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	32	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)	p.R32H(3)|p.R32P(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCCTTCACAGCGGTGGAGGCC	0.622																																						uc001frk.3		NaN																	4	Substitution - Missense(4)		urinary_tract(1)|large_intestine(1)|lung(1)|endometrium(1)	ovary(1)	1						c.(94-96)CGC>CAC		CD5 molecule-like precursor							43.0	46.0	45.0					1																	157805906		2203	4300	6503	SO:0001583	missense	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157805906C>T	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.95G>A	1.37:g.157805906C>T	ENSP00000357156:p.Arg32His						p.R32H	NM_005894	NP_005885	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	238	-	all_hematologic(112;0.0378)		32			SRCR 1.		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	c.95G>A	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256784	0.39896	.	.	ENSG00000073754	ENST00000368174	T	0.36340	1.26	4.85	1.9	0.25705	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	0.150671	0.31312	N	0.007862	T	0.11281	0.0275	L	0.43598	1.365	0.26669	N	0.971761	P	0.50819	0.939	B	0.39027	0.288	T	0.10567	-1.0624	10	0.40728	T	0.16	.	7.7613	0.28955	0.0:0.709:0.0:0.291	.	32	O43866	CD5L_HUMAN	H	32	ENSP00000357156:R32H	ENSP00000357156:R32H	R	-	2	0	CD5L	156072530	0.000000	0.05858	0.569000	0.28460	0.331000	0.28603	-0.759000	0.04761	0.221000	0.20879	0.563000	0.77884	CGC		0.622	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1		NM_005894		9	107	0	0	0	0.004482	0	9	107		
OR6Y1	391112	broad.mit.edu	37	1	158517676	158517676	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:158517676G>C	ENST00000302617.3	-	1	219	c.220C>G	c.(220-222)Ctg>Gtg	p.L74V		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L74V(1)		NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CACATCTCCAGGAAGGAGAGG	0.463																																						uc010pil.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(220-222)CTG>GTG		olfactory receptor, family 6, subfamily Y,							91.0	87.0	88.0					1																	158517676		2202	4300	6502	SO:0001583	missense	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158517676G>C	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.220C>G	1.37:g.158517676G>C	ENSP00000304807:p.Leu74Val						p.L74V	NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN			1	220	-	all_hematologic(112;0.0378)		74			Helical; Name=2; (Potential).		Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	37	c.220C>G	CCDS30899.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.444222	0.43429	.	.	ENSG00000197532	ENST00000302617	T	0.14022	2.54	4.91	2.03	0.26663	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33092	N	0.005283	T	0.09335	0.0230	L	0.52364	1.645	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.11397	-1.0589	10	0.13108	T	0.6	.	3.0873	0.06281	0.3457:0.0:0.4681:0.1862	.	74	Q8NGX8	OR6Y1_HUMAN	V	74	ENSP00000304807:L74V	ENSP00000304807:L74V	L	-	1	2	OR6Y1	156784300	0.000000	0.05858	1.000000	0.80357	0.976000	0.68499	-1.087000	0.03383	0.767000	0.33267	0.563000	0.77884	CTG		0.463	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1		NM_001005189		7	88	0	0	0	0.001984	0	7	88		
SPTA1	6708	broad.mit.edu	37	1	158650449	158650449	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:158650449T>C	ENST00000368147.4	-	5	782	c.602A>G	c.(601-603)gAa>gGa	p.E201G		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	201					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.E201G(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTGGAAGTCTTCAAATTTCTT	0.473																																						uc001fst.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(601-603)GAA>GGA		spectrin, alpha, erythrocytic 1							131.0	130.0	131.0					1																	158650449		1900	4120	6020	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158650449T>C	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.602A>G	1.37:g.158650449T>C	ENSP00000357129:p.Glu201Gly						p.E201G	NM_003126	NP_003117	P02549	SPTA1_HUMAN			5	801	-	all_hematologic(112;0.0378)		201			Spectrin 3.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.602A>G	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.794272	0.90453	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.39056	1.1;1.1	5.25	5.25	0.73442	.	0.000000	0.32852	N	0.005572	T	0.61565	0.2357	M	0.86953	2.85	0.50171	D	0.999852	D	0.60160	0.987	D	0.70935	0.971	T	0.69617	-0.5097	10	0.72032	D	0.01	.	14.1502	0.65378	0.0:0.0:0.0:1.0	.	201	P02549	SPTA1_HUMAN	G	201	ENSP00000357130:E201G;ENSP00000357129:E201G	ENSP00000357129:E201G	E	-	2	0	SPTA1	156917073	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.232000	0.78116	2.204000	0.70986	0.528000	0.53228	GAA		0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3		NM_003126		4	141	0	0	0	0.009096	0	4	141		
FCER1A	2205	broad.mit.edu	37	1	159273848	159273848	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:159273848C>T	ENST00000368115.1	+	4	306	c.207C>T	c.(205-207)agC>agT	p.S69S	FCER1A_ENST00000368114.1_Silent_p.S36S	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	69	Ig-like 1.				activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)	p.S69S(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	ACAATGGCAGCCTTTCAGAAG	0.368																																						uc001ftq.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(2)|skin(2)|prostate(1)	5						c.(205-207)AGC>AGT		Fc fragment of IgE, high affinity I, receptor	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						74.0	73.0	73.0					1																	159273848		2203	4300	6503	SO:0001819	synonymous_variant	2205					integral to plasma membrane		g.chr1:159273848C>T	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.207C>T	1.37:g.159273848C>T							p.S69S	NM_002001	NP_001992	P12319	FCERA_HUMAN			4	306	+	all_hematologic(112;0.0429)		69			Extracellular (Potential).|Ig-like 1.			Silent	SNP	ENST00000368115.1	37	c.207C>T	CCDS1184.1																																																																																				0.368	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2		NM_002001		67	37	0	0	0	0.01441	0	67	37		
CFAP45	25790	broad.mit.edu	37	1	159854250	159854250	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:159854250T>A	ENST00000368099.4	-	7	937	c.873A>T	c.(871-873)gaA>gaT	p.E291D	CCDC19_ENST00000426543.2_Missense_Mutation_p.E206D|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2												p.E291D(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CTTGGAGCTGTTCCATATATT	0.522																																						uc001fui.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(871-873)GAA>GAT		nasopharyngeal epithelium specific protein 1							277.0	247.0	257.0					1																	159854250		2203	4300	6503	SO:0001583	missense	25790					mitochondrion|soluble fraction		g.chr1:159854250T>A																												ENST00000368099.4:c.873A>T	1.37:g.159854250T>A	ENSP00000357079:p.Glu291Asp					CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.E206D|CCDC19_uc001ful.2_Missense_Mutation_p.E206D|CCDC19_uc009wtc.1_Missense_Mutation_p.E277D	p.E291D	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		7	891	-	all_hematologic(112;0.0597)		291			Potential.			Missense_Mutation	SNP	ENST00000368099.4	37	c.873A>T	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	T	8.069	0.769905	0.15983	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.11712	2.75;2.75	5.09	-10.2	0.00374	.	0.414475	0.28077	N	0.016700	T	0.01835	0.0058	L	0.38953	1.18	0.21719	N	0.999571	B;B	0.14805	0.011;0.011	B;B	0.20184	0.028;0.028	T	0.27872	-1.0061	9	.	.	.	-8.2485	13.5526	0.61740	0.0:0.5779:0.3072:0.1149	.	291;291	A8K884;Q9UL16	.;CCD19_HUMAN	D	291;206	ENSP00000357079:E291D;ENSP00000403044:E206D	.	E	-	3	2	CCDC19	158120874	0.001000	0.12720	0.079000	0.20413	0.135000	0.20990	-2.275000	0.01162	-2.944000	0.00296	-1.054000	0.02325	GAA		0.522	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1				23	285	0	0	0	0.003954	0	23	285		
IGSF9	57549	broad.mit.edu	37	1	159897153	159897153	+	Silent	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:159897153T>C	ENST00000368094.1	-	21	3719	c.3522A>G	c.(3520-3522)gaA>gaG	p.E1174E	IGSF9_ENST00000361509.3_Silent_p.E1158E|TAGLN2_ENST00000368097.4_5'Flank|IGSF9_ENST00000493195.1_5'UTR|TAGLN2_ENST00000320307.4_5'Flank|TAGLN2_ENST00000478033.1_5'Flank	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1174					dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.E1158E(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGTGGCCTGTTCGGGGTGGG	0.602																																						uc001fur.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)	5						c.(3520-3522)GAA>GAG		immunoglobulin superfamily, member 9 isoform a							53.0	57.0	56.0					1																	159897153		2162	4237	6399	SO:0001819	synonymous_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159897153T>C	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.3522A>G	1.37:g.159897153T>C						IGSF9_uc001fuq.2_Silent_p.E1158E|CCDC19_uc001ful.2_5'Flank|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc001fuo.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Silent_p.E320E	p.E1174E	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		21	3720	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	1174			Cytoplasmic (Potential).			Silent	SNP	ENST00000368094.1	37	c.3522A>G	CCDS44254.1																																																																																				0.602	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1		NM_020789		90	61	0	0	0	0.01441	0	90	61		
SDHC	6391	broad.mit.edu	37	1	161293414	161293414	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:161293414C>T	ENST00000367975.2	+	2	180	c.31C>T	c.(31-33)Cgt>Tgt	p.R11C	SDHC_ENST00000342751.4_Missense_Mutation_p.R11C|SDHC_ENST00000513009.1_Missense_Mutation_p.R11C|SDHC_ENST00000470743.3_3'UTR|SDHC_ENST00000392169.2_Intron|SDHC_ENST00000432287.2_Missense_Mutation_p.R11C	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	11					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)|respiratory chain complex II (GO:0045273)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|succinate dehydrogenase activity (GO:0000104)	p.R11C(2)		urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	ACACGTTGGTCGTCATTGCCT	0.363			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Carney-Stratakis syndrome																													uc001gag.2		NaN	yes	Rec		Familial paraganglioma	1	1q21	6391	Mis|N|F	"""succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa"""			O		paraganglioma|pheochromocytoma			2	Substitution - Missense(2)		urinary_tract(2)		0						c.(31-33)CGT>TGT		succinate dehydrogenase complex, subunit C	Succinic acid(DB00139)						76.0	70.0	72.0					1																	161293414		2203	4300	6503	SO:0001583	missense	6391	Familial_Paragangliomas|Carney-Stratakis_syndrome	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity	g.chr1:161293414C>T	D49737	CCDS1230.1, CCDS41431.1, CCDS41432.1, CCDS44263.1, CCDS60330.1	1q23.3	2014-09-17	2002-08-29		ENSG00000143252	ENSG00000143252		"""Mitochondrial respiratory chain complex / Complex II"""	10682	protein-coding gene	gene with protein product		602413	"""succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD"""	PGL3		9533030, 12658451	Standard	NM_001278172		Approved		uc001gag.3	Q99643	OTTHUMG00000034468	ENST00000367975.2:c.31C>T	1.37:g.161293414C>T	ENSP00000356953:p.Arg11Cys					SDHC_uc001gai.2_Missense_Mutation_p.R11C|SDHC_uc001gaj.2_Intron|SDHC_uc001gak.2_Missense_Mutation_p.R11C|SDHC_uc001gah.2_Missense_Mutation_p.R11C	p.R11C	NM_003001	NP_002992	Q99643	C560_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		2	61	+	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		11					O75609|Q3C259|Q3C2D8|Q3C2H4|Q5VTH3	Missense_Mutation	SNP	ENST00000367975.2	37	c.31C>T	CCDS1230.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.418170	0.42918	.	.	ENSG00000143252	ENST00000367975;ENST00000342751;ENST00000432287;ENST00000513009	D;D;D;D	0.95821	-3.82;-3.82;-3.82;-3.82	5.51	5.51	0.81932	.	0.255159	0.42053	D	0.000772	D	0.97099	0.9052	M	0.70275	2.135	.	.	.	D;D;D;P	0.89917	1.0;1.0;0.998;0.575	D;D;P;B	0.81914	0.947;0.995;0.882;0.057	D	0.97354	0.9965	9	0.62326	D	0.03	.	16.9091	0.86136	0.0:1.0:0.0:0.0	.	11;11;11;11	Q99643-4;Q99643-2;Q99643-3;Q99643	.;.;.;C560_HUMAN	C	11	ENSP00000356953:R11C;ENSP00000356952:R11C;ENSP00000390558:R11C;ENSP00000423260:R11C	ENSP00000356952:R11C	R	+	1	0	SDHC	159560038	1.000000	0.71417	1.000000	0.80357	0.443000	0.32047	4.370000	0.59517	2.595000	0.87683	0.561000	0.74099	CGT		0.363	SDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083316.2		NM_003001		4	66	0	0	0	0.009096	0	4	66		
PAPPA2	60676	broad.mit.edu	37	1	176740114	176740114	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:176740114T>A	ENST00000367662.3	+	17	5677	c.4513T>A	c.(4513-4515)Tgg>Agg	p.W1505R		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1505	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.W1505R(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACTGAGCCCATGGCTGACATG	0.458																																						uc001gkz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(4513-4515)TGG>AGG		pappalysin 2 isoform 1							136.0	126.0	130.0					1																	176740114		2007	4193	6200	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176740114T>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4513T>A	1.37:g.176740114T>A	ENSP00000356634:p.Trp1505Arg					PAPPA2_uc009www.2_RNA	p.W1505R	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			17	5677	+			1505			Sushi 2.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.4513T>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	T	11.75	1.730717	0.30684	.	.	ENSG00000116183	ENST00000367662	T	0.46063	0.88	5.74	5.74	0.90152	Complement control module (2);Sushi/SCR/CCP (2);	0.059895	0.64402	D	0.000001	T	0.39911	0.1096	L	0.57536	1.79	0.80722	D	1	B	0.21520	0.057	B	0.17098	0.017	T	0.21381	-1.0247	10	0.19147	T	0.46	-13.3397	14.8608	0.70379	0.0:0.0:0.0:1.0	.	1505	Q9BXP8	PAPP2_HUMAN	R	1505	ENSP00000356634:W1505R	ENSP00000356634:W1505R	W	+	1	0	PAPPA2	175006737	1.000000	0.71417	0.995000	0.50966	0.968000	0.65278	5.393000	0.66279	2.183000	0.69458	0.533000	0.62120	TGG		0.458	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1				5	73	0	0	0	0.000602	0	5	73		
TOR3A	64222	broad.mit.edu	37	1	179051393	179051393	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:179051393G>A	ENST00000367627.3	+	1	882	c.130G>A	c.(130-132)Ggc>Agc	p.G44S	TOR3A_ENST00000352445.6_Missense_Mutation_p.G44S	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	44					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.G44S(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						GGCCTGGCCGGGCTTCCAGCG	0.726																																						uc001gmd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(130-132)GGC>AGC		torsin family 3, member A precursor							5.0	6.0	6.0					1																	179051393		2002	4031	6033	SO:0001583	missense	64222				chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding	g.chr1:179051393G>A	BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"""ATP-dependant interferon responsive"""	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.130G>A	1.37:g.179051393G>A	ENSP00000356599:p.Gly44Ser					TOR3A_uc010pnd.1_5'UTR	p.G44S	NM_022371	NP_071766	Q9H497	TOR3A_HUMAN			1	282	+			44					B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	c.130G>A	CCDS1329.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.746278	0.69418	.	.	ENSG00000186283	ENST00000367627;ENST00000367625;ENST00000352445	T;T;T	0.40756	1.04;1.02;1.33	5.07	0.93	0.19454	.	1.012140	0.07918	N	0.975320	T	0.16642	0.0400	N	0.03115	-0.41	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.27468	-1.0073	10	0.16420	T	0.52	-5.1721	2.6232	0.04922	0.1604:0.2607:0.4453:0.1336	.	44	Q9H497	TOR3A_HUMAN	S	44	ENSP00000356599:G44S;ENSP00000356597:G44S;ENSP00000335351:G44S	ENSP00000335351:G44S	G	+	1	0	TOR3A	177318016	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.555000	0.05999	0.147000	0.19030	0.655000	0.94253	GGC		0.726	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1		NM_022371		4	7	0	0	0	0.000602	0	4	7		
CEP350	9857	broad.mit.edu	37	1	180012207	180012207	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:180012207G>T	ENST00000367607.3	+	20	4797	c.4379G>T	c.(4378-4380)aGa>aTa	p.R1460I		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1460					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R1460I(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						GAGTTGACTAGAACTCATATC	0.453																																						uc001gnt.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(4)	4						c.(4378-4380)AGA>ATA		centrosome-associated protein 350							203.0	191.0	195.0					1																	180012207		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180012207G>T	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.4379G>T	1.37:g.180012207G>T	ENSP00000356579:p.Arg1460Ile					CEP350_uc009wxl.2_Missense_Mutation_p.R1459I	p.R1460I	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			20	4762	+			1460					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.4379G>T	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.112949|4.112949	0.77210|0.77210	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000367607|ENST00000418229	T|.	0.62498|.	0.02|.	5.9|5.9	4.99|4.99	0.66335|0.66335	.|.	0.000000|.	0.38381|.	N|.	0.001715|.	T|.	0.53899|.	0.1825|.	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.998|.	D;D|.	0.78314|.	0.991;0.981|.	T|.	0.50440|.	-0.8828|.	9|.	.|.	.|.	.|.	.|.	12.268|12.268	0.54689|0.54689	0.0789:0.0:0.9211:0.0|0.0789:0.0:0.9211:0.0	.|.	1460;1460|.	E7EU22;Q5VT06|.	.;CE350_HUMAN|.	I|Y	1460|68	ENSP00000356579:R1460I|.	.|.	R|X	+|+	2|3	0|2	CEP350|CEP350	178278830|178278830	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.760000|0.760000	0.43138|0.43138	3.796000|3.796000	0.55507|0.55507	1.495000|1.495000	0.48549|0.48549	-0.291000|-0.291000	0.09656|0.09656	AGA|TAG		0.453	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2		NM_014810		10	194	1	0	9.70103e-10	0.008291	1.12298e-09	10	194		
IER5	51278	broad.mit.edu	37	1	181058781	181058781	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:181058781A>C	ENST00000367577.4	+	1	1144	c.743A>C	c.(742-744)cAg>cCg	p.Q248P	RP11-309G3.3_ENST00000606938.1_lincRNA	NM_016545.4	NP_057629.2	Q5VY09	IER5_HUMAN	immediate early response 5	248								p.Q248P(1)		lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	4						AACTTAGAGCAGCCGCCGAGT	0.697																																						uc001got.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(742-744)CAG>CCG		immediate early response 5							23.0	23.0	23.0					1																	181058781		2147	4213	6360	SO:0001583	missense	51278							g.chr1:181058781A>C	BC000128	CCDS1343.1	1q25.3	2008-02-05			ENSG00000162783	ENSG00000162783			5393	protein-coding gene	gene with protein product		607177				10049588, 11102586	Standard	NM_016545		Approved		uc001got.4	Q5VY09	OTTHUMG00000035178	ENST00000367577.4:c.743A>C	1.37:g.181058781A>C	ENSP00000356549:p.Gln248Pro						p.Q248P	NM_016545	NP_057629	Q5VY09	IER5_HUMAN			1	1144	+			248					B2RBV3|Q8WY68|Q9NY49|Q9NZP9	Missense_Mutation	SNP	ENST00000367577.4	37	c.743A>C	CCDS1343.1	.	.	.	.	.	.	.	.	.	.	A	9.762	1.170439	0.21621	.	.	ENSG00000162783	ENST00000367577	T	0.10099	2.91	3.79	3.79	0.43588	.	0.426359	0.20268	U	0.095726	T	0.04815	0.0130	N	0.02539	-0.55	0.24373	N	0.994826	P	0.37176	0.586	B	0.35813	0.211	T	0.28396	-1.0045	10	0.62326	D	0.03	.	11.3713	0.49702	1.0:0.0:0.0:0.0	.	248	Q5VY09	IER5_HUMAN	P	248	ENSP00000356549:Q248P	ENSP00000356549:Q248P	Q	+	2	0	IER5	179325404	0.922000	0.31269	0.949000	0.38748	0.318000	0.28184	0.476000	0.22180	1.347000	0.45714	0.379000	0.24179	CAG		0.697	IER5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085142.1		NM_016545		6	34	0	0	0	0.001168	0	6	34		
DHX9	1660	broad.mit.edu	37	1	182823164	182823164	+	Splice_Site	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:182823164G>A	ENST00000367549.3	+	6	587		c.e6-1			NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9						ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)	p.?(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TGATTCTACAGACTCTAGAAT	0.328																																					Colon(69;210 1162 3697 13559 39565)	uc001gpr.2		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(2)	2						c.e6-1		DEAH (Asp-Glu-Ala-His) box polypeptide 9							98.0	101.0	100.0					1																	182823164		1813	4073	5886	SO:0001630	splice_region_variant	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182823164G>A	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.478-1G>A	1.37:g.182823164G>A						DHX9_uc001gps.2_Splice_Site	p.T160_splice	NM_001357	NP_001348	Q08211	DHX9_HUMAN			6	641	+								B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Splice_Site	SNP	ENST00000367549.3	37	c.478_splice	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068673	0.55539	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	.	.	.	5.34	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.167	0.54135	0.0833:0.0:0.9167:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHX9	181089787	1.000000	0.71417	0.999000	0.59377	0.868000	0.49771	9.156000	0.94705	2.502000	0.84385	0.655000	0.94253	.		0.328	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2		NM_030588	Intron	5	144	0	0	0	0.001168	0	5	144		
HMCN1	83872	broad.mit.edu	37	1	186062301	186062301	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:186062301G>C	ENST00000271588.4	+	65	10152	c.9923G>C	c.(9922-9924)gGa>gCa	p.G3308A	HMCN1_ENST00000367492.2_Missense_Mutation_p.G3308A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3308	Ig-like C2-type 31.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.G3308A(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AACATTTATGGAGCTCTTACA	0.383																																						uc001grq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(22)|skin(1)	23						c.(9922-9924)GGA>GCA		hemicentin 1 precursor							119.0	117.0	118.0					1																	186062301		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186062301G>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9923G>C	1.37:g.186062301G>C	ENSP00000271588:p.Gly3308Ala						p.G3308A	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			65	10152	+			3308			Ig-like C2-type 31.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.9923G>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369310	0.24771	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.72167	-0.63;-0.63	5.27	4.36	0.52297	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.488453	0.24525	N	0.037771	T	0.48390	0.1497	N	0.10629	0.01	0.23277	N	0.997991	B	0.28439	0.212	B	0.34093	0.175	T	0.37056	-0.9722	10	0.09084	T	0.74	.	10.3551	0.43958	0.1511:0.0:0.8489:0.0	.	3308	Q96RW7	HMCN1_HUMAN	A	3308	ENSP00000271588:G3308A;ENSP00000356462:G3308A	ENSP00000271588:G3308A	G	+	2	0	HMCN1	184328924	0.996000	0.38824	0.105000	0.21289	0.445000	0.32107	2.676000	0.46883	1.195000	0.43115	0.585000	0.79938	GGA		0.383	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935		4	125	0	0	0	0.009096	0	4	125		
RGS18	64407	broad.mit.edu	37	1	192127861	192127861	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:192127861G>A	ENST00000367460.3	+	1	275	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	32					G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.E32K(1)		kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGAAAAGAAGAAACAAGCAA	0.289																																						uc001gsg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(94-96)GAA>AAA		regulator of G-protein signalling 18							48.0	52.0	51.0					1																	192127861		2202	4287	6489	SO:0001583	missense	64407				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192127861G>A	AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"""Regulators of G-protein signaling"""	14261	protein-coding gene	gene with protein product		607192	"""regulator of G-protein signalling 18"""			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.94G>A	1.37:g.192127861G>A	ENSP00000356430:p.Glu32Lys						p.E32K	NM_130782	NP_570138	Q9NS28	RGS18_HUMAN			1	270	+			32					B2RD23	Missense_Mutation	SNP	ENST00000367460.3	37	c.94G>A	CCDS1374.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266176	0.59540	.	.	ENSG00000150681	ENST00000367460	T	0.49432	0.78	6.06	6.06	0.98353	.	0.713900	0.14912	N	0.291191	T	0.42359	0.1199	L	0.54323	1.7	0.43517	D	0.995785	B	0.32245	0.361	B	0.28139	0.086	T	0.32824	-0.9892	10	0.06891	T	0.86	.	17.359	0.87345	0.0:0.0:1.0:0.0	.	32	Q9NS28	RGS18_HUMAN	K	32	ENSP00000356430:E32K	ENSP00000356430:E32K	E	+	1	0	RGS18	190394484	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.029000	0.57253	2.880000	0.98712	0.650000	0.86243	GAA		0.289	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1		NM_130782		3	53	0	0	0	0.009096	0	3	53		
ASPM	259266	broad.mit.edu	37	1	197073873	197073873	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:197073873G>A	ENST00000367409.4	-	18	4764	c.4508C>T	c.(4507-4509)gCc>gTc	p.A1503V	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1503					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.A1503V(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TAACTTTTGGGCTTGAAAGCA	0.323																																						uc001gtu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|central_nervous_system(2)	6						c.(4507-4509)GCC>GTC		asp (abnormal spindle)-like, microcephaly							93.0	89.0	91.0					1																	197073873		2202	4299	6501	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197073873G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.4508C>T	1.37:g.197073873G>A	ENSP00000356379:p.Ala1503Val					ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	p.A1503V	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	4765	-			1503					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.4508C>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771041	0.49680	.	.	ENSG00000066279	ENST00000367409	T	0.73681	-0.77	5.51	4.6	0.57074	.	0.234714	0.36932	N	0.002330	D	0.83394	0.5245	M	0.83953	2.67	0.80722	D	1	P	0.45474	0.859	P	0.58620	0.842	D	0.83663	0.0162	10	0.48119	T	0.1	.	9.3549	0.38159	0.0725:0.0:0.7841:0.1435	.	1503	Q8IZT6	ASPM_HUMAN	V	1503	ENSP00000356379:A1503V	ENSP00000356379:A1503V	A	-	2	0	ASPM	195340496	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	1.317000	0.33631	1.476000	0.48215	0.585000	0.79938	GCC		0.323	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1		NM_018136		11	81	0	0	0	0.008291	0	11	81		
PTPRC	5788	broad.mit.edu	37	1	198719627	198719627	+	Missense_Mutation	SNP	T	T	A	rs146768191		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:198719627T>A	ENST00000367376.2	+	29	3244	c.3073T>A	c.(3073-3075)Tgg>Agg	p.W1025R	PTPRC_ENST00000352140.3_Missense_Mutation_p.W977R|PTPRC_ENST00000442510.2_Missense_Mutation_p.W1027R|PTPRC_ENST00000594404.1_Missense_Mutation_p.W864R|PTPRC_ENST00000348564.6_Missense_Mutation_p.W866R	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1025	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.W1025R(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AAAGAGCTACTGGAAACCTGA	0.383																																						uc001gur.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(3073-3075)TGG>AGG		protein tyrosine phosphatase, receptor type, C							114.0	113.0	113.0					1																	198719627		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198719627T>A	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3073T>A	1.37:g.198719627T>A	ENSP00000356346:p.Trp1025Arg					PTPRC_uc001gus.1_Missense_Mutation_p.W977R|PTPRC_uc001gut.1_Missense_Mutation_p.W864R	p.W1025R	NM_002838	NP_002829	P08575	PTPRC_HUMAN			29	3253	+			1025			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.3073T>A		.	.	.	.	.	.	.	.	.	.	T	11.98	1.800251	0.31869	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	D	0.82433	-1.61	5.92	5.92	0.95590	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.44097	D	0.000491	D	0.82412	0.5031	N	0.16903	0.455	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.77239	-0.2661	10	0.06494	T	0.89	.	16.3782	0.83418	0.0:0.0:0.0:1.0	.	866;977;1025	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	R	1027;977;1025;864	ENSP00000193532:W977R	ENSP00000306782:W864R	W	+	1	0	PTPRC	196986250	1.000000	0.71417	1.000000	0.80357	0.439000	0.31926	2.825000	0.48096	2.277000	0.76020	0.528000	0.53228	TGG		0.383	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding					6	74	0	0	0	0.006214	0	6	74		
NR5A2	2494	broad.mit.edu	37	1	200017817	200017817	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:200017817G>A	ENST00000367362.3	+	5	1227	c.981G>A	c.(979-981)caG>caA	p.Q327Q	NR5A2_ENST00000544748.1_Silent_p.Q255Q|NR5A2_ENST00000236914.3_Silent_p.Q281Q	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	327					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q327Q(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CCTATTTGCAGCAAGAGCAGG	0.493																																					Melanoma(179;1138 2773 15678 26136)	uc001gvb.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(1)|ovary(1)	2						c.(979-981)CAG>CAA		nuclear receptor subfamily 5, group A, member 2							127.0	121.0	123.0					1																	200017817		2203	4300	6503	SO:0001819	synonymous_variant	2494				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200017817G>A	U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.981G>A	1.37:g.200017817G>A						NR5A2_uc001gvc.2_Silent_p.Q281Q|NR5A2_uc009wzh.2_Silent_p.Q287Q|NR5A2_uc010pph.1_Silent_p.Q255Q	p.Q327Q	NM_205860	NP_995582	O00482	NR5A2_HUMAN			5	1187	+	Prostate(682;0.19)		327					B4E2P3|O95642|Q147U3	Silent	SNP	ENST00000367362.3	37	c.981G>A	CCDS1401.1	.	.	.	.	.	.	.	.	.	.	G	7.973	0.749523	0.15778	.	.	ENSG00000116833	ENST00000367357	.	.	.	5.33	3.45	0.39498	.	.	.	.	.	T	0.62258	0.2413	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58618	-0.7605	4	.	.	.	.	11.7371	0.51771	0.1432:0.0:0.8568:0.0	.	.	.	.	N	248	.	.	S	+	2	0	NR5A2	198284440	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.926000	0.63433	0.743000	0.32719	0.655000	0.94253	AGC		0.493	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2				15	83	0	0	0	0.003163	0	15	83		
FAM71A	149647	broad.mit.edu	37	1	212798782	212798782	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:212798782C>A	ENST00000294829.3	+	1	994	c.563C>A	c.(562-564)cCa>cAa	p.P188Q	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	188						nucleus (GO:0005634)		p.P188Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TGTGGCATTCCAGCTGAAGAC	0.532																																						uc001hjk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(562-564)CCA>CAA		hypothetical protein LOC149647							94.0	98.0	97.0					1																	212798782		2203	4300	6503	SO:0001583	missense	149647							g.chr1:212798782C>A		CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.563C>A	1.37:g.212798782C>A	ENSP00000294829:p.Pro188Gln					uc010pth.1_RNA	p.P188Q	NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)	1	967	+			188					Q5VTZ1	Missense_Mutation	SNP	ENST00000294829.3	37	c.563C>A	CCDS1507.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.871310	0.33069	.	.	ENSG00000162771	ENST00000294829	T	0.04502	3.61	4.24	4.24	0.50183	.	0.000000	0.46442	D	0.000297	T	0.11922	0.0290	L	0.38175	1.15	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.12016	-1.0564	10	0.30078	T	0.28	-12.3414	12.366	0.55228	0.0:1.0:0.0:0.0	.	188	Q8IYT1	FA71A_HUMAN	Q	188	ENSP00000294829:P188Q	ENSP00000294829:P188Q	P	+	2	0	FAM71A	210865405	0.022000	0.18835	0.021000	0.16686	0.004000	0.04260	1.630000	0.37081	2.363000	0.80096	0.563000	0.77884	CCA		0.532	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1		NM_153606		12	74	1	0	1.08611e-07	0.010729	1.22225e-07	12	74		
DUSP10	11221	broad.mit.edu	37	1	221879668	221879668	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:221879668C>A	ENST00000366899.3	-	3	1190	c.952G>T	c.(952-954)Gag>Tag	p.E318*	DUSP10_ENST00000544095.1_5'UTR|DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000323825.3_5'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	318					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E318*(1)		NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		TCAGCGTTCTCGATGTCAGGG	0.632																																						uc001hmy.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|lung(1)	2						c.(952-954)GAG>TAG		dual specificity phosphatase 10 isoform a							111.0	115.0	114.0					1																	221879668		2203	4300	6503	SO:0001587	stop_gained	11221				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr1:221879668C>A	AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.952G>T	1.37:g.221879668C>A	ENSP00000355866:p.Glu318*					DUSP10_uc001hmx.1_5'UTR|DUSP10_uc001hmz.1_5'UTR	p.E318*	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN		GBM - Glioblastoma multiforme(131;0.0103)	3	1134	-			318					D3DTB4|Q6GSI4|Q9H9Z5	Nonsense_Mutation	SNP	ENST00000366899.3	37	c.952G>T	CCDS1528.1	.	.	.	.	.	.	.	.	.	.	C	40	8.285061	0.98742	.	.	ENSG00000143507	ENST00000366899;ENST00000418487	.	.	.	5.34	5.34	0.76211	.	0.110601	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	19.3865	0.94557	0.0:1.0:0.0:0.0	.	.	.	.	X	318;263	.	ENSP00000355866:E318X	E	-	1	0	DUSP10	219946291	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.776000	0.85560	2.644000	0.89710	0.591000	0.81541	GAG		0.632	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090716.1		NM_007207		6	167	1	0	2.7689e-08	0.001984	3.15998e-08	6	167		
OBSCN	84033	broad.mit.edu	37	1	228471295	228471295	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:228471295G>A	ENST00000422127.1	+	33	8873	c.8829G>A	c.(8827-8829)gcG>gcA	p.A2943A	OBSCN_ENST00000359599.6_Silent_p.A1790A|OBSCN_ENST00000284548.11_Silent_p.A2943A|OBSCN_ENST00000570156.2_Silent_p.A3372A|OBSCN_ENST00000366709.4_Silent_p.A62A|OBSCN_ENST00000366707.4_Silent_p.A62A	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2943	Ig-like 29.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.A3127A(1)|p.A2943A(1)|p.A2997A(1)|p.A3226A(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCACCCCGCGGCCACAGTGA	0.632																																						uc009xez.1		NaN																	4	Substitution - coding silent(4)		urinary_tract(4)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(8827-8829)GCG>GCA		obscurin, cytoskeletal calmodulin and							34.0	40.0	38.0					1																	228471295		2127	4243	6370	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228471295G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.8829G>A	1.37:g.228471295G>A						OBSCN_uc001hsn.2_Silent_p.A2943A|OBSCN_uc001hsp.1_Silent_p.A642A|OBSCN_uc001hsq.1_Silent_p.A199A	p.A2943A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			33	8873	+		Prostate(94;0.0405)	2943			Ig-like 29.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.8829G>A	CCDS58065.1																																																																																				0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_052843		3	37	0	0	0	0.004672	0	3	37		
ITIH5	80760	broad.mit.edu	37	10	7608067	7608068	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr10:7608067_7608068GG>TT	ENST00000256861.6	-	13	2530_2531	c.2452_2453CC>AA	c.(2452-2454)CCc>AAc	p.P818N	ITIH5_ENST00000446830.2_Missense_Mutation_p.P600N|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Missense_Mutation_p.P604N	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	818					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P818>?(1)|p.P818T(1)|p.P818H(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TCGCTGGAAGGGCGCCGGCTTT	0.599																																						uc001ijq.2		NaN																	3	Substitution - Missense(2)|Complex(1)		urinary_tract(3)	ovary(2)|central_nervous_system(2)	4						c.(2452-2454)CCC>AAC		inter-alpha trypsin inhibitor heavy chain																																				SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7608067_7608068GG>TT			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.2452_2453delinsTT	10.37:g.7608067_7608068delinsTT	ENSP00000256861:p.Pro818Asn					ITIH5_uc001ijp.2_Missense_Mutation_p.P604N	p.P818N	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN			13	2531_2532	-			818					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	DNP	ENST00000256861.6	37	c.2452_2453CC>AA																																																																																					0.599	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1		NM_030569		31	65	0	0	0	0.004672	0	31	65		
ARHGAP21	57584	broad.mit.edu	37	10	24908838	24908838	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr10:24908838A>C	ENST00000396432.2	-	9	2472	c.1986T>G	c.(1984-1986)aaT>aaG	p.N662K	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.N449K	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	661					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.N661K(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ATGTCTGCTGATTCAACAGAC	0.478																																						uc001isb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(7)|pancreas(1)	8						c.(1984-1986)AAT>AAG		Rho GTPase activating protein 21							79.0	74.0	76.0					10																	24908838		2203	4300	6503	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24908838A>C	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.1986T>G	10.37:g.24908838A>C	ENSP00000379709:p.Asn662Lys					ARHGAP21_uc010qdb.1_RNA|ARHGAP21_uc009xkl.1_Missense_Mutation_p.N662K|ARHGAP21_uc010qdc.1_Missense_Mutation_p.N497K|ARHGAP21_uc001isc.1_Missense_Mutation_p.N652K	p.N662K	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN			9	2473	-			661					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.1986T>G	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	A	5.209	0.223992	0.09863	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.43294	2.91;3.01;0.95;0.96	5.36	0.417	0.16421	.	0.370482	0.32952	N	0.005448	T	0.34250	0.0891	M	0.65975	2.015	0.21627	N	0.999618	B;B	0.26935	0.089;0.164	B;B	0.29862	0.108;0.034	T	0.33803	-0.9854	10	0.56958	D	0.05	.	1.7407	0.02952	0.4483:0.1324:0.2912:0.1281	.	652;661	F8W9U9;Q5T5U3	.;RHG21_HUMAN	K	662;449;652;662;497	ENSP00000379709:N662K;ENSP00000365604:N449K;ENSP00000365592:N652K;ENSP00000405018:N662K	ENSP00000365604:N449K	N	-	3	2	ARHGAP21	24948844	0.987000	0.35691	0.088000	0.20740	0.101000	0.19017	1.578000	0.36525	-0.107000	0.12088	0.533000	0.62120	AAT		0.478	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4		NM_020824		3	92	0	0	0	0.004672	0	3	92		
MYO3A	53904	broad.mit.edu	37	10	26455034	26455034	+	Missense_Mutation	SNP	G	G	A	rs368350598		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr10:26455034G>A	ENST00000265944.5	+	27	3204	c.3038G>A	c.(3037-3039)cGc>cAc	p.R1013H	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1013	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R1013H(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAGGAGCCCCGCATGAGCCCT	0.448																																						uc001isn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(3037-3039)CGC>CAC		myosin IIIA							159.0	171.0	167.0					10																	26455034		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26455034G>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3038G>A	10.37:g.26455034G>A	ENSP00000265944:p.Arg1013His					MYO3A_uc009xko.1_Missense_Mutation_p.R1013H|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	p.R1013H	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			27	3398	+			1013			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.3038G>A	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	g	12.63	1.996356	0.35226	.	.	ENSG00000095777	ENST00000265944	D	0.87334	-2.24	6.07	4.24	0.50183	Myosin head, motor domain (2);	0.258100	0.45361	D	0.000374	T	0.76758	0.4032	L	0.41492	1.28	0.80722	D	1	P	0.37500	0.597	B	0.20767	0.031	T	0.72130	-0.4383	10	0.18276	T	0.48	.	12.5112	0.56007	0.0:0.8182:0.1185:0.0633	.	1013	Q8NEV4	MYO3A_HUMAN	H	1013	ENSP00000265944:R1013H	ENSP00000265944:R1013H	R	+	2	0	MYO3A	26495040	1.000000	0.71417	0.702000	0.30337	0.166000	0.22503	4.517000	0.60503	0.915000	0.36847	-0.134000	0.14843	CGC		0.448	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1		NM_017433		12	295	0	0	0	0.013537	0	12	295		
WAC	51322	broad.mit.edu	37	10	28824669	28824669	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr10:28824669T>C	ENST00000354911.4	+	3	418	c.257T>C	c.(256-258)gTt>gCt	p.V86A	WAC_ENST00000532233.1_3'UTR|WAC_ENST00000375646.1_Missense_Mutation_p.V41A|WAC-AS1_ENST00000527986.1_RNA|WAC_ENST00000347934.4_Missense_Mutation_p.V86A|WAC_ENST00000375664.4_Missense_Mutation_p.V41A|WAC_ENST00000428935.1_Missense_Mutation_p.V41A	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	86					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)	p.V86A(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						ACTCACAGAGTTAGAGAGAGG	0.393																																						uc001iuf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|ovary(1)	2						c.(256-258)GTT>GCT		WW domain-containing adapter with a coiled-coil							105.0	95.0	98.0					10																	28824669		2203	4300	6503	SO:0001583	missense	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28824669T>C	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.257T>C	10.37:g.28824669T>C	ENSP00000346986:p.Val86Ala					WAC_uc001iud.2_Missense_Mutation_p.V41A|WAC_uc001iue.2_Splice_Site_p.R40_splice|WAC_uc009xlb.2_Missense_Mutation_p.V41A|WAC_uc001iug.2_Missense_Mutation_p.V86A|WAC_uc001iuh.2_Missense_Mutation_p.V41A	p.V86A	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN			3	342	+			86					A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	ENST00000354911.4	37	c.257T>C	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	T	10.96	1.499476	0.26861	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911;ENST00000428935;ENST00000420266;ENST00000424454;ENST00000538000;ENST00000442148;ENST00000448193;ENST00000414108	T;T;T;T;T;T;T	0.41065	1.98;2.0;2.0;1.98;1.54;1.02;1.01	4.97	3.84	0.44239	.	0.122444	0.56097	D	0.000038	T	0.19005	0.0456	N	0.08118	0	0.46044	D	0.998833	B;B;B	0.20988	0.05;0.0;0.03	B;B;B	0.20767	0.031;0.001;0.014	T	0.10200	-1.0640	10	0.05525	T	0.97	-9.3512	10.2812	0.43541	0.0:0.0775:0.0:0.9225	.	41;86;86	Q9BTA9-2;Q9BTA9-5;Q9BTA9	.;.;WAC_HUMAN	A	41;41;86;86;41;41;41;41;41;41;41	ENSP00000364816:V41A;ENSP00000364797:V41A;ENSP00000311106:V86A;ENSP00000346986:V86A;ENSP00000399706:V41A;ENSP00000404758:V41A;ENSP00000415645:V41A	ENSP00000311106:V86A	V	+	2	0	WAC	28864675	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.743000	0.47442	0.746000	0.32786	0.460000	0.39030	GTT		0.393	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1		NM_100264		22	42	0	0	0	0.003954	0	22	42		
DLG5	9231	broad.mit.edu	37	10	79576344	79576344	+	Silent	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr10:79576344G>T	ENST00000372391.2	-	20	3995	c.3990C>A	c.(3988-3990)gtC>gtA	p.V1330V	DLG5_ENST00000372388.2_Silent_p.V990V|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1330					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)	p.V1330V(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ACGCGGGGTTGACAGCGATTC	0.617																																						uc001jzk.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(5)|breast(3)	8						c.(3988-3990)GTC>GTA		discs large homolog 5							202.0	168.0	179.0					10																	79576344		2203	4300	6503	SO:0001819	synonymous_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79576344G>T	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.3990C>A	10.37:g.79576344G>T						DLG5_uc001jzi.2_Silent_p.V85V|DLG5_uc001jzj.2_Silent_p.V745V|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Silent_p.V934V	p.V1330V	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		20	4060	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1330					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	c.3990C>A	CCDS7353.2																																																																																				0.617	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2				5	71	1	0	0.000602214	0.000602	0.000628668	5	71		
MAT1A	4143	broad.mit.edu	37	10	82043718	82043718	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr10:82043718C>T	ENST00000372213.3	-	3	506	c.246G>A	c.(244-246)gtG>gtA	p.V82V		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	82					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)	p.V82V(1)		endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TGTCCCTCACCACCCGCTGGT	0.592																																						uc001kbw.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(244-246)GTG>GTA		methionine adenosyltransferase I, alpha	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						142.0	98.0	113.0					10																	82043718		2203	4300	6503	SO:0001819	synonymous_variant	4143				methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	g.chr10:82043718C>T		CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"""S-adenosylmethionine synthetase"""	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.246G>A	10.37:g.82043718C>T							p.V82V	NM_000429	NP_000420	Q00266	METK1_HUMAN	Colorectal(32;0.229)		3	501	-			82					D3DWD5|Q5QP09	Silent	SNP	ENST00000372213.3	37	c.246G>A	CCDS7365.1																																																																																				0.592	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1		NM_000429		7	29	0	0	0	0.001984	0	7	29		
CRTAC1	55118	broad.mit.edu	37	10	99696115	99696115	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr10:99696115C>G	ENST00000370597.3	-	3	588	c.233G>C	c.(232-234)gGa>gCa	p.G78A	CRTAC1_ENST00000370591.2_Missense_Mutation_p.G78A|CRTAC1_ENST00000298819.4_Missense_Mutation_p.G78A	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	78						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.G78A(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CAGGTTGGGTCCATTGTACCT	0.657																																						uc001kou.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|pancreas(1)	5						c.(232-234)GGA>GCA		cartilage acidic protein 1 precursor							46.0	41.0	43.0					10																	99696115		2203	4300	6503	SO:0001583	missense	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99696115C>G	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.233G>C	10.37:g.99696115C>G	ENSP00000359629:p.Gly78Ala					CRTAC1_uc001kov.2_Missense_Mutation_p.G67A|CRTAC1_uc001kot.1_5'UTR	p.G78A	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	3	589	-		Colorectal(252;0.24)	78			FG-GAP 1; atypical.		B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	c.233G>C	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956104	0.73902	.	.	ENSG00000095713	ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	4.76	4.76	0.60689	.	0.109246	0.64402	D	0.000006	T	0.49949	0.1587	M	0.85630	2.765	0.80722	D	1	D;D	0.71674	0.991;0.998	P;D	0.71870	0.757;0.975	T	0.52586	-0.8556	10	0.28530	T	0.3	-25.9585	17.7666	0.88480	0.0:1.0:0.0:0.0	.	78;78	Q9NQ79-2;Q9NQ79	.;CRAC1_HUMAN	A	78;78;70;78	ENSP00000359629:G78A;ENSP00000298819:G78A;ENSP00000310810:G70A;ENSP00000359623:G78A	ENSP00000298819:G78A	G	-	2	0	CRTAC1	99686105	1.000000	0.71417	0.998000	0.56505	0.763000	0.43281	7.709000	0.84645	2.204000	0.70986	0.313000	0.20887	GGA		0.657	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1		NM_018058		6	19	0	0	0	0.001984	0	6	19		
ADAM12	8038	broad.mit.edu	37	10	127737960	127737960	+	Silent	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr10:127737960G>C	ENST00000368679.4	-	16	2097	c.1788C>G	c.(1786-1788)acC>acG	p.T596T	ADAM12_ENST00000467145.1_5'Flank|ADAM12_ENST00000368676.4_Silent_p.T596T	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	596	Cys-rich.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.T596T(3)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		AAACGGCATTGGTACCAATGA	0.532																																						uc001ljk.2		NaN																	3	Substitution - coding silent(3)		urinary_tract(3)	breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9						c.(1786-1788)ACC>ACG		ADAM metallopeptidase domain 12 isoform 1							96.0	101.0	100.0					10																	127737960		2203	4300	6503	SO:0001819	synonymous_variant	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127737960G>C	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1788C>G	10.37:g.127737960G>C						ADAM12_uc010qul.1_Silent_p.T547T|ADAM12_uc001ljm.2_Silent_p.T596T|ADAM12_uc001ljn.2_Silent_p.T593T|ADAM12_uc001ljl.3_Silent_p.T593T	p.T596T	NM_003474	NP_003465	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	16	2201	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	596			Extracellular (Potential).|Cys-rich.		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Silent	SNP	ENST00000368679.4	37	c.1788C>G	CCDS7653.1																																																																																				0.532	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1				14	82	0	0	0	0.00245	0	14	82		
ADAM12	8038	broad.mit.edu	37	10	128018989	128018989	+	Missense_Mutation	SNP	C	C	T	rs150357794		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr10:128018989C>T	ENST00000368679.4	-	2	487	c.178G>A	c.(178-180)Gac>Aac	p.D60N	ADAM12_ENST00000368676.4_Missense_Mutation_p.D60N	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	60					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.D60N(3)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		ACCTTGGAGTCGAAGCTCTTC	0.473																																						uc001ljk.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9						c.(178-180)GAC>AAC		ADAM metallopeptidase domain 12 isoform 1		C	ASN/ASP,ASN/ASP	2,4404	4.2+/-10.8	0,2,2201	116.0	121.0	119.0		178,178	-7.1	0.0	10	dbSNP_134	119	0,8600		0,0,4300	no	missense,missense	ADAM12	NM_003474.4,NM_021641.3	23,23	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign	60/910,60/739	128018989	2,13004	2203	4300	6503	SO:0001583	missense	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:128018989C>T	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.178G>A	10.37:g.128018989C>T	ENSP00000357668:p.Asp60Asn					ADAM12_uc010qul.1_Missense_Mutation_p.D60N|ADAM12_uc001ljm.2_Missense_Mutation_p.D60N|ADAM12_uc001ljn.2_Missense_Mutation_p.D60N|ADAM12_uc001ljl.3_Missense_Mutation_p.D60N	p.D60N	NM_003474	NP_003465	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	2	591	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	60					O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	c.178G>A	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	C	7.294	0.611672	0.14066	4.54E-4	0.0	ENSG00000148848	ENST00000368679;ENST00000368676;ENST00000448723	T;T;T	0.06371	3.31;3.31;3.31	4.71	-7.14	0.01527	.	2.274820	0.03261	N	0.183202	T	0.03220	0.0094	N	0.17474	0.49	0.09310	N	1	B;B;B;B;B	0.11235	0.004;0.003;0.003;0.003;0.002	B;B;B;B;B	0.08055	0.003;0.002;0.002;0.002;0.003	T	0.40496	-0.9560	10	0.18710	T	0.47	.	3.6246	0.08108	0.0981:0.1441:0.4394:0.3184	.	60;60;60;60;60	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	N	60	ENSP00000357668:D60N;ENSP00000357665:D60N;ENSP00000391268:D60N	ENSP00000357665:D60N	D	-	1	0	ADAM12	128008979	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.104000	0.03326	-1.168000	0.02776	-0.140000	0.14226	GAC		0.473	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1				6	89	0	0	0	0.00308	0	6	89		
SIGIRR	59307	broad.mit.edu	37	11	408113	408113	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:408113G>C	ENST00000431843.2	-	4	606	c.300C>G	c.(298-300)atC>atG	p.I100M	SIGIRR_ENST00000332725.3_Missense_Mutation_p.I100M|SIGIRR_ENST00000382520.2_Missense_Mutation_p.I100M|SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000397632.3_Missense_Mutation_p.I100M|SIGIRR_ENST00000531205.1_Missense_Mutation_p.I100M	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	100	Ig-like C2-type.				acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.I100M(2)		cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGATGTTCTGGATGGAGCAGG	0.587																																						uc001lpd.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|cervix(1)		0						c.(298-300)ATC>ATG		single Ig IL-1R-related molecule							125.0	116.0	119.0					11																	408113		2202	4300	6502	SO:0001583	missense	59307				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity	g.chr11:408113G>C		CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30575	protein-coding gene	gene with protein product	"""single immunoglobulin domain IL1R1 related"""	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.300C>G	11.37:g.408113G>C	ENSP00000403104:p.Ile100Met					SIGIRR_uc001lpf.2_Missense_Mutation_p.I100M|SIGIRR_uc001lpe.1_Missense_Mutation_p.I100M|SIGIRR_uc001lpg.2_Missense_Mutation_p.I100M	p.I100M	NM_001135054	NP_001128526	Q6IA17	SIGIR_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	630	-		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	100			Ig-like C2-type.|Extracellular (Potential).		Q3KQY2|Q6UXI3|Q9H733	Missense_Mutation	SNP	ENST00000431843.2	37	c.300C>G	CCDS31325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	8.648|8.648	0.897525|0.897525	0.17686|0.17686	.|.	.|.	ENSG00000185187|ENSG00000185187	ENST00000431843;ENST00000397632;ENST00000332725;ENST00000531205;ENST00000382520|ENST00000528209	T;T;T;T;T|T	0.70516|0.22134	-0.49;-0.49;-0.49;-0.49;-0.49|1.97	3.0|3.0	3.0|3.0	0.34707|0.34707	Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.463545|.	0.21489|.	N|.	0.073702|.	T|T	0.29783|0.29783	0.0744|0.0744	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	P;P|.	0.51351|.	0.944;0.61|.	P;B|.	0.46479|.	0.518;0.233|.	T|T	0.11817|0.11817	-1.0572|-1.0572	10|7	0.52906|0.87932	T|D	0.07|0	.|.	12.2696|12.2696	0.54697|0.54697	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	100;100|.	C9JFX4;Q6IA17|.	.;SIGIR_HUMAN|.	M|C	100|8	ENSP00000403104:I100M;ENSP00000380756:I100M;ENSP00000333656:I100M;ENSP00000433022:I100M;ENSP00000371960:I100M|ENSP00000435135:S8C	ENSP00000333656:I100M|ENSP00000435135:S8C	I|S	-|-	3|2	3|0	SIGIRR|SIGIRR	398113|398113	0.057000|0.057000	0.20700|0.20700	0.010000|0.010000	0.14722|0.14722	0.123000|0.123000	0.20343|0.20343	1.398000|1.398000	0.34554|0.34554	1.988000|1.988000	0.58038|0.58038	0.305000|0.305000	0.20034|0.20034	ATC|TCC		0.587	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383884.3		NM_021805		24	42	0	0	0	0.004656	0	24	42		
OR56A4	120793	broad.mit.edu	37	11	6023399	6023399	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:6023399A>C	ENST00000330728.4	-	1	1025	c.980T>G	c.(979-981)gTc>gGc	p.V327G		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V327G(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGATGGGGACATCTGGAGG	0.517																																						uc010qzv.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)|skin(1)	2						c.(979-981)GTC>GGC		olfactory receptor, family 56, subfamily A,							94.0	90.0	92.0					11																	6023399		2201	4296	6497	SO:0001583	missense	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6023399A>C	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.980T>G	11.37:g.6023399A>C	ENSP00000328215:p.Val327Gly						p.V327G	NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	980	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	275			Extracellular (Potential).		B9EH17	Missense_Mutation	SNP	ENST00000330728.4	37	c.980T>G	CCDS31404.1	.	.	.	.	.	.	.	.	.	.	A	10.12	1.262222	0.23051	.	.	ENSG00000183389	ENST00000330728	T	0.00123	8.7	3.87	2.69	0.31865	GPCR, rhodopsin-like superfamily (1);	0.526244	0.14008	U	0.347652	T	0.00580	0.0019	M	0.93550	3.43	0.25862	N	0.983813	D	0.54207	0.965	D	0.69142	0.962	T	0.22556	-1.0213	10	0.87932	D	0	.	8.8708	0.35314	0.8328:0.0:0.0:0.1672	.	275	Q8NGH8	O56A4_HUMAN	G	327	ENSP00000328215:V327G	ENSP00000328215:V327G	V	-	2	0	OR56A4	5979975	0.006000	0.16342	0.035000	0.18076	0.249000	0.25844	1.961000	0.40432	0.605000	0.29947	0.533000	0.62120	GTC		0.517	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2		NM_001005179		5	14	0	0	0	0.000602	0	5	14		
OR56B4	196335	broad.mit.edu	37	11	6129720	6129720	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:6129720G>T	ENST00000316529.3	+	1	807	c.712G>T	c.(712-714)Gaa>Taa	p.E238*	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E238*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAACTCAGCAGAAGCAATGTC	0.493																																						uc010qzx.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(712-714)GAA>TAA		olfactory receptor, family 56, subfamily B,							175.0	157.0	163.0					11																	6129720		2201	4296	6497	SO:0001587	stop_gained	196335				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6129720G>T	AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"""GPCR / Class A : Olfactory receptors"""	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.712G>T	11.37:g.6129720G>T	ENSP00000321196:p.Glu238*						p.E238*	NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	712	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	238			Cytoplasmic (Potential).		Q6IFD7	Nonsense_Mutation	SNP	ENST00000316529.3	37	c.712G>T	CCDS31406.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380020	0.42207	.	.	ENSG00000180919	ENST00000316529	.	.	.	4.06	3.15	0.36227	.	0.000000	0.37857	U	0.001904	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	12.3722	0.55261	0.0868:0.0:0.9132:0.0	.	.	.	.	X	238	.	ENSP00000321196:E238X	E	+	1	0	OR56B4	6086296	0.853000	0.29707	0.648000	0.29521	0.004000	0.04260	2.090000	0.41682	0.997000	0.38969	-0.347000	0.07816	GAA		0.493	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384668.1		NM_001005181		23	24	1	0	1.28384e-07	0.012319	1.44075e-07	23	24		
FAM160A2	84067	broad.mit.edu	37	11	6244846	6244846	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:6244846G>A	ENST00000449352.2	-	3	1034	c.771C>T	c.(769-771)ttC>ttT	p.F257F	FAM160A2_ENST00000524416.1_Silent_p.F257F|FAM160A2_ENST00000265978.4_Silent_p.F257F			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	257					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)		p.F257F(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TAACCGGGCAGAAGTAAGAGT	0.597																																						uc001mcl.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(2)	2						c.(769-771)TTC>TTT		hypothetical protein LOC84067 isoform 2							101.0	110.0	107.0					11																	6244846		2201	4296	6497	SO:0001819	synonymous_variant	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6244846G>A		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.771C>T	11.37:g.6244846G>A						FAM160A2_uc001mck.3_Silent_p.F257F|FAM160A2_uc001mcm.2_Silent_p.F257F	p.F257F	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN			3	1130	-			257					Q9C0A4|Q9H0N3|Q9H624	Silent	SNP	ENST00000449352.2	37	c.771C>T	CCDS44530.1																																																																																				0.597	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1		NM_032127		18	86	0	0	0	0.007413	0	18	86		
DCHS1	8642	broad.mit.edu	37	11	6649910	6649910	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:6649910C>T	ENST00000299441.3	-	13	5724	c.5313G>A	c.(5311-5313)atG>atA	p.M1771I	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1771	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.M1771I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGCCCGAAGCATGGTAAGGG	0.577																																						uc001mem.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(5311-5313)ATG>ATA		dachsous 1 precursor							103.0	95.0	97.0					11																	6649910		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6649910C>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.5313G>A	11.37:g.6649910C>T	ENSP00000299441:p.Met1771Ile						p.M1771I	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	13	5723	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1771			Cadherin 17.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.5313G>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	4.982	0.182393	0.09495	.	.	ENSG00000166341	ENST00000299441	T	0.50277	0.75	4.64	-5.52	0.02560	Cadherin (3);Cadherin-like (1);	1.705140	0.03605	N	0.233968	T	0.22513	0.0543	N	0.02345	-0.59	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.26573	-1.0099	10	0.44086	T	0.13	.	10.0427	0.42169	0.0:0.1699:0.1207:0.7094	.	1771	Q96JQ0	PCD16_HUMAN	I	1771	ENSP00000299441:M1771I	ENSP00000299441:M1771I	M	-	3	0	DCHS1	6606486	0.000000	0.05858	0.000000	0.03702	0.247000	0.25773	-2.066000	0.01385	-1.451000	0.01933	-0.471000	0.05019	ATG		0.577	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1		NM_003737		13	20	0	0	0	0.003163	0	13	20		
NAV2	89797	broad.mit.edu	37	11	19970352	19970352	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:19970352C>T	ENST00000396087.3	+	11	2539	c.2440C>T	c.(2440-2442)Cgg>Tgg	p.R814W	NAV2_ENST00000360655.4_Missense_Mutation_p.R727W|NAV2_ENST00000540292.1_Missense_Mutation_p.R745W|NAV2_ENST00000349880.4_Missense_Mutation_p.R791W|NAV2_ENST00000527559.2_Missense_Mutation_p.R743W|NAV2_ENST00000396085.1_Missense_Mutation_p.R791W	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	814					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.R814W(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GTCCAGCCCTCGGCTCCAAGC	0.592																																						uc010rdm.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(4)|ovary(1)|pancreas(1)	6						c.(2440-2442)CGG>TGG		neuron navigator 2 isoform 2							63.0	55.0	57.0					11																	19970352		2199	4293	6492	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:19970352C>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2440C>T	11.37:g.19970352C>T	ENSP00000379396:p.Arg814Trp					NAV2_uc001mpp.2_Missense_Mutation_p.R727W|NAV2_uc001mpr.3_Missense_Mutation_p.R791W	p.R814W	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN			11	2801	+			814					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.2440C>T	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	32	5.134079	0.94517	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41;2.41	5.1	5.1	0.69264	.	0.000000	0.56097	D	0.000030	T	0.43389	0.1245	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.21314	-1.0249	9	.	.	.	.	18.8846	0.92370	0.0:1.0:0.0:0.0	.	791;727	Q8IVL1-3;Q8IVL1-4	.;.	W	727;791;791;814;743;745	ENSP00000353871:R727W;ENSP00000379394:R791W;ENSP00000309577:R791W;ENSP00000379396:R814W;ENSP00000435395:R743W;ENSP00000443489:R745W	.	R	+	1	2	NAV2	19926928	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.740000	0.84986	2.530000	0.85305	0.563000	0.77884	CGG		0.592	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1		NM_145117		4	17	0	0	0	0.009096	0	4	17		
CD5	921	broad.mit.edu	37	11	60885820	60885820	+	Silent	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:60885820T>C	ENST00000347785.3	+	3	434	c.268T>C	c.(268-270)Tta>Cta	p.L90L		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	90	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)	p.L90L(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		TGGGGTGCCCTTAAGCCTTGG	0.582																																						uc009ynk.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(268-270)TTA>CTA		CD5 molecule precursor							183.0	167.0	172.0					11																	60885820		2203	4299	6502	SO:0001819	synonymous_variant	921				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	g.chr11:60885820T>C	X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"""CD molecules"""	1685	protein-coding gene	gene with protein product		153340	"""CD5 antigen (p56-62)"""	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.268T>C	11.37:g.60885820T>C							p.L90L	NM_014207	NP_055022	P06127	CD5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)	3	371	+		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)	90			Extracellular (Potential).|SRCR 1.		A0N0P4|A8K9I3	Silent	SNP	ENST00000347785.3	37	c.268T>C	CCDS8000.1																																																																																				0.582	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2		NM_014207		5	175	0	0	0	0.000602	0	5	175		
AHNAK	79026	broad.mit.edu	37	11	62285078	62285078	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:62285078G>C	ENST00000378024.4	-	5	17085	c.16811C>G	c.(16810-16812)tCt>tGt	p.S5604C	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5604	Gly-rich.				protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.S5604C(1)|p.S5604F(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTTGAGAGCAGAGGAGACTTG	0.537																																						uc001ntl.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(16810-16812)TCT>TGT		AHNAK nucleoprotein isoform 1							126.0	142.0	137.0					11																	62285078		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62285078G>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.16811C>G	11.37:g.62285078G>C	ENSP00000367263:p.Ser5604Cys					AHNAK_uc001ntk.1_Intron	p.S5604C	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	17111	-		Melanoma(852;0.155)	5604			Gly-rich.		A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.16811C>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956924	0.34565	.	.	ENSG00000124942	ENST00000378024	T	0.00792	5.69	4.75	3.83	0.44106	.	0.000000	0.39210	U	0.001433	T	0.02727	0.0082	L	0.56769	1.78	0.21579	N	0.999633	D	0.89917	1.0	D	0.85130	0.997	T	0.32428	-0.9907	10	0.52906	T	0.07	.	8.925	0.35634	0.1727:0.0:0.8273:0.0	.	5604	Q09666	AHNK_HUMAN	C	5604	ENSP00000367263:S5604C	ENSP00000367263:S5604C	S	-	2	0	AHNAK	62041654	0.998000	0.40836	0.980000	0.43619	0.964000	0.63967	4.293000	0.59037	0.981000	0.38548	0.637000	0.83480	TCT		0.537	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1		NM_024060		54	132	0	0	0	0.01441	0	54	132		
PPP6R3	55291	broad.mit.edu	37	11	68370851	68370851	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:68370851G>T	ENST00000393800.2	+	22	2595	c.2341G>T	c.(2341-2343)Gag>Tag	p.E781*	PPP6R3_ENST00000529710.1_Nonsense_Mutation_p.E701*|PPP6R3_ENST00000524904.1_Nonsense_Mutation_p.E775*|PPP6R3_ENST00000393801.3_Nonsense_Mutation_p.E781*|PPP6R3_ENST00000527403.2_Nonsense_Mutation_p.E746*|PPP6R3_ENST00000534534.1_Nonsense_Mutation_p.E549*|PPP6R3_ENST00000524845.1_Nonsense_Mutation_p.E752*|PPP6R3_ENST00000265637.4_Nonsense_Mutation_p.E735*|PPP6R3_ENST00000265636.5_Nonsense_Mutation_p.E701*|PPP6R3_ENST00000393799.2_Nonsense_Mutation_p.E781*	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	781					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.E781*(1)|p.E701*(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGACGGAGAGGAGGATGCAGA	0.542																																						uc001onw.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)		0						c.(2341-2343)GAG>TAG		SAPS domain family, member 3 isoform 6							137.0	104.0	115.0					11																	68370851		2200	4294	6494	SO:0001587	stop_gained	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68370851G>T	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.2341G>T	11.37:g.68370851G>T	ENSP00000377389:p.Glu781*					SAPS3_uc001onv.2_Nonsense_Mutation_p.E781*|SAPS3_uc001ony.3_Nonsense_Mutation_p.E752*|SAPS3_uc001onx.2_Nonsense_Mutation_p.E775*|SAPS3_uc009ysh.2_Nonsense_Mutation_p.E701*|SAPS3_uc001onu.2_Nonsense_Mutation_p.E701*|SAPS3_uc010rqc.1_Nonsense_Mutation_p.E549*|SAPS3_uc010rqd.1_Nonsense_Mutation_p.E464*|SAPS3_uc001onz.2_Nonsense_Mutation_p.E109*|SAPS3_uc001ooa.2_Nonsense_Mutation_p.E231*	p.E781*	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	LUAD - Lung adenocarcinoma(13;0.102)		22	2608	+			781					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Nonsense_Mutation	SNP	ENST00000393800.2	37	c.2341G>T	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	G	41	8.903708	0.98996	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	.	.	.	5.18	4.27	0.50696	.	0.339567	0.30602	N	0.009270	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	13.6097	0.62071	0.0747:0.0:0.9253:0.0	.	.	.	.	X	781;781;549;752;735;775;781;701;701;746;488	.	ENSP00000265636:E701X	E	+	1	0	PPP6R3	68127427	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.837000	0.92110	1.193000	0.43086	0.655000	0.94253	GAG		0.542	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1		NM_018312		24	35	1	0	3.7963e-18	0.00333	4.63356e-18	24	35		
PAAF1	80227	broad.mit.edu	37	11	73620513	73620513	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:73620513G>A	ENST00000310571.3	+	7	655	c.602G>A	c.(601-603)cGa>cAa	p.R201Q	PAAF1_ENST00000544909.1_Missense_Mutation_p.R202Q|PAAF1_ENST00000544552.1_Missense_Mutation_p.R184Q|PAAF1_ENST00000535604.1_Missense_Mutation_p.R86Q|PAAF1_ENST00000536003.1_Missense_Mutation_p.R184Q|PAAF1_ENST00000541951.1_Missense_Mutation_p.R86Q|PAAF1_ENST00000376384.5_Missense_Mutation_p.R184Q	NM_025155.2	NP_079431.1	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	201					viral process (GO:0016032)	proteasome complex (GO:0000502)		p.R201Q(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					GGGACAGCACGACTTTGGGAT	0.517																																						uc001ouk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(601-603)CGA>CAA		proteasomal ATPase-associated factor 1							208.0	178.0	188.0					11																	73620513		2200	4293	6493	SO:0001583	missense	80227				interspecies interaction between organisms	proteasome complex	protein binding	g.chr11:73620513G>A	BC006142	CCDS8226.1, CCDS58157.1, CCDS58158.1	11q13.4	2013-05-21	2007-08-16	2007-08-16	ENSG00000175575	ENSG00000175575		"""WD repeat domain containing"""	25687	protein-coding gene	gene with protein product			"""WD repeat domain 71"""	WDR71		15831487, 17317272, 17289585	Standard	NM_001267803		Approved	FLJ11848, Rpn14	uc001ouk.2	Q9BRP4	OTTHUMG00000168062	ENST00000310571.3:c.602G>A	11.37:g.73620513G>A	ENSP00000311665:p.Arg201Gln					PAAF1_uc001oul.1_Missense_Mutation_p.R184Q|PAAF1_uc009ytx.1_RNA|PAAF1_uc001oum.1_Missense_Mutation_p.R184Q	p.R201Q	NM_025155	NP_079431	Q9BRP4	PAAF1_HUMAN			7	636	+	Breast(11;7.42e-05)		201			WD 3.		A6NDR5|B4DPB0|B7ZAS9|Q4G165|Q53HS9|Q7Z500|Q8TBU6|Q9HAB6	Missense_Mutation	SNP	ENST00000310571.3	37	c.602G>A	CCDS8226.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.980181	0.92982	.	.	ENSG00000175575	ENST00000541951;ENST00000310571;ENST00000504441;ENST00000543814;ENST00000535604;ENST00000542293;ENST00000536003;ENST00000544552;ENST00000546039;ENST00000376384;ENST00000544909	T;T;T;T;T;T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	5.06	5.06	0.68205	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.56097	D	0.000021	D	0.83064	0.5173	M	0.83692	2.655	0.42647	D	0.993433	D;D	0.71674	0.998;0.995	D;P	0.75484	0.986;0.781	D	0.86101	0.1556	10	0.72032	D	0.01	-6.9544	16.9989	0.86376	0.0:0.0:1.0:0.0	.	184;201	Q9BRP4-2;Q9BRP4	.;PAAF1_HUMAN	Q	86;201;184;184;86;86;184;184;65;184;202	ENSP00000441333:R86Q;ENSP00000311665:R201Q;ENSP00000439747:R184Q;ENSP00000438894:R184Q;ENSP00000438789:R86Q;ENSP00000439143:R86Q;ENSP00000438124:R184Q;ENSP00000441494:R184Q;ENSP00000439877:R65Q;ENSP00000365564:R184Q;ENSP00000438071:R202Q	ENSP00000311665:R201Q	R	+	2	0	PAAF1	73298161	0.972000	0.33761	0.949000	0.38748	0.792000	0.44763	6.707000	0.74654	2.373000	0.80994	0.561000	0.74099	CGA		0.517	PAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397885.1		NM_025155		10	65	0	0	0	0.010729	0	10	65		
AMOTL1	154810	broad.mit.edu	37	11	94602363	94602363	+	Splice_Site	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:94602363G>T	ENST00000433060.2	+	12	2630	c.2489G>T	c.(2488-2490)gGa>gTa	p.G830V	AMOTL1_ENST00000317837.9_Splice_Site_p.G417V|AMOTL1_ENST00000317829.8_Splice_Site_p.G780V	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	830					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)	p.G831V(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CTGCCCTCAGGATTGCTGCTG	0.483																																						uc001pfb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(2488-2490)GGA>GTA		angiomotin like 1							26.0	32.0	30.0					11																	94602363		2057	4210	6267	SO:0001630	splice_region_variant	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94602363G>T	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.2489-1G>T	11.37:g.94602363G>T						AMOTL1_uc001pfc.2_Missense_Mutation_p.G780V	p.G830V	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN			12	2659	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	830					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	c.2489G>T	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113779	0.77210	.	.	ENSG00000166025	ENST00000317829;ENST00000317837;ENST00000433060	T;T;T	0.62639	1.84;0.01;1.8	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000001	T	0.78660	0.4318	M	0.68952	2.095	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.77362	-0.2616	9	.	.	.	.	19.3803	0.94530	0.0:0.0:1.0:0.0	.	780;830	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	V	780;417;830	ENSP00000320968:G780V;ENSP00000323474:G417V;ENSP00000387739:G830V	.	G	+	2	0	AMOTL1	94242011	1.000000	0.71417	0.987000	0.45799	0.783000	0.44284	5.941000	0.70195	2.601000	0.87937	0.561000	0.74099	GGA		0.483	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3		NM_130847	Missense_Mutation	3	19	1	0	1.024e-07	0.000602	1.15881e-07	3	19		
MSANTD4	84437	broad.mit.edu	37	11	105880645	105880645	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:105880645G>C	ENST00000301919.4	-	3	2070	c.655C>G	c.(655-657)Ctg>Gtg	p.L219V	MSANTD4_ENST00000529805.1_5'Flank	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	219						nucleus (GO:0005634)		p.L219V(1)									TCGATATCCAGTCGTCGTTTT	0.443																																						uc001piy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(655-657)CTG>GTG		hypothetical protein LOC84437							88.0	89.0	89.0					11																	105880645		2201	4299	6500	SO:0001583	missense	84437					nucleus		g.chr11:105880645G>C	AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"""KIAA1826"""	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.655C>G	11.37:g.105880645G>C	ENSP00000304713:p.Leu219Val					KIAA1826_uc001piz.2_Missense_Mutation_p.L219V	p.L219V	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309)	3	828	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	219			Potential.		Q96JK1|Q96JZ3|Q9H2N4	Missense_Mutation	SNP	ENST00000301919.4	37	c.655C>G	CCDS31663.1	.	.	.	.	.	.	.	.	.	.	G	8.392	0.839921	0.16891	.	.	ENSG00000170903	ENST00000301919	.	.	.	5.78	3.86	0.44501	.	0.000000	0.64402	D	0.000001	T	0.31231	0.0790	L	0.29908	0.895	0.39701	D	0.971181	P	0.41597	0.756	B	0.37422	0.249	T	0.20207	-1.0282	9	0.59425	D	0.04	-14.4048	6.3932	0.21599	0.2025:0.0:0.6676:0.1299	.	219	Q8NCY6	K1826_HUMAN	V	219	.	ENSP00000304713:L219V	L	-	1	2	KIAA1826	105385855	1.000000	0.71417	0.933000	0.37362	0.056000	0.15407	3.212000	0.51145	1.455000	0.47813	0.491000	0.48974	CTG		0.443	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388619.1		NM_032424		4	101	0	0	0	0.009096	0	4	101		
HSPB2	3316	broad.mit.edu	37	11	111784284	111784284	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:111784284G>T	ENST00000304298.3	+	2	802	c.214G>T	c.(214-216)Ggc>Tgc	p.G72C	HSPB2_ENST00000537382.1_Missense_Mutation_p.G72C|CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000531198.1_5'Flank|CRYAB_ENST00000526180.1_5'Flank|HSPB2-C11orf52_ENST00000534100.1_Intron|CRYAB_ENST00000533280.1_5'Flank|CRYAB_ENST00000227251.3_5'Flank|CRYAB_ENST00000525823.1_5'Flank|CRYAB_ENST00000533475.1_Intron|CRYAB_ENST00000533971.1_5'Flank	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	72					positive regulation of catalytic activity (GO:0043085)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)	p.G72C(1)		large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		GCTCAGTGAGGGCAAGTTCCA	0.637																																						uc001pmg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(214-216)GGC>TGC		heat shock 27kDa protein 2							92.0	91.0	91.0					11																	111784284		2201	4297	6498	SO:0001583	missense	3316				response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding	g.chr11:111784284G>T	U75898	CCDS8352.1	11q22-q23	2011-09-02	2002-08-29			ENSG00000170276		"""Heat shock proteins / HSPB"""	5247	protein-coding gene	gene with protein product		602179	"""heat shock 27kD protein 2"""			9344664, 9490724	Standard	NM_001541		Approved	Hs.78846, MKBP	uc001pmg.2	Q16082		ENST00000304298.3:c.214G>T	11.37:g.111784284G>T	ENSP00000302476:p.Gly72Cys					CRYAB_uc001pmf.1_5'Flank|CRYAB_uc010rwp.1_5'Flank|HSPB2_uc009yyj.2_RNA|C11orf52_uc001pmh.2_Intron	p.G72C	NM_001541	NP_001532	Q16082	HSPB2_HUMAN		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)	2	308	+		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	72					Q6I9U7	Missense_Mutation	SNP	ENST00000304298.3	37	c.214G>T	CCDS8352.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481192	0.63849	.	.	ENSG00000170276	ENST00000304298;ENST00000537382	D;D	0.91996	-2.95;-2.95	4.84	4.84	0.62591	Heat shock protein Hsp20 (2);HSP20-like chaperone (1);	0.203652	0.40728	N	0.001028	D	0.87700	0.6243	L	0.33339	1.005	0.34736	D	0.730286	B	0.30146	0.27	B	0.32289	0.143	D	0.90499	0.4472	10	0.87932	D	0	-22.31	12.7916	0.57537	0.0:0.297:0.703:0.0	.	72	Q16082	HSPB2_HUMAN	C	72	ENSP00000302476:G72C;ENSP00000445585:G72C	ENSP00000302476:G72C	G	+	1	0	HSPB2	111289494	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.122000	0.57910	2.688000	0.91661	0.650000	0.86243	GGC		0.637	HSPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391669.1				15	76	1	0	3.27435e-08	0.00245	3.71584e-08	15	76		
NXPE4	54827	broad.mit.edu	37	11	114441787	114441787	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:114441787A>G	ENST00000375478.3	-	6	1688	c.1508T>C	c.(1507-1509)tTc>tCc	p.F503S	NXPE4_ENST00000424261.2_Missense_Mutation_p.F219S	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	503						extracellular vesicular exosome (GO:0070062)		p.F503S(1)									GAGATCCTGGAAAATGTCCTT	0.363																																						uc001ppc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(2)	4						c.(1507-1509)TTC>TCC		hypothetical protein LOC54827 isoform 1							157.0	143.0	147.0					11																	114441787		1895	4118	6013	SO:0001583	missense	54827					extracellular region		g.chr11:114441787A>G	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.1508T>C	11.37:g.114441787A>G	ENSP00000364627:p.Phe503Ser					FAM55D_uc001ppd.2_Missense_Mutation_p.F219S	p.F503S	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)	6	1689	-		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	503					Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	c.1508T>C	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.370350	0.82573	.	.	ENSG00000137634	ENST00000424261;ENST00000375478	T;T	0.29655	1.56;1.56	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000003	T	0.65101	0.2659	M	0.93420	3.415	0.48830	D	0.999716	D	0.76494	0.999	D	0.70016	0.967	T	0.74887	-0.3511	10	0.66056	D	0.02	.	14.9325	0.70926	1.0:0.0:0.0:0.0	.	503	Q6UWF7	FA55D_HUMAN	S	219;503	ENSP00000401503:F219S;ENSP00000364627:F503S	ENSP00000364627:F503S	F	-	2	0	FAM55D	113946997	1.000000	0.71417	0.992000	0.48379	0.969000	0.65631	3.840000	0.55843	2.258000	0.74832	0.533000	0.62120	TTC		0.363	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1		NM_017678		3	64	0	0	0	0.004672	0	3	64		
TAGLN	6876	broad.mit.edu	37	11	117073833	117073833	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:117073833T>C	ENST00000532870.1	+	1	1245	c.104T>C	c.(103-105)aTa>aCa	p.I35T	TAGLN_ENST00000530649.1_Missense_Mutation_p.I35T|TAGLN_ENST00000392951.4_Missense_Mutation_p.I35T|PCSK7_ENST00000529458.1_5'Flank			Q01995	TAGL_HUMAN	transgelin	35	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				epithelial cell differentiation (GO:0030855)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)		p.I35T(1)		central_nervous_system(1)|large_intestine(4)|lung(1)|urinary_tract(1)	7	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|Epithelial(105;5.49e-05)|all cancers(92;0.000435)		GAGTGGATCATAGTGCAGTGT	0.612																																						uc001pqm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(103-105)ATA>ACA		transgelin							66.0	56.0	59.0					11																	117073833		2201	4296	6497	SO:0001583	missense	6876				muscle organ development	cytoplasm	actin binding	g.chr11:117073833T>C	M95787	CCDS8381.1	11q23.2	2008-07-21				ENSG00000149591			11553	protein-coding gene	gene with protein product	"""SM22-alpha"", ""transgelin variant 2"""	600818				8117285, 1520290	Standard	NM_003186		Approved	SM22, WS3-10, TAGLN1, SMCC, DKFZp686P11128	uc001pqm.3	Q01995		ENST00000532870.1:c.104T>C	11.37:g.117073833T>C	ENSP00000432282:p.Ile35Thr					uc001pqk.1_5'Flank|TAGLN_uc001pql.1_Intron|TAGLN_uc001pqn.2_Missense_Mutation_p.I35T|TAGLN_uc001pqo.2_Missense_Mutation_p.I35T|TAGLN_uc001pqp.2_Missense_Mutation_p.I35T|uc001pqq.1_5'Flank	p.I35T	NM_003186	NP_003177	Q01995	TAGL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|Epithelial(105;5.49e-05)|all cancers(92;0.000435)	2	225	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	35			CH.		O15542	Missense_Mutation	SNP	ENST00000532870.1	37	c.104T>C	CCDS8381.1	.	.	.	.	.	.	.	.	.	.	T	4.063	0.009564	0.07912	.	.	ENSG00000149591	ENST00000392951;ENST00000525531;ENST00000278968;ENST00000529792;ENST00000530649;ENST00000532870	D;D;D;D;D;D	0.94828	-3.53;-3.53;-3.53;-3.53;-3.53;-3.53	4.74	4.74	0.60224	Calponin homology domain (5);	0.971354	0.08533	N	0.931750	D	0.91026	0.7177	L	0.41415	1.275	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.80576	-0.1321	10	0.29301	T	0.29	.	10.0941	0.42464	0.0:0.0:0.1683:0.8317	.	35	Q01995	TAGL_HUMAN	T	35	ENSP00000376678:I35T;ENSP00000432054:I35T;ENSP00000278968:I35T;ENSP00000431862:I35T;ENSP00000431941:I35T;ENSP00000432282:I35T	ENSP00000278968:I35T	I	+	2	0	TAGLN	116579043	0.316000	0.24580	0.011000	0.14972	0.916000	0.54674	2.959000	0.49153	2.117000	0.64856	0.459000	0.35465	ATA		0.612	TAGLN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392864.1		NM_001001522		13	10	0	0	0	0.00245	0	13	10		
KMT2A	4297	broad.mit.edu	37	11	118374909	118374909	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:118374909G>C	ENST00000389506.5	+	27	8293	c.8293G>C	c.(8293-8295)Gaa>Caa	p.E2765Q	KMT2A_ENST00000534358.1_Missense_Mutation_p.E2768Q|KMT2A_ENST00000354520.4_Missense_Mutation_p.E2727Q			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2765					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.E2768Q(1)|p.E2765Q(1)									TGGGGAGAAAGAACATGTCAC	0.403																																						uc001pta.2		NaN								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		2	Substitution - Missense(2)		urinary_tract(2)	lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(8293-8295)GAA>CAA		myeloid/lymphoid or mixed-lineage leukemia							91.0	90.0	91.0					11																	118374909		2200	4296	6496	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118374909G>C	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.8293G>C	11.37:g.118374909G>C	ENSP00000374157:p.Glu2765Gln					MLL_uc001ptb.2_Missense_Mutation_p.E2768Q	p.E2765Q	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	27	8316	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	2765					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.8293G>C	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	8.403	0.842451	0.16963	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.81908	-1.55;-1.55;-1.52	6.17	6.17	0.99709	.	0.217731	0.48767	D	0.000177	T	0.73560	0.3602	N	0.22421	0.69	0.22479	N	0.999065	P;P	0.42827	0.791;0.791	B;B	0.37650	0.255;0.255	T	0.70673	-0.4807	10	0.48119	T	0.1	.	15.581	0.76439	0.0:0.0:0.8623:0.1377	.	2768;2765	E9PQG7;Q03164	.;MLL1_HUMAN	Q	2768;2765;2727;1675	ENSP00000436786:E2768Q;ENSP00000374157:E2765Q;ENSP00000346516:E2727Q	ENSP00000346516:E2727Q	E	+	1	0	MLL	117880119	1.000000	0.71417	0.966000	0.40874	0.937000	0.57800	4.916000	0.63362	2.941000	0.99782	0.655000	0.94253	GAA		0.403	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2		NM_005933		5	64	0	0	0	0.001168	0	5	64		
HINFP	25988	broad.mit.edu	37	11	119003661	119003661	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:119003661C>T	ENST00000350777.2	+	8	1026	c.963C>T	c.(961-963)ttC>ttT	p.F321F	HINFP_ENST00000527410.1_Silent_p.F321F	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	321					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.F321F(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ACTGCACCTTCAGTGCCCGAT	0.522																																						uc001pvp.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(961-963)TTC>TTT		MBD2 (methyl-CpG-binding protein)-interacting							112.0	105.0	107.0					11																	119003661		2200	4295	6495	SO:0001819	synonymous_variant	25988				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:119003661C>T	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"""Zinc fingers, C2H2-type"""	17850	protein-coding gene	gene with protein product	"""histone nuclear factor P"""	607099	"""MBD2-interacting zinc finger 1"", ""MBD2-interacting zinc finger"""	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.963C>T	11.37:g.119003661C>T						HINFP_uc001pvq.2_Silent_p.F321F|HINFP_uc001pvr.2_Silent_p.F74F	p.F321F	NM_015517	NP_056332	Q9BQA5	HINFP_HUMAN			9	1152	+			321			C2H2-type 8.		B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Silent	SNP	ENST00000350777.2	37	c.963C>T	CCDS8414.1																																																																																				0.522	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2		NM_015517		57	38	0	0	0	0.01441	0	57	38		
OR8B12	219858	broad.mit.edu	37	11	124413346	124413346	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:124413346C>G	ENST00000306842.2	-	1	229	c.205G>C	c.(205-207)Gat>Cat	p.D69H		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D69H(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		AAACAGAAATCTATTAAAGAG	0.453																																						uc010sam.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)|skin(1)	3						c.(205-207)GAT>CAT		olfactory receptor, family 8, subfamily B,							78.0	77.0	77.0					11																	124413346		2201	4299	6500	SO:0001583	missense	219858				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124413346C>G		CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.205G>C	11.37:g.124413346C>G	ENSP00000307159:p.Asp69His						p.D69H	NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)	1	205	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	69			Helical; Name=2; (Potential).		B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	ENST00000306842.2	37	c.205G>C	CCDS31711.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.409018	0.42715	.	.	ENSG00000170953	ENST00000306842	T	0.01185	5.21	3.77	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000021	T	0.13329	0.0323	H	0.98178	4.165	0.50039	D	0.99984	D	0.89917	1.0	D	0.97110	1.0	T	0.17048	-1.0382	10	0.87932	D	0	.	15.5677	0.76306	0.0:1.0:0.0:0.0	.	69	Q8NGG6	OR8BC_HUMAN	H	69	ENSP00000307159:D69H	ENSP00000307159:D69H	D	-	1	0	OR8B12	123918556	1.000000	0.71417	0.974000	0.42286	0.031000	0.12232	5.708000	0.68377	2.397000	0.81536	0.650000	0.86243	GAT		0.453	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1				20	15	0	0	0	0.008871	0	20	15		
PKNOX2	63876	broad.mit.edu	37	11	125298937	125298937	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:125298937G>T	ENST00000298282.9	+	11	1237	c.966G>T	c.(964-966)agG>agT	p.R322S	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.R258S	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	322					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)	p.R322S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		ATGAGAAGAGGCAGATCGCAG	0.597											OREG0021475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qbu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(964-966)AGG>AGT		PBX/knotted 1 homeobox 2							79.0	85.0	83.0					11																	125298937		2098	4213	6311	SO:0001583	missense	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125298937G>T	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.966G>T	11.37:g.125298937G>T	ENSP00000298282:p.Arg322Ser		OREG0021475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1540	PKNOX2_uc010saz.1_Missense_Mutation_p.R293S|PKNOX2_uc010sba.1_Missense_Mutation_p.R293S|PKNOX2_uc010sbb.1_Missense_Mutation_p.R258S|PKNOX2_uc001qbv.2_Missense_Mutation_p.R87S	p.R322S	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	11	1280	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	322			Homeobox.		B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	c.966G>T	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926647	0.73327	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175	D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62	5.71	2.77	0.32553	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.046511	0.85682	D	0.000000	D	0.89546	0.6746	L	0.38531	1.155	0.58432	D	0.999999	P;P;P	0.52170	0.923;0.951;0.818	P;P;B	0.55011	0.652;0.766;0.378	D	0.87659	0.2533	10	0.66056	D	0.02	-10.1444	9.9181	0.41448	0.2236:0.0:0.7764:0.0	.	258;293;322	F5GZ15;B7Z3G7;Q96KN3	.;.;PKNX2_HUMAN	S	293;293;322;258	ENSP00000434732:R293S;ENSP00000433971:R293S;ENSP00000298282:R322S;ENSP00000441470:R258S	ENSP00000298282:R322S	R	+	3	2	PKNOX2	124804147	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.796000	0.47869	0.309000	0.22966	-0.142000	0.14014	AGG		0.597	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3				14	17	1	0	3.35478e-16	0.003163	4.02175e-16	14	17		
ARHGAP32	9743	broad.mit.edu	37	11	128844494	128844494	+	Silent	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:128844494A>C	ENST00000310343.9	-	20	2555	c.2556T>G	c.(2554-2556)tcT>tcG	p.S852S	ARHGAP32_ENST00000527272.1_Silent_p.S503S|ARHGAP32_ENST00000392657.3_Silent_p.S503S|ARHGAP32_ENST00000524655.1_Silent_p.S778S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	852					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.S503S(1)|p.S852S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						AGACAGGTTCAGAGCTTGCTG	0.443																																						uc009zcp.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	lung(3)|ovary(2)	5						c.(2554-2556)TCT>TCG		Rho GTPase-activating protein isoform 1							137.0	131.0	133.0					11																	128844494		2201	4297	6498	SO:0001819	synonymous_variant	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128844494A>C	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.2556T>G	11.37:g.128844494A>C						ARHGAP32_uc009zcq.1_Silent_p.S812S|ARHGAP32_uc009zco.2_5'UTR|ARHGAP32_uc001qez.2_Silent_p.S503S	p.S852S	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN			20	2556	-			852					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Silent	SNP	ENST00000310343.9	37	c.2556T>G	CCDS44769.1																																																																																				0.443	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3		NM_014715		55	59	0	0	0	0.01441	0	55	59		
OPCML	4978	broad.mit.edu	37	11	132290160	132290160	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:132290160T>A	ENST00000331898.7	-	7	1543	c.965A>T	c.(964-966)aAc>aTc	p.N322I	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Missense_Mutation_p.N281I|OPCML_ENST00000541867.1_Missense_Mutation_p.N331I|OPCML_ENST00000524381.1_Missense_Mutation_p.N315I	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	322					cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)	p.N322I(1)|p.N315I(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GGAGGCCGAGTTTACACCATC	0.502																																						uc001qgs.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|skin(1)	3						c.(964-966)AAC>ATC		opioid binding protein/cell adhesion							131.0	107.0	115.0					11																	132290160		2201	4297	6498	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132290160T>A	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.965A>T	11.37:g.132290160T>A	ENSP00000330862:p.Asn322Ile					OPCML_uc001qgu.2_Missense_Mutation_p.N315I|OPCML_uc010sck.1_Missense_Mutation_p.N331I|OPCML_uc001qgt.2_Missense_Mutation_p.N321I|OPCML_uc010scl.1_Missense_Mutation_p.N281I	p.N322I	NM_002545	NP_002536	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	7	1015	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	322					B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.965A>T	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.212814	0.58452	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.62498	0.37;0.36;0.55;0.02	5.53	3.13	0.36017	.	0.347006	0.31031	N	0.008390	T	0.55893	0.1949	L	0.43152	1.355	0.42650	D	0.993441	B;B;P;B	0.41710	0.263;0.255;0.76;0.161	B;B;P;B	0.47206	0.14;0.163;0.541;0.239	T	0.56685	-0.7938	10	0.66056	D	0.02	-10.9366	4.2078	0.10497	0.0:0.1611:0.2:0.6388	.	331;315;321;322	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	I	322;315;281;289;331	ENSP00000330862:N322I;ENSP00000434750:N315I;ENSP00000363910:N281I;ENSP00000445496:N331I	ENSP00000330862:N322I	N	-	2	0	OPCML	131795370	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.930000	0.28858	0.898000	0.36418	0.460000	0.39030	AAC		0.502	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3		NM_001012393		7	46	0	0	0	0.001984	0	7	46		
KDM5A	5927	broad.mit.edu	37	12	416853	416853	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:416853G>A	ENST00000399788.2	-	23	4059	c.3697C>T	c.(3697-3699)Ctt>Ttt	p.L1233F	KDM5A_ENST00000382815.4_Missense_Mutation_p.L1233F	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1233					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.L1233F(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AACTTCTGAAGGGATACCAGG	0.527			T	NUP98	AML																																	uc001qif.1		NaN		Dom	yes		12	12p11	5927	T 	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		2	Substitution - Missense(2)		urinary_tract(2)	skin(2)|ovary(1)	3						c.(3697-3699)CTT>TTT		retinoblastoma binding protein 2 isoform 1							75.0	74.0	74.0					12																	416853		1904	4111	6015	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:416853G>A		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3697C>T	12.37:g.416853G>A	ENSP00000382688:p.Leu1233Phe					KDM5A_uc001qie.1_Missense_Mutation_p.L1233F	p.L1233F	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN			23	4060	-			1233					A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.3697C>T	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375658	0.82682	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	T;T	0.01209	5.17;5.17	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.06371	0.0164	M	0.69823	2.125	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.01256	-1.1404	10	0.87932	D	0	-15.8083	14.2971	0.66321	0.0712:0.0:0.9288:0.0	.	1233;1233	P29375;P29375-2	KDM5A_HUMAN;.	F	1233	ENSP00000382688:L1233F;ENSP00000372265:L1233F	ENSP00000372265:L1233F	L	-	1	0	KDM5A	287114	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.932000	0.87634	2.830000	0.97506	0.585000	0.79938	CTT		0.527	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1		NM_005056		20	48	0	0	0	0.010504	0	20	48		
WNK1	65125	broad.mit.edu	37	12	936296	936296	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:936296C>G	ENST00000315939.6	+	3	1664	c.1021C>G	c.(1021-1023)Cga>Gga	p.R341G	WNK1_ENST00000535572.1_Missense_Mutation_p.R341G|WNK1_ENST00000530271.2_Missense_Mutation_p.R341G|WNK1_ENST00000537687.1_Missense_Mutation_p.R341G|WNK1_ENST00000447667.2_Missense_Mutation_p.R341G	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	341	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.R341G(2)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCTTCATACTCGAACTCCACC	0.438																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(1021-1023)CGA>GGA		WNK lysine deficient protein kinase 1							173.0	167.0	169.0					12																	936296		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:936296C>G	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1021C>G	12.37:g.936296C>G	ENSP00000313059:p.Arg341Gly					WNK1_uc001qin.2_Missense_Mutation_p.R341G|WNK1_uc001qip.3_Missense_Mutation_p.R341G	p.R341G	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		3	1528	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		341			Protein kinase.		A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.1021C>G	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949883	0.73787	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000447667;ENST00000530271	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	5.54	3.68	0.42216	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49305	D	0.000151	T	0.77765	0.4179	L	0.56340	1.77	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	T	0.79240	-0.1885	10	0.87932	D	0	-9.5701	14.6606	0.68868	0.266:0.734:0.0:0.0	.	341;341;341	F5GWT4;Q9H4A3;F6UYG0	.;WNK1_HUMAN;.	G	341	ENSP00000441972:R341G;ENSP00000313059:R341G;ENSP00000444465:R341G;ENSP00000392542:R341G;ENSP00000433548:R341G	ENSP00000313059:R341G	R	+	1	2	WNK1	806557	0.631000	0.27164	1.000000	0.80357	0.994000	0.84299	1.298000	0.33412	0.679000	0.31345	-0.293000	0.09583	CGA		0.438	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1		NM_018979		18	228	0	0	0	0.007413	0	18	228		
LRTM2	654429	broad.mit.edu	37	12	1943830	1943830	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:1943830G>A	ENST00000543818.1	+	5	1898	c.1056G>A	c.(1054-1056)ctG>ctA	p.L352L	LRTM2_ENST00000543730.1_3'UTR|LRTM2_ENST00000535041.1_Silent_p.L352L|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000587995.1_Intron|LRTM2_ENST00000299194.1_Silent_p.L352L|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000585732.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	352						integral component of membrane (GO:0016021)		p.L352L(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GCCAGCCCCTGATGGGGGACC	0.652																																						uc001qjt.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(1)	1						c.(1054-1056)CTG>CTA		leucine-rich repeats and transmembrane domains 2							40.0	43.0	42.0					12																	1943830		2201	4293	6494	SO:0001819	synonymous_variant	654429					integral to membrane		g.chr12:1943830G>A	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.1056G>A	12.37:g.1943830G>A						CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Silent_p.L352L|LRTM2_uc010sdx.1_Silent_p.L352L|LRTM2_uc001qjv.2_Silent_p.L114L	p.L352L	NM_001039029	NP_001034118	Q8N967	LRTM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000834)		5	1862	+	Ovarian(42;0.107)		352			Cytoplasmic (Potential).		A7E2U6	Silent	SNP	ENST00000543818.1	37	c.1056G>A	CCDS31726.1	.	.	.	.	.	.	.	.	.	.	G	9.877	1.200503	0.22121	.	.	ENSG00000166159	ENST00000424079	.	.	.	5.3	-1.88	0.07713	.	.	.	.	.	T	0.60183	0.2249	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63116	-0.6709	5	0.87932	D	0	.	8.0965	0.30831	0.2782:0.4167:0.3051:0.0	.	.	.	.	N	109	.	ENSP00000394967:D109N	D	+	1	0	LRTM2	1814091	0.938000	0.31826	0.992000	0.48379	0.931000	0.56810	0.172000	0.16704	-0.064000	0.13043	0.561000	0.74099	GAT		0.652	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398055.1				8	82	0	0	0	0.008291	0	8	82		
C12orf60	144608	broad.mit.edu	37	12	14976352	14976352	+	Silent	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:14976352C>G	ENST00000330828.2	+	2	687	c.483C>G	c.(481-483)acC>acG	p.T161T	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	161								p.T161T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						CAGAAGACACCAAAGAGCAAT	0.413																																						uc001rcj.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(481-483)ACC>ACG		hypothetical protein LOC144608							66.0	67.0	66.0					12																	14976352		2203	4300	6503	SO:0001819	synonymous_variant	144608							g.chr12:14976352C>G	BC038836	CCDS8667.1	12p12.3	2012-08-16			ENSG00000182993	ENSG00000182993			28726	protein-coding gene	gene with protein product						12477932	Standard	NM_175874		Approved	MGC47869	uc001rcj.4	Q5U649	OTTHUMG00000167473	ENST00000330828.2:c.483C>G	12.37:g.14976352C>G							p.T161T	NM_175874	NP_787070	Q5U649	CL060_HUMAN			2	687	+			161					A8K1M7|Q5XKK8|Q8IXY2	Silent	SNP	ENST00000330828.2	37	c.483C>G	CCDS8667.1																																																																																				0.413	C12orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394735.1		NM_175874		25	48	0	0	0	0.004656	0	25	48		
FGD4	121512	broad.mit.edu	37	12	32760950	32760950	+	Silent	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:32760950G>T	ENST00000427716.2	+	8	1477	c.1053G>T	c.(1051-1053)cgG>cgT	p.R351R	FGD4_ENST00000534526.2_Silent_p.R488R|FGD4_ENST00000525053.1_Silent_p.R463R|FGD4_ENST00000546442.1_Silent_p.R258R|FGD4_ENST00000531134.1_Silent_p.R436R|FGD4_ENST00000266482.3_Silent_p.R103R|FGD4_ENST00000381025.3_Silent_p.R103R	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	351	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.R351R(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CTGTTCAGCGGATTCCCCGGT	0.378																																						uc001rkz.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(1051-1053)CGG>CGT		FYVE, RhoGEF and PH domain containing 4							142.0	140.0	141.0					12																	32760950		2203	4300	6503	SO:0001819	synonymous_variant	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32760950G>T	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.1053G>T	12.37:g.32760950G>T						FGD4_uc001rlc.2_Silent_p.R436R|FGD4_uc001rky.2_Silent_p.R103R|FGD4_uc001rla.2_Silent_p.R7R|FGD4_uc010ske.1_Silent_p.R463R|FGD4_uc001rlb.1_RNA	p.R351R	NM_139241	NP_640334	Q96M96	FGD4_HUMAN			8	1530	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		351			DH.		Q6ULS2|Q8TCP6	Silent	SNP	ENST00000427716.2	37	c.1053G>T	CCDS8727.1																																																																																				0.378	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1		NM_139241		49	131	1	0	4.0181e-32	0.01441	5.02574e-32	49	131		
KMT2D	8085	broad.mit.edu	37	12	49444319	49444319	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:49444319C>A	ENST00000301067.7	-	11	3051	c.3052G>T	c.(3052-3054)Gag>Tag	p.E1018*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1018	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E745*(1)|p.E1018*(1)									GGAAGGGGCTCCATCAGGATG	0.612																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		2	Substitution - Nonsense(2)		urinary_tract(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(3052-3054)GAG>TAG		myeloid/lymphoid or mixed-lineage leukemia 2							64.0	74.0	71.0					12																	49444319		2038	4202	6240	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49444319C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.3052G>T	12.37:g.49444319C>A	ENSP00000301067:p.Glu1018*	HNSCC(34;0.089)					p.E1018*	NM_003482	NP_003473	O14686	MLL2_HUMAN			11	3052	-			1018			Pro-rich.		O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.3052G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	37	6.216281	0.97385	.	.	ENSG00000167548	ENST00000301067	.	.	.	4.02	4.02	0.46733	.	0.236200	0.21895	N	0.067529	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.6042	0.51022	0.0:1.0:0.0:0.0	.	.	.	.	X	1018	.	ENSP00000301067:E1018X	E	-	1	0	MLL2	47730586	0.683000	0.27633	0.995000	0.50966	0.559000	0.35586	1.697000	0.37784	2.087000	0.62958	0.558000	0.71614	GAG		0.612	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				21	32	1	0	1.10513e-12	0.014323	1.30548e-12	21	32		
LMBR1L	55716	broad.mit.edu	37	12	49491848	49491848	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:49491848G>A	ENST00000267102.8	-	16	1623	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F	LMBR1L_ENST00000547382.1_Silent_p.F407F|LMBR1L_ENST00000395141.4_Silent_p.F422F	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	427					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F427F(1)|p.F422F(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCAGCCAGTTGAAGCGTCCAA	0.572											OREG0021783	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rth.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	pancreas(1)	1						c.(1279-1281)TTC>TTT		lipocalin-interacting membrane receptor							147.0	141.0	143.0					12																	49491848		2203	4300	6503	SO:0001819	synonymous_variant	55716				endocytosis	integral to membrane|plasma membrane	receptor activity	g.chr12:49491848G>A	AB033000	CCDS8780.2, CCDS73466.1	12q13.12	2013-08-05	2013-08-05		ENSG00000139636	ENSG00000139636			18268	protein-coding gene	gene with protein product		610007	"""limb region 1 homolog (mouse)-like"""			10574461, 11287427	Standard	XM_005269022		Approved	FLJ10494, KIAA1174	uc001rth.4	Q6UX01	OTTHUMG00000150511	ENST00000267102.8:c.1281C>T	12.37:g.49491848G>A			OREG0021783	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	962	LMBR1L_uc001rtg.3_Silent_p.F422F|LMBR1L_uc001rti.3_Silent_p.F407F	p.F427F	NM_018113	NP_060583	Q6UX01	LMBRL_HUMAN			16	1623	-			427			Extracellular (Potential).		Q969J4|Q96BY8|Q96HN8|Q9NT09|Q9NVE1|Q9NVU9|Q9ULP6	Silent	SNP	ENST00000267102.8	37	c.1281C>T	CCDS8780.2																																																																																				0.572	LMBR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318696.1		NM_018113		29	106	0	0	0	0.007291	0	29	106		
DIP2B	57609	broad.mit.edu	37	12	51138369	51138369	+	Splice_Site	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:51138369G>T	ENST00000301180.5	+	38	4512		c.e38-1		Y_RNA_ENST00000363558.1_RNA	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TGAAATTTCAGTGCCGTGTTC	0.468																																						uc001rwv.2		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(4)|breast(1)|pancreas(1)	6						c.e38-1		DIP2 disco-interacting protein 2 homolog B							189.0	154.0	166.0					12																	51138369		2203	4300	6503	SO:0001630	splice_region_variant	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51138369G>T	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.4479-1G>T	12.37:g.51138369G>T						DIP2B_uc009zlt.2_Splice_Site_p.C923_splice	p.C1493_splice	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN			38	4635	+								Q6B011|Q8N1L5|Q8NB38	Splice_Site	SNP	ENST00000301180.5	37	c.4479_splice	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265944	0.59540	.	.	ENSG00000066084	ENST00000301180	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DIP2B	49424636	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	9.601000	0.98297	2.941000	0.99782	0.655000	0.94253	.		0.468	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1		NM_173602	Intron	42	42	1	0	5.2432e-18	0.01441	6.38028e-18	42	42		
CSRNP2	81566	broad.mit.edu	37	12	51461550	51461550	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:51461550G>C	ENST00000228515.1	-	4	911	c.614C>G	c.(613-615)gCc>gGc	p.A205G		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	205					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A205G(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						CAGGCGGATGGCTCGAAGTTC	0.572																																						uc001rxu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(613-615)GCC>GGC		TGF-beta induced apoptosis protein 12							110.0	99.0	103.0					12																	51461550		2203	4300	6503	SO:0001583	missense	81566				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:51461550G>C	AJ298133	CCDS8807.1	12q13.11-q13.12	2012-04-17	2009-01-07	2009-01-07				"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16006	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 72"""		"""chromosome 12 open reading frame 22"", ""family with sequence similarity 130, member A1"""	C12orf22, FAM130A1		17726538	Standard	NM_030809		Approved	C12ORF2, TAIP-12, PPP1R72	uc001rxu.2	Q9H175		ENST00000228515.1:c.614C>G	12.37:g.51461550G>C	ENSP00000228515:p.Ala205Gly						p.A205G	NM_030809	NP_110436	Q9H175	CSRN2_HUMAN			4	912	-			205						Missense_Mutation	SNP	ENST00000228515.1	37	c.614C>G	CCDS8807.1	.	.	.	.	.	.	.	.	.	.	G	35	5.497373	0.96355	.	.	ENSG00000110925	ENST00000228515	T	0.11604	2.76	4.84	4.84	0.62591	.	0.136277	0.49305	D	0.000146	T	0.27663	0.0680	M	0.71581	2.175	0.58432	D	0.999999	D	0.54207	0.965	P	0.55615	0.78	T	0.00880	-1.1529	10	0.62326	D	0.03	-19.0449	17.253	0.87047	0.0:0.0:1.0:0.0	.	205	Q9H175	CSRN2_HUMAN	G	205	ENSP00000228515:A205G	ENSP00000228515:A205G	A	-	2	0	CSRNP2	49747817	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.744000	0.85034	2.700000	0.92200	0.561000	0.74099	GCC		0.572	CSRNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404893.1				5	61	0	0	0	0.001168	0	5	61		
KRT76	51350	broad.mit.edu	37	12	53170846	53170846	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:53170846C>T	ENST00000332411.2	-	1	283	c.230G>A	c.(229-231)cGg>cAg	p.R77Q		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	77	Head.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.R77Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCTCCAGCCCGGGAGCTGCC	0.632																																						uc001sax.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)|skin(1)	2						c.(229-231)CGG>CAG		keratin 76							119.0	153.0	141.0					12																	53170846		2203	4300	6503	SO:0001583	missense	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53170846C>T	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.230G>A	12.37:g.53170846C>T	ENSP00000330101:p.Arg77Gln						p.R77Q	NM_015848	NP_056932	Q01546	K22O_HUMAN			1	284	-			77			Head.		B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	c.230G>A	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	c	13.88	2.368549	0.42003	.	.	ENSG00000185069	ENST00000332411	D	0.85556	-2.0	4.38	2.56	0.30785	.	0.000000	0.40908	D	0.000992	T	0.74966	0.3786	L	0.49126	1.545	0.29906	N	0.823951	B	0.30709	0.291	B	0.12156	0.007	T	0.65932	-0.6048	10	0.27785	T	0.31	.	6.654	0.22977	0.0:0.7877:0.0:0.2123	.	77	Q01546	K22O_HUMAN	Q	77	ENSP00000330101:R77Q	ENSP00000330101:R77Q	R	-	2	0	KRT76	51457113	0.960000	0.32886	1.000000	0.80357	0.568000	0.35870	-0.022000	0.12480	0.792000	0.33850	0.555000	0.69702	CGG		0.632	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1		NM_015848		16	153	0	0	0	0.00499	0	16	153		
KRT79	338785	broad.mit.edu	37	12	53228038	53228038	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:53228038A>G	ENST00000330553.5	-	1	41	c.7T>C	c.(7-9)Tcc>Ccc	p.S3P		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	3	Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)	p.S3P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAGACGGAGGACCTCATAGCT	0.612																																						uc001sbb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(2)	4						c.(7-9)TCC>CCC		keratin 6L							25.0	25.0	25.0					12																	53228038		2203	4298	6501	SO:0001583	missense	338785					keratin filament	structural molecule activity	g.chr12:53228038A>G	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.7T>C	12.37:g.53228038A>G	ENSP00000328358:p.Ser3Pro						p.S3P	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN			1	40	-			3			Head.		Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	c.7T>C	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	A	12.05	1.820920	0.32237	.	.	ENSG00000185640	ENST00000330553	D	0.82803	-1.65	4.05	4.05	0.47172	.	0.141093	0.33144	N	0.005224	T	0.71821	0.3385	N	0.19112	0.55	0.28673	N	0.905541	B	0.17852	0.024	B	0.14023	0.01	T	0.68819	-0.5308	10	0.66056	D	0.02	.	12.784	0.57493	1.0:0.0:0.0:0.0	.	3	Q5XKE5	K2C79_HUMAN	P	3	ENSP00000328358:S3P	ENSP00000328358:S3P	S	-	1	0	KRT79	51514305	.	.	0.995000	0.50966	0.166000	0.22503	.	.	2.070000	0.61991	0.454000	0.30748	TCC		0.612	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1		NM_175834		6	28	0	0	0	0.004482	0	6	28		
MYO1A	4640	broad.mit.edu	37	12	57423361	57423361	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:57423361C>T	ENST00000442789.2	-	27	3022	c.2735G>A	c.(2734-2736)cGg>cAg	p.R912Q	MYO1A_ENST00000544473.1_Missense_Mutation_p.R750Q|MYO1A_ENST00000300119.3_Missense_Mutation_p.R912Q|TAC3_ENST00000415231.1_5'Flank	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	912	Myosin tail. {ECO:0000255}.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R912Q(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GAGGAGAATCCGAGAAGAAGT	0.552																																						uc001smw.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(4)|ovary(2)|urinary_tract(1)	7						c.(2734-2736)CGG>CAG		myosin IA							82.0	81.0	81.0					12																	57423361		2203	4300	6503	SO:0001583	missense	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57423361C>T	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.2735G>A	12.37:g.57423361C>T	ENSP00000393392:p.Arg912Gln					MYO1A_uc010sqz.1_Missense_Mutation_p.R750Q|MYO1A_uc009zpd.2_Missense_Mutation_p.R912Q	p.R912Q	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN			26	2978	-			912					Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	c.2735G>A	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692590	0.88735	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	T;T;T	0.57273	0.41;0.41;0.41	4.48	4.48	0.54585	Myosin tail 2 (1);	0.067672	0.53938	D	0.000056	T	0.71533	0.3351	M	0.81942	2.565	0.42650	D	0.993445	D	0.76494	0.999	D	0.72982	0.979	T	0.76143	-0.3067	10	0.72032	D	0.01	.	12.5493	0.56218	0.0:1.0:0.0:0.0	.	912	Q9UBC5	MYO1A_HUMAN	Q	912;912;750	ENSP00000300119:R912Q;ENSP00000393392:R912Q;ENSP00000440514:R750Q	ENSP00000300119:R912Q	R	-	2	0	MYO1A	55709628	1.000000	0.71417	0.986000	0.45419	0.937000	0.57800	4.078000	0.57606	2.332000	0.79248	0.460000	0.39030	CGG		0.552	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2		NM_005379		6	62	0	0	0	0.001168	0	6	62		
LRIG3	121227	broad.mit.edu	37	12	59274438	59274438	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:59274438C>T	ENST00000320743.3	-	13	2012	c.1726G>A	c.(1726-1728)Gag>Aag	p.E576K	LRIG3_ENST00000379141.4_Missense_Mutation_p.E516K	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	576	Ig-like C2-type 1.				otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E576K(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TATTTCCCCTCACTGGCAAAT	0.468			T	ROS1	NSCLC																																	uc001sqr.2		NaN		Dom	yes		12	12q14.1	121227		leucine-rich repeats and immunoglobulin-like domains 3			E					1	Substitution - Missense(1)		urinary_tract(1)	skin(3)|ovary(1)	4						c.(1726-1728)GAG>AAG		leucine-rich repeats and immunoglobulin-like							85.0	76.0	79.0					12																	59274438		2203	4300	6503	SO:0001583	missense	121227					integral to membrane		g.chr12:59274438C>T	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1726G>A	12.37:g.59274438C>T	ENSP00000326759:p.Glu576Lys					LRIG3_uc009zqh.2_Missense_Mutation_p.E516K|LRIG3_uc010ssh.1_RNA	p.E576K	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		13	1972	-			576			Ig-like C2-type 1.		Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	c.1726G>A	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	C	36	5.848555	0.97023	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.68181	-0.31;-0.31	6.04	6.04	0.98038	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.38111	N	0.001813	D	0.85208	0.5644	M	0.86740	2.835	0.80722	D	1	D;D	0.76494	0.989;0.999	P;D	0.79784	0.883;0.993	D	0.85319	0.1083	9	.	.	.	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	516;576	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	K	516;576	ENSP00000368436:E516K;ENSP00000326759:E576K	.	E	-	1	0	LRIG3	57560705	1.000000	0.71417	0.995000	0.50966	0.907000	0.53573	7.705000	0.84606	2.873000	0.98535	0.561000	0.74099	GAG		0.468	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1		NM_153377		9	35	0	0	0	0.006214	0	9	35		
METTL25	84190	broad.mit.edu	37	12	82793112	82793112	+	Missense_Mutation	SNP	C	C	T	rs141543492		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:82793112C>T	ENST00000248306.3	+	4	1139	c.1070C>T	c.(1069-1071)tCa>tTa	p.S357L	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	357							methyltransferase activity (GO:0008168)	p.S357L(1)									AATATATATTCACCTTTAACC	0.318																																						uc001szq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1069-1071)TCA>TTA		hypothetical protein LOC84190		C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	55.0	57.0	56.0		1070	3.5	1.0	12	dbSNP_134	56	0,8596		0,0,4298	no	missense	C12orf26	NM_032230.2	145	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	benign	357/604	82793112	1,13001	2203	4298	6501	SO:0001583	missense	84190							g.chr12:82793112C>T	BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 26"""	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.1070C>T	12.37:g.82793112C>T	ENSP00000248306:p.Ser357Leu						p.S357L	NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN			4	1091	+			357					Q9H5Y3	Missense_Mutation	SNP	ENST00000248306.3	37	c.1070C>T	CCDS9024.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893140	0.33442	2.27E-4	0.0	ENSG00000127720	ENST00000248306	T	0.34667	1.35	5.27	3.46	0.39613	.	0.215658	0.42548	D	0.000691	T	0.31263	0.0791	L	0.56769	1.78	0.39049	D	0.960281	B	0.06786	0.001	B	0.13407	0.009	T	0.11397	-1.0589	10	0.25106	T	0.35	-3.3791	8.6097	0.33795	0.0:0.6842:0.0:0.3158	.	357	Q8N6Q8	CL026_HUMAN	L	357	ENSP00000248306:S357L	ENSP00000248306:S357L	S	+	2	0	C12orf26	81317243	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	2.373000	0.44266	0.739000	0.32628	-0.233000	0.12211	TCA		0.318	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1		NM_032230		20	24	0	0	0	0.007413	0	20	24		
C12orf50	160419	broad.mit.edu	37	12	88420329	88420329	+	Silent	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:88420329G>T	ENST00000298699.2	-	3	249	c.69C>A	c.(67-69)atC>atA	p.I23I	C12orf50_ENST00000550553.1_Silent_p.I23I|C12orf50_ENST00000546547.1_5'Flank	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	23								p.I23I(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						AGATACAGCTGATCTTCACAC	0.373																																						uc001tam.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(67-69)ATC>ATA		hypothetical protein LOC160419							114.0	108.0	110.0					12																	88420329		2203	4300	6503	SO:0001819	synonymous_variant	160419							g.chr12:88420329G>T	AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.69C>A	12.37:g.88420329G>T						C12orf50_uc001tan.2_Silent_p.I77I	p.I23I	NM_152589	NP_689802	Q8NA57	CL050_HUMAN			3	237	-			23					Q6P674	Silent	SNP	ENST00000298699.2	37	c.69C>A	CCDS9031.1																																																																																				0.373	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1		NM_152589		9	46	1	0	1.12685e-05	0.004482	1.22708e-05	9	46		
CCDC38	120935	broad.mit.edu	37	12	96266046	96266046	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:96266046C>G	ENST00000344280.3	-	14	2028	c.1471G>C	c.(1471-1473)Gaa>Caa	p.E491Q	SNRPF_ENST00000553192.1_Intron|SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	491								p.E491Q(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGCCGCCATTCTTTCTGTTTC	0.403																																						uc001tek.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(1471-1473)GAA>CAA		coiled-coil domain containing 38							232.0	211.0	218.0					12																	96266046		2203	4300	6503	SO:0001583	missense	120935							g.chr12:96266046C>G	AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.1471G>C	12.37:g.96266046C>G	ENSP00000345470:p.Glu491Gln						p.E491Q	NM_182496	NP_872302	Q502W7	CCD38_HUMAN			14	1705	-			491					Q8N835	Missense_Mutation	SNP	ENST00000344280.3	37	c.1471G>C	CCDS9056.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183917	0.78677	.	.	ENSG00000165972	ENST00000344280	T	0.65549	-0.16	5.63	5.63	0.86233	.	0.051913	0.85682	D	0.000000	T	0.79106	0.4390	M	0.80332	2.49	0.80722	D	1	D	0.63880	0.993	P	0.61800	0.894	T	0.79334	-0.1846	10	0.49607	T	0.09	-27.0145	18.8133	0.92068	0.0:1.0:0.0:0.0	.	491	Q502W7	CCD38_HUMAN	Q	491	ENSP00000345470:E491Q	ENSP00000345470:E491Q	E	-	1	0	CCDC38	94790177	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.386000	0.59620	2.812000	0.96745	0.555000	0.69702	GAA		0.403	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408634.1		NM_182496		22	133	0	0	0	0.00333	0	22	133		
ACAD10	80724	broad.mit.edu	37	12	112174762	112174762	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:112174762C>T	ENST00000313698.4	+	12	1823	c.1668C>T	c.(1666-1668)ttC>ttT	p.F556F	ACAD10_ENST00000455480.2_Silent_p.F587F|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Silent_p.F556F|ACAD10_ENST00000392636.2_Silent_p.F158F	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	556						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.F556F(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TTTCCTTTTTCCGTGTGGCTG	0.527																																						uc001tsq.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(1666-1668)TTC>TTT		acyl-Coenzyme A dehydrogenase family, member 10							122.0	111.0	114.0					12																	112174762		2203	4300	6503	SO:0001819	synonymous_variant	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112174762C>T	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.1668C>T	12.37:g.112174762C>T						ACAD10_uc001tsp.2_Silent_p.F556F|ACAD10_uc009zvx.2_Silent_p.F587F|ACAD10_uc001tss.1_RNA	p.F556F	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN			12	1868	+			556					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Silent	SNP	ENST00000313698.4	37	c.1668C>T	CCDS31903.1																																																																																				0.527	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1		NM_025247		33	32	0	0	0	0.003755	0	33	32		
HECTD4	283450	broad.mit.edu	37	12	112605677	112605677	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:112605677G>A	ENST00000430131.2	-	70	12132	c.10987C>T	c.(10987-10989)Cag>Tag	p.Q3663*	HECTD4_ENST00000550722.1_Nonsense_Mutation_p.Q3939*|HECTD4_ENST00000377560.5_Nonsense_Mutation_p.Q3913*			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3663	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.Q3663*(1)|p.Q3913*(1)									GAGGAACTCTGCAGCTCCTTA	0.642																																						uc009zwc.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(1)|lung(1)	2						c.(10987-10989)CAG>TAG		chromosome 12 open reading frame 51							45.0	54.0	51.0					12																	112605677		2038	4202	6240	SO:0001587	stop_gained	283450							g.chr12:112605677G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.10987C>T	12.37:g.112605677G>A	ENSP00000404379:p.Gln3663*						p.Q3663*	NM_001109662	NP_001103132					64	11005	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Nonsense_Mutation	SNP	ENST00000430131.2	37	c.10987C>T		.	.	.	.	.	.	.	.	.	.	G	40	8.367133	0.98779	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000547085	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.2888	0.94090	0.0:0.0:1.0:0.0	.	.	.	.	X	3913;3663;3939;128	.	ENSP00000366783:Q3913X	Q	-	1	0	C12orf51	111090060	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.435000	0.80391	2.586000	0.87340	0.491000	0.48974	CAG		0.642	HECTD4-202	KNOWN	basic	protein_coding	protein_coding			NM_173813		12	51	0	0	0	0.001855	0	12	51		
IQCD	115811	broad.mit.edu	37	12	113633634	113633634	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:113633634T>A	ENST00000416617.2	-	5	1286	c.1096A>T	c.(1096-1098)Agg>Tgg	p.R366W	IQCD_ENST00000299732.2_Missense_Mutation_p.R264W			Q96DY2	IQCD_HUMAN	IQ motif containing D	366								p.R264W(1)		endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TGCCTCCGCCTGAGCTCCTCC	0.597																																						uc001tuu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(790-792)AGG>TGG		IQ motif containing D							90.0	82.0	85.0					12																	113633634		2203	4300	6503	SO:0001583	missense	115811							g.chr12:113633634T>A	BC013151	CCDS9167.1	12q24.21	2014-07-18				ENSG00000166578			25168	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 10"""					23427265, 24804578	Standard	NM_138451		Approved	DRC10, CFAP84	uc001tuu.3	Q96DY2		ENST00000416617.2:c.1096A>T	12.37:g.113633634T>A	ENSP00000400669:p.Arg366Trp						p.R264W	NM_138451	NP_612460	Q96DY2	IQCD_HUMAN			3	962	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q6ZSU0	Missense_Mutation	SNP	ENST00000416617.2	37	c.790A>T		.	.	.	.	.	.	.	.	.	.	T	11.44	1.639077	0.29157	.	.	ENSG00000166578	ENST00000299732;ENST00000416617	T;T	0.45276	2.94;0.9	4.29	-4.04	0.04010	.	.	.	.	.	T	0.50274	0.1606	.	.	.	0.25872	N	0.983692	D	0.53885	0.963	P	0.51297	0.665	T	0.58923	-0.7550	8	0.59425	D	0.04	-1.1158	19.0066	0.92854	0.0:0.0:0.8073:0.1927	.	264	Q96DY2-2	.	W	264;366	ENSP00000299732:R264W;ENSP00000400669:R366W	ENSP00000299732:R264W	R	-	1	2	IQCD	112118017	0.174000	0.23070	0.011000	0.14972	0.008000	0.06430	0.301000	0.19174	-0.965000	0.03591	-0.488000	0.04728	AGG		0.597	IQCD-004	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000405327.1		NM_138451		4	93	0	0	0	0.009096	0	4	93		
FBXO21	23014	broad.mit.edu	37	12	117627036	117627036	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:117627036T>A	ENST00000330622.5	-	2	370	c.371A>T	c.(370-372)gAg>gTg	p.E124V	FBXO21_ENST00000549689.1_5'Flank|FBXO21_ENST00000427718.2_Missense_Mutation_p.E124V			O94952	FBX21_HUMAN	F-box protein 21	124					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)	p.E124V(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		CCTTACGTGCTCTGAAAAGAA	0.478																																					GBM(168;452 2038 13535 17701 43680)	uc001twk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(1)	1						c.(370-372)GAG>GTG		F-box only protein 21 isoform 1							169.0	144.0	153.0					12																	117627036		2203	4300	6503	SO:0001583	missense	23014				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr12:117627036T>A	AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.371A>T	12.37:g.117627036T>A	ENSP00000328187:p.Glu124Val					FBXO21_uc001twj.2_Missense_Mutation_p.E124V|FBXO21_uc009zwq.2_Missense_Mutation_p.E124V	p.E124V	NM_033624	NP_296373	O94952	FBX21_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0291)	2	410	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		124					B3KMF0|Q5BJG0|Q9H087	Missense_Mutation	SNP	ENST00000330622.5	37	c.371A>T	CCDS9184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.5|25.5	4.642488|4.642488	0.87859|0.87859	.|.	.|.	ENSG00000135108|ENSG00000135108	ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622|ENST00000550180	T;T|.	0.48522|.	0.82;0.81|.	4.95|4.95	4.95|4.95	0.65309|0.65309	F-box domain, Skp2-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69548|0.69548	0.3123|0.3123	L|L	0.60455|0.60455	1.87|1.87	0.54753|0.54753	D|D	0.99998|0.99998	D;D;P|.	0.71674|.	0.958;0.998;0.879|.	P;D;P|.	0.73708|.	0.471;0.981;0.583|.	T|T	0.68872|0.68872	-0.5294|-0.5294	10|5	0.30854|.	T|.	0.27|.	-3.8135|-3.8135	14.5742|14.5742	0.68235|0.68235	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	40;124;124|.	Q8IUQ5;O94952;O94952-1|.	.;FBX21_HUMAN;.|.	V|S	124;40;40;124|67	ENSP00000414468:E124V;ENSP00000328187:E124V|.	ENSP00000257563:E40V|.	E|R	-|-	2|3	0|2	FBXO21|FBXO21	116111419|116111419	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	5.568000|5.568000	0.67385|0.67385	1.978000|1.978000	0.57642|0.57642	0.533000|0.533000	0.62120|0.62120	GAG|AGA		0.478	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1		NM_033624		6	79	0	0	0	0.001168	0	6	79		
FBXO21	23014	broad.mit.edu	37	12	117627039	117627039	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:117627039G>A	ENST00000330622.5	-	2	367	c.368C>T	c.(367-369)tCa>tTa	p.S123L	FBXO21_ENST00000549689.1_5'Flank|FBXO21_ENST00000427718.2_Missense_Mutation_p.S123L			O94952	FBX21_HUMAN	F-box protein 21	123					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)	p.S123L(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		TACGTGCTCTGAAAAGAACCT	0.483																																					GBM(168;452 2038 13535 17701 43680)	uc001twk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(1)	1						c.(367-369)TCA>TTA		F-box only protein 21 isoform 1							173.0	148.0	157.0					12																	117627039		2203	4300	6503	SO:0001583	missense	23014				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr12:117627039G>A	AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.368C>T	12.37:g.117627039G>A	ENSP00000328187:p.Ser123Leu					FBXO21_uc001twj.2_Missense_Mutation_p.S123L|FBXO21_uc009zwq.2_Missense_Mutation_p.S123L	p.S123L	NM_033624	NP_296373	O94952	FBX21_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0291)	2	407	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		123					B3KMF0|Q5BJG0|Q9H087	Missense_Mutation	SNP	ENST00000330622.5	37	c.368C>T	CCDS9184.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504919	0.64410	.	.	ENSG00000135108	ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622	T;T	0.44482	0.93;0.92	4.95	4.95	0.65309	F-box domain, Skp2-like (1);	0.078878	0.53938	D	0.000047	T	0.28267	0.0698	L	0.36672	1.1	0.41428	D	0.987842	B;P;B	0.34724	0.329;0.465;0.162	B;B;B	0.30646	0.065;0.118;0.063	T	0.06481	-1.0824	10	0.10636	T	0.68	-7.3413	11.6538	0.51306	0.0828:0.0:0.9172:0.0	.	39;123;123	Q8IUQ5;O94952;O94952-1	.;FBX21_HUMAN;.	L	123;39;39;123	ENSP00000414468:S123L;ENSP00000328187:S123L	ENSP00000257563:S39L	S	-	2	0	FBXO21	116111422	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.125000	0.64715	2.442000	0.82660	0.655000	0.94253	TCA		0.483	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1		NM_033624		7	77	0	0	0	0.001984	0	7	77		
GCN1L1	10985	broad.mit.edu	37	12	120568496	120568496	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:120568496G>C	ENST00000300648.6	-	56	7637	c.7625C>G	c.(7624-7626)aCa>aGa	p.T2542R		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2542					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)	p.T2542R(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCCTCCGCCTGTCTCGATGTG	0.602																																						uc001txo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)	4						c.(7624-7626)ACA>AGA		GCN1 general control of amino-acid synthesis							66.0	68.0	68.0					12																	120568496		1965	4136	6101	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120568496G>C	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.7625C>G	12.37:g.120568496G>C	ENSP00000300648:p.Thr2542Arg						p.T2542R	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			56	7638	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		2542					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.7625C>G	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.785818	0.49997	.	.	ENSG00000089154	ENST00000300648	T	0.43294	0.95	5.34	5.34	0.76211	Armadillo-like helical (1);Armadillo-type fold (1);	0.282470	0.34178	N	0.004185	T	0.41719	0.1171	L	0.50333	1.59	0.36571	D	0.872996	B	0.23735	0.09	B	0.21360	0.034	T	0.47315	-0.9127	10	0.54805	T	0.06	-11.4682	17.8302	0.88680	0.0:0.0:1.0:0.0	.	2542	Q92616	GCN1L_HUMAN	R	2542	ENSP00000300648:T2542R	ENSP00000300648:T2542R	T	-	2	0	GCN1L1	119052879	0.952000	0.32445	0.992000	0.48379	0.796000	0.44982	4.713000	0.61895	2.499000	0.84300	0.650000	0.86243	ACA		0.602	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1				16	36	0	0	0	0.00499	0	16	36		
GCN1L1	10985	broad.mit.edu	37	12	120611536	120611536	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:120611536G>C	ENST00000300648.6	-	14	1299	c.1287C>G	c.(1285-1287)ttC>ttG	p.F429L	AC004812.1_ENST00000582675.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	429					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)	p.F429L(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGCTTTTTTGAACCATTCAG	0.517																																						uc001txo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)	4						c.(1285-1287)TTC>TTG		GCN1 general control of amino-acid synthesis							89.0	85.0	87.0					12																	120611536		1961	4155	6116	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120611536G>C	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.1287C>G	12.37:g.120611536G>C	ENSP00000300648:p.Phe429Leu						p.F429L	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			14	1300	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		429					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.1287C>G	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.837169	0.32513	.	.	ENSG00000089154	ENST00000300648	T	0.03689	3.84	5.14	2.04	0.26737	Armadillo-like helical (1);Domain of unknown function DUF3554 (1);Armadillo-type fold (1);	0.180017	0.48286	D	0.000199	T	0.02888	0.0086	L	0.34521	1.04	0.53688	D	0.999974	B	0.17038	0.02	B	0.21917	0.037	T	0.49293	-0.8955	10	0.32370	T	0.25	.	3.9264	0.09265	0.2207:0.164:0.5164:0.0988	.	429	Q92616	GCN1L_HUMAN	L	429	ENSP00000300648:F429L	ENSP00000300648:F429L	F	-	3	2	GCN1L1	119095919	0.906000	0.30813	1.000000	0.80357	0.997000	0.91878	-0.082000	0.11304	0.559000	0.29153	0.557000	0.71058	TTC		0.517	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1				4	39	0	0	0	0.000602	0	4	39		
COQ5	84274	broad.mit.edu	37	12	120942706	120942706	+	Silent	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:120942706G>C	ENST00000288532.6	-	5	802	c.762C>G	c.(760-762)ctC>ctG	p.L254L	COQ5_ENST00000445328.2_Silent_p.L180L|Y_RNA_ENST00000410669.1_RNA	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	254					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)	p.L254L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCTGGATATGAGGGGATTGT	0.458																																						uc001tyn.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(760-762)CTC>CTG		coenzyme Q5 homolog, methyltransferase							140.0	117.0	125.0					12																	120942706		2203	4300	6503	SO:0001819	synonymous_variant	84274				ubiquinone biosynthetic process	mitochondrion	methyltransferase activity	g.chr12:120942706G>C	AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"""2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"""		"""coenzyme Q5 homolog, methyltransferase (yeast)"""				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.762C>G	12.37:g.120942706G>C						COQ5_uc001tyo.2_Silent_p.L173L|COQ5_uc010szj.1_Silent_p.L180L	p.L254L	NM_032314	NP_115690	Q5HYK3	COQ5_HUMAN			5	782	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		254					B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Silent	SNP	ENST00000288532.6	37	c.762C>G	CCDS31912.1																																																																																				0.458	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403767.2		NM_032314		8	35	0	0	0	0.004482	0	8	35		
FZD10	11211	broad.mit.edu	37	12	130648250	130648250	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:130648250C>G	ENST00000229030.4	+	1	1247	c.763C>G	c.(763-765)Cgc>Ggc	p.R255G	FZD10_ENST00000539839.1_Missense_Mutation_p.P222R|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	255					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R255G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CGACCCGGCCCGCTTCCGCTA	0.647																																						uc001uii.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(3)|breast(1)|central_nervous_system(1)	5						c.(763-765)CGC>GGC		frizzled 10 precursor							112.0	101.0	105.0					12																	130648250		2203	4300	6503	SO:0001583	missense	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130648250C>G	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.763C>G	12.37:g.130648250C>G	ENSP00000229030:p.Arg255Gly					uc001uig.1_5'Flank|uc001uih.1_5'Flank	p.R255G	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	1219	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		255			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000229030.4	37	c.763C>G	CCDS9267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.271|9.271	1.045715|1.045715	0.19748|0.19748	.|.	.|.	ENSG00000111432|ENSG00000111432	ENST00000539839|ENST00000229030	.|D	.|0.84442	.|-1.85	4.96|4.96	4.06|4.06	0.47325|0.47325	.|GPCR, family 2-like (1);	.|0.000000	.|0.64402	.|U	.|0.000001	D|D	0.94009|0.94009	0.8081|0.8081	M|M	0.93939|0.93939	3.475|3.475	0.58432|0.58432	D|D	0.999995|0.999995	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.95212|0.95212	0.8326|0.8326	6|10	0.87932|0.87932	D|D	0|0	.|.	14.7098|14.7098	0.69222|0.69222	0.1461:0.8539:0.0:0.0|0.1461:0.8539:0.0:0.0	.|.	.|255	.|Q9ULW2	.|FZD10_HUMAN	R|G	222|255	.|ENSP00000229030:R255G	ENSP00000438460:P222R|ENSP00000229030:R255G	P|R	+|+	2|1	0|0	FZD10|FZD10	129214203|129214203	1.000000|1.000000	0.71417|0.71417	0.678000|0.678000	0.29963|0.29963	0.989000|0.989000	0.77384|0.77384	3.672000|3.672000	0.54583|0.54583	1.060000|1.060000	0.40578|0.40578	0.561000|0.561000	0.74099|0.74099	CCG|CGC		0.647	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					41	58	0	0	0	0.010771	0	41	58		
ZNF10	7556	broad.mit.edu	37	12	133732756	133732756	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:133732756C>T	ENST00000248211.6	+	5	1146	c.924C>T	c.(922-924)ctC>ctT	p.L308L	ZNF10_ENST00000402932.2_Silent_p.L174L|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000426665.2_Silent_p.L308L|ZNF268_ENST00000416488.1_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	308					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.L308L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GTTCTCACCTCATTGGACATC	0.428																																						uc009zzb.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(1)|central_nervous_system(1)|skin(1)	3						c.(922-924)CTC>CTT		zinc finger protein 10							81.0	88.0	85.0					12																	133732756		2203	4300	6503	SO:0001819	synonymous_variant	7556				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:133732756C>T	X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"""Zinc fingers, C2H2-type"", ""-"""	12879	protein-coding gene	gene with protein product		194538	"""zinc finger protein 10 (KOX 1)"""			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.924C>T	12.37:g.133732756C>T						ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Silent_p.L308L	p.L308L	NM_015394	NP_056209	P21506	ZNF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	5	1371	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)	308			C2H2-type 3.		B2RBS1|Q8TC91	Silent	SNP	ENST00000248211.6	37	c.924C>T	CCDS9283.1																																																																																				0.428	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1		NM_015394		38	60	0	0	0	0.004878	0	38	60		
SACS	26278	broad.mit.edu	37	13	23930096	23930096	+	Nonsense_Mutation	SNP	G	G	A	rs146784878		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr13:23930096G>A	ENST00000382292.3	-	7	928	c.655C>T	c.(655-657)Caa>Taa	p.Q219*	SACS_ENST00000382298.3_Nonsense_Mutation_p.Q219*|SACS_ENST00000402364.1_5'UTR|SACS_ENST00000476776.1_5'Flank			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	219					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.Q72*(1)|p.Q219*(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAAAGTGTTTGATGAGGATCT	0.378																																						uc001uon.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(655-657)CAA>TAA		sacsin							63.0	59.0	60.0					13																	23930096		2203	4300	6503	SO:0001587	stop_gained	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23930096G>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.655C>T	13.37:g.23930096G>A	ENSP00000371729:p.Gln219*					SACS_uc001uoo.2_Nonsense_Mutation_p.Q72*|SACS_uc001uop.1_Nonsense_Mutation_p.Q6*|SACS_uc001uoq.1_Nonsense_Mutation_p.Q72*	p.Q219*	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	8	1244	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	219					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Nonsense_Mutation	SNP	ENST00000382292.3	37	c.655C>T	CCDS9300.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.159382|8.159382	0.98683|0.98683	.|.	.|.	ENSG00000151835|ENSG00000151835	ENST00000382292;ENST00000382298|ENST00000455470	.|.	.|.	.|.	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80325	.|0.4602	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77742	.|-0.2474	.|3	0.32370|.	T|.	0.25|.	.|.	20.3736|20.3736	0.98901|0.98901	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	219|118	.|.	ENSP00000371729:Q219X|.	Q|S	-|-	1|2	0|0	SACS|SACS	22828096|22828096	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.876000|7.876000	0.87215|0.87215	2.820000|2.820000	0.97059|0.97059	0.650000|0.650000	0.86243|0.86243	CAA|TCA		0.378	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3		NM_014363		11	11	0	0	0	0.008291	0	11	11		
VWA8	23078	broad.mit.edu	37	13	42259229	42259229	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr13:42259229C>A	ENST00000379310.3	-	35	4349	c.4281G>T	c.(4279-4281)agG>agT	p.R1427S		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1427						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R1427S(1)									GGGGTAAAATCCTCACTACCT	0.398																																						uc001uyj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6						c.(4279-4281)AGG>AGT		hypothetical protein LOC23078 isoform a							144.0	127.0	132.0					13																	42259229		1828	4083	5911	SO:0001583	missense	23078					extracellular region	ATP binding|ATPase activity	g.chr13:42259229C>A	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.4281G>T	13.37:g.42259229C>A	ENSP00000368612:p.Arg1427Ser						p.R1427S	NM_015058	NP_055873	A3KMH1	K0564_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)	35	4351	-		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)	1427					O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.4281G>T	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817167	0.50633	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.13420	2.59	5.16	1.93	0.25924	.	0.000000	0.85682	D	0.000000	T	0.27559	0.0677	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.01349	-1.1378	10	0.87932	D	0	.	7.2945	0.26385	0.0:0.6042:0.0:0.3958	.	1427	A3KMH1	K0564_HUMAN	S	1331;1427	ENSP00000368612:R1427S	ENSP00000251030:R1331S	R	-	3	2	KIAA0564	41157229	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	0.934000	0.28910	0.664000	0.31047	0.650000	0.86243	AGG		0.398	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2		NM_015058		34	32	1	0	1.22384e-17	0.013726	1.48477e-17	34	32		
FOXG1	2290	broad.mit.edu	37	14	29237689	29237689	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:29237689C>T	ENST00000313071.4	+	1	1403	c.1204C>T	c.(1204-1206)Ctc>Ttc	p.L402F	FOXG1_ENST00000382535.3_Missense_Mutation_p.L402F	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	402	Interaction with KDM5B.				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.L402F(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)		GACCTACTCCCTCAACCCCTG	0.672																																						uc001wqe.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(2)	4						c.(1204-1206)CTC>TTC		forkhead box G1							46.0	37.0	40.0					14																	29237689		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.chr14:29237689C>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.1204C>T	14.37:g.29237689C>T	ENSP00000339004:p.Leu402Phe						p.L402F	NM_005249	NP_005240	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	1	1403	+			402			Interaction with KDM5B.		A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.1204C>T	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587912	0.46110	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.94280	-3.39;-3.39	4.14	4.14	0.48551	.	0.394179	0.22219	U	0.062983	D	0.92120	0.7502	N	0.19112	0.55	0.46078	D	0.998859	D	0.65815	0.995	P	0.56278	0.795	D	0.92850	0.6296	10	0.48119	T	0.1	.	16.7792	0.85559	0.0:1.0:0.0:0.0	.	402	P55316	FOXG1_HUMAN	F	402	ENSP00000371975:L402F;ENSP00000339004:L402F	ENSP00000339004:L402F	L	+	1	0	FOXG1	28307440	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	1.524000	0.35942	2.006000	0.58801	0.491000	0.48974	CTC		0.672	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3				3	19	0	0	0	0.004672	0	3	19		
PRKD1	5587	broad.mit.edu	37	14	30066873	30066873	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:30066873T>C	ENST00000331968.5	-	16	2487	c.2258A>G	c.(2257-2259)gAg>gGg	p.E753G	PRKD1_ENST00000415220.2_Missense_Mutation_p.E761G	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	753	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|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 histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.E753G(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CCTTAGGACCTCAGGAGCCAG	0.488																																						uc001wqh.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(2257-2259)GAG>GGG		protein kinase D1							111.0	108.0	109.0					14																	30066873		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30066873T>C		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2258A>G	14.37:g.30066873T>C	ENSP00000333568:p.Glu753Gly						p.E753G	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	16	2439	-	Hepatocellular(127;0.0604)		753			Protein kinase.		A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.2258A>G	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.818536	0.90790	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	D;D	0.95622	-3.76;-3.76	5.72	5.72	0.89469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98947	0.9642	H	0.99758	4.755	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99164	1.0862	10	0.87932	D	0	-24.7772	16.3035	0.82836	0.0:0.0:0.0:1.0	.	753	Q15139	KPCD1_HUMAN	G	753;761	ENSP00000333568:E753G;ENSP00000390535:E761G	ENSP00000333568:E753G	E	-	2	0	PRKD1	29136624	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.997000	0.88414	2.299000	0.77371	0.528000	0.53228	GAG		0.488	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2		NM_002742		20	63	0	0	0	0.012319	0	20	63		
NPAS3	64067	broad.mit.edu	37	14	34269591	34269591	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:34269591C>G	ENST00000356141.4	+	12	2078	c.2078C>G	c.(2077-2079)tCc>tGc	p.S693C	NPAS3_ENST00000551492.1_Missense_Mutation_p.S698C|NPAS3_ENST00000346562.2_Missense_Mutation_p.S661C|NPAS3_ENST00000548645.1_Missense_Mutation_p.S663C|NPAS3_ENST00000357798.5_Missense_Mutation_p.S680C			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	693					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.S661C(1)|p.S680C(1)|p.S693C(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CACTTCCCGTCCCCGCAGGGC	0.721																																						uc001wru.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	ovary(1)|skin(1)	2						c.(2077-2079)TCC>TGC		neuronal PAS domain protein 3 isoform 3							31.0	35.0	34.0					14																	34269591		2197	4294	6491	SO:0001583	missense	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34269591C>G	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.2078C>G	14.37:g.34269591C>G	ENSP00000348460:p.Ser693Cys					NPAS3_uc001wrs.2_Missense_Mutation_p.S680C|NPAS3_uc001wrt.2_Missense_Mutation_p.S661C|NPAS3_uc001wrv.2_Missense_Mutation_p.S663C	p.S693C	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	12	2142	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		693					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	37	c.2078C>G	CCDS53891.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302002	0.60195	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.71817	-0.6;3.14;3.15;3.14;3.14;3.0	4.97	4.97	0.65823	.	0.202447	0.44285	D	0.000474	T	0.72293	0.3442	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.65815	0.995;0.992;0.995;0.995	P;P;P;P	0.58873	0.847;0.707;0.847;0.847	T	0.77531	-0.2553	10	0.72032	D	0.01	.	18.2226	0.89906	0.0:1.0:0.0:0.0	.	663;693;661;680	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	C	667;698;661;663;693;680	ENSP00000448373:S667C;ENSP00000450392:S698C;ENSP00000319610:S661C;ENSP00000448916:S663C;ENSP00000348460:S693C;ENSP00000350446:S680C	ENSP00000319610:S661C	S	+	2	0	NPAS3	33339342	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.455000	0.80726	2.270000	0.75569	0.555000	0.69702	TCC		0.721	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1				12	26	0	0	0	0.013537	0	12	26		
NIN	51199	broad.mit.edu	37	14	51204963	51204963	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:51204963T>A	ENST00000382041.3	-	27	5860	c.5670A>T	c.(5668-5670)aaA>aaT	p.K1890N	NIN_ENST00000382043.4_Missense_Mutation_p.K1177N|NIN_ENST00000530997.2_Missense_Mutation_p.K1890N|NIN_ENST00000453196.1_Missense_Mutation_p.K1890N|NIN_ENST00000245441.5_Missense_Mutation_p.K1890N|NIN_ENST00000389868.3_Missense_Mutation_p.K1177N|NIN_ENST00000324330.9_Missense_Mutation_p.K1890N	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1890					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.K1890N(2)|p.K1896N(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GGTTTAGATGTTTTTGGTGCT	0.403			T	PDGFRB	MPD																																	uc001wym.2		NaN		Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		3	Substitution - Missense(3)		urinary_tract(3)	skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6						c.(5668-5670)AAA>AAT		ninein isoform 5							213.0	188.0	196.0					14																	51204963		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51204963T>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.5670A>T	14.37:g.51204963T>A	ENSP00000371472:p.Lys1890Asn					NIN_uc001wyi.2_Missense_Mutation_p.K1890N|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.K1177N|NIN_uc010tqp.1_Missense_Mutation_p.K1896N|NIN_uc001wyo.2_Missense_Mutation_p.K1890N|NIN_uc001wyn.2_RNA	p.K1890N	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN			27	5861	-	all_epithelial(31;0.00244)|Breast(41;0.127)		1890					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.5670A>T	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.11|18.11	3.551251|3.551251	0.65311|0.65311	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T;T;T|.	0.16073|.	3.22;2.37;2.44;2.93;2.87;2.85|.	5.72|5.72	2.0|2.0	0.26442|0.26442	.|.	0.278406|.	0.37761|.	N|.	0.001945|.	T|T	0.57829|0.57829	0.2080|0.2080	M|M	0.69823|0.69823	2.125|2.125	0.33195|0.33195	D|D	0.551356|0.551356	D;D;D;D;D|.	0.62365|.	0.991;0.984;0.989;0.988;0.989|.	P;P;P;P;P|.	0.61275|.	0.886;0.839;0.776;0.715;0.836|.	T|T	0.63708|0.63708	-0.6576|-0.6576	10|5	0.54805|.	T|.	0.06|.	-13.6143|-13.6143	8.5792|8.5792	0.33617|0.33617	0.0:0.4011:0.0:0.5989|0.0:0.4011:0.0:0.5989	.|.	1896;1890;1890;1177;1890|.	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7|.	.;.;NIN_HUMAN;.;.|.	N|S	1890;1873;1177;1177;1896;1890;1890;1890|1381	ENSP00000245441:K1890N;ENSP00000374518:K1177N;ENSP00000371474:K1177N;ENSP00000371472:K1890N;ENSP00000324210:K1890N;ENSP00000412391:K1890N|.	ENSP00000245441:K1890N|.	K|T	-|-	3|1	2|0	NIN|NIN	50274713|50274713	0.982000|0.982000	0.34865|0.34865	0.992000|0.992000	0.48379|0.48379	0.957000|0.957000	0.61999|0.61999	-0.002000|-0.002000	0.12924|0.12924	0.159000|0.159000	0.19401|0.19401	0.460000|0.460000	0.39030|0.39030	AAA|ACA		0.403	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2		NM_182946		37	84	0	0	0	0.004289	0	37	84		
FRMD6	122786	broad.mit.edu	37	14	52167842	52167842	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:52167842G>A	ENST00000344768.5	+	4	455	c.259G>A	c.(259-261)Gag>Aag	p.E87K	FRMD6_ENST00000554167.1_Missense_Mutation_p.E18K|FRMD6_ENST00000395718.2_Missense_Mutation_p.E87K|FRMD6_ENST00000356218.4_Missense_Mutation_p.E87K			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	87	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.E87K(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					ATGGAAGAAAGAGGCCAGCAA	0.303																																						uc001wzd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(259-261)GAG>AAG		FERM domain containing 6							44.0	44.0	44.0					14																	52167842		2201	4298	6499	SO:0001583	missense	122786					cytoskeleton|mitochondrion|plasma membrane	binding	g.chr14:52167842G>A	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.259G>A	14.37:g.52167842G>A	ENSP00000343899:p.Glu87Lys					FRMD6_uc001wzb.2_Missense_Mutation_p.E87K|FRMD6_uc001wzc.2_Missense_Mutation_p.E87K|FRMD6_uc001wze.2_Missense_Mutation_p.E18K	p.E87K	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN			4	544	+	all_epithelial(31;0.0163)|Breast(41;0.089)		87			FERM.		D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	ENST00000344768.5	37	c.259G>A	CCDS58318.1	.	.	.	.	.	.	.	.	.	.	G	35	5.465568	0.96257	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000555936;ENST00000554167	T;T;T;T;T	0.78003	-1.14;-1.14;-0.94;0.87;-0.75	5.71	5.71	0.89125	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.043841	0.85682	D	0.000000	D	0.85940	0.5814	L	0.55990	1.75	0.80722	D	1	D;D;D	0.67145	0.984;0.976;0.996	P;D;D	0.67382	0.888;0.95;0.951	D	0.85887	0.1426	10	0.59425	D	0.04	.	19.8394	0.96677	0.0:0.0:1.0:0.0	.	18;87;87	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	K	87;87;87;18;18	ENSP00000348550:E87K;ENSP00000379068:E87K;ENSP00000343899:E87K;ENSP00000451453:E18K;ENSP00000451977:E18K	ENSP00000343899:E87K	E	+	1	0	FRMD6	51237592	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.723000	0.98772	2.692000	0.91855	0.650000	0.86243	GAG		0.303	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1		NM_152330		3	10	0	0	0	0.009096	0	3	10		
PCNX	22990	broad.mit.edu	37	14	71540497	71540497	+	Silent	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:71540497C>G	ENST00000304743.2	+	27	5534	c.5088C>G	c.(5086-5088)ctC>ctG	p.L1696L	PCNX_ENST00000238570.5_Silent_p.L1624L|PCNX_ENST00000439984.3_Silent_p.L1585L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1696						integral component of membrane (GO:0016021)		p.L1696L(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGAAAGTACTCACCACTTACT	0.363																																						uc001xmo.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(5086-5088)CTC>CTG		pecanex-like 1							174.0	167.0	169.0					14																	71540497		2203	4300	6503	SO:0001819	synonymous_variant	22990					integral to membrane		g.chr14:71540497C>G	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.5088C>G	14.37:g.71540497C>G						PCNX_uc010are.1_Silent_p.L1585L|PCNX_uc010arf.1_Silent_p.L484L	p.L1696L	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	27	5534	+			1696					B2RTR6|O94897|Q96AI7|Q9Y2J9	Silent	SNP	ENST00000304743.2	37	c.5088C>G	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	7.254	0.603918	0.14002	.	.	ENSG00000100731	ENST00000554691	.	.	.	4.97	0.98	0.19750	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5619	0.22491	0.0:0.6482:0.1301:0.2217	.	.	.	.	X	683	.	.	S	+	2	0	PCNX	70610250	0.861000	0.29849	0.998000	0.56505	0.984000	0.73092	-0.004000	0.12878	0.074000	0.16767	0.650000	0.86243	TCA		0.363	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1		NM_014982		28	84	0	0	0	0.012213	0	28	84		
SNW1	22938	broad.mit.edu	37	14	78184840	78184840	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:78184840C>T	ENST00000261531.7	-	13	1344	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	SNW1_ENST00000554775.1_Missense_Mutation_p.E266K|SNW1_ENST00000555761.1_Missense_Mutation_p.E428K|SLIRP_ENST00000557431.1_Intron|SLIRP_ENST00000557623.1_Intron	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	428					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)	p.E428K(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TTATAAATTTCATCTTCTCCA	0.363																																						uc001xuf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1282-1284)GAA>AAA		SKI-interacting protein							70.0	66.0	67.0					14																	78184840		2203	4300	6503	SO:0001583	missense	22938				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding	g.chr14:78184840C>T	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.1282G>A	14.37:g.78184840C>T	ENSP00000261531:p.Glu428Lys					SNW1_uc010tvm.1_Missense_Mutation_p.E353K|SNW1_uc010asu.2_Missense_Mutation_p.E266K|SNW1_uc010tvn.1_Missense_Mutation_p.E428K	p.E428K	NM_012245	NP_036377	Q13573	SNW1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	13	1309	-			428					A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	ENST00000261531.7	37	c.1282G>A	CCDS9867.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153402	0.94645	.	.	ENSG00000100603	ENST00000261531;ENST00000554775;ENST00000555761	.	.	.	5.67	5.67	0.87782	.	0.093188	0.64402	D	0.000001	D	0.83714	0.5314	M	0.83118	2.625	0.80722	D	1	P;D	0.63880	0.894;0.993	P;D	0.68192	0.688;0.956	D	0.85426	0.1146	9	0.87932	D	0	.	19.7701	0.96359	0.0:1.0:0.0:0.0	.	428;428	G3V3A4;Q13573	.;SNW1_HUMAN	K	428;266;428	.	ENSP00000261531:E428K	E	-	1	0	SNW1	77254593	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.452000	0.80683	2.690000	0.91761	0.460000	0.39030	GAA		0.363	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1		NM_012245		7	64	0	0	0	0.00308	0	7	64		
SEL1L	6400	broad.mit.edu	37	14	81946033	81946033	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:81946033C>A	ENST00000336735.4	-	20	2214	c.2098G>T	c.(2098-2100)Gat>Tat	p.D700Y		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	700	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.D700Y(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		ACTTGTGCATCTGGGCTGGCT	0.418																																						uc010tvv.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(2098-2100)GAT>TAT		sel-1 suppressor of lin-12-like precursor							90.0	88.0	89.0					14																	81946033		2203	4300	6503	SO:0001583	missense	6400				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr14:81946033C>A		CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"""sel-1 suppressor of lin-12-like 1 (C. elegans)"""	602329	"""sel-1 (suppressor of lin-12, C.elegans)-like"""			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.2098G>T	14.37:g.81946033C>A	ENSP00000337053:p.Asp700Tyr						p.D700Y	NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0299)	20	2215	-			700			Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.		Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	37	c.2098G>T	CCDS9876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.087836|5.087836	0.94100|0.94100	.|.	.|.	ENSG00000071537|ENSG00000071537	ENST00000336735|ENST00000261258	T|.	0.55930|.	0.49|.	6.04|6.04	6.04|6.04	0.98038|0.98038	Tetratricopeptide-like helical (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82504|0.82504	0.5051|0.5051	M|M	0.83483|0.83483	2.645|2.645	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.79783|0.79783	-0.1658|-0.1658	10|6	0.87932|0.35671	D|T	0|0.21	.|.	20.5948|20.5948	0.99439|0.99439	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	700|.	Q9UBV2|.	SE1L1_HUMAN|.	Y|I	700|60	ENSP00000337053:D700Y|.	ENSP00000337053:D700Y|ENSP00000261258:R60I	D|R	-|-	1|2	0|0	SEL1L|SEL1L	81015786|81015786	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.945000|0.945000	0.59286|0.59286	7.429000|7.429000	0.80309|0.80309	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	GAT|AGA		0.418	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1		NM_005065		6	60	1	0	2.0095e-06	0.001984	2.21813e-06	6	60		
GALC	2581	broad.mit.edu	37	14	88401080	88401080	+	Missense_Mutation	SNP	C	C	T	rs529469325	byFrequency	TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:88401080C>T	ENST00000261304.2	-	17	2160	c.2054G>A	c.(2053-2055)cGc>cAc	p.R685H	GALC_ENST00000393569.2_Missense_Mutation_p.R659H|GALC_ENST00000544807.2_Intron|GALC_ENST00000393568.4_Missense_Mutation_p.R662H	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	685					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)	p.R685H(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TAAGTATTAGCGTGTGGCTTC	0.403													C|||	2	0.000399361	0.0	0.0	5008	,	,		17107	0.0		0.0	False		,,,				2504	0.002					uc001xvt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(2053-2055)CGC>CAC		galactosylceramidase isoform a precursor							94.0	90.0	92.0					14																	88401080		1870	4108	5978	SO:0001583	missense	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88401080C>T	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.2054G>A	14.37:g.88401080C>T	ENSP00000261304:p.Arg685His					GALC_uc010tvw.1_Intron|GALC_uc010tvx.1_Missense_Mutation_p.R659H|GALC_uc010tvy.1_Missense_Mutation_p.R662H|GALC_uc010tvz.1_Intron	p.R685H	NM_000153	NP_000144	P54803	GALC_HUMAN			17	2453	-			685					B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Missense_Mutation	SNP	ENST00000261304.2	37	c.2054G>A	CCDS9878.2	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735307	0.30774	.	.	ENSG00000054983	ENST00000261304;ENST00000393569;ENST00000539620;ENST00000393568	D;D;D	0.95035	-3.59;-3.59;-3.59	5.07	-6.7	0.01766	.	2.370210	0.01097	N	0.005292	D	0.86611	0.5974	N	0.16478	0.41	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.76708	-0.2860	10	0.48119	T	0.1	.	4.2908	0.10878	0.1101:0.1901:0.1222:0.5776	.	662;659;685	E7EPA4;P54803-4;P54803	.;.;GALC_HUMAN	H	685;659;474;662	ENSP00000261304:R685H;ENSP00000377199:R659H;ENSP00000377198:R662H	ENSP00000261304:R685H	R	-	2	0	GALC	87470833	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.350000	0.02624	-1.647000	0.01511	-1.148000	0.01847	CGC		0.403	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2				6	78	0	0	0	0.001984	0	6	78		
UNC79	57578	broad.mit.edu	37	14	93944052	93944052	+	Silent	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:93944052A>G	ENST00000393151.2	+	4	597	c.597A>G	c.(595-597)acA>acG	p.T199T	UNC79_ENST00000553484.1_Silent_p.T199T|UNC79_ENST00000555664.1_Silent_p.T199T|UNC79_ENST00000256339.4_Silent_p.T22T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	199					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T199T(1)|p.T22T(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATCTTAGCACATCTTTTCTAC	0.343																																						uc001ybv.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(10)|skin(4)|large_intestine(3)	17						c.(64-66)ACA>ACG		hypothetical protein LOC57578							249.0	214.0	226.0					14																	93944052		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:93944052A>G	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.597A>G	14.37:g.93944052A>G						KIAA1409_uc001ybs.1_Silent_p.T22T|KIAA1409_uc001ybu.1_Silent_p.T22T	p.T22T	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	1	149	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	199					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.66A>G																																																																																					0.343	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1		XM_028395		47	99	0	0	0	0.01441	0	47	99		
EML1	2009	broad.mit.edu	37	14	100375681	100375681	+	Splice_Site	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:100375681G>C	ENST00000262233.6	+	11	1243		c.e11-1		EML1_ENST00000327921.9_Splice_Site|EML1_ENST00000334192.4_Splice_Site	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1						brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.?(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TTTTCCTATAGTGCTCTAATG	0.408																																						uc001ygs.2		NaN																	1	Unknown(1)		urinary_tract(1)	large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5						c.e11-1		echinoderm microtubule associated protein like 1							180.0	179.0	179.0					14																	100375681		2203	4300	6503	SO:0001630	splice_region_variant	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100375681G>C	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.1105-1G>C	14.37:g.100375681G>C						EML1_uc010avt.1_Splice_Site_p.C356_splice|EML1_uc010tww.1_Splice_Site_p.C357_splice|EML1_uc001ygq.2_Splice_Site_p.C388_splice|EML1_uc001ygr.2_Splice_Site_p.C388_splice	p.C369_splice	NM_004434	NP_004425	O00423	EMAL1_HUMAN			11	1174	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)						Q86U15|Q8N536|Q8N5C4|Q8WWL6	Splice_Site	SNP	ENST00000262233.6	37	c.1105_splice	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089445	0.76756	.	.	ENSG00000066629	ENST00000554479;ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138;ENST00000554386	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7108	0.91656	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EML1	99445434	1.000000	0.71417	0.985000	0.45067	0.855000	0.48748	9.684000	0.98659	2.425000	0.82216	0.655000	0.94253	.		0.408	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1		NM_001008707	Intron	9	124	0	0	0	0.006214	0	9	124		
SLC25A47	283600	broad.mit.edu	37	14	100792529	100792529	+	Silent	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:100792529C>A	ENST00000361529.3	+	3	186	c.108C>A	c.(106-108)atC>atA	p.I36I	SLC25A47_ENST00000557052.1_5'UTR	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	36					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.I36I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						ACACAGGCATCTGGCACTGCG	0.667																																					GBM(11;1289 1351)	uc001yhc.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(106-108)ATC>ATA		chromosome 14 open reading frame 68							61.0	50.0	54.0					14																	100792529		2203	4300	6503	SO:0001819	synonymous_variant	283600				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr14:100792529C>A		CCDS9959.1	14q32.2	2013-05-22	2010-07-19	2010-07-19	ENSG00000140107	ENSG00000140107		"""Solute carriers"""	20115	protein-coding gene	gene with protein product		609911	"""chromosome 14 open reading frame 68"""	C14orf68			Standard	NM_207117		Approved		uc001yhc.3	Q6Q0C1	OTTHUMG00000171571	ENST00000361529.3:c.108C>A	14.37:g.100792529C>A						C14orf68_uc001yhd.2_Translation_Start_Site	p.I36I	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN			3	181	+		Melanoma(154;0.152)	36			Solcar 1.		B2RP39|Q68CL2|Q6PZD8|Q86U14	Silent	SNP	ENST00000361529.3	37	c.108C>A	CCDS9959.1																																																																																				0.667	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414231.1				9	10	1	0	2.80697e-09	0.010729	3.23082e-09	9	10		
TECPR2	9895	broad.mit.edu	37	14	102904406	102904406	+	Silent	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:102904406C>A	ENST00000359520.7	+	10	2668	c.2442C>A	c.(2440-2442)ctC>ctA	p.L814L	TECPR2_ENST00000558678.1_Silent_p.L814L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	814					autophagy (GO:0006914)|cell death (GO:0008219)			p.L814L(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						ATGGCATCCTCAGCTTGGTGG	0.587											OREG0022547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ylw.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(1)|central_nervous_system(1)|skin(1)	3						c.(2440-2442)CTC>CTA		tectonin beta-propeller repeat containing 2							151.0	157.0	155.0					14																	102904406		2203	4300	6503	SO:0001819	synonymous_variant	9895						protein binding	g.chr14:102904406C>A	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.2442C>A	14.37:g.102904406C>A			OREG0022547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1370	TECPR2_uc010awl.2_Silent_p.L814L|TECPR2_uc010txx.1_Intron	p.L814L	NM_014844	NP_055659	O15040	TCPR2_HUMAN			10	2590	+			814					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Silent	SNP	ENST00000359520.7	37	c.2442C>A	CCDS32162.1																																																																																				0.587	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2		NM_014844		9	143	1	0	2.17888e-05	0.006214	2.35365e-05	9	143		
MGA	23269	broad.mit.edu	37	15	42041126	42041126	+	Splice_Site	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:42041126G>T	ENST00000570161.1	+	15	5503		c.e15+1		MGA_ENST00000566586.1_Splice_Site|MGA_ENST00000389936.4_Splice_Site|MGA_ENST00000219905.7_Splice_Site|MGA_ENST00000545763.1_Splice_Site			O43451	MGA_HUMAN	MGA, MAX dimerization protein						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.?(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CGGAACCCAGGTATAAAGTTC	0.403																																						uc010ucy.1		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.e16+1		MAX-interacting protein isoform 1							74.0	70.0	72.0					15																	42041126		1861	4095	5956	SO:0001630	splice_region_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42041126G>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5503+1G>T	15.37:g.42041126G>T						MGA_uc010ucz.1_Splice_Site_p.G1626_splice|MGA_uc010uda.1_Splice_Site_p.G451_splice|MGA_uc001zoi.2_Splice_Site_p.G49_splice	p.G1835_splice	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	16	5684	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)						Q0VAX6|Q75ME7|Q86UM5	Splice_Site	SNP	ENST00000570161.1	37	c.5503_splice	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087273	0.55968	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.422	0.99049	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MGA	39828418	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	7.842000	0.86851	2.832000	0.97577	0.655000	0.94253	.		0.403	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1		NM_001164273.1	Intron	36	21	1	0	1.836e-18	0.003755	2.24771e-18	36	21		
DMXL2	23312	broad.mit.edu	37	15	51773566	51773566	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:51773566T>C	ENST00000251076.5	-	24	6024	c.5737A>G	c.(5737-5739)Aaa>Gaa	p.K1913E	DMXL2_ENST00000449909.3_Missense_Mutation_p.K1277E|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.K1913E	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1913						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.K1913E(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GCAGATGTTTTGGTTACTTTT	0.383																																						uc002abf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)|skin(3)	9						c.(5737-5739)AAA>GAA		Dmx-like 2							181.0	175.0	177.0					15																	51773566		2196	4293	6489	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51773566T>C	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.5737A>G	15.37:g.51773566T>C	ENSP00000251076:p.Lys1913Glu					DMXL2_uc002abd.2_5'UTR|DMXL2_uc010ufy.1_Missense_Mutation_p.K1913E|DMXL2_uc010bfa.2_Missense_Mutation_p.K1277E	p.K1913E	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	24	5962	-			1913					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.5737A>G	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.884500	0.51908	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.24538	1.99;1.99;1.85	5.44	4.2	0.49525	.	0.139422	0.64402	D	0.000005	T	0.29749	0.0743	M	0.73962	2.25	0.38406	D	0.9458	P;P;P	0.48089	0.825;0.905;0.829	B;B;B	0.44224	0.214;0.444;0.183	T	0.16660	-1.0395	10	0.22109	T	0.4	.	9.4245	0.38572	0.0:0.1037:0.0:0.8963	.	1913;1277;1913	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	E	1913;1913;1277	ENSP00000251076:K1913E;ENSP00000441858:K1913E;ENSP00000400855:K1277E	ENSP00000251076:K1913E	K	-	1	0	DMXL2	49560858	1.000000	0.71417	0.960000	0.40013	0.995000	0.86356	3.889000	0.56212	0.771000	0.33359	0.528000	0.53228	AAA		0.383	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2		NM_015263		98	69	0	0	0	0.01441	0	98	69		
PYGO1	26108	broad.mit.edu	37	15	55839197	55839197	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:55839197T>C	ENST00000302000.6	-	3	378	c.284A>G	c.(283-285)tAt>tGt	p.Y95C	PYGO1_ENST00000563719.1_Missense_Mutation_p.Y95C	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	95	Pro-rich.				hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.Y95C(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		AAAGCCAGGATAACCAGGGCC	0.448																																						uc010bfl.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(283-285)TAT>TGT		pygopus homolog 1							112.0	102.0	105.0					15																	55839197		2193	4292	6485	SO:0001583	missense	26108				Wnt receptor signaling pathway	nucleus	zinc ion binding	g.chr15:55839197T>C	AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"""Zinc fingers, PHD-type"""	30256	protein-coding gene	gene with protein product		606902	"""pygopus homolog 1 (Drosophila)"""			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.284A>G	15.37:g.55839197T>C	ENSP00000302327:p.Tyr95Cys					PYGO1_uc002adf.1_Missense_Mutation_p.Y95C	p.Y95C	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN		all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)	3	340	-			95			Pro-rich.		A7Y2D6	Missense_Mutation	SNP	ENST00000302000.6	37	c.284A>G	CCDS10155.1	.	.	.	.	.	.	.	.	.	.	T	16.58	3.163586	0.57476	.	.	ENSG00000171016	ENST00000302000;ENST00000401688	T	0.49432	0.78	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.51312	0.1667	N	0.14661	0.345	0.53688	D	0.999977	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.995	T	0.55585	-0.8118	10	0.44086	T	0.13	-20.0837	14.6174	0.68558	0.0:0.0:0.0:1.0	.	95;95	A7Y2D6;Q9Y3Y4	.;PYGO1_HUMAN	C	95	ENSP00000302327:Y95C	ENSP00000302327:Y95C	Y	-	2	0	PYGO1	53626489	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.061000	0.71148	2.103000	0.63969	0.477000	0.44152	TAT		0.448	PYGO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254977.2		NM_015617		3	98	0	0	0	0.009096	0	3	98		
ZNF609	23060	broad.mit.edu	37	15	64966254	64966254	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:64966254A>C	ENST00000326648.3	+	4	1329	c.1201A>C	c.(1201-1203)Acc>Ccc	p.T401P	ZNF609_ENST00000559364.1_3'UTR|RNU6-549P_ENST00000384433.1_RNA	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	401						nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.T401P(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGCAGCAAAACCCGGGCAGG	0.587																																						uc002ann.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(1201-1203)ACC>CCC		zinc finger protein 609							89.0	91.0	90.0					15																	64966254		2203	4299	6502	SO:0001583	missense	23060					nucleus	zinc ion binding	g.chr15:64966254A>C	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.1201A>C	15.37:g.64966254A>C	ENSP00000316527:p.Thr401Pro						p.T401P	NM_015042	NP_055857	O15014	ZN609_HUMAN			4	1201	+			401					Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	c.1201A>C	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.626079	0.66901	.	.	ENSG00000180357	ENST00000326648	T	0.50548	0.74	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	M	0.63428	1.95	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.61811	-0.6986	10	0.27082	T	0.32	-10.91	15.7219	0.77718	1.0:0.0:0.0:0.0	.	401	O15014	ZN609_HUMAN	P	401	ENSP00000316527:T401P	ENSP00000316527:T401P	T	+	1	0	ZNF609	62753307	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.519000	0.81809	2.112000	0.64535	0.533000	0.62120	ACC		0.587	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1		XM_042833		4	124	0	0	0	0.001984	0	4	124		
DENND4A	10260	broad.mit.edu	37	15	66048786	66048786	+	Start_Codon_SNP	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:66048786C>T	ENST00000431932.2	-	3	211	c.3G>A	c.(1-3)atG>atA	p.M1I	DENND4A_ENST00000443035.3_Start_Codon_SNP_p.M1I	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.M1I(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TGTCTTCAATCATCTTCCATT	0.358																																						uc002aph.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(1-3)ATG>ATA		DENN/MADD domain containing 4A isoform 2							58.0	54.0	55.0					15																	66048786		1842	4098	5940	SO:0001582	initiator_codon_variant	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:66048786C>T	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.3G>A	15.37:g.66048786C>T	ENSP00000396830:p.Met1Ile					DENND4A_uc002api.2_Missense_Mutation_p.M1I|DENND4A_uc002apj.3_Missense_Mutation_p.M1I|DENND4A_uc010ujj.1_Missense_Mutation_p.M1I	p.M1I	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN			3	381	-			1					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.3G>A	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	32	5.129623	0.94473	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.07908	3.15;3.24	5.69	5.69	0.88448	.	0.043276	0.85682	D	0.000000	T	0.29190	0.0726	.	.	.	0.80722	D	1	D;D;D	0.60160	0.974;0.987;0.972	P;P;P	0.61070	0.677;0.883;0.829	T	0.00664	-1.1620	9	0.87932	D	0	.	19.8199	0.96589	0.0:1.0:0.0:0.0	.	1;1;1	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	I	1	ENSP00000391167:M1I;ENSP00000396830:M1I	ENSP00000396830:M1I	M	-	3	0	DENND4A	63835840	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.629000	0.83207	2.677000	0.91161	0.655000	0.94253	ATG		0.358	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1		NM_005848	Missense_Mutation	26	15	0	0	0	0.00632	0	26	15		
SCAMP5	192683	broad.mit.edu	37	15	75305046	75305046	+	Silent	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:75305046C>G	ENST00000361900.6	+	4	243	c.36C>G	c.(34-36)ccC>ccG	p.P12P	SCAMP5_ENST00000565923.1_3'UTR|SCAMP5_ENST00000425597.3_Silent_p.P12P|SCAMP5_ENST00000545456.1_5'UTR|SCAMP5_ENST00000562212.1_Silent_p.P12P	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	12					exocytosis (GO:0006887)|negative regulation of endocytosis (GO:0045806)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of cytokine secretion (GO:0050715)|protein transport (GO:0015031)|response to endoplasmic reticulum stress (GO:0034976)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)|trans-Golgi network membrane (GO:0032588)		p.P12P(2)		large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						CACCATTGCCCAAATTCATCC	0.512																																						uc002azk.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)	1						c.(34-36)CCC>CCG		secretory carrier membrane protein 5							96.0	102.0	100.0					15																	75305046		2060	4208	6268	SO:0001819	synonymous_variant	192683				exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding	g.chr15:75305046C>G	AL833230	CCDS45306.1	15q24.2	2014-05-20			ENSG00000198794	ENSG00000198794		"""Secretory carrier membrane proteins"""	30386	protein-coding gene	gene with protein product		613766				12477932	Standard	NM_001178111		Approved	MGC24969	uc002azk.2	Q8TAC9	OTTHUMG00000172704	ENST00000361900.6:c.36C>G	15.37:g.75305046C>G						SCAMP5_uc002azl.1_Silent_p.P12P|SCAMP5_uc002azm.1_Silent_p.P12P|SCAMP5_uc002azn.1_Silent_p.P12P|SCAMP5_uc010uly.1_5'UTR	p.P12P	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN			3	198	+			12			Cytoplasmic (Potential).		B3KPJ7|B7Z762|D3DW71|Q8N3M4	Silent	SNP	ENST00000361900.6	37	c.36C>G	CCDS45306.1																																																																																				0.512	SCAMP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420015.2		NM_138967		24	10	0	0	0	0.00278	0	24	10		
SCAMP5	192683	broad.mit.edu	37	15	75305073	75305073	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:75305073C>T	ENST00000361900.6	+	4	270	c.63C>T	c.(61-63)ttC>ttT	p.F21F	SCAMP5_ENST00000565923.1_3'UTR|SCAMP5_ENST00000425597.3_Silent_p.F21F|SCAMP5_ENST00000545456.1_Silent_p.L3L|SCAMP5_ENST00000562212.1_Silent_p.F21F	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	21					exocytosis (GO:0006887)|negative regulation of endocytosis (GO:0045806)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of cytokine secretion (GO:0050715)|protein transport (GO:0015031)|response to endoplasmic reticulum stress (GO:0034976)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)|trans-Golgi network membrane (GO:0032588)		p.F21F(2)		large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						AGCCATGTTTCTACCAAGACT	0.527																																						uc002azk.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)	1						c.(61-63)TTC>TTT		secretory carrier membrane protein 5							102.0	106.0	105.0					15																	75305073		2045	4199	6244	SO:0001819	synonymous_variant	192683				exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding	g.chr15:75305073C>T	AL833230	CCDS45306.1	15q24.2	2014-05-20			ENSG00000198794	ENSG00000198794		"""Secretory carrier membrane proteins"""	30386	protein-coding gene	gene with protein product		613766				12477932	Standard	NM_001178111		Approved	MGC24969	uc002azk.2	Q8TAC9	OTTHUMG00000172704	ENST00000361900.6:c.63C>T	15.37:g.75305073C>T						SCAMP5_uc002azl.1_Silent_p.F21F|SCAMP5_uc002azm.1_Silent_p.F21F|SCAMP5_uc002azn.1_Silent_p.F21F|SCAMP5_uc010uly.1_Silent_p.L3L	p.F21F	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN			3	225	+			21			Cytoplasmic (Potential).		B3KPJ7|B7Z762|D3DW71|Q8N3M4	Silent	SNP	ENST00000361900.6	37	c.63C>T	CCDS45306.1																																																																																				0.527	SCAMP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420015.2		NM_138967		18	15	0	0	0	0.006122	0	18	15		
IREB2	3658	broad.mit.edu	37	15	78758753	78758753	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:78758753G>T	ENST00000258886.8	+	5	700	c.551G>T	c.(550-552)gGc>gTc	p.G184V	IREB2_ENST00000560440.1_Missense_Mutation_p.G184V|IREB2_ENST00000559427.1_3'UTR	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	184					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)	p.G184V(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GGAGAACTAGGCCGAAACTCA	0.458																																					NSCLC(200;764 2208 35157 49871 50830)	uc002bdr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(550-552)GGC>GTC		iron-responsive element binding protein 2							122.0	119.0	120.0					15																	78758753		2196	4293	6489	SO:0001583	missense	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78758753G>T	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.551G>T	15.37:g.78758753G>T	ENSP00000258886:p.Gly184Val					IREB2_uc010unb.1_5'UTR|IREB2_uc002bdq.2_Missense_Mutation_p.G184V	p.G184V	NM_004136	NP_004127	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	5	713	+			184					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	c.551G>T	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347191	0.61183	.	.	ENSG00000136381	ENST00000258886	T	0.17528	2.27	6.08	5.12	0.69794	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (1);	0.280557	0.40640	N	0.001060	T	0.12561	0.0305	N	0.24115	0.695	0.58432	D	0.999997	B;B	0.24092	0.097;0.097	B;B	0.26770	0.073;0.073	T	0.04320	-1.0960	10	0.59425	D	0.04	.	10.2772	0.43517	0.0697:0.1365:0.7937:0.0	.	184;184	P48200;Q8WVK6	IREB2_HUMAN;.	V	184	ENSP00000258886:G184V	ENSP00000258886:G184V	G	+	2	0	IREB2	76545808	0.705000	0.27846	0.987000	0.45799	0.995000	0.86356	1.153000	0.31676	2.894000	0.99253	0.591000	0.81541	GGC		0.458	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3		NM_004136		8	41	1	0	0.000274275	0.004482	0.00028856	8	41		
MESDC2	23184	broad.mit.edu	37	15	81274291	81274291	+	Splice_Site	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:81274291C>G	ENST00000261758.4	-	2	532	c.446G>C	c.(445-447)aGg>aCg	p.R149T		NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	149	Chaperone domain. {ECO:0000250}.				mesoderm development (GO:0007498)|protein folding (GO:0006457)|protein localization to cell surface (GO:0034394)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)		p.R149T(1)		cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						GCTGCTTTACCTCTGGACGTC	0.418																																						uc002bfy.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(445-447)AGG>ACG		mesoderm development candidate 2							92.0	84.0	87.0					15																	81274291		2203	4300	6503	SO:0001630	splice_region_variant	23184				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum		g.chr15:81274291C>G	D42039	CCDS32308.1	15q13	2008-07-18							13520	protein-coding gene	gene with protein product		607783				7788527, 11247670	Standard	NM_015154		Approved	KIAA0081, BOCA, MESD	uc002bfy.1	Q14696		ENST00000261758.4:c.446+1G>C	15.37:g.81274291C>G						MESDC2_uc002bfx.2_RNA|MESDC2_uc010uno.1_Intron	p.R149T	NM_015154	NP_055969	Q14696	MESD_HUMAN			2	519	-			149			Chaperone domain (By similarity).		B4DW84|D3DW96|Q969U1	Missense_Mutation	SNP	ENST00000261758.4	37	c.446G>C	CCDS32308.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724026	0.89298	.	.	ENSG00000117899	ENST00000261758	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.78136	0.4236	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78079	-0.2344	8	.	.	.	-14.0144	18.4584	0.90729	0.0:1.0:0.0:0.0	.	149	Q14696	MESD_HUMAN	T	149	.	.	R	-	2	0	MESDC2	79061346	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.449000	0.80643	2.342000	0.79632	0.655000	0.94253	AGG		0.418	MESDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417673.2		NM_015154	Missense_Mutation	5	35	0	0	0	0.001168	0	5	35		
ADAMTSL3	57188	broad.mit.edu	37	15	84694106	84694106	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:84694106G>C	ENST00000286744.5	+	27	4798	c.4574G>C	c.(4573-4575)aGa>aCa	p.R1525T	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R1525T	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1525	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R1525T(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GTGTCTCCAAGAGCATGTGCC	0.527																																						uc002bjz.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(4573-4575)AGA>ACA		ADAMTS-like 3 precursor							150.0	128.0	136.0					15																	84694106		2203	4299	6502	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84694106G>C	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.4574G>C	15.37:g.84694106G>C	ENSP00000286744:p.Arg1525Thr					ADAMTSL3_uc010bmt.1_Missense_Mutation_p.R1525T|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.R1525T	p.R1525T	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		27	4798	+			1525			TSP type-1 9.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.4574G>C	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	9.544	1.114111	0.20795	.	.	ENSG00000156218	ENST00000286744	T	0.55930	0.49	5.15	-0.286	0.12862	.	0.793696	0.10657	N	0.649197	T	0.34861	0.0912	L	0.28054	0.825	0.09310	N	1	B;B	0.24317	0.043;0.101	B;B	0.31946	0.098;0.138	T	0.34403	-0.9830	10	0.13470	T	0.59	.	5.699	0.17871	0.3392:0.1385:0.5223:0.0	.	1525;1525	P82987-2;P82987	.;ATL3_HUMAN	T	1525	ENSP00000286744:R1525T	ENSP00000286744:R1525T	R	+	2	0	ADAMTSL3	82485110	0.000000	0.05858	0.000000	0.03702	0.423000	0.31445	0.031000	0.13710	0.063000	0.16370	-0.176000	0.13171	AGA		0.527	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2		NM_207517		3	23	0	0	0	0.004672	0	3	23		
RHCG	51458	broad.mit.edu	37	15	90020842	90020842	+	Missense_Mutation	SNP	T	T	A	rs371403263		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:90020842T>A	ENST00000268122.4	-	7	1086	c.1018A>T	c.(1018-1020)Att>Ttt	p.I340F	RHCG_ENST00000544600.1_Missense_Mutation_p.I340F	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	340					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.I340F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					AGATTGTTAATGCCACATGTG	0.592																																						uc002bnz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(1)	1						c.(1018-1020)ATT>TTT		Rh family, C glycoprotein							84.0	76.0	79.0					15																	90020842		2200	4299	6499	SO:0001583	missense	51458				amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr15:90020842T>A	AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"""Solute carriers"""	18140	protein-coding gene	gene with protein product		605381	"""chromosome 15 open reading frame 6"", ""Rhesus blood group, C glycoprotein"""	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.1018A>T	15.37:g.90020842T>A	ENSP00000268122:p.Ile340Phe					RHCG_uc002bny.2_Missense_Mutation_p.I111F|RHCG_uc002boa.2_Intron	p.I340F	NM_016321	NP_057405	Q9UBD6	RHCG_HUMAN			7	1042	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		340			Cytoplasmic (Potential).		A8K4D4|Q6X3Y4	Missense_Mutation	SNP	ENST00000268122.4	37	c.1018A>T	CCDS10351.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.271353	0.80469	.	.	ENSG00000140519	ENST00000544600;ENST00000268122;ENST00000536247	T;T	0.26518	1.73;1.73	5.58	4.46	0.54185	Ammonium transporter AmtB-like (3);	0.089181	0.85682	D	0.000000	T	0.55940	0.1952	M	0.91090	3.175	0.80722	D	1	D	0.61697	0.99	D	0.66979	0.948	T	0.63598	-0.6601	9	.	.	.	-17.3686	11.4318	0.50045	0.0:0.0709:0.0:0.9291	.	340	Q9UBD6	RHCG_HUMAN	F	340;340;331	ENSP00000438123:I340F;ENSP00000268122:I340F	.	I	-	1	0	RHCG	87821846	1.000000	0.71417	0.997000	0.53966	0.943000	0.58893	1.778000	0.38614	0.946000	0.37632	0.459000	0.35465	ATT		0.592	RHCG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000312855.2		NM_016321		21	12	0	0	0	0.012319	0	21	12		
ITFG3	83986	broad.mit.edu	37	16	310048	310048	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:310048G>C	ENST00000399932.3	+	5	917	c.466G>C	c.(466-468)Gac>Cac	p.D156H	ITFG3_ENST00000301679.2_Missense_Mutation_p.D156H|ITFG3_ENST00000301678.3_Missense_Mutation_p.D156H|ITFG3_ENST00000442458.2_Missense_Mutation_p.D156H|ITFG3_ENST00000450082.2_Missense_Mutation_p.D156H|ITFG3_ENST00000600536.1_Missense_Mutation_p.D156H	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	156						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.D156H(1)		central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				TGTGGCCCAAGACGTGGCCCT	0.622																																						uc002cgf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(466-468)GAC>CAC		integrin alpha FG-GAP repeat containing 3							51.0	55.0	54.0					16																	310048		2064	4198	6262	SO:0001583	missense	83986					integral to membrane		g.chr16:310048G>C	AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 9"""	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.466G>C	16.37:g.310048G>C	ENSP00000382814:p.Asp156His					ITFG3_uc010bqr.2_RNA|ITFG3_uc002cgg.2_Missense_Mutation_p.D156H|ITFG3_uc010uud.1_RNA|ITFG3_uc002cgh.2_Missense_Mutation_p.D156H	p.D156H	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN			5	661	+		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)	156			Extracellular (Potential).		D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Missense_Mutation	SNP	ENST00000399932.3	37	c.466G>C	CCDS10402.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.51|15.51	2.855750|2.855750	0.51376|0.51376	.|.	.|.	ENSG00000167930|ENSG00000167930	ENST00000399932;ENST00000301679;ENST00000453430;ENST00000442458;ENST00000449945;ENST00000420046;ENST00000301678;ENST00000450082|ENST00000421000	T;T;T;T;T;T;T;T|.	0.57107|.	0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42|.	4.9|4.9	3.95|3.95	0.45737|0.45737	Quinonprotein alcohol dehydrogenase-like (1);|.	0.160301|.	0.53938|.	D|.	0.000051|.	T|T	0.71978|0.71978	0.3404|0.3404	M|M	0.75447|0.75447	2.3|2.3	0.39271|0.39271	D|D	0.964391|0.964391	D;D|.	0.76494|.	0.999;0.996|.	D;P|.	0.65010|.	0.931;0.885|.	T|T	0.74515|0.74515	-0.3640|-0.3640	10|5	0.66056|.	D|.	0.02|.	-15.52|-15.52	12.5105|12.5105	0.56003|0.56003	0.0829:0.0:0.9171:0.0|0.0829:0.0:0.9171:0.0	.|.	156;156|.	Q9H0X4-2;Q9H0X4|.	.;ITFG3_HUMAN|.	H|N	156;156;156;156;147;156;156;156|84	ENSP00000382814:D156H;ENSP00000301679:D156H;ENSP00000399150:D156H;ENSP00000397477:D156H;ENSP00000407669:D147H;ENSP00000398433:D156H;ENSP00000301678:D156H;ENSP00000411394:D156H|.	ENSP00000301678:D156H|.	D|K	+|+	1|3	0|2	ITFG3|ITFG3	250049|250049	1.000000|1.000000	0.71417|0.71417	0.698000|0.698000	0.30274|0.30274	0.262000|0.262000	0.26303|0.26303	2.139000|2.139000	0.42149|0.42149	1.206000|1.206000	0.43276|0.43276	0.655000|0.655000	0.94253|0.94253	GAC|AAG		0.622	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2		NM_032039		34	21	0	0	0	0.012213	0	34	21		
WDR24	84219	broad.mit.edu	37	16	735419	735419	+	Silent	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:735419G>C	ENST00000248142.6	-	11	2246	c.2247C>G	c.(2245-2247)gtC>gtG	p.V749V	JMJD8_ENST00000412368.2_5'Flank|JMJD8_ENST00000454700.1_5'Flank|JMJD8_ENST00000562824.1_5'Flank|WDR24_ENST00000293883.4_Silent_p.V619V|JMJD8_ENST00000293882.4_5'Flank|JMJD8_ENST00000562111.1_5'Flank|JMJD8_ENST00000609261.1_5'Flank			Q96S15	WDR24_HUMAN	WD repeat domain 24	749								p.V749V(1)|p.V619V(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				GCGCGTGTGAGACAGACAGGA	0.677																																						uc002ciz.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)|central_nervous_system(1)	2						c.(1855-1857)GTC>GTG		WD repeat domain 24							36.0	46.0	43.0					16																	735419		2200	4298	6498	SO:0001819	synonymous_variant	84219							g.chr16:735419G>C	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"""WD repeat domain containing"""	20852	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 21"""	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.2247C>G	16.37:g.735419G>C						JMJD8_uc002ciw.1_5'Flank|JMJD8_uc002cix.1_5'Flank|JMJD8_uc002ciy.1_5'Flank	p.V619V	NM_032259	NP_115635	Q96S15	WDR24_HUMAN			7	2617	-		Hepatocellular(780;0.0218)	749					A2IDB8|D3DU59|Q96GC7|Q9H0B7	Silent	SNP	ENST00000248142.6	37	c.1857C>G																																																																																					0.677	WDR24-201	KNOWN	basic	protein_coding	protein_coding			NM_032259		5	40	0	0	0	0.000602	0	5	40		
NDUFB10	4716	broad.mit.edu	37	16	2011251	2011251	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:2011251C>T	ENST00000268668.6	+	2	345	c.228C>T	c.(226-228)atC>atT	p.I76I	SNORA10_ENST00000384084.1_RNA|NDUFB10_ENST00000543683.2_Silent_p.I76I|SNORA64_ENST00000384674.1_RNA|NDUFB10_ENST00000569148.1_Silent_p.I76I	NM_004548.2	NP_004539.1	O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	76					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.I76I(1)		lung(1)|urinary_tract(1)	2						AGGAGGACATCATGTGCATGT	0.537																																						uc002cni.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(226-228)ATC>ATT		NADH dehydrogenase (ubiquinone) 1 beta	NADH(DB00157)						202.0	146.0	165.0					16																	2011251		2199	4300	6499	SO:0001819	synonymous_variant	4716				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr16:2011251C>T	AF044954	CCDS10451.1	16p13.3	2011-07-04	2002-08-29		ENSG00000140990	ENSG00000140990		"""Mitochondrial respiratory chain complex / Complex I"""	7696	protein-coding gene	gene with protein product	"""complex I PDSW subunit"""	603843	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10 (22kD, PDSW)"""			9763677, 9878551	Standard	NM_004548		Approved	PDSW	uc002cni.2	O96000	OTTHUMG00000128709	ENST00000268668.6:c.228C>T	16.37:g.2011251C>T						NDUFB10_uc002cnj.2_Silent_p.I76I	p.I76I	NM_004548	NP_004539	O96000	NDUBA_HUMAN			2	337	+			76					Q96II6	Silent	SNP	ENST00000268668.6	37	c.228C>T	CCDS10451.1																																																																																				0.537	NDUFB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250614.2		NM_004548		39	27	0	0	0	0.00623	0	39	27		
PAQR4	124222	broad.mit.edu	37	16	3019837	3019837	+	Silent	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:3019837G>C	ENST00000318782.8	+	1	592	c.162G>C	c.(160-162)acG>acC	p.T54T	PKMYT1_ENST00000571102.1_Intron|PAQR4_ENST00000293978.8_Silent_p.T54T|PAQR4_ENST00000576565.1_Intron|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000572687.1_Silent_p.T54T|PAQR4_ENST00000574988.1_5'Flank	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	54				T -> A (in Ref. 2; BAC03821). {ECO:0000305}.		integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.T54T(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						ACATCTACACGCACGGTGAGC	0.697																																						uc002csj.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(160-162)ACG>ACC		progestin and adipoQ receptor family member IV							18.0	21.0	20.0					16																	3019837		2193	4284	6477	SO:0001819	synonymous_variant	124222					integral to membrane	receptor activity	g.chr16:3019837G>C		CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.162G>C	16.37:g.3019837G>C						PAQR4_uc002csk.3_Silent_p.T54T|PAQR4_uc002csl.3_Silent_p.T54T|PAQR4_uc010uwm.1_5'Flank	p.T54T	NM_152341	NP_689554	Q8N4S7	PAQR4_HUMAN			1	496	+			54	T -> A (in Ref. 2; BAC03821).		Helical; (Potential).		A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Silent	SNP	ENST00000318782.8	37	c.162G>C	CCDS10485.1																																																																																				0.697	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1		NM_152341		14	14	0	0	0	0.00245	0	14	14		
TNP2	7142	broad.mit.edu	37	16	11362858	11362858	+	Missense_Mutation	SNP	A	A	T	rs544635883	byFrequency	TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:11362858A>T	ENST00000312693.3	-	1	331	c.262T>A	c.(262-264)Tcc>Acc	p.S88T	RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)	88					acrosome reaction (GO:0007340)|binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|penetration of zona pellucida (GO:0007341)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S88T(1)|p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						GAGTGGTGGGAGTTCATAGTC	0.557																																						uc002das.2		NaN																	2	Substitution - Missense(1)|Whole gene deletion(1)		urinary_tract(1)|haematopoietic_and_lymphoid_tissue(1)		0						c.(262-264)TCC>ACC		transition protein 2 (during histone to							119.0	127.0	125.0					16																	11362858		2070	4206	6276	SO:0001583	missense	7142				cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	g.chr16:11362858A>T		CCDS45410.1	16p13.13	2008-08-01				ENSG00000178279			11952	protein-coding gene	gene with protein product		190232				1395729, 2250010	Standard	NM_005425		Approved	TP2	uc002das.3	Q05952		ENST00000312693.3:c.262T>A	16.37:g.11362858A>T	ENSP00000325738:p.Ser88Thr					C16orf75_uc002daq.1_Intron	p.S88T	NM_005425	NP_005416	Q05952	STP2_HUMAN			1	303	-			88					Q9NZB0	Missense_Mutation	SNP	ENST00000312693.3	37	c.262T>A	CCDS45410.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.671350	0.47781	.	.	ENSG00000178279	ENST00000312693	T	0.58060	0.36	3.41	0.949	0.19566	.	0.000000	0.31821	N	0.007009	T	0.57858	0.2082	L	0.49778	1.585	0.09310	N	1	D	0.65815	0.995	P	0.62382	0.901	T	0.49597	-0.8923	10	0.87932	D	0	-12.518	7.4051	0.26985	0.5498:0.4502:0.0:0.0	.	88	Q05952	STP2_HUMAN	T	88	ENSP00000325738:S88T	ENSP00000325738:S88T	S	-	1	0	TNP2	11270359	0.170000	0.23016	0.079000	0.20413	0.079000	0.17450	0.233000	0.17911	0.156000	0.19299	0.454000	0.30748	TCC		0.557	TNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417806.1		NM_005425		39	22	0	0	0	0.00623	0	39	22		
TMC7	79905	broad.mit.edu	37	16	19020681	19020681	+	Silent	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:19020681C>A	ENST00000304381.5	+	2	385	c.255C>A	c.(253-255)ctC>ctA	p.L85L	RNU6-1340P_ENST00000384438.1_RNA|TMC7_ENST00000421369.3_5'UTR|TMC7_ENST00000569532.1_Silent_p.L85L	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	85					ion transport (GO:0006811)	integral component of membrane (GO:0016021)		p.L85L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CTGAAAACCTCAGCAGCCATT	0.493																																						uc002dfq.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(253-255)CTC>CTA		transmembrane channel-like 7 isoform a							78.0	77.0	77.0					16																	19020681		2197	4300	6497	SO:0001819	synonymous_variant	79905					integral to membrane		g.chr16:19020681C>A	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.255C>A	16.37:g.19020681C>A						TMC7_uc010vao.1_Silent_p.L85L|TMC7_uc002dfp.2_Silent_p.L85L|TMC7_uc010vap.1_5'UTR	p.L85L	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN			2	385	+			85			Extracellular (Potential).		E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Silent	SNP	ENST00000304381.5	37	c.255C>A	CCDS10573.1																																																																																				0.493	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3		NM_024847		46	20	1	0	6.68952e-21	0.013114	8.23953e-21	46	20		
THUMPD1	55623	broad.mit.edu	37	16	20748467	20748467	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:20748467T>C	ENST00000381337.2	-	4	1141	c.797A>G	c.(796-798)gAg>gGg	p.E266G	THUMPD1_ENST00000396083.2_Missense_Mutation_p.E266G|THUMPD1_ENST00000431224.2_Missense_Mutation_p.E352G	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	266							poly(A) RNA binding (GO:0044822)	p.E266G(1)		NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						CTTCACCACCTCCTGGAGATT	0.428																																						uc002dho.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(796-798)GAG>GGG		THUMP domain containing 1							169.0	148.0	155.0					16																	20748467		2201	4300	6501	SO:0001583	missense	55623							g.chr16:20748467T>C	BC000448	CCDS10588.1	16p13.11	2010-06-17			ENSG00000066654	ENSG00000066654			23807	protein-coding gene	gene with protein product							Standard	XM_005255422		Approved	FLJ20274	uc002dho.3	Q9NXG2	OTTHUMG00000131558	ENST00000381337.2:c.797A>G	16.37:g.20748467T>C	ENSP00000370741:p.Glu266Gly					THUMPD1_uc010vaz.1_Missense_Mutation_p.E119G|THUMPD1_uc002dhp.2_Missense_Mutation_p.E266G	p.E266G	NM_017736	NP_060206	Q9NXG2	THUM1_HUMAN			4	935	-			266					Q9BWC3	Missense_Mutation	SNP	ENST00000381337.2	37	c.797A>G	CCDS10588.1	.	.	.	.	.	.	.	.	.	.	T	34	5.338495	0.95783	.	.	ENSG00000066654	ENST00000381337;ENST00000431224;ENST00000396083	T;T;T	0.55413	0.54;0.52;0.54	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.66137	0.2759	M	0.63843	1.955	0.80722	D	1	D	0.69078	0.997	P	0.57244	0.816	T	0.68926	-0.5280	10	0.62326	D	0.03	.	16.183	0.81925	0.0:0.0:0.0:1.0	.	266	Q9NXG2	THUM1_HUMAN	G	266;352;266	ENSP00000370741:E266G;ENSP00000392282:E352G;ENSP00000379392:E266G	ENSP00000370741:E266G	E	-	2	0	THUMPD1	20655968	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.615000	0.83006	2.231000	0.72958	0.402000	0.26972	GAG		0.428	THUMPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254420.1		NM_017736		23	86	0	0	0	0.003954	0	23	86		
SEPT1	1731	broad.mit.edu	37	16	30392786	30392786	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:30392786G>A	ENST00000571393.1	-	6	500	c.314C>T	c.(313-315)cCg>cTg	p.P105L	SEPT1_ENST00000321367.3_Missense_Mutation_p.P152L|SEPT1_ENST00000570039.1_5'Flank|SEPT1_ENST00000605106.1_Missense_Mutation_p.P110L			Q8WYJ6	SEPT1_HUMAN	septin 1	105	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.P105L(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			TTTCACCACCGGAAGCCAGCT	0.562																																						uc002dxy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(313-315)CCG>CTG		septin 1							88.0	85.0	86.0					16																	30392786		2197	4300	6497	SO:0001583	missense	1731				cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding	g.chr16:30392786G>A	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984	ENST00000571393.1:c.314C>T	16.37:g.30392786G>A	ENSP00000460441:p.Pro105Leu					SEPT1_uc002dxw.2_5'Flank|SEPT1_uc002dxx.2_5'UTR|SEPT1_uc010veq.1_Missense_Mutation_p.P152L	p.P105L	NM_052838	NP_443070	Q8WYJ6	SEPT1_HUMAN	Colorectal(24;0.193)		6	501	-			105					B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Missense_Mutation	SNP	ENST00000571393.1	37	c.314C>T		.	.	.	.	.	.	.	.	.	.	G	22.3	4.266840	0.80469	.	.	ENSG00000180096	ENST00000321367	.	.	.	5.4	5.4	0.78164	.	0.094575	0.47455	D	0.000237	T	0.76169	0.3950	L	0.55213	1.73	0.80722	D	1	D;P	0.89917	1.0;0.946	D;P	0.73708	0.981;0.605	T	0.77686	-0.2495	9	0.87932	D	0	.	18.3081	0.90189	0.0:0.0:1.0:0.0	.	152;105	B4E0I4;Q8WYJ6	.;SEPT1_HUMAN	L	105	.	ENSP00000324511:P105L	P	-	2	0	SEPT1	30300287	1.000000	0.71417	0.963000	0.40424	0.029000	0.11900	9.808000	0.99193	2.703000	0.92315	0.491000	0.48974	CCG		0.562	SEPT1-201	KNOWN	basic	protein_coding	protein_coding			NM_052838		4	114	0	0	0	0.009096	0	4	114		
ITGAD	3681	broad.mit.edu	37	16	31429662	31429662	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:31429662C>T	ENST00000389202.2	+	22	2706	c.2657C>T	c.(2656-2658)aCc>aTc	p.T886I		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	886					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.T886I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TACAAGGCCACCCTGGGAGAC	0.577																																						uc002ebv.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(2656-2658)ACC>ATC		integrin, alpha D precursor							121.0	115.0	117.0					16																	31429662		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31429662C>T	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2657C>T	16.37:g.31429662C>T	ENSP00000373854:p.Thr886Ile					ITGAD_uc010cap.1_Missense_Mutation_p.T887I	p.T886I	NM_005353	NP_005344	Q13349	ITAD_HUMAN			22	2706	+			886			Extracellular (Potential).		Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.2657C>T	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	C	4.695	0.129176	0.08981	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.46063	0.88	5.06	-2.52	0.06346	Integrin alpha-2 (1);	.	.	.	.	T	0.25568	0.0622	L	0.43152	1.355	0.09310	N	0.999997	B;B	0.29805	0.257;0.157	B;B	0.29267	0.1;0.1	T	0.23619	-1.0183	9	0.22706	T	0.39	.	1.2063	0.01896	0.4258:0.2569:0.1393:0.1779	.	902;886	Q59H14;Q13349	.;ITAD_HUMAN	I	902;886	ENSP00000373854:T886I	ENSP00000373854:T886I	T	+	2	0	ITGAD	31337163	0.001000	0.12720	0.058000	0.19502	0.475000	0.33008	-0.496000	0.06436	-0.372000	0.07992	-0.169000	0.13324	ACC		0.577	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1		NM_005353		7	96	0	0	0	0.001984	0	7	96		
SLC12A4	6560	broad.mit.edu	37	16	67985834	67985834	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:67985834A>G	ENST00000316341.3	-	8	1164	c.1024T>C	c.(1024-1026)Ttc>Ctc	p.F342L	SLC12A4_ENST00000572010.1_5'Flank|SLC12A4_ENST00000338335.3_Missense_Mutation_p.F342L|SLC12A4_ENST00000576616.1_Missense_Mutation_p.F342L|SLC12A4_ENST00000537830.2_Missense_Mutation_p.F336L|SLC12A4_ENST00000572037.1_Missense_Mutation_p.F294L|SLC12A4_ENST00000541864.2_Missense_Mutation_p.F311L|SLC12A4_ENST00000422611.2_Missense_Mutation_p.F344L	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	342					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.F342L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGTGGCAGAAGAAACTCCAT	0.577																																						uc002euz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1024-1026)TTC>CTC		solute carrier family 12, member 4 isoform a	Bumetanide(DB00887)|Potassium Chloride(DB00761)						133.0	84.0	101.0					16																	67985834		2198	4300	6498	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67985834A>G		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.1024T>C	16.37:g.67985834A>G	ENSP00000318557:p.Phe342Leu					SLC12A4_uc010ceu.2_Missense_Mutation_p.F336L|SLC12A4_uc010vkh.1_Missense_Mutation_p.F311L|SLC12A4_uc010vki.1_Missense_Mutation_p.F342L|SLC12A4_uc010vkj.1_Missense_Mutation_p.F344L|SLC12A4_uc002eva.2_Missense_Mutation_p.F342L|SLC12A4_uc002evb.2_RNA	p.F342L	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	8	1165	-		Ovarian(137;0.192)	342					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.1024T>C	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.798443	0.90538	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.2	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.79661	0.4484	M	0.90252	3.1	0.80722	D	1	B;B;D;P;P;D	0.69078	0.289;0.389;0.994;0.477;0.915;0.997	B;B;D;B;P;P	0.79108	0.234;0.177;0.992;0.333;0.721;0.87	T	0.83227	-0.0065	10	0.49607	T	0.09	.	14.9987	0.71455	1.0:0.0:0.0:0.0	.	344;342;311;336;342;342	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	L	344;311;336;342;342	ENSP00000395983:F344L;ENSP00000438334:F311L;ENSP00000445962:F336L;ENSP00000343374:F342L;ENSP00000318557:F342L	ENSP00000318557:F342L	F	-	1	0	SLC12A4	66543335	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	9.287000	0.95975	2.022000	0.59522	0.383000	0.25322	TTC		0.577	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4		NM_005072		7	57	0	0	0	0.00308	0	7	57		
HAS3	3038	broad.mit.edu	37	16	69147356	69147356	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:69147356G>C	ENST00000306560.1	+	3	805	c.649G>C	c.(649-651)Gac>Cac	p.D217H	HAS3_ENST00000569188.1_Missense_Mutation_p.D217H|HAS3_ENST00000219322.3_Missense_Mutation_p.D217H	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	217					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)	p.D217H(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GTGCGACTCTGACACTGTGCT	0.612											OREG0023905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010cfh.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(649-651)GAC>CAC		hyaluronan synthase 3 isoform a							113.0	101.0	105.0					16																	69147356		2198	4300	6498	SO:0001583	missense	3038				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	g.chr16:69147356G>C	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.649G>C	16.37:g.69147356G>C	ENSP00000304440:p.Asp217His		OREG0023905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1112	HAS3_uc002ewk.2_Missense_Mutation_p.D217H|HAS3_uc002ewl.2_Missense_Mutation_p.D217H	p.D217H	NM_005329	NP_005320	O00219	HAS3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	3	873	+		Ovarian(137;0.101)	217			Cytoplasmic (Potential).		A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	ENST00000306560.1	37	c.649G>C	CCDS10871.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771176	0.90108	.	.	ENSG00000103044	ENST00000219322;ENST00000306560	D;D	0.98090	-4.71;-2.24	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.99236	0.9734	H	0.96015	3.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.977;0.999	D	0.98965	1.0799	10	0.87932	D	0	-13.3248	19.6915	0.96002	0.0:0.0:1.0:0.0	.	217;217	O00219;O00219-2	HAS3_HUMAN;.	H	217	ENSP00000219322:D217H;ENSP00000304440:D217H	ENSP00000219322:D217H	D	+	1	0	HAS3	67704857	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	9.750000	0.98875	2.824000	0.97209	0.655000	0.94253	GAC		0.612	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2		NM_138612		29	59	0	0	0	0.007291	0	29	59		
SF3B3	23450	broad.mit.edu	37	16	70563070	70563070	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:70563070C>T	ENST00000302516.5	+	3	576	c.365C>T	c.(364-366)gCt>gTt	p.A122V	SNORD111B_ENST00000408587.1_RNA	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	122					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)	p.A122V(1)		breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CAGTTCTTAGCTGTGGATCCC	0.438																																						uc002ezf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(364-366)GCT>GTT		splicing factor 3b, subunit 3							55.0	53.0	54.0					16																	70563070		2198	4300	6498	SO:0001583	missense	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70563070C>T	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.365C>T	16.37:g.70563070C>T	ENSP00000305790:p.Ala122Val					SNORD111B_uc010cfv.1_5'Flank	p.A122V	NM_012426	NP_036558	Q15393	SF3B3_HUMAN			3	576	+		Ovarian(137;0.0694)	122					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.365C>T	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	C	36	5.762169	0.96906	.	.	ENSG00000189091	ENST00000302516;ENST00000310750	T	0.07688	3.17	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.31544	0.0800	M	0.92317	3.295	0.80722	D	1	P	0.40000	0.698	P	0.48524	0.58	T	0.11446	-1.0587	10	0.42905	T	0.14	.	19.9055	0.97006	0.0:1.0:0.0:0.0	.	122	Q15393	SF3B3_HUMAN	V	122	ENSP00000305790:A122V	ENSP00000305790:A122V	A	+	2	0	SF3B3	69120571	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.711000	0.92665	0.561000	0.74099	GCT		0.438	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1		NM_012426		3	51	0	0	0	0.009096	0	3	51		
VAT1L	57687	broad.mit.edu	37	16	77910312	77910312	+	Silent	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:77910312G>T	ENST00000302536.2	+	5	921	c.768G>T	c.(766-768)ggG>ggT	p.G256G	VAT1L_ENST00000563850.1_3'UTR	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	256							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.G256G(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GCCTCTGTGGGGACAACACTG	0.478																																						uc002ffg.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(766-768)GGG>GGT		vesicle amine transport protein 1 homolog (T.							227.0	204.0	212.0					16																	77910312		2198	4300	6498	SO:0001819	synonymous_variant	57687						oxidoreductase activity|zinc ion binding	g.chr16:77910312G>T	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.768G>T	16.37:g.77910312G>T							p.G256G	NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN			5	865	+			256					Q8IYW8	Silent	SNP	ENST00000302536.2	37	c.768G>T	CCDS32492.1																																																																																				0.478	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1		NM_020927		10	135	1	0	1.58986e-06	0.008291	1.76457e-06	10	135		
C16orf46	123775	broad.mit.edu	37	16	81095726	81095726	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:81095726C>A	ENST00000299578.5	-	4	463	c.228G>T	c.(226-228)agG>agT	p.R76S	C16orf46_ENST00000444657.3_5'UTR|RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000378611.4_Missense_Mutation_p.R76S	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	76						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R76S(2)		NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						CTGGAGAAGTCCTTCCCCACC	0.557																																						uc002fgc.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(226-228)AGG>AGT		chromosome 16 open reading frame 46 isoform 2							87.0	84.0	85.0					16																	81095726		2202	4300	6502	SO:0001583	missense	123775							g.chr16:81095726C>A	BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.228G>T	16.37:g.81095726C>A	ENSP00000299578:p.Arg76Ser					C16orf46_uc010chf.2_Missense_Mutation_p.R76S|C16orf46_uc010vno.1_5'UTR	p.R76S	NM_152337	NP_689550	Q6P387	CP046_HUMAN			4	487	-			76					Q96MA7	Missense_Mutation	SNP	ENST00000299578.5	37	c.228G>T	CCDS10932.1	.	.	.	.	.	.	.	.	.	.	C	6.515	0.463326	0.12402	.	.	ENSG00000166455	ENST00000378611;ENST00000299578	T;T	0.20332	2.08;2.08	5.61	1.46	0.22682	.	0.674994	0.14398	N	0.322085	T	0.12390	0.0301	L	0.29908	0.895	0.09310	N	1	B;B	0.14012	0.009;0.003	B;B	0.13407	0.009;0.009	T	0.29119	-1.0022	10	0.62326	D	0.03	.	1.5281	0.02529	0.1554:0.4668:0.1362:0.2415	.	76;76	Q6P387-2;Q6P387	.;CP046_HUMAN	S	76	ENSP00000367874:R76S;ENSP00000299578:R76S	ENSP00000299578:R76S	R	-	3	2	C16orf46	79653227	0.001000	0.12720	0.001000	0.08648	0.270000	0.26580	-0.076000	0.11412	0.038000	0.15604	-0.244000	0.11960	AGG		0.557	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2		NM_152337		11	106	1	0	1.5842e-08	0.001855	1.81308e-08	11	106		
GSE1	23199	broad.mit.edu	37	16	85691124	85691124	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:85691124C>T	ENST00000253458.7	+	8	1730	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	RN7SL381P_ENST00000577658.1_RNA|GSE1_ENST00000393243.1_Silent_p.F445F|GSE1_ENST00000405402.2_Silent_p.F414F	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	518								p.F518F(1)									TGTCCGAGTTCCGGCAGCAGG	0.697																																						uc002fix.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(3)|ovary(1)|skin(1)	5						c.(1552-1554)TTC>TTT		genetic suppressor element 1 isoform 1							15.0	19.0	18.0					16																	85691124		2178	4281	6459	SO:0001819	synonymous_variant	23199						protein binding	g.chr16:85691124C>T	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.1554C>T	16.37:g.85691124C>T						KIAA0182_uc002fiw.2_Silent_p.F414F|KIAA0182_uc002fiy.2_Silent_p.F445F	p.F518F	NM_014615	NP_055430	Q14687	GSE1_HUMAN			8	1628	+			518					D3DUM4|Q8IY61|Q96GA4|Q9BW09	Silent	SNP	ENST00000253458.7	37	c.1554C>T	CCDS10952.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.443769	0.25987	.	.	ENSG00000131149	ENST00000412692	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	T	0.63850	0.2546	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62315	-0.6880	4	.	.	.	-28.6252	11.8804	0.52571	0.0:0.9192:0.0:0.0808	.	.	.	.	F	325	.	.	S	+	2	0	KIAA0182	84248625	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.468000	0.35332	2.367000	0.80283	0.561000	0.74099	TCC		0.697	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1		NM_014615		9	12	0	0	0	0.006214	0	9	12		
TP53	7157	broad.mit.edu	37	17	7577107	7577107	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:7577107A>T	ENST00000269305.4	-	8	1020	c.831T>A	c.(829-831)tgT>tgA	p.C277*	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.C277*|TP53_ENST00000359597.4_Nonsense_Mutation_p.C277*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.C277*|TP53_ENST00000420246.2_Nonsense_Mutation_p.C277*	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	277	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.C277*(8)|p.C277C(4)|p.?(2)|p.P278fs*28(2)|p.C277W(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.A276_C277delAC(1)|p.V274_P278del(1)|p.C277_P278insXXXXXXX(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTCTCCCAGGACAGGCACAAA	0.547		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		38	Substitution - Nonsense(8)|Whole gene deletion(8)|Deletion - In frame(7)|Deletion - Frameshift(4)|Substitution - coding silent(4)|Insertion - Frameshift(2)|Unknown(2)|Substitution - Missense(2)|Insertion - In frame(1)	p.C277F(20)|p.C277Y(15)|p.0?(7)|p.C277*(6)|p.C277G(4)|p.C277C(4)|p.P278fs*28(2)|p.?(2)|p.C277W(2)|p.C277fs*29(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.V274_P278del(1)|p.C277_P278insXXXXXXX(1)|p.L265_K305del41(1)|p.C275_R283delCACPGRDRR(1)|p.S269fs*21(1)|p.F270_D281del12(1)|p.A276_C277delAC(1)|p.C275fs*67(1)|p.C277R(1)|p.C277S(1)|p.V272_K292del21(1)|p.C275fs*20(1)	upper_aerodigestive_tract(6)|breast(6)|urinary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|stomach(3)|central_nervous_system(2)|oesophagus(2)|lung(2)|biliary_tract(1)|large_intestine(1)|ovary(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM065496	TP53	M		c.(829-831)TGT>TGA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							72.0	62.0	65.0					17																	7577107		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.chr17:7577107A>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.831T>A	17.37:g.7577107A>T	ENSP00000269305:p.Cys277*	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.C277*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.C145*|TP53_uc010cng.1_Nonsense_Mutation_p.C145*|TP53_uc002gii.1_Nonsense_Mutation_p.C145*|TP53_uc010cnh.1_Nonsense_Mutation_p.C277*|TP53_uc010cni.1_Nonsense_Mutation_p.C277*|TP53_uc002gij.2_Nonsense_Mutation_p.C277*	p.C277*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1025	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	277		C -> W (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).	Interaction with DNA.||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.831T>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	37	6.040834	0.97226	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.13	1.53	0.23141	.	0.044315	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.0792	7.7422	0.28848	0.6581:0.0:0.3419:0.0	.	.	.	.	X	277;277;277;277;277;266;145	.	ENSP00000269305:C277X	C	-	3	2	TP53	7517832	0.987000	0.35691	1.000000	0.80357	0.977000	0.68977	0.281000	0.18810	0.383000	0.24910	0.379000	0.24179	TGT		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		17	14	0	0	0	0.004007	0	17	14		
MYH13	8735	broad.mit.edu	37	17	10248889	10248889	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:10248889C>A	ENST00000418404.3	-	13	1471	c.1308G>T	c.(1306-1308)aaG>aaT	p.K436N	MYH13_ENST00000252172.4_Missense_Mutation_p.K436N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	436	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.K436N(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACAGGAACATCTTCTCGTAGA	0.517																																						uc002gmk.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(4)|skin(2)	6						c.(1306-1308)AAG>AAT		myosin, heavy polypeptide 13, skeletal muscle							174.0	163.0	167.0					17																	10248889		2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10248889C>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.1308G>T	17.37:g.10248889C>A	ENSP00000404570:p.Lys436Asn					MYH13_uc010vvf.1_Missense_Mutation_p.K111N	p.K436N	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			14	1398	-			436			Myosin head-like.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.1308G>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.786159	0.70337	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.87729	-2.29	4.33	2.33	0.28932	Myosin head, motor domain (2);	.	.	.	.	D	0.92277	0.7550	M	0.77820	2.39	0.39861	D	0.973377	P	0.46987	0.888	D	0.74023	0.982	D	0.91982	0.5595	9	0.87932	D	0	.	10.5175	0.44898	0.0:0.8412:0.0:0.1588	.	436	Q9UKX3	MYH13_HUMAN	N	436;111	ENSP00000252172:K436N	ENSP00000252172:K436N	K	-	3	2	MYH13	10189614	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.526000	0.35964	0.576000	0.29452	0.561000	0.74099	AAG		0.517	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1		NM_003802		44	42	1	0	5.85753e-14	0.01441	6.98066e-14	44	42		
AKAP10	11216	broad.mit.edu	37	17	19845219	19845219	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:19845219C>T	ENST00000225737.6	-	6	1138	c.981G>A	c.(979-981)agG>agA	p.R327R	AKAP10_ENST00000395536.3_Silent_p.R327R	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	327	RGS 1. {ECO:0000255|PROSITE- ProRule:PRU00171}.				blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)		p.R327R(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					CTCCACAAATCCTTGCTGCAA	0.373																																						uc002gwo.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(979-981)AGG>AGA		A-kinase anchor protein 10 precursor							104.0	83.0	90.0					17																	19845219		2203	4299	6502	SO:0001819	synonymous_variant	11216				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity	g.chr17:19845219C>T	AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"""A-kinase anchor proteins"""	368	protein-coding gene	gene with protein product	"""dual-specificity A-kinase anchoring protein 2"", ""protein kinase A anchoring protein 10"", ""mitochondrial A kinase PPKA anchor protein 10"""	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.981G>A	17.37:g.19845219C>T						AKAP10_uc002gwp.1_Silent_p.R327R|AKAP10_uc010cqw.1_Silent_p.R327R	p.R327R	NM_007202	NP_009133	O43572	AKA10_HUMAN			6	1118	-	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)		327			RGS 1.		B2R650|Q96AJ7	Silent	SNP	ENST00000225737.6	37	c.981G>A	CCDS11214.1																																																																																				0.373	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132380.2		NM_007202		4	25	0	0	0	0.000602	0	4	25		
NOS2	4843	broad.mit.edu	37	17	26106004	26106004	+	Silent	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:26106004G>T	ENST00000313735.6	-	10	1316	c.1083C>A	c.(1081-1083)ggC>ggA	p.G361G		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	361					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)	p.G361G(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	GGAACTCCAGGCCGCCCACCT	0.567																																						uc002gzu.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(2)|ovary(1)|breast(1)	4						c.(1081-1083)GGC>GGA		nitric oxide synthase 2A	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						65.0	64.0	64.0					17																	26106004		2203	4300	6503	SO:0001819	synonymous_variant	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26106004G>T	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.1083C>A	17.37:g.26106004G>T						NOS2_uc010crh.1_Silent_p.G361G|NOS2_uc010wab.1_Silent_p.G361G	p.G361G	NM_000625	NP_000616	P35228	NOS2_HUMAN			10	1347	-			361					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	ENST00000313735.6	37	c.1083C>A	CCDS11223.1																																																																																				0.567	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1		NM_000625		30	40	1	0	1.39649e-27	0.012213	1.73062e-27	30	40		
EFCAB5	374786	broad.mit.edu	37	17	28380773	28380773	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:28380773G>C	ENST00000394835.3	+	10	1993	c.1801G>C	c.(1801-1803)Gag>Cag	p.E601Q	EFCAB5_ENST00000394832.2_Missense_Mutation_p.E601Q|EFCAB5_ENST00000536908.2_Missense_Mutation_p.E545Q|EFCAB5_ENST00000378738.3_Missense_Mutation_p.E601Q|EFCAB5_ENST00000541045.1_Missense_Mutation_p.E258Q|EFCAB5_ENST00000320856.5_Missense_Mutation_p.E601Q	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	601							calcium ion binding (GO:0005509)	p.E601Q(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ATCAAGCAGAGAGTCAGTTGC	0.478																																						uc002het.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1801-1803)GAG>CAG		EF-hand calcium binding domain 5 isoform a							251.0	237.0	242.0					17																	28380773		2097	4228	6325	SO:0001583	missense	374786						calcium ion binding	g.chr17:28380773G>C	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1801G>C	17.37:g.28380773G>C	ENSP00000378312:p.Glu601Gln					EFCAB5_uc010wbi.1_Missense_Mutation_p.E344Q|EFCAB5_uc010wbj.1_Missense_Mutation_p.E545Q|EFCAB5_uc010wbk.1_Missense_Mutation_p.E258Q|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Missense_Mutation_p.E480Q|EFCAB5_uc010csf.2_Missense_Mutation_p.E480Q	p.E601Q	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN			10	1993	+			601					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.1801G>C	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	11.55	1.673035	0.29693	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28;0.28;0.28	5.97	0.688	0.18027	.	1.891280	0.02671	N	0.108510	T	0.58836	0.2150	L	0.47716	1.5	0.09310	N	1	D;D;P;B;P;B	0.65815	0.991;0.995;0.952;0.264;0.763;0.091	P;P;P;B;B;B	0.51453	0.469;0.67;0.638;0.09;0.293;0.018	T	0.48603	-0.9021	10	0.14252	T	0.57	2.9246	8.6317	0.33924	0.3991:0.0:0.6009:0.0	.	545;545;601;601;601;601	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	Q	545;344;258;601;601;601;601;545;407	ENSP00000440619:E545Q;ENSP00000445575:E258Q;ENSP00000378312:E601Q;ENSP00000322003:E601Q;ENSP00000378309:E601Q;ENSP00000368012:E601Q;ENSP00000417009:E407Q	ENSP00000322003:E601Q	E	+	1	0	EFCAB5	25404899	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.081000	0.11321	0.138000	0.18790	-0.140000	0.14226	GAG		0.478	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4		NM_198529		12	109	0	0	0	0.013537	0	12	109		
GAS2L2	246176	broad.mit.edu	37	17	34071981	34071981	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:34071981C>T	ENST00000254466.6	-	6	2562	c.2535G>A	c.(2533-2535)gaG>gaA	p.E845E	GAS2L2_ENST00000587565.1_Silent_p.E829E	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	845					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)	p.E845E(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGGctctttctcctcctttc	0.602																																						uc002hjv.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(2533-2535)GAG>GAA		growth arrest-specific 2 like 2							72.0	62.0	65.0					17																	34071981		2203	4300	6503	SO:0001819	synonymous_variant	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34071981C>T	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2535G>A	17.37:g.34071981C>T							p.E845E	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2563	-		Ovarian(249;0.17)	845					Q8NHY4	Silent	SNP	ENST00000254466.6	37	c.2535G>A	CCDS11298.1																																																																																				0.602	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1		NM_139285		4	20	0	0	0	0.000602	0	4	20		
ABCC3	8714	broad.mit.edu	37	17	48761083	48761083	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:48761083G>C	ENST00000285238.8	+	27	4000	c.3920G>C	c.(3919-3921)aGa>aCa	p.R1307T		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1307	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.R1307T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	CTGGTGCTGAGAGACCTGAGT	0.647																																						uc002isl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)|central_nervous_system(1)	4						c.(3919-3921)AGA>ACA		ATP-binding cassette, sub-family C, member 3	Glibenclamide(DB01016)						128.0	119.0	122.0					17																	48761083		2203	4300	6503	SO:0001583	missense	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48761083G>C	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.3920G>C	17.37:g.48761083G>C	ENSP00000285238:p.Arg1307Thr					ABCC3_uc002isn.2_Missense_Mutation_p.R61T	p.R1307T	NM_003786	NP_003777	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		27	4000	+			1307			Cytoplasmic (By similarity).|ABC transporter 2.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	c.3920G>C	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	g	18.89	3.718940	0.68844	.	.	ENSG00000108846	ENST00000285238	D	0.93763	-3.28	5.94	-0.16	0.13375	ABC transporter-like (1);	0.225560	0.44285	D	0.000469	D	0.88833	0.6544	L	0.48218	1.51	0.30186	N	0.799989	B	0.26195	0.144	B	0.23716	0.048	T	0.81863	-0.0737	10	0.72032	D	0.01	-8.9798	10.6843	0.45833	0.7315:0.0:0.2685:0.0	.	1307	O15438	MRP3_HUMAN	T	1307	ENSP00000285238:R1307T	ENSP00000285238:R1307T	R	+	2	0	ABCC3	46116082	0.905000	0.30787	0.035000	0.18076	0.833000	0.47200	1.766000	0.38491	-0.310000	0.08766	-0.144000	0.13903	AGA		0.647	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2		NM_020038		30	81	0	0	0	0.010818	0	30	81		
UTP18	51096	broad.mit.edu	37	17	49357465	49357465	+	Splice_Site	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:49357465A>C	ENST00000225298.7	+	8	1169	c.1112A>C	c.(1111-1113)aAg>aCg	p.K371T		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	371					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K371T(1)		breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			CTAGCAATGAAGGTAAAGCAT	0.418																																						uc002its.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1111-1113)AAG>ACG		UTP18, small subunit processome component							72.0	66.0	68.0					17																	49357465		1878	4115	5993	SO:0001630	splice_region_variant	51096				rRNA processing	nucleolus		g.chr17:49357465A>C	AF151806	CCDS42362.1	17q21.33	2013-05-21	2011-12-09	2006-05-16	ENSG00000011260	ENSG00000011260		"""WD repeat domain containing"""	24274	protein-coding gene	gene with protein product		612816	"""WD repeat domain 50"""	WDR50		10810093, 8619474, 15590835	Standard	NM_016001		Approved	CGI-48	uc002its.3	Q9Y5J1	OTTHUMG00000162370	ENST00000225298.7:c.1113+1A>C	17.37:g.49357465A>C							p.K371T	NM_016001	NP_057085	Q9Y5J1	UTP18_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.09e-07)		8	1161	+			371			WD 3.		Q9H4N6	Missense_Mutation	SNP	ENST00000225298.7	37	c.1112A>C	CCDS42362.1	.	.	.	.	.	.	.	.	.	.	A	18.75	3.690440	0.68271	.	.	ENSG00000011260	ENST00000225298;ENST00000508506;ENST00000506940	D	0.97752	-4.52	5.77	5.77	0.91146	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.045428	0.85682	D	0.000000	D	0.97467	0.9171	M	0.72894	2.215	0.58432	D	0.999992	P	0.45634	0.863	P	0.49192	0.602	D	0.96987	0.9719	10	0.26408	T	0.33	-12.7298	16.1399	0.81515	1.0:0.0:0.0:0.0	.	371	Q9Y5J1	UTP18_HUMAN	T	371;347;81	ENSP00000225298:K371T	ENSP00000225298:K371T	K	+	2	0	UTP18	46712464	1.000000	0.71417	1.000000	0.80357	0.466000	0.32739	6.897000	0.75671	2.207000	0.71202	0.529000	0.55759	AAG		0.418	UTP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368654.1		NM_016001	Missense_Mutation	16	24	0	0	0	0.004007	0	16	24		
ACE	1636	broad.mit.edu	37	17	61566424	61566424	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:61566424C>T	ENST00000290866.4	+	17	2596	c.2572C>T	c.(2572-2574)Cgg>Tgg	p.R858W	ACE_ENST00000490216.2_Missense_Mutation_p.R284W|ACE_ENST00000428043.1_Missense_Mutation_p.R858W|ACE_ENST00000413513.3_Missense_Mutation_p.R284W|ACE_ENST00000577647.1_Missense_Mutation_p.R284W|ACE_ENST00000290863.6_Missense_Mutation_p.R284W|ACE_ENST00000421982.2_Intron	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	858	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)	p.R284W(1)|p.R858W(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CTACGTGCGCCGGGCCCTGCA	0.632																																						uc002jau.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(2572-2574)CGG>TGG		angiotensin I converting enzyme 1 isoform 1	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						55.0	50.0	52.0					17																	61566424		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61566424C>T	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.2572C>T	17.37:g.61566424C>T	ENSP00000290866:p.Arg858Trp					ACE_uc002jav.1_Missense_Mutation_p.R284W|ACE_uc010ddv.1_Missense_Mutation_p.R85W|ACE_uc010wpj.1_Missense_Mutation_p.R284W|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Intron	p.R858W	NM_000789	NP_000780	P12821	ACE_HUMAN			17	2594	+			858			Extracellular (Potential).|Peptidase M2 2.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.2572C>T	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503904	0.44558	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.73202	0.3557	M	0.89353	3.025	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.93;0.971;1.0	T	0.77948	-0.2396	10	0.72032	D	0.01	-34.5685	14.5539	0.68086	0.1463:0.8537:0.0:0.0	.	284;284;858	B4DXI3;P12821-3;P12821	.;.;ACE_HUMAN	W	858;858;284;284	ENSP00000290866:R858W;ENSP00000397593:R858W;ENSP00000290863:R284W;ENSP00000392247:R284W	ENSP00000290863:R284W	R	+	1	2	ACE	58920156	0.997000	0.39634	1.000000	0.80357	0.961000	0.63080	2.249000	0.43169	2.667000	0.90743	0.561000	0.74099	CGG		0.632	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2				3	39	0	0	0	0.004672	0	3	39		
KCNJ16	3773	broad.mit.edu	37	17	68128659	68128659	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:68128659C>A	ENST00000589377.1	+	2	594	c.431C>A	c.(430-432)tCt>tAt	p.S144Y	KCNJ16_ENST00000392670.1_Missense_Mutation_p.S144Y|KCNJ16_ENST00000392671.1_Missense_Mutation_p.S144Y|KCNJ16_ENST00000283936.1_Missense_Mutation_p.S144Y|KCNJ16_ENST00000585558.1_Missense_Mutation_p.S179Y|KCNJ16_ENST00000586462.1_Missense_Mutation_p.S183Y	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	144					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)	p.S144Y(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					GAAGAATGTTCTGTGGCCGTG	0.458																																						uc002jin.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(430-432)TCT>TAT		potassium inwardly-rectifying channel J16							86.0	70.0	75.0					17																	68128659		2203	4300	6503	SO:0001583	missense	3773				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr17:68128659C>A	AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.431C>A	17.37:g.68128659C>A	ENSP00000465967:p.Ser144Tyr					KCNJ16_uc002jio.2_Missense_Mutation_p.S144Y|KCNJ16_uc002jip.2_Missense_Mutation_p.S144Y|KCNJ16_uc002jiq.2_Missense_Mutation_p.S176Y	p.S144Y	NM_018658	NP_061128	Q9NPI9	IRK16_HUMAN			5	917	+	Breast(10;2.96e-09)		144			Extracellular (By similarity).			Missense_Mutation	SNP	ENST00000589377.1	37	c.431C>A	CCDS11687.1	.	.	.	.	.	.	.	.	.	.	C	5.200	0.222481	0.09863	.	.	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	D;D;D	0.94046	-3.34;-3.34;-3.34	5.54	4.55	0.56014	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.271361	0.43416	D	0.000573	D	0.83704	0.5312	N	0.08118	0	0.32433	N	0.547739	B;B	0.06786	0.001;0.0	B;B	0.12837	0.008;0.001	T	0.79410	-0.1815	9	.	.	.	.	11.1745	0.48590	0.1442:0.7169:0.1388:0.0	.	144;144	A8K434;Q9NPI9	.;IRK16_HUMAN	Y	144	ENSP00000283936:S144Y;ENSP00000376439:S144Y;ENSP00000376438:S144Y	.	S	+	2	0	KCNJ16	65640254	0.998000	0.40836	0.118000	0.21660	0.001000	0.01503	3.477000	0.53151	1.435000	0.47434	0.650000	0.86243	TCT		0.458	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1		NM_018658		23	41	1	0	7.41877e-09	0.012319	8.51473e-09	23	41		
CD300A	11314	broad.mit.edu	37	17	72480186	72480186	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:72480186C>T	ENST00000360141.3	+	7	1109	c.821C>T	c.(820-822)tCt>tTt	p.S274F	CD300A_ENST00000392625.3_Missense_Mutation_p.S125F|CD300A_ENST00000577511.1_Missense_Mutation_p.S144F|CD300A_ENST00000361933.3_Missense_Mutation_p.S78F|CD300A_ENST00000310828.5_Missense_Mutation_p.S161F	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	274					cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)	p.S274F(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GTGTTTGATTCTAACACCAAC	0.507																																						uc002jkv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(820-822)TCT>TTT		leukocyte membrane antigen							113.0	108.0	110.0					17																	72480186		2203	4300	6503	SO:0001583	missense	11314				cell adhesion	integral to membrane|plasma membrane	receptor activity	g.chr17:72480186C>T	BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19319	protein-coding gene	gene with protein product		606790	"""CD300a antigen"""			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.821C>T	17.37:g.72480186C>T	ENSP00000353259:p.Ser274Phe					CD300A_uc002jkw.2_Missense_Mutation_p.S161F|CD300A_uc010dfr.2_Missense_Mutation_p.S125F|CD300A_uc010dfs.2_Missense_Mutation_p.S78F	p.S274F	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN			7	1142	+			274			Cytoplasmic (Potential).		A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Missense_Mutation	SNP	ENST00000360141.3	37	c.821C>T	CCDS32720.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324434	0.41197	.	.	ENSG00000167851	ENST00000361933;ENST00000360141;ENST00000392625;ENST00000310828	T;T	0.42513	0.97;0.97	4.16	3.17	0.36434	.	.	.	.	.	T	0.51210	0.1661	L	0.36672	1.1	0.09310	N	1	D;D;D;D	0.76494	0.99;0.998;0.998;0.999	D;D;D;D	0.70935	0.912;0.971;0.971;0.936	T	0.33317	-0.9873	9	0.87932	D	0	.	9.9825	0.41821	0.0:0.7945:0.2055:0.0	.	78;125;161;274	Q9UGN4-3;Q9UGN4-4;Q9UGN4-2;Q9UGN4	.;.;.;CLM8_HUMAN	F	78;274;125;161	ENSP00000353259:S274F;ENSP00000308188:S161F	ENSP00000308188:S161F	S	+	2	0	CD300A	69991781	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.377000	0.20552	1.309000	0.44985	0.555000	0.69702	TCT		0.507	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145091.1		NM_007261		26	60	0	0	0	0.004656	0	26	60		
KIAA0195	9772	broad.mit.edu	37	17	73489627	73489627	+	Silent	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:73489627A>G	ENST00000314256.7	+	17	2536	c.2142A>G	c.(2140-2142)acA>acG	p.T714T	KIAA0195_ENST00000375248.5_Silent_p.T724T|KIAA0195_ENST00000579208.1_Silent_p.T365T	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	714						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.T714T(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGCCTGCACAGACTTCTGGG	0.612																																						uc002jnz.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(2140-2142)ACA>ACG		hypothetical protein LOC9772							115.0	105.0	108.0					17																	73489627		2203	4300	6503	SO:0001819	synonymous_variant	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73489627A>G		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.2142A>G	17.37:g.73489627A>G						KIAA0195_uc010wsa.1_Silent_p.T724T|KIAA0195_uc010wsb.1_Silent_p.T354T|KIAA0195_uc002job.3_5'Flank	p.T714T	NM_014738	NP_055553	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		17	2417	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		714					O75536|Q86XF1	Silent	SNP	ENST00000314256.7	37	c.2142A>G	CCDS32732.1																																																																																				0.612	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1		NM_014738		16	31	0	0	0	0.00499	0	16	31		
NARF	26502	broad.mit.edu	37	17	80426772	80426772	+	Splice_Site	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:80426772G>C	ENST00000309794.11	+	4	583	c.385G>C	c.(385-387)Ggg>Cgg	p.G129R	NARF_ENST00000581743.1_3'UTR|NARF_ENST00000345415.7_Splice_Site_p.G81R|NARF_ENST00000412079.2_Splice_Site_p.L13F|NARF_ENST00000390006.4_Splice_Site_p.G70R|NARF_ENST00000457415.3_Splice_Site_p.G129R	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	129						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)	p.G129R(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CAAAAGTCTTGGTGAGTCATC	0.388																																						uc002kfg.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(385-387)GGG>CGG		nuclear prelamin A recognition factor isoform a							151.0	140.0	143.0					17																	80426772		2203	4300	6503	SO:0001630	splice_region_variant	26502					lamin filament	lamin binding	g.chr17:80426772G>C	BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 2"""	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.385+1G>C	17.37:g.80426772G>C						NARF_uc002kff.3_Missense_Mutation_p.G70R|NARF_uc010wvo.1_Missense_Mutation_p.G129R|NARF_uc010wvp.1_Missense_Mutation_p.L13F|NARF_uc010dit.2_Missense_Mutation_p.G129R|NARF_uc002kfj.3_Missense_Mutation_p.G81R|NARF_uc002kfi.3_RNA|NARF_uc002kfh.3_Missense_Mutation_p.G129R|NARF_uc002kfk.2_RNA	p.G129R	NM_012336	NP_036468	Q9UHQ1	NARF_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		4	525	+	Breast(20;0.00106)|all_neural(118;0.0804)		129					A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Missense_Mutation	SNP	ENST00000309794.11	37	c.385G>C	CCDS32777.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.44|16.44	3.123465|3.123465	0.56613|0.56613	.|.	.|.	ENSG00000141562|ENSG00000141562	ENST00000390006;ENST00000374611;ENST00000309794;ENST00000345415;ENST00000457415|ENST00000412079	T;T;T;T;T|.	0.63255|.	-0.03;-0.03;-0.03;-0.03;-0.03|.	5.63|5.63	5.63|5.63	0.86233|0.86233	Iron hydrogenase, large subunit, C-terminal (1);Iron hydrogenase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80193|0.80193	0.4578|0.4578	H|H	0.96943|0.96943	3.91|3.91	0.41469|0.41469	D|D	0.988094|0.988094	D;D;D;D;D|P	0.89917|0.41947	1.0;0.993;0.993;0.994;0.994|0.766	D;D;D;D;D|B	0.85130|0.39706	0.997;0.976;0.969;0.986;0.975|0.307	D|D	0.86770|0.86770	0.1972|0.1972	10|8	0.87932|0.66056	D|D	0|0.02	-21.6113|-21.6113	18.6755|18.6755	0.91528|0.91528	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	129;129;81;129;129|13	B4DND8;Q9UHQ1-2;Q9UHQ1-3;E9PH27;Q9UHQ1|B4DZZ6	.;.;.;.;NARF_HUMAN|.	R|F	70;129;129;81;129|13	ENSP00000374656:G70R;ENSP00000363739:G129R;ENSP00000309899:G129R;ENSP00000283996:G81R;ENSP00000414678:G129R|.	ENSP00000309899:G129R|ENSP00000409710:L13F	G|L	+|+	1|3	0|2	NARF|NARF	78020061|78020061	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	9.109000|9.109000	0.94291|0.94291	2.664000|2.664000	0.90586|0.90586	0.591000|0.591000	0.81541|0.81541	GGG;GGG;GGG;GGG;GGC|TTG		0.388	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443573.2		NM_031968	Missense_Mutation	5	78	0	0	0	0.001168	0	5	78		
NDC80	10403	broad.mit.edu	37	18	2595619	2595619	+	Splice_Site	SNP	C	C	T	rs377218212		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr18:2595619C>T	ENST00000261597.4	+	11	1402	c.1220C>T	c.(1219-1221)gCg>gTg	p.A407V		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	407	Interaction with NEK2 and ZWINT.|Interaction with PSMC2 and SMC1A.|Interaction with SMC1A.|Interaction with the N-terminus of CDCA1.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.A407V(1)		NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						GGCAAAGAAGCGGTATGTCAT	0.408																																						uc002kli.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1219-1221)GCG>GTG		kinetochore associated 2		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	86.0	88.0	87.0		1220	3.5	1.0	18		87	0,8600		0,0,4300	no	missense-near-splice	NDC80	NM_006101.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	407/643	2595619	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	10403				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding	g.chr18:2595619C>T	AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"""highly expressed in cancer, rich in leucine heptad repeats (yeast)"", ""kinetochore associated 2"", ""NDC80 kinetochore complex component homolog (S. cerevisiae)"""	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.1221+1C>T	18.37:g.2595619C>T							p.A407V	NM_006101	NP_006092	O14777	NDC80_HUMAN			11	1402	+			407			Interaction with the N-terminus of CDCA1.|Interaction with PSMC2 and SMC1A.|Interaction with NEK2 and ZWINT.|Interaction with SMC1A.		Q6PJX2	Missense_Mutation	SNP	ENST00000261597.4	37	c.1220C>T	CCDS11827.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.677602	0.47886	2.27E-4	0.0	ENSG00000080986	ENST00000261597;ENST00000543946	T	0.45276	0.9	5.36	3.46	0.39613	.	0.394585	0.30959	N	0.008524	T	0.34135	0.0887	L	0.51422	1.61	0.35485	D	0.798485	B	0.27498	0.18	B	0.20955	0.032	T	0.43081	-0.9413	10	0.38643	T	0.18	0.0384	10.478	0.44676	0.0:0.793:0.134:0.0729	.	407	O14777	NDC80_HUMAN	V	407	ENSP00000261597:A407V	ENSP00000261597:A407V	A	+	2	0	NDC80	2585619	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	1.405000	0.34635	1.259000	0.44117	0.650000	0.86243	GCG		0.408	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1		NM_006101	Missense_Mutation	16	41	0	0	0	0.004007	0	16	41		
LAMA3	3909	broad.mit.edu	37	18	21474922	21474922	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr18:21474922A>T	ENST00000313654.9	+	44	5754	c.5513A>T	c.(5512-5514)gAg>gTg	p.E1838V	LAMA3_ENST00000587184.1_Missense_Mutation_p.E229V|LAMA3_ENST00000269217.6_Missense_Mutation_p.E229V|LAMA3_ENST00000399516.3_Missense_Mutation_p.E1838V|AC010754.1_ENST00000408462.1_RNA	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1838	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.E1838V(1)|p.E229V(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					ACCATGGGCGAGCAGCTCCGC	0.627																																						uc002kuq.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(5512-5514)GAG>GTG		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						54.0	45.0	48.0					18																	21474922		2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21474922A>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.5513A>T	18.37:g.21474922A>T	ENSP00000324532:p.Glu1838Val					LAMA3_uc002kur.2_Missense_Mutation_p.E1838V|LAMA3_uc002kus.3_Missense_Mutation_p.E229V|LAMA3_uc002kut.3_Missense_Mutation_p.E229V	p.E1838V	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			44	5599	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1838			Domain II and I.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.5513A>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.992738	0.74703	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.19669	2.13;2.15;3.65	5.91	4.76	0.60689	.	.	.	.	.	T	0.20618	0.0496	L	0.40543	1.245	0.32746	N	0.507069	P;P;P;P	0.52316	0.475;0.536;0.918;0.952	B;B;P;P	0.44477	0.188;0.243;0.451;0.451	T	0.19679	-1.0298	9	0.42905	T	0.14	.	11.0932	0.48128	0.9265:0.0:0.0735:0.0	.	229;229;1838;1838	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	V	1838;1838;229	ENSP00000324532:E1838V;ENSP00000382432:E1838V;ENSP00000269217:E229V	ENSP00000269217:E229V	E	+	2	0	LAMA3	19728920	0.974000	0.33945	0.499000	0.27577	0.988000	0.76386	4.020000	0.57189	1.068000	0.40764	0.533000	0.62120	GAG		0.627	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3		NM_000227, NM_198129		3	25	0	0	0	0.009096	0	3	25		
ZNF555	148254	broad.mit.edu	37	19	2851495	2851495	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:2851495T>A	ENST00000334241.4	+	3	298	c.160T>A	c.(160-162)Tca>Aca	p.S54T	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.S54T	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	54	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S54T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCAGTGGGTCAGTTTCTCA	0.388																																						uc002lwo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(160-162)TCA>ACA		zinc finger protein 555							70.0	68.0	69.0					19																	2851495		2203	4300	6503	SO:0001583	missense	148254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2851495T>A	AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"""Zinc fingers, C2H2-type"", ""-"""	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.160T>A	19.37:g.2851495T>A	ENSP00000334853:p.Ser54Thr					ZNF555_uc002lwn.3_Missense_Mutation_p.S54T	p.S54T	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	249	+			54			KRAB.		A8KA89|K7EQM2|Q8NA46|Q96MP1	Missense_Mutation	SNP	ENST00000334241.4	37	c.160T>A	CCDS12096.1	.	.	.	.	.	.	.	.	.	.	T	7.831	0.719914	0.15372	.	.	ENSG00000186300	ENST00000334241;ENST00000382127	T	0.06449	3.3	2.98	0.826	0.18829	Krueppel-associated box (3);	.	.	.	.	T	0.07369	0.0186	N	0.14661	0.345	0.09310	N	1	D;P	0.63880	0.993;0.544	D;B	0.68192	0.956;0.191	T	0.33369	-0.9871	9	0.15499	T	0.54	.	3.0287	0.06099	0.0:0.2693:0.2299:0.5009	.	54;54	Q8NEP9;A8KA89	ZN555_HUMAN;.	T	54	ENSP00000334853:S54T	ENSP00000334853:S54T	S	+	1	0	ZNF555	2802495	0.000000	0.05858	0.002000	0.10522	0.955000	0.61496	-0.070000	0.11523	0.005000	0.14708	0.454000	0.30748	TCA		0.388	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3		NM_152791		3	45	0	0	0	0.009096	0	3	45		
CACTIN	58509	broad.mit.edu	37	19	3612107	3612107	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:3612107C>A	ENST00000429344.2	-	10	2143	c.2091G>T	c.(2089-2091)gaG>gaT	p.E697D	CACTIN_ENST00000248420.5_Missense_Mutation_p.E697D|CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000221899.3_Missense_Mutation_p.E629D	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	697					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E629D(1)|p.E697D(1)									CGGCGCAGGCCTCCAGGAAGT	0.582																																						uc002lyh.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(2089-2091)GAG>GAT		chromosome 19 open reading frame 29							124.0	143.0	137.0					19																	3612107		2102	4206	6308	SO:0001583	missense	58509					catalytic step 2 spliceosome	protein binding	g.chr19:3612107C>A	BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"""NY REN 24 antigen"", ""functional spliceosome-associated protein c"", ""cactin homolog (Drosophila)"""		"""chromosome 19 open reading frame 29"""	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.2091G>T	19.37:g.3612107C>A	ENSP00000415078:p.Glu697Asp					C19orf29_uc010xho.1_Missense_Mutation_p.E156D|C19orf29_uc010dtn.2_Missense_Mutation_p.E545D|C19orf29_uc002lyi.3_Missense_Mutation_p.E697D|C19orf29_uc010dto.2_RNA	p.E697D	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	10	2144	-		Hepatocellular(1079;0.137)	697					A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Missense_Mutation	SNP	ENST00000429344.2	37	c.2091G>T	CCDS45920.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.56|18.56	3.649410|3.649410	0.67358|0.67358	.|.	.|.	ENSG00000105298|ENSG00000226800	ENST00000429344;ENST00000248420;ENST00000221899|ENST00000447295	.|.	.|.	.|.	4.27|4.27	2.08|2.08	0.27032|0.27032	Cactin protein, cactus-binding domain, C-terminal (1);|.	0.116173|.	0.56097|.	D|.	0.000027|.	T|T	0.57636|0.57636	0.2067|0.2067	M|M	0.62016|0.62016	1.91|1.91	0.49483|0.49483	D|D	0.999791|0.999791	B;P|.	0.50066|.	0.33;0.931|.	B;P|.	0.57283|.	0.257;0.817|.	T|T	0.52064|0.52064	-0.8625|-0.8625	9|6	0.29301|0.37606	T|T	0.29|0.19	.|.	5.1054|5.1054	0.14781|0.14781	0.0:0.6356:0.1749:0.1895|0.0:0.6356:0.1749:0.1895	.|.	697;697|.	Q8WUQ7-2;Q8WUQ7|.	.;CS029_HUMAN|.	D|I	697;697;629|127	.|.	ENSP00000221899:E629D|ENSP00000412459:L127I	E|L	-|+	3|1	2|0	C19orf29|C19orf29OS	3563107|3563107	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.965000|0.965000	0.64279|0.64279	2.339000|2.339000	0.43965|0.43965	0.538000|0.538000	0.28769|0.28769	0.638000|0.638000	0.83543|0.83543	GAG|CTC		0.582	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457370.2				17	181	1	0	3.41278e-10	0.00499	3.98487e-10	17	181		
ECSIT	51295	broad.mit.edu	37	19	11624758	11624758	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:11624758G>C	ENST00000270517.7	-	3	510	c.375C>G	c.(373-375)gaC>gaG	p.D125E	ECSIT_ENST00000591352.1_5'Flank|ECSIT_ENST00000591104.1_Missense_Mutation_p.D125E|ECSIT_ENST00000588998.1_Intron|RN7SL833P_ENST00000498758.2_RNA|ECSIT_ENST00000592312.1_Missense_Mutation_p.D9E|ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000252440.7_Missense_Mutation_p.D125E	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	125					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.D125E(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						ACACAGCCAGGTCCCGCTCGA	0.597																																						uc002msb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(373-375)GAC>GAG		evolutionarily conserved signaling intermediate							132.0	92.0	106.0					19																	11624758		2203	4300	6503	SO:0001583	missense	51295				innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding	g.chr19:11624758G>C	BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"""Mitochondrial respiratory chain complex assembly factors"""	29548	protein-coding gene	gene with protein product	"""signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"""	608388	"""ECSIT homolog (Drosophila)"""			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.375C>G	19.37:g.11624758G>C	ENSP00000270517:p.Asp125Glu					ECSIT_uc002msa.1_5'Flank|ECSIT_uc010dyc.1_Missense_Mutation_p.D125E|ECSIT_uc010dyd.2_Missense_Mutation_p.D125E|ECSIT_uc010xma.1_Intron	p.D125E	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN			3	509	-			125					E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Missense_Mutation	SNP	ENST00000270517.7	37	c.375C>G	CCDS12262.1	.	.	.	.	.	.	.	.	.	.	g	18.24	3.580483	0.65992	.	.	ENSG00000130159	ENST00000270517;ENST00000252440	D;D	0.87809	-2.3;-2.3	5.71	2.01	0.26516	.	0.000000	0.85682	D	0.000000	D	0.92384	0.7583	M	0.81497	2.545	0.48511	D	0.999663	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92333	0.5875	10	0.87932	D	0	-43.1707	11.5378	0.50648	0.2375:0.0:0.7625:0.0	.	125;125	Q9BQ95-2;Q9BQ95	.;ECSIT_HUMAN	E	125	ENSP00000270517:D125E;ENSP00000252440:D125E	ENSP00000252440:D125E	D	-	3	2	ECSIT	11485758	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	2.757000	0.47557	0.782000	0.33613	-0.283000	0.09986	GAC		0.597	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2		NM_016581		6	56	0	0	0	0.001984	0	6	56		
ZNF563	147837	broad.mit.edu	37	19	12430206	12430206	+	Silent	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:12430206T>C	ENST00000293725.5	-	4	838	c.633A>G	c.(631-633)ttA>ttG	p.L211L	ZNF563_ENST00000595977.1_Intron	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	211					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.L211L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GCATACGTAATAAACTGGGCC	0.393																																					GBM(39;623 795 5132 29510 31476)	uc002mtp.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(631-633)TTA>TTG		zinc finger protein 563							124.0	127.0	126.0					19																	12430206		2203	4300	6503	SO:0001819	synonymous_variant	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12430206T>C	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.633A>G	19.37:g.12430206T>C						ZNF563_uc002mtq.2_Intron	p.L211L	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN			4	871	-			211			C2H2-type 3.		B2R9E7|Q8NAT7	Silent	SNP	ENST00000293725.5	37	c.633A>G	CCDS12270.1																																																																																				0.393	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1		NM_145276		17	142	0	0	0	0.004007	0	17	142		
OR7A5	26659	broad.mit.edu	37	19	14938677	14938677	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:14938677A>G	ENST00000322301.3	-	2	464	c.377T>C	c.(376-378)aTc>aCc	p.I126T	OR7A5_ENST00000594432.1_Missense_Mutation_p.I126T|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	126					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I126T(1)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						GGGGTGACAGATGGCCACAAA	0.483																																						uc002mzw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(2)	2						c.(376-378)ATC>ACC		olfactory receptor, family 7, subfamily A,							105.0	95.0	98.0					19																	14938677		2203	4300	6503	SO:0001583	missense	26659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14938677A>G	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"""GPCR / Class A : Olfactory receptors"""	8368	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily A, member 5 pseudogene"""				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.377T>C	19.37:g.14938677A>G	ENSP00000316955:p.Ile126Thr					OR7A5_uc010xoa.1_Missense_Mutation_p.I126T	p.I126T	NM_017506	NP_059976	Q15622	OR7A5_HUMAN			1	600	-			126			Cytoplasmic (Potential).		B2R682|Q6IFP1|Q96R96	Missense_Mutation	SNP	ENST00000322301.3	37	c.377T>C	CCDS12318.1	.	.	.	.	.	.	.	.	.	.	a	13.79	2.340765	0.41498	.	.	ENSG00000188269	ENST00000322301	T	0.59224	0.28	3.13	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31784	U	0.007077	T	0.80149	0.4570	H	0.96175	3.78	0.39643	D	0.970343	D	0.71674	0.998	D	0.67231	0.95	D	0.84883	0.0832	10	0.87932	D	0	.	9.762	0.40537	1.0:0.0:0.0:0.0	.	126	Q15622	OR7A5_HUMAN	T	126	ENSP00000316955:I126T	ENSP00000316955:I126T	I	-	2	0	OR7A5	14799677	1.000000	0.71417	0.985000	0.45067	0.186000	0.23388	7.530000	0.81962	1.474000	0.48178	0.113000	0.15668	ATC		0.483	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1		NM_017506		22	38	0	0	0	0.014323	0	22	38		
OR10H4	126541	broad.mit.edu	37	19	16060285	16060285	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:16060285G>A	ENST00000322107.1	+	1	468	c.468G>A	c.(466-468)atG>atA	p.M156I		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M156I(1)		breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						GCTCAGTCATGGGGATGATGG	0.522																																						uc010xov.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(466-468)ATG>ATA		olfactory receptor, family 10, subfamily H,							208.0	174.0	185.0					19																	16060285		2203	4300	6503	SO:0001583	missense	126541				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:16060285G>A	AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"""GPCR / Class A : Olfactory receptors"""	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.468G>A	19.37:g.16060285G>A	ENSP00000318834:p.Met156Ile						p.M156I	NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN			1	468	+			156			Helical; Name=4; (Potential).		Q6IFJ2|Q96R57	Missense_Mutation	SNP	ENST00000322107.1	37	c.468G>A	CCDS32941.1	.	.	.	.	.	.	.	.	.	.	g	3.160	-0.172402	0.06421	.	.	ENSG00000176231	ENST00000322107	T	0.00044	8.83	1.53	1.53	0.23141	GPCR, rhodopsin-like superfamily (1);	0.131231	0.34002	N	0.004353	T	0.00039	0.0001	N	0.01431	-0.87	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.04413	-1.0953	10	0.22109	T	0.4	.	5.7094	0.17927	0.0:0.3455:0.6545:0.0	.	156	Q8NGA5	O10H4_HUMAN	I	156	ENSP00000318834:M156I	ENSP00000318834:M156I	M	+	3	0	OR10H4	15921285	0.000000	0.05858	0.887000	0.34795	0.578000	0.36192	-0.968000	0.03817	0.828000	0.34709	0.471000	0.43371	ATG		0.522	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460311.1				21	113	0	0	0	0.010504	0	21	113		
LSR	51599	broad.mit.edu	37	19	35757739	35757739	+	Splice_Site	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:35757739A>G	ENST00000361790.3	+	8	1316	c.1157A>G	c.(1156-1158)gAa>gGa	p.E386G	LSR_ENST00000360798.3_Splice_Site_p.E318G|USF2_ENST00000595068.1_5'Flank|USF2_ENST00000594064.1_5'Flank|LSR_ENST00000427250.1_Splice_Site_p.E230G|USF2_ENST00000343550.5_5'Flank|AD000684.2_ENST00000602262.1_RNA|LSR_ENST00000354900.3_Splice_Site_p.E367G|LSR_ENST00000602122.1_Intron|USF2_ENST00000222305.3_5'Flank|LSR_ENST00000347609.4_Intron|USF2_ENST00000379134.3_5'Flank	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	386					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)		p.E386G(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CTGTCCCTAGAAGTCCGCAGT	0.597																																						uc002nyl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1156-1158)GAA>GGA		lipolysis stimulated lipoprotein receptor							44.0	41.0	42.0					19																	35757739		2201	4300	6501	SO:0001630	splice_region_variant	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35757739A>G	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.1157-1A>G	19.37:g.35757739A>G						LSR_uc002nym.2_Missense_Mutation_p.E367G|LSR_uc002nyn.2_Missense_Mutation_p.E318G|LSR_uc002nyo.2_Intron|LSR_uc010xsr.1_Missense_Mutation_p.E278G|LSR_uc002nyp.2_Intron|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nys.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyu.1_5'Flank|USF2_uc002nyv.1_5'Flank	p.E386G	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		8	1380	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		386			Cytoplasmic (Potential).		A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Missense_Mutation	SNP	ENST00000361790.3	37	c.1157A>G	CCDS12450.1	.	.	.	.	.	.	.	.	.	.	A	8.373	0.835659	0.16820	.	.	ENSG00000105699	ENST00000361790;ENST00000354900;ENST00000360798;ENST00000427250	T;T;T;T	0.64438	0.47;0.63;0.31;-0.1	4.67	3.65	0.41850	.	0.498560	0.21231	N	0.077966	T	0.61874	0.2382	L	0.44542	1.39	0.25690	N	0.985699	B;P;B;B	0.45348	0.189;0.856;0.116;0.139	B;P;B;B	0.52217	0.039;0.693;0.058;0.055	T	0.52019	-0.8631	9	.	.	.	.	8.8799	0.35367	0.6278:0.3722:0.0:0.0	.	324;318;367;386	Q9BT33;A6NDW3;E9PHD4;Q86X29	.;.;.;LSR_HUMAN	G	386;367;318;230	ENSP00000354575:E386G;ENSP00000346976:E367G;ENSP00000354034:E318G;ENSP00000394479:E230G	.	E	+	2	0	LSR	40449579	.	.	0.181000	0.23098	0.004000	0.04260	.	.	0.779000	0.33543	-0.313000	0.08912	GAA		0.597	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2		NM_015925	Missense_Mutation	6	6	0	0	0	0.004482	0	6	6		
CYP2A7	1549	broad.mit.edu	37	19	41383813	41383813	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:41383813A>C	ENST00000301146.4	-	6	1458	c.917T>G	c.(916-918)gTc>gGc	p.V306G	CYP2A7_ENST00000291764.3_Missense_Mutation_p.V255G|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	306						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)	p.V306G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGTGGTGCTGACCGTCTCGGT	0.587																																						uc002opm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						c.(916-918)GTC>GGC		cytochrome P450, family 2, subfamily A,							131.0	102.0	112.0					19																	41383813		2203	4299	6502	SO:0001583	missense	1549					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41383813A>C	NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"""Cytochrome P450s"""	2611	protein-coding gene	gene with protein product		608054	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"""			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.917T>G	19.37:g.41383813A>C	ENSP00000301146:p.Val306Gly					CYP2A7_uc002opo.2_Missense_Mutation_p.V306G|CYP2A7_uc002opn.2_Missense_Mutation_p.V255G	p.V306G	NM_000764	NP_000755	P20853	CP2A7_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		6	1459	-			306					Q13121	Missense_Mutation	SNP	ENST00000301146.4	37	c.917T>G	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	A	9.638	1.138267	0.21123	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.69175	5.0;-0.38	2.18	2.18	0.27775	.	0.149292	0.46145	U	0.000313	T	0.75488	0.3856	M	0.70595	2.14	0.41904	D	0.99043	P;B;D	0.76494	0.893;0.326;0.999	D;B;D	0.97110	0.924;0.162;1.0	T	0.74621	-0.3604	10	0.66056	D	0.02	.	5.3816	0.16194	0.8433:0.0:0.1567:0.0	.	306;255;306	B7ZKR0;F8W816;P20853	.;.;CP2A7_HUMAN	G	306;255	ENSP00000301146:V306G;ENSP00000291764:V255G	ENSP00000291764:V255G	V	-	2	0	CYP2A7	46075653	0.972000	0.33761	0.034000	0.17996	0.037000	0.13140	3.831000	0.55776	1.001000	0.39076	0.155000	0.16302	GTC		0.587	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2		NM_030589		11	56	0	0	0	0.010729	0	11	56		
FUT1	2523	broad.mit.edu	37	19	49253764	49253764	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:49253764C>G	ENST00000310160.3	-	4	1749	c.775G>C	c.(775-777)Gtg>Ctg	p.V259L	FUT1_ENST00000601931.1_5'Flank	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	259			V -> E (in Bombay H-). {ECO:0000269|PubMed:9122901}.		carbohydrate metabolic process (GO:0005975)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)	p.V259L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		CTGGTGACCACGAAAACGGGG	0.617																																						uc002pkk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(775-777)GTG>CTG		fucosyltransferase 1							115.0	100.0	105.0					19																	49253764		2203	4300	6503	SO:0001583	missense	2523				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49253764C>G		CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2.4.1.69	"""Blood group antigens"", ""Fucosyltransferases"""	4012	protein-coding gene	gene with protein product		211100	"""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)"", ""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)"""	H, HSC			Standard	NM_000148		Approved		uc002pkk.3	P19526		ENST00000310160.3:c.775G>C	19.37:g.49253764C>G	ENSP00000312021:p.Val259Leu						p.V259L	NM_000148	NP_000139	P19526	FUT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)	4	1750	-		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	259		V -> E (in Bombay H-).	Lumenal (Potential).		O14505|O14506|O14507	Missense_Mutation	SNP	ENST00000310160.3	37	c.775G>C	CCDS12733.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671826	0.47781	.	.	ENSG00000174951	ENST00000310160;ENST00000539428	D	0.97161	-4.27	4.46	3.35	0.38373	.	0.000000	0.46145	D	0.000306	D	0.98292	0.9434	M	0.87758	2.905	0.36879	D	0.889315	D	0.89917	1.0	D	0.91635	0.999	D	0.99844	1.1064	10	0.87932	D	0	-12.213	12.4	0.55407	0.0:0.8285:0.1715:0.0	.	259	P19526	FUT1_HUMAN	L	259;249	ENSP00000312021:V259L	ENSP00000312021:V259L	V	-	1	0	FUT1	53945576	0.990000	0.36364	1.000000	0.80357	0.022000	0.10575	3.062000	0.49971	2.497000	0.84241	0.557000	0.71058	GTG		0.617	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466194.1		NM_000148		5	122	0	0	0	0.000602	0	5	122		
PLEKHA4	57664	broad.mit.edu	37	19	49348658	49348658	+	Missense_Mutation	SNP	C	C	T	rs201263085	byFrequency	TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:49348658C>T	ENST00000263265.6	-	16	2267	c.1712G>A	c.(1711-1713)cGc>cAc	p.R571H	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R546H	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	571						cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)	p.R571H(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		AGGGAGGTGGCGACCCTCAGG	0.582													.|||	7	0.00139776	0.0	0.0	5008	,	,		8680	0.0069		0.0	False		,,,				2504	0.0					uc002pkx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1711-1713)CGC>CAC		pleckstrin homology domain containing family A							95.0	96.0	96.0					19																	49348658		2203	4300	6503	SO:0001583	missense	57664					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49348658C>T	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.1712G>A	19.37:g.49348658C>T	ENSP00000263265:p.Arg571His					PLEKHA4_uc002pkw.1_Missense_Mutation_p.R86H|PLEKHA4_uc010eml.2_Missense_Mutation_p.R546H	p.R571H	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	16	2263	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	571					Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	37	c.1712G>A	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	c	8.369	0.834953	0.16820	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.26067	1.76;1.76	4.97	-5.83	0.02325	.	1.243130	0.05703	N	0.594476	T	0.12603	0.0306	N	0.17082	0.46	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.04013	0.001;0.001	T	0.34502	-0.9826	10	0.15499	T	0.54	.	8.438	0.32799	0.0:0.1876:0.1422:0.6702	.	546;571	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	H	571;546	ENSP00000263265:R571H;ENSP00000347683:R546H	ENSP00000263265:R571H	R	-	2	0	PLEKHA4	54040470	0.000000	0.05858	0.006000	0.13384	0.205000	0.24178	-2.256000	0.01181	-0.803000	0.04415	-0.282000	0.10007	CGC		0.582	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1				55	14	0	0	0	0.01441	0	55	14		
NOSIP	51070	broad.mit.edu	37	19	50060221	50060221	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:50060221G>A	ENST00000596358.1	-	6	506	c.448C>T	c.(448-450)Cct>Tct	p.P150S	NOSIP_ENST00000391853.3_Missense_Mutation_p.P150S|NOSIP_ENST00000339093.3_Missense_Mutation_p.P153S	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	150					negative regulation of catalytic activity (GO:0043086)|negative regulation of nitric-oxide synthase activity (GO:0051001)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.P150S(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		TTACTTGGAGGACCCACACTG	0.677																																						uc002pok.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(448-450)CCT>TCT		nitric oxide synthase interacting protein							33.0	30.0	31.0					19																	50060221		2203	4299	6502	SO:0001583	missense	51070				negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding	g.chr19:50060221G>A	AF132959	CCDS12772.1	19q13.3	2008-02-05				ENSG00000142546			17946	protein-coding gene	gene with protein product						11149895, 10810093	Standard	NM_015953		Approved	CGI-25	uc002pol.4	Q9Y314		ENST00000596358.1:c.448C>T	19.37:g.50060221G>A	ENSP00000470034:p.Pro150Ser					NOSIP_uc002pol.2_Missense_Mutation_p.P150S|NOSIP_uc010yay.1_RNA	p.P150S	NM_015953	NP_057037	Q9Y314	NOSIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)	7	600	-		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	150					Q96FD2	Missense_Mutation	SNP	ENST00000596358.1	37	c.448C>T	CCDS12772.1	.	.	.	.	.	.	.	.	.	.	G	5.128	0.209207	0.09757	.	.	ENSG00000142546	ENST00000339093;ENST00000391853	T	0.74947	-0.89	4.62	2.38	0.29361	.	0.428375	0.24467	N	0.038269	T	0.44726	0.1307	N	0.01438	-0.865	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.21586	-1.0241	10	0.12766	T	0.61	-6.9882	13.5776	0.61883	0.0:0.3306:0.6694:0.0	.	150	Q9Y314	NOSIP_HUMAN	S	150	ENSP00000375726:P150S	ENSP00000343497:P150S	P	-	1	0	NOSIP	54752033	0.468000	0.25839	0.004000	0.12327	0.568000	0.35870	1.842000	0.39250	0.511000	0.28236	0.462000	0.41574	CCT		0.677	NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465423.1				5	9	0	0	0	0.000602	0	5	9		
GPR32	2854	broad.mit.edu	37	19	51274695	51274695	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:51274695C>T	ENST00000270590.4	+	1	975	c.838C>T	c.(838-840)Ctg>Ttg	p.L280L		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	280					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.L280L(1)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GTTGGTCCATCTGTGGCGACG	0.592																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	uc010ycf.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	upper_aerodigestive_tract(1)	1						c.(838-840)CTG>TTG		G protein-coupled receptor 32							93.0	92.0	92.0					19																	51274695		2203	4300	6503	SO:0001819	synonymous_variant	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274695C>T	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.838C>T	19.37:g.51274695C>T							p.L280L	NM_001506	NP_001497	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	838	+		all_neural(266;0.131)	280			Helical; Name=6; (Potential).		Q502U7|Q6NWS5	Silent	SNP	ENST00000270590.4	37	c.838C>T	CCDS12801.1																																																																																				0.592	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1				81	25	0	0	0	0.01441	0	81	25		
VSTM1	284415	broad.mit.edu	37	19	54561828	54561828	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:54561828G>A	ENST00000338372.2	-	3	262	c.87C>T	c.(85-87)ccC>ccT	p.P29P	VSTM1_ENST00000366170.2_Intron|VSTM1_ENST00000376626.1_Silent_p.P29P|VSTM1_ENST00000425006.2_Silent_p.P29P	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	29	Ig-like V-type.				immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.P29P(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)		CGTGGAGGGAGGGCTTGGGCG	0.498																																						uc002qcw.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(85-87)CCC>CCT		V-set and transmembrane domain containing 1							83.0	90.0	88.0					19																	54561828		2203	4300	6503	SO:0001819	synonymous_variant	284415					integral to membrane		g.chr19:54561828G>A	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.87C>T	19.37:g.54561828G>A						VSTM1_uc010erb.2_RNA|VSTM1_uc002qcx.3_Silent_p.P29P	p.P29P	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN		GBM - Glioblastoma multiforme(134;0.165)	3	263	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		29			Ig-like V-type.		B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Silent	SNP	ENST00000338372.2	37	c.87C>T	CCDS12872.1																																																																																				0.498	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3		NM_198481		10	70	0	0	0	0.008291	0	10	70		
NLRP7	199713	broad.mit.edu	37	19	55450590	55450590	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:55450590C>G	ENST00000590030.1	-	3	1637	c.1597G>C	c.(1597-1599)Gag>Cag	p.E533Q	NLRP7_ENST00000448121.2_Missense_Mutation_p.E533Q|NLRP7_ENST00000328092.5_Missense_Mutation_p.E533Q|NLRP7_ENST00000446217.1_Missense_Mutation_p.E561Q|NLRP7_ENST00000592784.1_Missense_Mutation_p.E533Q|NLRP7_ENST00000340844.2_Missense_Mutation_p.E533Q|NLRP7_ENST00000588756.1_Missense_Mutation_p.E533Q			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	533							ATP binding (GO:0005524)	p.E533Q(2)|p.E533K(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCCTCCAACTCCTTGGCTCTC	0.498																																						uc002qih.3		NaN																	3	Substitution - Missense(3)		urinary_tract(2)|upper_aerodigestive_tract(1)	large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(1597-1599)GAG>CAG		NACHT, leucine rich repeat and PYD containing 7							74.0	76.0	76.0					19																	55450590		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55450590C>G	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1597G>C	19.37:g.55450590C>G	ENSP00000465520:p.Glu533Gln					NLRP7_uc002qig.3_Missense_Mutation_p.E533Q|NLRP7_uc002qii.3_Missense_Mutation_p.E533Q|NLRP7_uc010esk.2_Missense_Mutation_p.E533Q|NLRP7_uc010esl.2_Missense_Mutation_p.E561Q	p.E533Q	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	1673	-			533					E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.1597G>C	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.255901	0.22965	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.73681	-0.74;-0.74;-0.77;-0.74	2.34	1.28	0.21552	.	0.000000	0.33753	N	0.004596	T	0.74152	0.3679	L	0.41124	1.26	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.998;0.999	T	0.60984	-0.7154	10	0.25751	T	0.34	.	5.0889	0.14698	0.0:0.8256:0.0:0.1744	.	561;533;533;533	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	Q	533;533;533;561;300	ENSP00000329568:E533Q;ENSP00000409137:E533Q;ENSP00000339491:E533Q;ENSP00000414273:E561Q	ENSP00000329568:E533Q	E	-	1	0	NLRP7	60142402	0.000000	0.05858	0.002000	0.10522	0.021000	0.10359	-0.452000	0.06787	0.552000	0.29026	0.462000	0.41574	GAG		0.498	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1		NM_139176		3	66	0	0	0	0.004672	0	3	66		
U2AF2	11338	broad.mit.edu	37	19	56181003	56181003	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:56181003A>G	ENST00000308924.4	+	11	1278	c.1238A>G	c.(1237-1239)aAg>aGg	p.K413R	CTD-2537I9.13_ENST00000592252.1_RNA|U2AF2_ENST00000450554.2_Missense_Mutation_p.K409R|CTD-2537I9.12_ENST00000585940.1_RNA|CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000590551.1_Missense_Mutation_p.K245R			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	413	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K413R(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GGGCTTGTCAAGTCCATCGAG	0.642																																						uc002qlu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1237-1239)AAG>AGG		U2 (RNU2) small nuclear RNA auxiliary factor 2							162.0	143.0	149.0					19																	56181003		2203	4300	6503	SO:0001583	missense	11338				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	g.chr19:56181003A>G	BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"""RNA binding motif (RRM) containing"""	23156	protein-coding gene	gene with protein product	"""U2 small nuclear ribonucleoprotein auxiliary factor (65kD)"", ""splicing factor U2AF 65 kD subunit"", ""U2 snRNP auxiliary factor large subunit"""	191318	"""U2 (RNU2) small nuclear RNA auxiliary factor 2"""			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.1238A>G	19.37:g.56181003A>G	ENSP00000307863:p.Lys413Arg					U2AF2_uc002qlt.2_Missense_Mutation_p.K409R	p.K413R	NM_007279	NP_009210	P26368	U2AF2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	11	2293	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	413			RRM 3.		Q96HC5	Missense_Mutation	SNP	ENST00000308924.4	37	c.1238A>G	CCDS12933.1	.	.	.	.	.	.	.	.	.	.	A	10.22	1.289097	0.23478	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	T;T	0.17528	2.27;2.27	4.19	3.16	0.36331	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.10121	0.0248	N	0.21545	0.675	0.46185	D	0.998919	B;B	0.06786	0.001;0.0	B;B	0.12156	0.007;0.003	T	0.16305	-1.0407	10	0.14656	T	0.56	-36.1529	9.2905	0.37784	0.8384:0.0:0.0:0.1616	.	413;409	P26368;P26368-2	U2AF2_HUMAN;.	R	413;409	ENSP00000307863:K413R;ENSP00000388475:K409R	ENSP00000307863:K413R	K	+	2	0	U2AF2	60872815	1.000000	0.71417	0.986000	0.45419	0.954000	0.61252	5.675000	0.68123	0.751000	0.32900	0.533000	0.62120	AAG		0.642	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1		NM_007279		23	12	0	0	0	0.00632	0	23	12		
NLRP4	147945	broad.mit.edu	37	19	56369479	56369479	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:56369479G>C	ENST00000301295.6	+	3	1142	c.720G>C	c.(718-720)ttG>ttC	p.L240F	NLRP4_ENST00000587891.1_Missense_Mutation_p.L165F|NLRP4_ENST00000346986.5_Missense_Mutation_p.L240F	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	240	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.L240F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGGGCGGCTTGAACGAACCCG	0.567																																						uc002qmd.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(718-720)TTG>TTC		NLR family, pyrin domain containing 4							81.0	84.0	83.0					19																	56369479		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56369479G>C	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.720G>C	19.37:g.56369479G>C	ENSP00000301295:p.Leu240Phe					NLRP4_uc002qmf.2_Missense_Mutation_p.L165F|NLRP4_uc010etf.2_Missense_Mutation_p.L71F	p.L240F	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1142	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	240			NACHT.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.720G>C	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	9.876	1.200206	0.22121	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.80033	-1.33;-1.33	4.1	0.393	0.16294	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.66127	0.2758	N	0.25060	0.705	0.09310	N	1	P;P;B	0.39480	0.675;0.526;0.427	B;B;B	0.43658	0.426;0.141;0.221	T	0.56086	-0.8037	9	0.33141	T	0.24	.	0.9391	0.01351	0.2126:0.1829:0.4163:0.1882	.	240;165;240	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	F	240	ENSP00000301295:L240F;ENSP00000344787:L240F	ENSP00000301295:L240F	L	+	3	2	NLRP4	61061291	0.000000	0.05858	0.023000	0.16930	0.015000	0.08874	-0.198000	0.09505	0.464000	0.27142	0.655000	0.94253	TTG		0.567	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2		NM_134444		26	61	0	0	0	0.005443	0	26	61		
ZIM2	23619	broad.mit.edu	37	19	57286539	57286539	+	Silent	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:57286539G>C	ENST00000391708.3	-	12	1643	c.1101C>G	c.(1099-1101)ctC>ctG	p.L367L	ZIM2_ENST00000593711.1_Silent_p.L367L|ZIM2_ENST00000221722.5_Silent_p.L367L|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000601070.1_Silent_p.L367L|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Silent_p.L367L	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	367					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.L367L(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)		GGTGTGGCATGAGATAGAAGG	0.478																																						uc002qnr.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)	3						c.(1099-1101)CTC>CTG		zinc finger, imprinted 2							128.0	111.0	117.0					19																	57286539		2203	4300	6503	SO:0001819	synonymous_variant	23619				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57286539G>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.1101C>G	19.37:g.57286539G>C						uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Silent_p.L163L|ZIM2_uc010ygr.1_Silent_p.L163L|ZIM2_uc002qnq.2_Silent_p.L367L|ZIM2_uc010etp.2_Silent_p.L367L|ZIM2_uc010ygs.1_Silent_p.L367L	p.L367L	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN		GBM - Glioblastoma multiforme(193;0.0314)	11	1483	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	367			C2H2-type 2.		Q2M3K1	Silent	SNP	ENST00000391708.3	37	c.1101C>G	CCDS33123.1																																																																																				0.478	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2				6	96	0	0	0	0.00308	0	6	96		
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						uc002qqo.2		NaN																	10	Substitution - Missense(10)		urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)		0						c.(1210-1212)GAC>GAA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	p.D404E	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN			3	1484	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1		XM_001725708		3	8	1	0	0.004672	0.004672	0.00486466	3	8		
ZNF418	147686	broad.mit.edu	37	19	58438177	58438177	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:58438177C>G	ENST00000396147.1	-	4	1663	c.1372G>C	c.(1372-1374)Gag>Cag	p.E458Q	ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000425570.3_Missense_Mutation_p.E479Q|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000599852.1_Missense_Mutation_p.E373Q|ZNF418_ENST00000595830.1_Missense_Mutation_p.E458Q	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	458					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.E458Q(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TTCCTACACTCTCTACACTCA	0.443																																						uc002qqs.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1372-1374)GAG>CAG		zinc finger protein 418							119.0	128.0	125.0					19																	58438177		2202	4299	6501	SO:0001583	missense	147686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58438177C>G	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.1372G>C	19.37:g.58438177C>G	ENSP00000379451:p.Glu458Gln					ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.E373Q	p.E458Q	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)	4	1664	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	458			C2H2-type 10.		Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	ENST00000396147.1	37	c.1372G>C	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	12.40	1.927799	0.34002	.	.	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.07444	3.19;3.19	2.38	-3.23	0.05109	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12220	0.0297	L	0.52266	1.64	0.09310	N	1	P	0.51933	0.949	P	0.55508	0.777	T	0.16958	-1.0385	9	0.33141	T	0.24	.	5.2635	0.15586	0.0:0.523:0.156:0.321	.	458	Q8TF45	ZN418_HUMAN	Q	458;479;424	ENSP00000379451:E458Q;ENSP00000407039:E479Q	ENSP00000379451:E458Q	E	-	1	0	ZNF418	63129989	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-1.565000	0.02150	-0.463000	0.06973	0.289000	0.19496	GAG		0.443	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1		NM_133460		96	44	0	0	0	0.01441	0	96	44		
RHOB	388	broad.mit.edu	37	2	20647450	20647450	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:20647450C>T	ENST00000272233.4	+	1	616	c.224C>T	c.(223-225)cCg>cTg	p.P75L		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	75					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|GTP catabolic process (GO:0006184)|negative regulation of cell cycle (GO:0045786)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|transformed cell apoptotic process (GO:0006927)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.P75L(1)		breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	Botulinum Toxin Type A(DB00083)	CTCTCCTACCCGGACACCGAC	0.647																																						uc002rdv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|lung(1)	2						c.(223-225)CCG>CTG		ras homolog gene family, member B precursor							74.0	88.0	83.0					2																	20647450		2203	4300	6503	SO:0001583	missense	388				angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr2:20647450C>T		CCDS1699.1	2p24	2012-02-27	2012-02-27	2004-03-24	ENSG00000143878	ENSG00000143878			668	protein-coding gene	gene with protein product	"""oncogene RHO H6"""	165370	"""ras homolog gene family, member B"""	ARH6, ARHB		3283705, 16278215	Standard	NM_004040		Approved	RhoB, RHOH6, MST081	uc002rdv.3	P62745	OTTHUMG00000090755	ENST00000272233.4:c.224C>T	2.37:g.20647450C>T	ENSP00000272233:p.Pro75Leu						p.P75L	NM_004040	NP_004031	P62745	RHOB_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	1	616	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)	75					B2R692|P01121|Q5U0H6|Q7RTN5|Q7RTR9|Q9CUV7	Missense_Mutation	SNP	ENST00000272233.4	37	c.224C>T	CCDS1699.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013271	0.54468	.	.	ENSG00000143878	ENST00000272233	T	0.69685	-0.42	5.06	4.17	0.49024	Small GTP-binding protein domain (1);	0.067558	0.64402	U	0.000013	T	0.76593	0.4009	M	0.85710	2.77	0.80722	D	1	D	0.57257	0.979	P	0.50082	0.63	T	0.81949	-0.0699	10	0.66056	D	0.02	-16.965	15.1114	0.72359	0.1428:0.8572:0.0:0.0	.	75	P62745	RHOB_HUMAN	L	75	ENSP00000272233:P75L	ENSP00000272233:P75L	P	+	2	0	RHOB	20510931	1.000000	0.71417	0.994000	0.49952	0.016000	0.09150	7.668000	0.83897	1.252000	0.44001	0.563000	0.77884	CCG		0.647	RHOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207500.1		NM_004040		22	65	0	0	0	0.012319	0	22	65		
ASXL2	55252	broad.mit.edu	37	2	25965729	25965729	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:25965729C>G	ENST00000435504.4	-	13	3770	c.3477G>C	c.(3475-3477)ttG>ttC	p.L1159F	ASXL2_ENST00000272341.4_Missense_Mutation_p.L642F|ASXL2_ENST00000336112.4_Missense_Mutation_p.L1131F|ASXL2_ENST00000404843.1_Missense_Mutation_p.L642F			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	1159					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)	p.L1159F(1)|p.L642F(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCCCATTTTCAAGGCTTCAG	0.458																																						uc002rgs.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	pancreas(1)	1						c.(3475-3477)TTG>TTC		additional sex combs like 2							101.0	99.0	99.0					2																	25965729		1912	4137	6049	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25965729C>G			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.3477G>C	2.37:g.25965729C>G	ENSP00000391447:p.Leu1159Phe					ASXL2_uc002rgt.1_Missense_Mutation_p.L642F	p.L1159F	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN			12	3698	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1159					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.3477G>C		.	.	.	.	.	.	.	.	.	.	C	10.91	1.483730	0.26598	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	6.02	-0.326	0.12698	.	0.520391	0.19048	N	0.124102	T	0.13884	0.0336	L	0.53249	1.67	0.25935	N	0.982942	B;B	0.33637	0.42;0.028	B;B	0.28232	0.087;0.012	T	0.14531	-1.0469	10	0.54805	T	0.06	-1.6474	2.064	0.03598	0.1384:0.2811:0.1219:0.4586	.	642;1159	Q76L83-2;Q76L83	.;ASXL2_HUMAN	F	1159;1131;642;642	ENSP00000391447:L1159F;ENSP00000337250:L1131F;ENSP00000383920:L642F;ENSP00000272341:L642F	ENSP00000272341:L642F	L	-	3	2	ASXL2	25819233	0.000000	0.05858	0.998000	0.56505	0.998000	0.95712	-0.727000	0.04931	0.154000	0.19237	0.655000	0.94253	TTG		0.458	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3		NM_018263		27	60	0	0	0	0.004656	0	27	60		
BIRC6	57448	broad.mit.edu	37	2	32716552	32716552	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:32716552C>G	ENST00000421745.2	+	44	8401	c.8267C>G	c.(8266-8268)cCa>cGa	p.P2756R		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2756					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.P2728R(1)|p.P2756R(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTTTCAGATCCAAACCTAATT	0.388																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(8266-8268)CCA>CGA		baculoviral IAP repeat-containing 6							151.0	136.0	141.0					2																	32716552		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32716552C>G	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.8267C>G	2.37:g.32716552C>G	ENSP00000393596:p.Pro2756Arg						p.P2756R	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			44	8401	+	Acute lymphoblastic leukemia(172;0.155)		2756					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.8267C>G	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878062	0.72294	.	.	ENSG00000115760	ENST00000421745	T	0.73469	-0.75	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.60843	0.2300	N	0.08118	0	0.80722	D	1	P	0.44877	0.845	B	0.43478	0.421	T	0.60203	-0.7309	10	0.17369	T	0.5	.	19.8595	0.96778	0.0:1.0:0.0:0.0	.	2756	Q9NR09	BIRC6_HUMAN	R	2756	ENSP00000393596:P2756R	ENSP00000393596:P2756R	P	+	2	0	BIRC6	32570056	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.521000	0.67086	2.701000	0.92244	0.460000	0.39030	CCA		0.388	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252		34	57	0	0	0	0.013726	0	34	57		
FSHR	2492	broad.mit.edu	37	2	49190073	49190073	+	Silent	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:49190073A>G	ENST00000406846.2	-	10	2006	c.1887T>C	c.(1885-1887)ttT>ttC	p.F629F	FSHR_ENST00000346173.3_Silent_p.F567F|FSHR_ENST00000304421.4_Silent_p.F603F|FSHR_ENST00000541117.1_Silent_p.F365F	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	629					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.F629F(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	AGTTTTTGGTAAAGATGGCAT	0.468									Gonadal Dysgenesis, 46 XX																													uc002rww.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(1885-1887)TTT>TTC		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						81.0	83.0	83.0					2																	49190073		2203	4300	6503	SO:0001819	synonymous_variant	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49190073A>G		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1887T>C	2.37:g.49190073A>G						FSHR_uc002rwx.2_Silent_p.F567F|FSHR_uc010fbn.2_Silent_p.F603F	p.F629F	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1961	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	629			Helical; Name=7; (Potential).		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Silent	SNP	ENST00000406846.2	37	c.1887T>C	CCDS1843.1																																																																																				0.468	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2				5	37	0	0	0	0.000602	0	5	37		
PSME4	23198	broad.mit.edu	37	2	54093286	54093286	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:54093286G>A	ENST00000404125.1	-	46	5527	c.5472C>T	c.(5470-5472)ttC>ttT	p.F1824F	PSME4_ENST00000476586.1_5'UTR|PSME4_ENST00000421748.2_Silent_p.F968F	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1824					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.F1824F(1)|p.F1710F(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGTCATCAGTGAATTGCTGTT	0.398																																						uc002rxp.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(2)|breast(2)|pancreas(1)	5						c.(5470-5472)TTC>TTT		proteasome (prosome, macropain) activator							270.0	240.0	250.0					2																	54093286		2203	4300	6503	SO:0001819	synonymous_variant	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54093286G>A	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.5472C>T	2.37:g.54093286G>A						PSME4_uc010yop.1_Silent_p.F1714F|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Silent_p.F1199F|PSME4_uc010fbv.1_Silent_p.F968F|PSME4_uc010fbt.1_Silent_p.F259F	p.F1824F	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		46	5528	-			1824					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	37	c.5472C>T	CCDS33197.2																																																																																				0.398	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1		XM_040158		23	78	0	0	0	0.003954	0	23	78		
MEIS1	4211	broad.mit.edu	37	2	66775088	66775088	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:66775088C>T	ENST00000272369.9	+	9	1359	c.902C>T	c.(901-903)tCt>tTt	p.S301F	MEIS1_ENST00000409517.1_3'UTR|MEIS1_ENST00000407092.2_Missense_Mutation_p.S301F|MEIS1_ENST00000398506.2_Missense_Mutation_p.S299F|MEIS1_ENST00000495021.2_Missense_Mutation_p.S236F|MEIS1_ENST00000488550.1_Missense_Mutation_p.S301F|MEIS1_ENST00000444274.2_Silent_p.F220F|MEIS1_ENST00000560281.2_Missense_Mutation_p.S301F	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	301					angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)	p.S301F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						CCTTACCCTTCTGAAGAACAG	0.383																																						uc002sdu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(901-903)TCT>TTT		Meis homeobox 1							114.0	109.0	111.0					2																	66775088		1902	4125	6027	SO:0001583	missense	4211						sequence-specific DNA binding transcription factor activity	g.chr2:66775088C>T		CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"""Homeoboxes / TALE class"""	7000	protein-coding gene	gene with protein product		601739	"""Meis1 (mouse) homolog"", ""Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"""			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.902C>T	2.37:g.66775088C>T	ENSP00000272369:p.Ser301Phe					MEIS1_uc002sdt.2_Missense_Mutation_p.S301F|MEIS1_uc002sdv.2_Missense_Mutation_p.S299F|MEIS1_uc010yqh.1_RNA|MEIS1_uc010yqi.1_Missense_Mutation_p.S236F|MEIS1_uc002sdw.1_Missense_Mutation_p.S157F	p.S301F	NM_002398	NP_002389	O00470	MEIS1_HUMAN			9	1359	+			301			Homeobox; TALE-type.		A8MV50	Missense_Mutation	SNP	ENST00000272369.9	37	c.902C>T	CCDS46309.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968141	0.74131	.	.	ENSG00000143995	ENST00000272369;ENST00000407092;ENST00000398506;ENST00000495021;ENST00000402908;ENST00000409517;ENST00000450027	D;D;D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.43;-3.43;-3.43	5.67	5.67	0.87782	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.110568	0.64402	D	0.000005	D	0.98501	0.9500	H	0.97465	4.01	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.91635	0.996;0.998;0.999;0.996	D	0.99066	1.0832	10	0.87932	D	0	.	20.1313	0.98000	0.0:1.0:0.0:0.0	.	236;299;301;301	F5GYS8;O00470-2;O00470;F8W8U3	.;.;MEIS1_HUMAN;.	F	301;301;299;236;157;51;113	ENSP00000272369:S301F;ENSP00000384461:S301F;ENSP00000381518:S299F;ENSP00000440571:S236F;ENSP00000386708:S51F;ENSP00000395827:S113F	ENSP00000272369:S301F	S	+	2	0	MEIS1	66628592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.837000	0.97791	0.655000	0.94253	TCT		0.383	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319725.4		NM_002398		20	26	0	0	0	0.014323	0	20	26		
ARHGAP25	9938	broad.mit.edu	37	2	69015022	69015022	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:69015022A>T	ENST00000295381.3	+	4	819	c.400A>T	c.(400-402)Agc>Tgc	p.S134C	ARHGAP25_ENST00000409202.3_Missense_Mutation_p.S134C|ARHGAP25_ENST00000467265.1_Intron|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.S127C|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.S108C|ARHGAP25_ENST00000456116.2_Intron|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.S127C|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.S127C	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	134	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.S127C(1)|p.S134C(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CCTCATGGCCAGCTCTCAGGC	0.542																																						uc002seu.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|breast(2)	4						c.(400-402)AGC>TGC		Rho GTPase activating protein 25 isoform a							113.0	106.0	108.0					2																	69015022		2203	4300	6503	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69015022A>T	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.400A>T	2.37:g.69015022A>T	ENSP00000295381:p.Ser134Cys					ARHGAP25_uc010yqk.1_Missense_Mutation_p.S108C|ARHGAP25_uc010fdg.2_Missense_Mutation_p.S134C|ARHGAP25_uc010yql.1_Intron|ARHGAP25_uc002sev.2_Missense_Mutation_p.S127C|ARHGAP25_uc002sew.2_Missense_Mutation_p.S127C|ARHGAP25_uc002sex.2_Missense_Mutation_p.S127C|ARHGAP25_uc010fdh.1_RNA	p.S134C	NM_001007231	NP_001007232	P42331	RHG25_HUMAN			4	764	+			134			PH.		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.400A>T		.	.	.	.	.	.	.	.	.	.	A	20.8	4.052299	0.75960	.	.	ENSG00000163219	ENST00000544262;ENST00000295381;ENST00000409202;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533	T;T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54;2.54	5.78	3.37	0.38596	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.191899	0.53938	N	0.000049	T	0.26955	0.0660	M	0.64260	1.97	0.34405	D	0.695741	P;D;D;D;D;D	0.62365	0.953;0.991;0.991;0.991;0.991;0.991	P;P;P;P;P;D	0.69479	0.871;0.882;0.882;0.882;0.844;0.964	T	0.34950	-0.9808	10	0.72032	D	0.01	.	4.4679	0.11698	0.738:0.0:0.0896:0.1724	.	108;134;127;127;127;134	B7Z8K7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331	.;.;.;.;.;RHG25_HUMAN	C	108;134;134;127;127;127;127;118	ENSP00000439917:S108C;ENSP00000295381:S134C;ENSP00000386911:S134C;ENSP00000386863:S127C;ENSP00000386241:S127C;ENSP00000417139:S127C	ENSP00000295381:S134C	S	+	1	0	ARHGAP25	68868526	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.414000	0.44627	0.962000	0.38057	0.383000	0.25322	AGC		0.542	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_014882		3	72	0	0	0	0.004672	0	3	72		
TGFBRAP1	9392	broad.mit.edu	37	2	105883968	105883968	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:105883968G>C	ENST00000393359.2	-	12	2881	c.2455C>G	c.(2455-2457)Cag>Gag	p.Q819E	AC012360.2_ENST00000595531.1_5'Flank|TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.Q819E			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	819					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)	p.Q819E(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TGGCATATCTGACAAAGCTTT	0.433																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	uc002tcq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)|skin(1)	2						c.(2455-2457)CAG>GAG		transforming growth factor, beta receptor							154.0	141.0	145.0					2																	105883968		2203	4300	6503	SO:0001583	missense	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105883968G>C	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.2455C>G	2.37:g.105883968G>C	ENSP00000377027:p.Gln819Glu					TGFBRAP1_uc010fjc.2_Missense_Mutation_p.Q588E|TGFBRAP1_uc002tcr.3_Missense_Mutation_p.Q819E|uc002tcp.2_5'Flank	p.Q819E	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN			12	2539	-			819					A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	c.2455C>G	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369005	0.61624	.	.	ENSG00000135966	ENST00000393359;ENST00000258449;ENST00000543724	T;T	0.41065	1.01;1.01	5.5	5.5	0.81552	Vacuolar sorting protein 39/Transforming growth factor beta receptor-associated domain 2 (1);	0.058428	0.64402	D	0.000001	T	0.53174	0.1780	M	0.66939	2.045	0.45946	D	0.998772	P;B	0.44877	0.845;0.267	P;B	0.52343	0.696;0.048	T	0.44112	-0.9349	10	0.23302	T	0.38	-28.9991	14.2743	0.66170	0.0:0.0:0.8512:0.1488	.	274;819	B3KMM9;Q8WUH2	.;TGFA1_HUMAN	E	819;819;274	ENSP00000377027:Q819E;ENSP00000258449:Q819E	ENSP00000258449:Q819E	Q	-	1	0	TGFBRAP1	105250400	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.917000	0.69989	2.590000	0.87494	0.557000	0.71058	CAG		0.433	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2		NM_004257		23	116	0	0	0	0.014323	0	23	116		
RGPD3	653489	broad.mit.edu	37	2	107040796	107040796	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:107040796C>G	ENST00000409886.3	-	20	3714	c.3627G>C	c.(3625-3627)ttG>ttC	p.L1209F	RGPD3_ENST00000304514.7_Missense_Mutation_p.L1209F	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1209					protein targeting to Golgi (GO:0000042)			p.L1209F(2)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GATCATTTGTCAAAAATGTTT	0.408																																						uc010ywi.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(3625-3627)TTG>TTC		RANBP2-like and GRIP domain containing 3							5.0	4.0	4.0					2																	107040796		641	1448	2089	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107040796C>G		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.3627G>C	2.37:g.107040796C>G	ENSP00000386588:p.Leu1209Phe						p.L1209F	NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN			20	3684	-			1209					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.3627G>C	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	9.451	1.090510	0.20471	.	.	ENSG00000153165	ENST00000409886;ENST00000304514	T;T	0.44083	0.93;0.93	2.35	1.43	0.22495	.	.	.	.	.	T	0.47710	0.1460	L	0.36672	1.1	0.26366	N	0.976978	D	0.89917	1.0	D	0.91635	0.999	T	0.26258	-1.0108	9	0.52906	T	0.07	-13.2394	4.5249	0.11976	0.0:0.6597:0.0:0.3403	.	1209	A6NKT7	RGPD3_HUMAN	F	1209	ENSP00000386588:L1209F;ENSP00000303659:L1209F	ENSP00000303659:L1209F	L	-	3	2	RGPD3	106407228	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	2.522000	0.45572	0.310000	0.22990	0.186000	0.17326	TTG		0.408	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1		XM_929931		37	192	0	0	0	0.009718	0	37	192		
MALL	7851	broad.mit.edu	37	2	110849283	110849283	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:110849283C>G	ENST00000272462.2	-	2	943	c.170G>C	c.(169-171)gGa>gCa	p.G57A	MALL_ENST00000427178.1_Intron	NM_005434.4	NP_005425.1	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like	57	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cholesterol homeostasis (GO:0042632)	clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)		p.G57A(1)		kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		CATCACCCATCCTTGCAGCAA	0.433																																						uc002tfk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(169-171)GGA>GCA		mal, T-cell differentiation protein-like							138.0	122.0	127.0					2																	110849283		2202	4298	6500	SO:0001583	missense	7851				cholesterol homeostasis	clathrin-coated vesicle|Golgi membrane|integral to membrane|membrane raft|plasma membrane	protein binding	g.chr2:110849283C>G	U17077	CCDS2085.1	2q13	2008-02-05			ENSG00000144063	ENSG00000144063			6818	protein-coding gene	gene with protein product		602022				9326933	Standard	NM_005434		Approved	BENE	uc002tfk.3	Q13021	OTTHUMG00000131196	ENST00000272462.2:c.170G>C	2.37:g.110849283C>G	ENSP00000272462:p.Gly57Ala					MALL_uc010fju.2_Intron	p.G57A	NM_005434	NP_005425	Q13021	MALL_HUMAN		Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)	2	944	-			57			MARVEL.		B3KWR6|Q9BTU0	Missense_Mutation	SNP	ENST00000272462.2	37	c.170G>C	CCDS2085.1	.	.	.	.	.	.	.	.	.	.	C	6.539	0.467643	0.12402	.	.	ENSG00000144063	ENST00000272462	T	0.27104	1.69	3.47	3.47	0.39725	Marvel (1);MARVEL-like domain (1);	0.000000	0.52532	D	0.000066	T	0.50616	0.1626	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55237	-0.8172	10	0.48119	T	0.1	-6.1918	12.7991	0.57576	0.0:1.0:0.0:0.0	.	57	Q13021	MALL_HUMAN	A	57	ENSP00000272462:G57A	ENSP00000272462:G57A	G	-	2	0	MALL	110206572	1.000000	0.71417	1.000000	0.80357	0.291000	0.27294	4.652000	0.61454	1.664000	0.50801	0.313000	0.20887	GGA		0.433	MALL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253921.1		NM_005434		4	71	0	0	0	0.000602	0	4	71		
SAP130	79595	broad.mit.edu	37	2	128775266	128775266	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:128775266C>G	ENST00000259235.3	-	3	543	c.414G>C	c.(412-414)gaG>gaC	p.E138D	SAP130_ENST00000357702.5_Missense_Mutation_p.E138D|SAP130_ENST00000259234.6_Missense_Mutation_p.E112D	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	138	Pro-rich.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.E138D(2)		NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TCATAAGTCCCTCCGAAAATG	0.478																																						uc002tpp.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|skin(2)	4						c.(412-414)GAG>GAC		Sin3A-associated protein, 130kDa isoform b							90.0	84.0	86.0					2																	128775266		2203	4300	6503	SO:0001583	missense	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128775266C>G	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.414G>C	2.37:g.128775266C>G	ENSP00000259235:p.Glu138Asp					SAP130_uc002tpo.2_5'Flank|SAP130_uc010fmd.2_Missense_Mutation_p.E138D|SAP130_uc002tpq.1_Missense_Mutation_p.E112D	p.E138D	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	3	546	-	Colorectal(110;0.1)		138			Pro-rich.		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	c.414G>C	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344479	0.61073	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234;ENST00000424298;ENST00000450957	.	.	.	5.71	3.88	0.44766	.	0.099783	0.64402	D	0.000002	T	0.27663	0.0680	N	0.14661	0.345	0.38924	D	0.957807	B;B;B	0.24186	0.099;0.009;0.005	B;B;B	0.22753	0.041;0.007;0.007	T	0.09684	-1.0663	9	0.16420	T	0.52	-24.447	3.6794	0.08305	0.1925:0.5537:0.0:0.2538	.	138;112;138	B7ZLM3;Q96DP1;Q9H0E3	.;.;SP130_HUMAN	D	138;138;112;112;112	.	ENSP00000259234:E112D	E	-	3	2	SAP130	128491736	0.841000	0.29509	1.000000	0.80357	0.998000	0.95712	-0.036000	0.12185	1.390000	0.46547	0.644000	0.83932	GAG		0.478	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3		NM_024545		20	27	0	0	0	0.014323	0	20	27		
LCT	3938	broad.mit.edu	37	2	136567117	136567117	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:136567117T>C	ENST00000264162.2	-	8	2810	c.2800A>G	c.(2800-2802)Aac>Gac	p.N934D	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	934	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.N934D(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TGGGTAAAGTTATCCCAGATG	0.552																																						uc002tuu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(2800-2802)AAC>GAC		lactase-phlorizin hydrolase preproprotein							80.0	79.0	79.0					2																	136567117		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136567117T>C	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2800A>G	2.37:g.136567117T>C	ENSP00000264162:p.Asn934Asp						p.N934D	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	2811	-			934			3.|Extracellular (Potential).|4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.2800A>G	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	T	15.40	2.823630	0.50739	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.50548	0.74	5.78	5.78	0.91487	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.515745	0.23577	N	0.046684	T	0.40119	0.1104	N	0.10645	0.015	0.33921	D	0.640826	P	0.43024	0.798	P	0.48921	0.595	T	0.56631	-0.7947	10	0.45353	T	0.12	-35.2006	16.1146	0.81295	0.0:0.0:0.0:1.0	.	934	P09848	LPH_HUMAN	D	934;366	ENSP00000264162:N934D	ENSP00000264162:N934D	N	-	1	0	LCT	136283587	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.244000	0.58728	2.200000	0.70718	0.460000	0.39030	AAC		0.552	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1		NM_002299		4	61	0	0	0	0.009096	0	4	61		
ORC4	5000	broad.mit.edu	37	2	148705641	148705641	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:148705641C>T	ENST00000392857.5	-	9	848	c.741G>A	c.(739-741)gaG>gaA	p.E247E	ORC4_ENST00000536575.1_Silent_p.E163E|ORC4_ENST00000392858.1_Silent_p.E247E|ORC4_ENST00000264169.2_Silent_p.E247E|ORC4_ENST00000542387.1_Silent_p.E30E|ORC4_ENST00000540442.1_Silent_p.E173E|ORC4_ENST00000535373.1_Silent_p.E247E	NM_001190879.2|NM_001190882.2|NM_002552.4|NM_181741.3	NP_001177808.1|NP_001177811.1|NP_002543.2|NP_859525.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	247					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)	p.E247E(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						CATTCCACTTCTCAGCAAAAA	0.294																																						uc002twi.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(739-741)GAG>GAA		origin recognition complex subunit 4							54.0	60.0	58.0					2																	148705641		2203	4295	6498	SO:0001819	synonymous_variant	5000				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding	g.chr2:148705641C>T	AF022108	CCDS2187.1, CCDS54404.1, CCDS54405.1	2q22-q23	2010-10-12	2010-10-12	2010-10-12	ENSG00000115947	ENSG00000115947		"""ATPases / AAA-type"""	8490	protein-coding gene	gene with protein product		603056	"""origin recognition complex, subunit 4 (yeast homolog)-like"", ""origin recognition complex, subunit 4-like (yeast)"", ""origin recognition complex, subunit 4-like (S. cerevisiae)"", ""origin recognition complex, subunit 4 homolog (S. cerevisiae)"""	ORC4L		9353276, 9691185	Standard	NM_181742		Approved	HsORC4, Orc4p	uc002twk.3	O43929	OTTHUMG00000131849	ENST00000392857.5:c.741G>A	2.37:g.148705641C>T						ORC4L_uc002twj.2_Silent_p.E247E|ORC4L_uc010zbo.1_Silent_p.E173E|ORC4L_uc010zbp.1_Silent_p.E30E|ORC4L_uc010fnr.2_Silent_p.E247E|ORC4L_uc010zbq.1_Silent_p.E163E|ORC4L_uc002twk.2_Silent_p.E247E|ORC4L_uc010zbr.1_Silent_p.E247E	p.E247E	NM_181741	NP_859525	O43929	ORC4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0963)|COAD - Colon adenocarcinoma(177;0.203)	9	876	-			247					B7Z3D0|B7Z5F1|D3DP86|F5H069|Q96C42	Silent	SNP	ENST00000392857.5	37	c.741G>A	CCDS2187.1																																																																																				0.294	ORC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254797.3		NM_181742		6	94	0	0	0	0.001168	0	6	94		
SCN2A	6326	broad.mit.edu	37	2	166229818	166229818	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:166229818G>A	ENST00000375437.2	+	21	4223	c.3933G>A	c.(3931-3933)ctG>ctA	p.L1311L	SCN2A_ENST00000375427.2_Silent_p.L1311L|SCN2A_ENST00000283256.6_Silent_p.L1311L|SCN2A_ENST00000357398.3_Silent_p.L1311L	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1311					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.L1311L(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TAAGAGCTCTGAGGCCACTGA	0.433																																						uc002udc.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(6)|breast(1)|pancreas(1)	8						c.(3931-3933)CTG>CTA		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						143.0	141.0	141.0					2																	166229818		2203	4300	6503	SO:0001819	synonymous_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166229818G>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.3933G>A	2.37:g.166229818G>A						SCN2A_uc002udd.2_Silent_p.L1311L|SCN2A_uc002ude.2_Silent_p.L1311L	p.L1311L	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			21	4223	+			1311			III.|Helical; Voltage-sensor; Name=S4 of repeat III; (Potential).		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	c.3933G>A	CCDS33314.1																																																																																				0.433	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2		NM_021007		4	85	0	0	0	0.009096	0	4	85		
XIRP2	129446	broad.mit.edu	37	2	168101392	168101392	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:168101392A>G	ENST00000409195.1	+	9	3579	c.3490A>G	c.(3490-3492)Aca>Gca	p.T1164A	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T1164A|XIRP2_ENST00000409273.1_Missense_Mutation_p.T942A|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	989					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.T1164A(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						GGATGTTCGTACAGCATGTTT	0.398																																						uc002udx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(3490-3492)ACA>GCA		xin actin-binding repeat containing 2 isoform 1							88.0	79.0	82.0					2																	168101392		1871	4104	5975	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168101392A>G	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.3490A>G	2.37:g.168101392A>G	ENSP00000386840:p.Thr1164Ala					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.T989A|XIRP2_uc010fpq.2_Missense_Mutation_p.T942A|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.T1164A	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	3508	+			989			Xin 18.		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.3490A>G	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	9.036	0.988380	0.18966	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03181	4.02;4.02;4.02	5.91	0.721	0.18219	.	0.446416	0.26089	N	0.026412	T	0.04543	0.0124	M	0.64997	1.995	0.21020	N	0.999804	B;B;B	0.19583	0.022;0.037;0.037	B;B;B	0.19946	0.012;0.027;0.027	T	0.31833	-0.9929	10	0.54805	T	0.06	-4.1334	5.3353	0.15955	0.6745:0.0:0.2057:0.1198	.	989;989;942	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	A	1164;1164;942	ENSP00000386840:T1164A;ENSP00000295237:T1164A;ENSP00000387255:T942A	ENSP00000295237:T1164A	T	+	1	0	XIRP2	167809638	0.737000	0.28175	0.605000	0.28930	0.989000	0.77384	1.728000	0.38105	-0.091000	0.12440	0.533000	0.62120	ACA		0.398	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1		NM_152381		29	40	0	0	0	0.009535	0	29	40		
XIRP2	129446	broad.mit.edu	37	2	168108453	168108453	+	Silent	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:168108453A>C	ENST00000409195.1	+	9	10640	c.10551A>C	c.(10549-10551)atA>atC	p.I3517I	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.I3517I|XIRP2_ENST00000409273.1_Silent_p.I3295I|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3342					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.I3517I(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						CTGCATTTATAAGTGGTAAAT	0.408																																						uc002udx.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(10549-10551)ATA>ATC		xin actin-binding repeat containing 2 isoform 1							62.0	58.0	59.0					2																	168108453		1871	4088	5959	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168108453A>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.10551A>C	2.37:g.168108453A>C						XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.I3342I|XIRP2_uc010fpq.2_Silent_p.I3295I|XIRP2_uc010fpr.2_Intron	p.I3517I	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	10569	+			3342					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.10551A>C	CCDS42769.1																																																																																				0.408	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1		NM_152381		4	68	0	0	0	0.001168	0	4	68		
TTN	7273	broad.mit.edu	37	2	179431334	179431334	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:179431334C>G	ENST00000591111.1	-	276	74826	c.74602G>C	c.(74602-74604)Ggt>Cgt	p.G24868R	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G26509R|TTN_ENST00000342992.6_Missense_Mutation_p.G23941R|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G17636R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G17569R|TTN_ENST00000460472.2_Missense_Mutation_p.G17444R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24868	Fibronectin type-III 81. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G17569R(1)|p.G17636R(1)|p.G17444R(1)|p.G23941R(1)|p.G23939R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGGGTTTACCCCAGGCAAGT	0.423																																						uc010zfg.1		NaN																	5	Substitution - Missense(5)		urinary_tract(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(71821-71823)GGT>CGT		titin isoform N2-A							194.0	194.0	194.0					2																	179431334		1867	4094	5961	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179431334C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.74602G>C	2.37:g.179431334C>G	ENSP00000465570:p.Gly24868Arg					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G17636R|TTN_uc010zfi.1_Missense_Mutation_p.G17569R|TTN_uc010zfj.1_Missense_Mutation_p.G17444R	p.G23941R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	72045	-			24868					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.71821G>C		.	.	.	.	.	.	.	.	.	.	C	9.621	1.133716	0.21123	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.63	2.37	0.29283	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41534	0.1163	N	0.17723	0.515	0.46241	D	0.998946	B;B;B;B	0.31274	0.317;0.317;0.317;0.317	B;B;B;B	0.39660	0.306;0.306;0.306;0.306	T	0.41070	-0.9529	9	0.87932	D	0	.	9.3827	0.38325	0.0:0.6584:0.0:0.3416	.	17444;17569;17636;24868	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	23941;17444;17636;17569;17442	ENSP00000343764:G23941R;ENSP00000434586:G17444R;ENSP00000340554:G17636R;ENSP00000352154:G17569R	ENSP00000340554:G17636R	G	-	1	0	TTN	179139580	0.983000	0.35010	1.000000	0.80357	0.994000	0.84299	0.280000	0.18790	0.708000	0.31955	0.561000	0.74099	GGT		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		24	206	0	0	0	0.00333	0	24	206		
TTN	7273	broad.mit.edu	37	2	179547564	179547564	+	Missense_Mutation	SNP	C	C	T	rs181395238	byFrequency	TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:179547564C>T	ENST00000591111.1	-	133	32227	c.32003G>A	c.(32002-32004)cGg>cAg	p.R10668Q	TTN_ENST00000589042.1_Missense_Mutation_p.R10985Q|TTN_ENST00000342992.6_Missense_Mutation_p.R9741Q|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R9741Q(1)|p.R9741L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTTCTTCCCGTTGTACTGA	0.353																																						uc010zfg.1		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(29221-29223)CGG>CAG		titin isoform N2-A							196.0	170.0	178.0					2																	179547564		1833	4080	5913	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179547564C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.32003G>A	2.37:g.179547564C>T	ENSP00000465570:p.Arg10668Gln					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R6402Q|TTN_uc010fre.1_Missense_Mutation_p.R588Q	p.R9741Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		132	29446	-			10668					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.29222G>A		.	.	.	.	.	.	.	.	.	.	C	11.32	1.602600	0.28534	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	D;T	0.82255	-1.59;-0.08	4.76	2.95	0.34219	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.71048	0.3294	N	0.24115	0.695	0.25819	N	0.984302	B;B	0.15473	0.0;0.013	B;B	0.10450	0.0;0.005	T	0.62586	-0.6823	9	0.87932	D	0	.	6.9025	0.24291	0.0:0.6608:0.0:0.3392	.	10668;10404	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	Q	9741;599	ENSP00000343764:R9741Q;ENSP00000401501:R599Q	ENSP00000343764:R9741Q	R	-	2	0	TTN	179255809	0.003000	0.15002	0.891000	0.34965	0.991000	0.79684	-0.176000	0.09811	0.694000	0.31654	0.655000	0.94253	CGG		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		6	57	0	0	0	0.001168	0	6	57		
TTN	7273	broad.mit.edu	37	2	179596956	179596956	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:179596956A>C	ENST00000591111.1	-	55	16013	c.15789T>G	c.(15787-15789)aaT>aaG	p.N5263K	TTN_ENST00000589042.1_Missense_Mutation_p.N5580K|TTN_ENST00000342992.6_Missense_Mutation_p.N4336K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12081	Ig-like 33.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.N4336K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTCTATCATTTGCAAACC	0.423																																						uc010zfg.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(13006-13008)AAT>AAG		titin isoform N2-A							146.0	142.0	143.0					2																	179596956		1881	4123	6004	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179596956A>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.15789T>G	2.37:g.179596956A>C	ENSP00000465570:p.Asn5263Lys					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.N997K	p.N4336K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		54	13232	-			5263					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.13008T>G		.	.	.	.	.	.	.	.	.	.	A	9.991	1.230792	0.22542	.	.	ENSG00000155657	ENST00000342992	T	0.50277	0.75	6.17	-0.212	0.13169	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58878	0.2153	M	0.82056	2.57	0.80722	D	1	P	0.50819	0.939	P	0.53988	0.739	T	0.63409	-0.6644	9	0.87932	D	0	.	10.2773	0.43519	0.6775:0.0:0.3225:0.0	.	5263	Q8WZ42	TITIN_HUMAN	K	4336	ENSP00000343764:N4336K	ENSP00000343764:N4336K	N	-	3	2	TTN	179305201	0.993000	0.37304	0.976000	0.42696	0.994000	0.84299	0.646000	0.24797	-0.034000	0.13713	-0.290000	0.09829	AAT		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		62	85	0	0	0	0.01441	0	62	85		
COL5A2	1290	broad.mit.edu	37	2	190044277	190044277	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:190044277T>A	ENST00000374866.3	-	1	328	c.54A>T	c.(52-54)ttA>ttT	p.L18F		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	18					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.L18F(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CAAATTGCCCTAATAAAACAA	0.413																																						uc002uqk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(52-54)TTA>TTT		alpha 2 type V collagen preproprotein							65.0	59.0	61.0					2																	190044277		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:190044277T>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.54A>T	2.37:g.190044277T>A	ENSP00000364000:p.Leu18Phe						p.L18F	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		1	329	-			18					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.54A>T	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.634174	0.47049	.	.	ENSG00000204262	ENST00000374866	D	0.90563	-2.69	4.83	4.83	0.62350	.	0.379769	0.15630	U	0.252424	T	0.80904	0.4713	N	0.08118	0	0.26983	N	0.965327	P	0.48162	0.906	B	0.43445	0.42	T	0.72211	-0.4359	9	.	.	.	.	9.8674	0.41152	0.0:0.0804:0.0:0.9196	.	18	P05997	CO5A2_HUMAN	F	18	ENSP00000364000:L18F	.	L	-	3	2	COL5A2	189752522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.084000	0.41625	2.023000	0.59567	0.482000	0.46254	TTA		0.413	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1		NM_000393		16	21	0	0	0	0.007413	0	16	21		
STAT1	6772	broad.mit.edu	37	2	191847151	191847151	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:191847151G>C	ENST00000361099.3	-	18	1927	c.1540C>G	c.(1540-1542)Ctc>Gtc	p.L514V	STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.L514V|STAT1_ENST00000392323.2_Missense_Mutation_p.L516V|STAT1_ENST00000392322.3_Missense_Mutation_p.L514V	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	514					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)	p.L514V(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			TCCACATTGAGACCTCTTTTG	0.398																																						uc002usj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10						c.(1540-1542)CTC>GTC		signal transducer and activator of transcription	Fludarabine(DB01073)						123.0	126.0	125.0					2																	191847151		2203	4300	6503	SO:0001583	missense	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191847151G>C		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1540C>G	2.37:g.191847151G>C	ENSP00000354394:p.Leu514Val					STAT1_uc010fse.1_Missense_Mutation_p.L514V|STAT1_uc002usk.2_Missense_Mutation_p.L514V|STAT1_uc002usl.2_Missense_Mutation_p.L516V|STAT1_uc010fsf.1_Missense_Mutation_p.L326V	p.L514V	NM_007315	NP_009330	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		18	1928	-			514					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	c.1540C>G	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185265	0.78677	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06	5.31	5.31	0.75309	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.93562	0.7945	M	0.87827	2.91	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.85130	0.967;0.997	D	0.93975	0.7253	10	0.66056	D	0.02	-24.5505	19.1768	0.93605	0.0:0.0:1.0:0.0	.	514;514	P42224-2;P42224	.;STAT1_HUMAN	V	514;514;514;516	ENSP00000354394:L514V;ENSP00000386244:L514V;ENSP00000376136:L514V;ENSP00000376137:L516V	ENSP00000354394:L514V	L	-	1	0	STAT1	191555396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.716000	0.84723	2.754000	0.94517	0.655000	0.94253	CTC		0.398	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3		NM_007315		34	100	0	0	0	0.004289	0	34	100		
HECW2	57520	broad.mit.edu	37	2	197092943	197092943	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:197092943A>G	ENST00000260983.3	-	22	3982	c.3800T>C	c.(3799-3801)tTc>tCc	p.F1267S	HECW2_ENST00000409111.1_Missense_Mutation_p.F911S	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1267	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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.F1267S(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						GGATACCAGGAAGAAAAACTC	0.348																																						uc002utm.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.(3799-3801)TTC>TCC		HECT, C2 and WW domain containing E3 ubiquitin							72.0	75.0	74.0					2																	197092943		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197092943A>G	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.3800T>C	2.37:g.197092943A>G	ENSP00000260983:p.Phe1267Ser					HECW2_uc002utl.1_Missense_Mutation_p.F911S	p.F1267S	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			22	3983	-			1267			HECT.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.3800T>C	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.634859	0.87760	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.39406	1.08;1.08	5.44	5.44	0.79542	HECT (3);	0.000000	0.85682	D	0.000000	T	0.67031	0.2850	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.72083	-0.4397	10	0.87932	D	0	.	15.6649	0.77221	1.0:0.0:0.0:0.0	.	1267	Q9P2P5	HECW2_HUMAN	S	911;1267	ENSP00000386775:F911S;ENSP00000260983:F1267S	ENSP00000260983:F1267S	F	-	2	0	HECW2	196801188	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.139000	0.94554	2.281000	0.76405	0.533000	0.62120	TTC		0.348	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3		NM_020760		12	46	0	0	0	0.00245	0	12	46		
GTF3C3	9330	broad.mit.edu	37	2	197641263	197641263	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:197641263A>G	ENST00000263956.3	-	11	1570	c.1481T>C	c.(1480-1482)aTt>aCt	p.I494T		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	494					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.I494T(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AGAAAGTGAAATCCTTGCATC	0.473																																						uc002uts.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|breast(3)|pancreas(1)	7						c.(1480-1482)ATT>ACT		general transcription factor IIIC, polypeptide							125.0	128.0	127.0					2																	197641263		2203	4300	6503	SO:0001583	missense	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197641263A>G	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.1481T>C	2.37:g.197641263A>G	ENSP00000263956:p.Ile494Thr					GTF3C3_uc010zgu.1_Missense_Mutation_p.I465T	p.I494T	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN			11	1571	-			494			TPR 9.		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	ENST00000263956.3	37	c.1481T>C	CCDS2316.1	.	.	.	.	.	.	.	.	.	.	A	18.32	3.599035	0.66332	.	.	ENSG00000119041	ENST00000263956;ENST00000435252	T;T	0.18174	2.23;2.23	5.87	4.7	0.59300	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.060818	0.64402	D	0.000004	T	0.10121	0.0248	N	0.19112	0.55	0.80722	D	1	B	0.32245	0.361	B	0.21708	0.036	T	0.19224	-1.0312	10	0.24483	T	0.36	-20.0882	12.4299	0.55569	0.8741:0.0:0.0:0.1259	.	494	Q9Y5Q9	TF3C3_HUMAN	T	494;17	ENSP00000263956:I494T;ENSP00000394065:I17T	ENSP00000263956:I494T	I	-	2	0	GTF3C3	197349508	1.000000	0.71417	0.066000	0.19879	0.670000	0.39368	9.108000	0.94275	1.025000	0.39708	0.528000	0.53228	ATT		0.473	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1				4	114	0	0	0	0.009096	0	4	114		
SPEG	10290	broad.mit.edu	37	2	220337015	220337015	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:220337015T>A	ENST00000312358.7	+	15	4034	c.3902T>A	c.(3901-3903)cTc>cAc	p.L1301H	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1301	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.L1301H(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)		ATGGTCACACTCACATGGAAC	0.647																																						uc010fwg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(3901-3903)CTC>CAC		SPEG complex locus							48.0	53.0	51.0					2																	220337015		2023	4164	6187	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220337015T>A	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.3902T>A	2.37:g.220337015T>A	ENSP00000311684:p.Leu1301His						p.L1301H	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)	15	3902	+		Renal(207;0.0183)	1301			Fibronectin type-III 1.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.3902T>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.832132	0.50845	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.66995	-0.24	4.62	4.62	0.57501	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.34828	N	0.003644	D	0.83640	0.5298	M	0.90309	3.105	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.87147	0.2206	10	0.87932	D	0	.	13.0167	0.58762	0.0:0.0:0.0:1.0	.	1301	Q15772	SPEG_HUMAN	H	1301	ENSP00000311684:L1301H	ENSP00000265327:L1301H	L	+	2	0	SPEG	220045259	0.999000	0.42202	0.052000	0.19188	0.980000	0.70556	7.211000	0.77933	1.725000	0.51514	0.459000	0.35465	CTC		0.647	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2		NM_005876		7	38	0	0	0	0.004482	0	7	38		
CAPN10	11132	broad.mit.edu	37	2	241531491	241531491	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:241531491G>A	ENST00000391984.2	+	4	808	c.612G>A	c.(610-612)gaG>gaA	p.E204E	CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000404753.3_Silent_p.E204E|CAPN10_ENST00000354082.4_Silent_p.E204E|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000391982.2_Silent_p.E204E	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	204	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)	p.E204E(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GCCGCTGGGAGCACAGGACTT	0.657																																						uc002vzk.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(3)|large_intestine(2)|lung(1)	6						c.(610-612)GAG>GAA		calpain 10 isoform a							25.0	26.0	26.0					2																	241531491		2201	4298	6499	SO:0001819	synonymous_variant	11132				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	g.chr2:241531491G>A	AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.612G>A	2.37:g.241531491G>A						CAPN10_uc010zoh.1_Silent_p.E204E|CAPN10_uc002vzl.1_Silent_p.E204E|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Silent_p.E76E|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_RNA|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron	p.E204E	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)	4	796	+		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	204			Calpain catalytic.		A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Silent	SNP	ENST00000391984.2	37	c.612G>A	CCDS42838.1																																																																																				0.657	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3		NM_023083		7	8	0	0	0	0.00308	0	7	8		
MTERF4	130916	broad.mit.edu	37	2	242038846	242038846	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:242038846C>T	ENST00000391980.2	-	2	543	c.485G>A	c.(484-486)cGc>cAc	p.R162H	MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000495694.1_Missense_Mutation_p.R162H|MTERFD2_ENST00000407095.3_Missense_Mutation_p.R162H	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		162					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)	p.R162H(1)		endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		GTAACTGGAGCGCTTCCTCAT	0.468																																						uc002wan.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(571-573)CGC>CAC		MTERF domain containing 2							100.0	100.0	100.0					2																	242038846		2203	4300	6503	SO:0001583	missense	130916							g.chr2:242038846C>T																												ENST00000391980.2:c.485G>A	2.37:g.242038846C>T	ENSP00000375840:p.Arg162His					MTERFD2_uc010zoj.1_Intron|MTERFD2_uc010zok.1_Missense_Mutation_p.R162H	p.R191H	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)	1	1065	-		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	162					A8K6K0|Q9P0E0	Missense_Mutation	SNP	ENST00000391980.2	37	c.572G>A	CCDS2544.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989801	0.54041	.	.	ENSG00000122085	ENST00000495694;ENST00000401626;ENST00000391980;ENST00000424798;ENST00000407095;ENST00000434791	T;T;T;T;T;T	0.61274	0.12;0.12;2.77;2.77;2.77;0.24	4.71	3.81	0.43845	.	0.082448	0.46442	D	0.000294	T	0.72301	0.3443	M	0.74881	2.28	0.32146	N	0.584884	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.989	T	0.76375	-0.2982	10	0.46703	T	0.11	-17.8701	11.5568	0.50752	0.0:0.9103:0.0:0.0897	.	162;162	B4DKD5;Q7Z6M4	.;MTER2_HUMAN	H	162;162;162;155;162;141	ENSP00000419315:R162H;ENSP00000385183:R162H;ENSP00000375840:R162H;ENSP00000409023:R155H;ENSP00000385630:R162H;ENSP00000393063:R141H	ENSP00000241527:R162H	R	-	2	0	MTERFD2	241687519	0.909000	0.30893	0.487000	0.27428	0.340000	0.28889	3.478000	0.53158	2.340000	0.79590	0.591000	0.81541	CGC		0.468	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4				10	118	0	0	0	0.008291	0	10	118		
FASTKD5	60493	broad.mit.edu	37	20	3127517	3127517	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr20:3127517C>G	ENST00000380266.3	-	2	2521	c.2200G>C	c.(2200-2202)Gag>Cag	p.E734Q	UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	734	RAP. {ECO:0000255|PROSITE- ProRule:PRU00619}.				cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.E734Q(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						TAGGATAACTCTACCACACGG	0.502																																						uc002whz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(2200-2202)GAG>CAG		FAST kinase domains 5							102.0	101.0	102.0					20																	3127517		2203	4300	6503	SO:0001583	missense	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3127517C>G	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.2200G>C	20.37:g.3127517C>G	ENSP00000369618:p.Glu734Gln					uc002whv.1_Intron|UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron	p.E734Q	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN			2	2511	-			734			RAP.		Q96JN3|Q9H5D1|Q9H8Y3	Missense_Mutation	SNP	ENST00000380266.3	37	c.2200G>C	CCDS13048.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762211	0.69763	.	.	ENSG00000215251	ENST00000380266	T	0.14391	2.51	5.93	4.98	0.66077	RAP domain (3);	0.246313	0.26556	N	0.023717	T	0.25005	0.0607	N	0.25647	0.755	0.53005	D	0.99996	D	0.89917	1.0	D	0.97110	1.0	T	0.03566	-1.1024	10	0.27082	T	0.32	-12.3904	16.4734	0.84124	0.1323:0.8677:0.0:0.0	.	734	Q7L8L6	FAKD5_HUMAN	Q	734	ENSP00000369618:E734Q	ENSP00000369618:E734Q	E	-	1	0	FASTKD5	3075517	1.000000	0.71417	0.935000	0.37517	0.951000	0.60555	7.568000	0.82369	1.483000	0.48342	-0.181000	0.13052	GAG		0.502	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2		NM_021826		48	55	0	0	0	0.01441	0	48	55		
ANKEF1	63926	broad.mit.edu	37	20	10030758	10030758	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr20:10030758C>A	ENST00000378380.3	+	6	1870	c.1541C>A	c.(1540-1542)tCa>tAa	p.S514*	ANKEF1_ENST00000378392.1_Nonsense_Mutation_p.S514*|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	514							calcium ion binding (GO:0005509)	p.S514*(1)									GCCTTTGAATCAGGAATACCT	0.378																																						uc002wno.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(1540-1542)TCA>TAA		ankyrin repeat domain protein 5							69.0	70.0	69.0					20																	10030758		2203	4300	6503	SO:0001587	stop_gained	63926						calcium ion binding	g.chr20:10030758C>A	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.1541C>A	20.37:g.10030758C>A	ENSP00000367631:p.Ser514*					uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Nonsense_Mutation_p.S514*|ANKRD5_uc010gbz.2_Nonsense_Mutation_p.S325*	p.S514*	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN			7	1934	+			514					B3KUQ0|Q9H6Y9	Nonsense_Mutation	SNP	ENST00000378380.3	37	c.1541C>A	CCDS13108.1	.	.	.	.	.	.	.	.	.	.	C	39	7.748783	0.98468	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	.	.	.	5.77	1.24	0.21308	.	1.036190	0.07590	N	0.921875	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-0.3765	5.4562	0.16592	0.3836:0.4455:0.1001:0.0707	.	.	.	.	X	514	.	ENSP00000367631:S514X	S	+	2	0	ANKRD5	9978758	0.053000	0.20554	0.307000	0.25127	0.988000	0.76386	1.814000	0.38972	0.395000	0.25257	0.655000	0.94253	TCA		0.378	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2		NM_022096		8	46	1	0	1.12685e-05	0.004482	1.22708e-05	8	46		
BCL2L1	598	broad.mit.edu	37	20	30309576	30309576	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr20:30309576G>T	ENST00000307677.4	-	2	856	c.446C>A	c.(445-447)gCa>gAa	p.A149E	BCL2L1_ENST00000376055.4_Intron|BCL2L1_ENST00000420653.1_Missense_Mutation_p.A149E|BCL2L1_ENST00000376062.2_Missense_Mutation_p.A149E	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	149					apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process in bone marrow (GO:0071839)|cell proliferation (GO:0008283)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to alkaloid (GO:0071312)|cellular response to amino acid stimulus (GO:0071230)|cellular response to gamma radiation (GO:0071480)|cytokinesis (GO:0000910)|endocytosis (GO:0006897)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fertilization (GO:0009566)|germ cell development (GO:0007281)|growth (GO:0040007)|hepatocyte apoptotic process (GO:0097284)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male gonad development (GO:0008584)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|release of cytochrome c from mitochondria (GO:0001836)|response to cycloheximide (GO:0046898)|response to cytokine (GO:0034097)|spermatogenesis (GO:0007283)|suppression by virus of host apoptotic process (GO:0019050)	Bcl-2 family protein complex (GO:0097136)|cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synapse (GO:0045202)	BH3 domain binding (GO:0051434)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.A149E(1)		breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			CACGCACAGTGCCCCGCCGAA	0.537																																					Colon(51;693 1004 1401 20431 21026)	uc002wwl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)|central_nervous_system(1)	2						c.(445-447)GCA>GAA		BCL2-like 1 isoform 1							193.0	191.0	192.0					20																	30309576		2203	4300	6503	SO:0001583	missense	598				induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding	g.chr20:30309576G>T	Z23115	CCDS13188.1, CCDS13189.1	20q11.21	2014-03-07			ENSG00000171552	ENSG00000171552		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	992	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 52"""	600039				8358789	Standard	NM_001191		Approved	BCLX, BCL2L, Bcl-X, bcl-xL, bcl-xS, PPP1R52	uc002wwl.3	Q07817	OTTHUMG00000032192	ENST00000307677.4:c.446C>A	20.37:g.30309576G>T	ENSP00000302564:p.Ala149Glu					BCL2L1_uc002wwk.2_RNA|BCL2L1_uc002wwm.2_Intron|BCL2L1_uc002wwn.2_Missense_Mutation_p.A149E|BCL2L1_uc002wwo.1_Missense_Mutation_p.A149E	p.A149E	NM_138578	NP_612815	Q07817	B2CL1_HUMAN	Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)		2	812	-	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		149					E1P5L6|Q5CZ89|Q5TE65|Q92976	Missense_Mutation	SNP	ENST00000307677.4	37	c.446C>A	CCDS13189.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653246	0.88056	.	.	ENSG00000171552	ENST00000376062;ENST00000307677;ENST00000420653;ENST00000450273;ENST00000420488;ENST00000456404;ENST00000422920;ENST00000439267	T;T;T;T;T;T;T;T	0.04862	3.54;3.54;3.54;3.54;3.54;3.54;3.54;3.54	5.4	5.4	0.78164	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (3);	0.209231	0.49916	D	0.000130	T	0.17916	0.0430	L	0.58583	1.82	0.80722	D	1	P	0.47677	0.899	P	0.53689	0.732	T	0.00014	-1.2407	10	0.87932	D	0	-13.4848	18.346	0.90322	0.0:0.0:1.0:0.0	.	149	Q07817	B2CL1_HUMAN	E	149	ENSP00000365230:A149E;ENSP00000302564:A149E;ENSP00000405563:A149E;ENSP00000406203:A149E;ENSP00000390760:A149E;ENSP00000395545:A149E;ENSP00000411252:A149E;ENSP00000389688:A149E	ENSP00000302564:A149E	A	-	2	0	BCL2L1	29773237	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.859000	0.86982	2.822000	0.97130	0.650000	0.86243	GCA		0.537	BCL2L1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078575.1		NM_138578		9	175	1	0	3.07112e-06	0.010729	3.37155e-06	9	175		
TM9SF4	9777	broad.mit.edu	37	20	30723942	30723942	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr20:30723942G>C	ENST00000398022.2	+	3	430	c.195G>C	c.(193-195)caG>caC	p.Q65H	TM9SF4_ENST00000217315.5_Missense_Mutation_p.Q48H	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	65						integral component of membrane (GO:0016021)		p.Q48H(1)		central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCTTCTGCCAGCCCAGCAAGA	0.488																																						uc002wxj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)|pancreas(1)	2						c.(193-195)CAG>CAC		transmembrane 9 superfamily protein member 4							111.0	93.0	99.0					20																	30723942		2203	4300	6503	SO:0001583	missense	9777					integral to membrane		g.chr20:30723942G>C	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.195G>C	20.37:g.30723942G>C	ENSP00000381104:p.Gln65His					TM9SF4_uc010ztr.1_5'UTR|TM9SF4_uc010zts.1_5'UTR|TM9SF4_uc002wxk.2_Missense_Mutation_p.Q48H	p.Q65H	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	430	+			65					B0QYT7|Q9NUA3	Missense_Mutation	SNP	ENST00000398022.2	37	c.195G>C	CCDS13196.2	.	.	.	.	.	.	.	.	.	.	.	18.43	3.621451	0.66787	.	.	ENSG00000101337	ENST00000398022;ENST00000217315	T;T	0.44482	0.92;0.92	5.73	3.74	0.42951	.	0.174773	0.51477	D	0.000093	T	0.44540	0.1298	L	0.42686	1.345	0.53688	D	0.999979	B	0.31100	0.308	P	0.47891	0.56	T	0.37291	-0.9712	10	0.38643	T	0.18	-5.9405	5.7993	0.18403	0.141:0.0:0.5826:0.2764	.	65	Q92544	TM9S4_HUMAN	H	65;48	ENSP00000381104:Q65H;ENSP00000217315:Q48H	ENSP00000217315:Q48H	Q	+	3	2	TM9SF4	30187603	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.158000	0.31737	0.723000	0.32274	0.655000	0.94253	CAG		0.488	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1		NM_014742		5	44	0	0	0	0.001168	0	5	44		
SNTA1	6640	broad.mit.edu	37	20	32026723	32026723	+	Silent	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr20:32026723C>G	ENST00000217381.2	-	2	691	c.420G>C	c.(418-420)ggG>ggC	p.G140G		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	140	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.|PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)	p.G140G(1)		breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						ACAAGTCTTCCCCATTCACAG	0.532																																						uc002wzd.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(418-420)GGG>GGC		acidic alpha 1 syntrophin							166.0	151.0	156.0					20																	32026723		2203	4300	6503	SO:0001819	synonymous_variant	6640				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding	g.chr20:32026723C>G	U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"""pro-TGF-alpha cytoplasmic domain-interacting protein 1"", ""dystrophin-associated protein A1, 59kDa, acidic component"""	601017	"""syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"""	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.420G>C	20.37:g.32026723C>G						SNTA1_uc010zuf.1_Silent_p.G140G	p.G140G	NM_003098	NP_003089	Q13424	SNTA1_HUMAN			2	692	-			140			PH 1.|PDZ.		A8K7H9|B4DX40|E1P5N1|Q16438	Silent	SNP	ENST00000217381.2	37	c.420G>C	CCDS13220.1																																																																																				0.532	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078704.2		NM_003098		11	141	0	0	0	0.010729	0	11	141		
PTPRT	11122	broad.mit.edu	37	20	41400092	41400092	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr20:41400092C>T	ENST00000373187.1	-	5	666	c.667G>A	c.(667-669)Gac>Aac	p.D223N	PTPRT_ENST00000373201.1_Missense_Mutation_p.D223N|PTPRT_ENST00000373190.1_Missense_Mutation_p.D223N|PTPRT_ENST00000373198.4_Missense_Mutation_p.D223N|PTPRT_ENST00000373184.1_Missense_Mutation_p.D223N|PTPRT_ENST00000373193.3_Missense_Mutation_p.D223N|PTPRT_ENST00000356100.2_Missense_Mutation_p.D223N			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	223	Ig-like C2-type.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.D223N(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAAAGCTTGTCATGCTGAGAC	0.498																																						uc002xkg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(8)|ovary(7)|lung(5)	20						c.(667-669)GAC>AAC		protein tyrosine phosphatase, receptor type, T							188.0	172.0	177.0					20																	41400092		2028	4205	6233	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41400092C>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.667G>A	20.37:g.41400092C>T	ENSP00000362283:p.Asp223Asn					PTPRT_uc010ggj.2_Missense_Mutation_p.D223N	p.D223N	NM_007050	NP_008981	O14522	PTPRT_HUMAN			5	851	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	223			Extracellular (Potential).|Ig-like C2-type.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.667G>A	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674805	0.67928	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.35789	1.31;1.29;1.29;1.3;1.3;1.3;1.3	5.45	5.45	0.79879	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.109437	0.64402	D	0.000012	T	0.29126	0.0724	L	0.31664	0.95	0.80722	D	1	B;B	0.31519	0.327;0.22	B;B	0.29440	0.102;0.047	T	0.04607	-1.0939	10	0.17832	T	0.49	.	19.6268	0.95680	0.0:1.0:0.0:0.0	.	223;223	O14522-1;O14522	.;PTPRT_HUMAN	N	223	ENSP00000362286:D223N;ENSP00000362283:D223N;ENSP00000362289:D223N;ENSP00000348408:D223N;ENSP00000362294:D223N;ENSP00000362280:D223N;ENSP00000362297:D223N	ENSP00000348408:D223N	D	-	1	0	PTPRT	40833506	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.385000	0.79763	2.711000	0.92665	0.650000	0.86243	GAC		0.498	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1				4	163	0	0	0	0.009096	0	4	163		
TFAP2C	7022	broad.mit.edu	37	20	55212966	55212966	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr20:55212966A>T	ENST00000201031.2	+	7	1493	c.1250A>T	c.(1249-1251)aAa>aTa	p.K417I	TFAP2C_ENST00000544508.1_Missense_Mutation_p.K248I	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	417	H-S-H (helix-span-helix), dimerization.				cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K417I(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			AACTACATCAAAGAAGCCCTG	0.488																																						uc002xya.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(1249-1251)AAA>ATA		transcription factor AP-2 gamma							89.0	83.0	85.0					20																	55212966		2203	4300	6503	SO:0001583	missense	7022				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr20:55212966A>T		CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"""estrogen receptor factor 1"""	601602	"""transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"""			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.1250A>T	20.37:g.55212966A>T	ENSP00000201031:p.Lys417Ile					TFAP2C_uc010zzi.1_Missense_Mutation_p.K248I	p.K417I	NM_003222	NP_003213	Q92754	AP2C_HUMAN	Colorectal(105;0.229)		7	1493	+			417			H-S-H (helix-span-helix), dimerization.		B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Missense_Mutation	SNP	ENST00000201031.2	37	c.1250A>T	CCDS13454.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.162959	0.78226	.	.	ENSG00000087510	ENST00000201031;ENST00000544508	D;D	0.97066	-4.23;-4.23	5.48	5.48	0.80851	Transcription factor AP-2, C-terminal (1);	0.045146	0.85682	D	0.000000	D	0.93442	0.7908	N	0.08118	0	0.43896	D	0.996523	P	0.43938	0.822	P	0.45428	0.48	D	0.94602	0.7797	10	0.52906	T	0.07	-17.4375	15.8687	0.79091	1.0:0.0:0.0:0.0	.	417	Q92754	AP2C_HUMAN	I	417;248	ENSP00000201031:K417I;ENSP00000442274:K248I	ENSP00000201031:K417I	K	+	2	0	TFAP2C	54646373	1.000000	0.71417	0.996000	0.52242	0.914000	0.54420	3.786000	0.55431	2.200000	0.70718	0.460000	0.39030	AAA		0.488	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2		NM_003222		5	71	0	0	0	0.000602	0	5	71		
KRTAP22-1	337979	broad.mit.edu	37	21	31973474	31973474	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr21:31973474G>T	ENST00000334680.2	+	1	61	c.35G>T	c.(34-36)gGc>gTc	p.G12V	KRTAP6-2_ENST00000334897.3_5'Flank	NM_181620.1	NP_853651.1	Q3MIV0	KR221_HUMAN	keratin associated protein 22-1	12						intermediate filament (GO:0005882)		p.G12V(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	8						GGTGGCCAGGGCTATGCCAAA	0.463																																						uc011add.1		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|kidney(1)		0						c.(34-36)GGC>GTC		keratin associated protein 22-1							171.0	157.0	161.0					21																	31973474		2203	4300	6503	SO:0001583	missense	337979					intermediate filament		g.chr21:31973474G>T	AP001708	CCDS13601.1	21q22.1	2011-02-10			ENSG00000186924	ENSG00000186924		"""Keratin associated proteins"""	18947	protein-coding gene	gene with protein product						12359730	Standard	NM_181620		Approved	KAP22.1	uc011add.2	Q3MIV0	OTTHUMG00000057778	ENST00000334680.2:c.35G>T	21.37:g.31973474G>T	ENSP00000333887:p.Gly12Val					KRTAP6-2_uc011adc.1_5'Flank	p.G12V	NM_181620	NP_853651	Q3MIV0	KR221_HUMAN			1	35	+			12						Missense_Mutation	SNP	ENST00000334680.2	37	c.35G>T	CCDS13601.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249594	0.22880	.	.	ENSG00000186924	ENST00000334680	T	0.14893	2.47	4.82	1.03	0.20045	.	0.000000	0.44097	D	0.000491	T	0.31451	0.0797	.	.	.	0.09310	N	1	D	0.67145	0.996	D	0.65987	0.94	T	0.06127	-1.0844	9	0.87932	D	0	.	6.9726	0.24656	0.37:0.0:0.63:0.0	.	12	Q3MIV0	KR221_HUMAN	V	12	ENSP00000333887:G12V	ENSP00000333887:G12V	G	+	2	0	KRTAP22-1	30895345	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.294000	0.19047	0.087000	0.17167	-0.136000	0.14681	GGC		0.463	KRTAP22-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128230.2				34	96	1	0	1.45844e-13	0.013726	1.73296e-13	34	96		
KCNJ6	3763	broad.mit.edu	37	21	39087121	39087121	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr21:39087121C>G	ENST00000609713.1	-	3	928	c.339G>C	c.(337-339)ttG>ttC	p.L113F	KCNJ6-IT1_ENST00000435001.1_RNA|KCNJ6_ENST00000288309.6_Missense_Mutation_p.L113F	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	113					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)	p.L113F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TGTATGCGATCAACCACCAGA	0.453																																					Pancreas(48;379 1118 2936 19024 28214)	uc011aej.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(337-339)TTG>TTC		potassium inwardly-rectifying channel J6	Halothane(DB01159)						162.0	155.0	157.0					21																	39087121		1901	4137	6038	SO:0001583	missense	3763				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr21:39087121C>G	U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.339G>C	21.37:g.39087121C>G	ENSP00000477437:p.Leu113Phe					KCNJ6_uc002ywo.2_Missense_Mutation_p.L113F	p.L113F	NM_002240	NP_002231	P48051	IRK6_HUMAN			3	392	-			113			Helical; Name=M1; (By similarity).		Q3MJ74|Q53WW6	Missense_Mutation	SNP	ENST00000609713.1	37	c.339G>C	CCDS42927.1	.	.	.	.	.	.	.	.	.	.	C	8.219	0.802012	0.16397	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	D;D	0.95035	-3.59;-3.59	6.03	-12.1	0.00011	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.88507	0.6455	L	0.58428	1.81	0.33605	D	0.602899	B	0.27679	0.185	B	0.29440	0.102	T	0.70802	-0.4773	10	0.51188	T	0.08	.	9.3284	0.38008	0.0584:0.2897:0.4607:0.1913	.	113	P48051	IRK6_HUMAN	F	113	ENSP00000383330:L113F;ENSP00000288309:L113F	ENSP00000288309:L113F	L	-	3	2	KCNJ6	38008991	0.001000	0.12720	0.022000	0.16811	0.895000	0.52256	-2.153000	0.01287	-2.965000	0.00288	-0.345000	0.07892	TTG		0.453	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194828.2		NM_002240		60	128	0	0	0	0.01441	0	60	128		
LCA5L	150082	broad.mit.edu	37	21	40794949	40794949	+	Silent	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr21:40794949A>G	ENST00000358268.2	-	5	1318	c.790T>C	c.(790-792)Tta>Cta	p.L264L	LCA5L_ENST00000485895.2_Silent_p.L264L|LCA5L_ENST00000380671.2_Silent_p.L264L|LCA5L_ENST00000288350.3_Silent_p.L264L			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	264								p.L264L(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				ATAATAGATAATTTATGAGTG	0.373																																						uc002yxu.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(790-792)TTA>CTA		Leber congenital amaurosis 5-like							129.0	130.0	129.0					21																	40794949		2203	4300	6503	SO:0001819	synonymous_variant	150082							g.chr21:40794949A>G	AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 13"""	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.790T>C	21.37:g.40794949A>G						LCA5L_uc002yxv.2_Silent_p.L264L|LCA5L_uc002yxw.1_Silent_p.L264L|LCA5L_uc002yxx.1_Silent_p.L126L|LCA5L_uc002yxy.2_RNA	p.L264L	NM_152505	NP_689718	O95447	LCA5L_HUMAN			5	1103	-		Prostate(19;1.2e-06)	264					D3DSI0|Q3ZCT0	Silent	SNP	ENST00000358268.2	37	c.790T>C	CCDS13665.1																																																																																				0.373	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141807.2		NM_152505		3	159	0	0	0	0.004672	0	3	159		
DSCAM	1826	broad.mit.edu	37	21	42080497	42080497	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr21:42080497G>A	ENST00000400454.1	-	2	721	c.244C>T	c.(244-246)Caa>Taa	p.Q82*		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	82	Ig-like C2-type 1.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.Q82*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGGAAAATTTGGAGAGTGCCG	0.502																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(244-246)CAA>TAA		Down syndrome cell adhesion molecule isoform							100.0	102.0	101.0					21																	42080497		1921	4141	6062	SO:0001587	stop_gained	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:42080497G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.244C>T	21.37:g.42080497G>A	ENSP00000383303:p.Gln82*					DSCAM_uc002yyr.1_RNA	p.Q82*	NM_001389	NP_001380	O60469	DSCAM_HUMAN			2	696	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	82			Extracellular (Potential).|Ig-like C2-type 1.		O60468	Nonsense_Mutation	SNP	ENST00000400454.1	37	c.244C>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	42	9.322705	0.99137	.	.	ENSG00000171587	ENST00000400454	.	.	.	5.1	4.2	0.49525	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	13.4522	0.61178	0.0:0.0:0.8429:0.1571	.	.	.	.	X	82	.	ENSP00000383303:Q82X	Q	-	1	0	DSCAM	41002367	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.302000	0.96175	1.255000	0.44051	0.585000	0.79938	CAA		0.502	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1		NM_001389		14	144	0	0	0	0.004007	0	14	144		
RIPK4	54101	broad.mit.edu	37	21	43161781	43161781	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr21:43161781C>T	ENST00000352483.2	-	9	1780	c.1716G>A	c.(1714-1716)ttG>ttA	p.L572L	RIPK4_ENST00000542057.1_Silent_p.L461L|RIPK4_ENST00000332512.3_Silent_p.L524L|RIPK4_ENST00000544709.1_Silent_p.L461L|AP001615.9_ENST00000423276.1_RNA			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	572					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L524L(1)|p.L572L(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CGTTCTTCTCCAACAGCAGCC	0.622																																						uc002yzn.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(1570-1572)TTG>TTA		ankyrin repeat domain 3							86.0	69.0	75.0					21																	43161781		2203	4300	6503	SO:0001819	synonymous_variant	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161781C>T	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1716G>A	21.37:g.43161781C>T							p.L524L	NM_020639	NP_065690	P57078	RIPK4_HUMAN			8	1620	-			524					Q96KH0	Silent	SNP	ENST00000352483.2	37	c.1572G>A																																																																																					0.622	RIPK4-201	KNOWN	basic	protein_coding	protein_coding			NM_020639		23	80	0	0	0	0.00278	0	23	80		
PRDM15	63977	broad.mit.edu	37	21	43221851	43221851	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr21:43221851G>T	ENST00000269844.3	-	31	4183	c.4073C>A	c.(4072-4074)aCc>aAc	p.T1358N	PRDM15_ENST00000398548.1_Missense_Mutation_p.T1029N|PRDM15_ENST00000447207.2_Missense_Mutation_p.T992N|PRDM15_ENST00000422911.1_Missense_Mutation_p.T1049N|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000538201.1_Missense_Mutation_p.T1012N	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1358					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.T1358N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CGATGGTGTGGTCACATTTGG	0.557																																						uc002yzq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(4072-4074)ACC>AAC		PR domain containing 15 isoform 1							69.0	71.0	70.0					21																	43221851		2203	4300	6503	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43221851G>T	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.4073C>A	21.37:g.43221851G>T	ENSP00000269844:p.Thr1358Asn					PRDM15_uc002yzo.2_Missense_Mutation_p.T1029N|PRDM15_uc002yzp.2_Missense_Mutation_p.T1049N|PRDM15_uc002yzr.1_Missense_Mutation_p.T1049N	p.T1358N	NM_022115	NP_071398	P57071	PRD15_HUMAN			31	4184	-			1358					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.4073C>A	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	g	10.89	1.479769	0.26511	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	4.47	3.58	0.41010	.	.	.	.	.	T	0.22126	0.0533	N	0.19112	0.55	0.36033	D	0.839564	P;B;P	0.44734	0.842;0.421;0.791	B;B;B	0.40329	0.326;0.154;0.15	T	0.25745	-1.0123	9	0.66056	D	0.02	-23.2304	13.4381	0.61096	0.0:0.1587:0.8413:0.0	.	1358;1049;1029	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	N	1049;1029;1012;992;1358	ENSP00000408592:T1049N;ENSP00000381556:T1029N;ENSP00000444044:T1012N;ENSP00000390245:T992N;ENSP00000269844:T1358N	ENSP00000269844:T1358N	T	-	2	0	PRDM15	42094920	1.000000	0.71417	0.478000	0.27316	0.035000	0.12851	9.113000	0.94321	0.859000	0.35456	-0.308000	0.09152	ACC		0.557	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_022115		4	77	1	0	1.23904e-05	0.000602	1.34202e-05	4	77		
MCM3AP	8888	broad.mit.edu	37	21	47655203	47655203	+	Silent	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr21:47655203C>A	ENST00000397708.1	-	29	6176	c.5922G>T	c.(5920-5922)ctG>ctT	p.L1974L	MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000420074.1_RNA|MCM3AP_ENST00000291688.1_Silent_p.L1974L|MCM3AP-AS1_ENST00000591223.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1974					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)	p.L1974L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCATGTCTAGCAGCGCAGAGA	0.507																																						uc002zir.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						c.(5920-5922)CTG>CTT		minichromosome maintenance complex component 3							93.0	74.0	81.0					21																	47655203		2203	4300	6503	SO:0001819	synonymous_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47655203C>A	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5922G>T	21.37:g.47655203C>A						MCM3APAS_uc002zim.2_Intron|MCM3APAS_uc002zin.2_Intron|MCM3AP_uc002zio.1_Silent_p.L469L|MCM3AP_uc002zip.1_Silent_p.L715L|MCM3AP_uc002ziq.1_Silent_p.L901L|MCM3APAS_uc002zis.1_5'Flank	p.L1974L	NM_003906	NP_003897	O60318	MCM3A_HUMAN			28	5958	-	Breast(49;0.112)		1974					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Silent	SNP	ENST00000397708.1	37	c.5922G>T	CCDS13734.1																																																																																				0.507	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1		NM_003906		4	68	1	0	0.00024832	0.009096	0.000262621	4	68		
POLR2F	5435	broad.mit.edu	37	22	38355472	38355472	+	Silent	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr22:38355472G>T	ENST00000442738.2	+	3	335	c.210G>T	c.(208-210)gcG>gcT	p.A70A	POLR2F_ENST00000470701.1_Silent_p.A65A|POLR2F_ENST00000405557.1_Silent_p.A70A|POLR2F_ENST00000407936.1_Silent_p.A70A|POLR2F_ENST00000460648.1_Intron|POLR2F_ENST00000606538.1_Silent_p.A70A|POLR2F_ENST00000488684.1_3'UTR	NM_021974.3	NP_068809.1	P61218	RPAB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide F	70					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.A70A(1)		breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					GCACCCGAGCGCTCCAGATTG	0.587																																						uc003aul.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(1)	1						c.(208-210)GCG>GCT		DNA directed RNA polymerase II polypeptide F							125.0	112.0	116.0					22																	38355472		2203	4300	6503	SO:0001819	synonymous_variant	5435				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity	g.chr22:38355472G>T		CCDS13963.1	22q13.1	2013-01-21			ENSG00000100142	ENSG00000100142		"""RNA polymerase subunits"""	9193	protein-coding gene	gene with protein product	"""DNA directed RNA polymerase II 14.4 kda polypeptide"""	604414				8786150	Standard	XR_112241		Approved	RPB6, HRBP14.4	uc010gxi.3	P61218	OTTHUMG00000151160	ENST00000442738.2:c.210G>T	22.37:g.38355472G>T						POLR2F_uc010gxi.2_Missense_Mutation_p.A64S|POLR2F_uc003aum.2_RNA	p.A70A	NM_021974	NP_068809	P61218	RPAB2_HUMAN			3	331	+	Melanoma(58;0.045)		70					P41584|Q6IAY3	Silent	SNP	ENST00000442738.2	37	c.210G>T	CCDS13963.1																																																																																				0.587	POLR2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321570.1		NM_021974		26	121	1	0	3.65163e-15	0.00632	4.36467e-15	26	121		
TAB1	10454	broad.mit.edu	37	22	39817833	39817833	+	Splice_Site	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr22:39817833G>A	ENST00000216160.6	+	8	840	c.778G>A	c.(778-780)Gct>Act	p.A260T	TAB1_ENST00000331454.3_Splice_Site_p.A260T	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	260	PP2C-like.				activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart morphogenesis (GO:0003007)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lung development (GO:0030324)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|protein complex (GO:0043234)	catalytic activity (GO:0003824)|enzyme activator activity (GO:0008047)|kinase activator activity (GO:0019209)	p.A260T(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						TCCCCATAGCGCTGCCAAGTC	0.547																																						uc003axt.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|endometrium(1)	breast(1)	1						c.(778-780)GCT>ACT		mitogen-activated protein kinase kinase kinase 7							76.0	74.0	74.0					22																	39817833		2203	4300	6503	SO:0001630	splice_region_variant	10454				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding	g.chr22:39817833G>A	U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324			18157	protein-coding gene	gene with protein product	"""TAK1-binding protein 1"", ""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	602615	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	MAP3K7IP1		8638164, 10187861	Standard	NM_153497		Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000216160.6:c.777-1G>A	22.37:g.39817833G>A						TAB1_uc003axr.2_Missense_Mutation_p.A336T|TAB1_uc011aok.1_Missense_Mutation_p.A94T|TAB1_uc003axu.1_Missense_Mutation_p.A260T	p.A260T	NM_006116	NP_006107	Q15750	TAB1_HUMAN			8	827	+			260			PP2C-like.		Q2PP09|Q8IZW2	Missense_Mutation	SNP	ENST00000216160.6	37	c.778G>A	CCDS13993.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.107607	0.37145	.	.	ENSG00000100324	ENST00000216160;ENST00000331454	T;T	0.09445	2.98;2.98	5.5	-2.18	0.07037	Protein phosphatase 2C-like (4);	0.569552	0.18617	N	0.135999	T	0.03959	0.0111	N	0.12746	0.255	0.41759	D	0.989707	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.43278	-0.9401	10	0.16896	T	0.51	-23.3352	4.1857	0.10397	0.3281:0.0:0.4332:0.2387	.	260;260;404	Q15750-2;Q15750;Q59FT7	.;TAB1_HUMAN;.	T	260	ENSP00000216160:A260T;ENSP00000333049:A260T	ENSP00000216160:A260T	A	+	1	0	TAB1	38147779	0.987000	0.35691	0.013000	0.15412	0.483000	0.33249	1.887000	0.39698	-0.110000	0.12022	-0.136000	0.14681	GCT		0.547	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321313.1		NM_153497	Missense_Mutation	8	34	0	0	0	0.006214	0	8	34		
FAM83F	113828	broad.mit.edu	37	22	40415273	40415273	+	Silent	SNP	C	C	T	rs141929176		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr22:40415273C>T	ENST00000333407.6	+	2	685	c.591C>T	c.(589-591)gaC>gaT	p.D197D	FAM83F_ENST00000473717.1_Silent_p.D29D	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	197								p.D197D(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						TCATCCTGGACGAGGCAGGAG	0.527																																						uc003ayk.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(1)	1						c.(589-591)GAC>GAT		hypothetical protein LOC113828		C		5,4401	11.4+/-27.6	0,5,2198	177.0	137.0	150.0		591	-5.0	1.0	22	dbSNP_134	150	0,8600		0,0,4300	no	coding-synonymous	FAM83F	NM_138435.2		0,5,6498	TT,TC,CC		0.0,0.1135,0.0384		197/501	40415273	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	113828							g.chr22:40415273C>T		CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.591C>T	22.37:g.40415273C>T							p.D197D	NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN			2	685	+			197					Q96FD6	Silent	SNP	ENST00000333407.6	37	c.591C>T	CCDS14000.2																																																																																				0.527	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319624.3		NM_138435		12	59	0	0	0	0.010729	0	12	59		
ZC3H7B	23264	broad.mit.edu	37	22	41752423	41752423	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr22:41752423C>T	ENST00000352645.4	+	21	2717	c.2460C>T	c.(2458-2460)atC>atT	p.I820I	ZC3H7B_ENST00000351589.4_Silent_p.I820I	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	836					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.I820I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GGACCCCCATCAGTTCTCGGG	0.617																																						uc003azw.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(2458-2460)ATC>ATT		zinc finger CCCH-type containing 7B							137.0	129.0	132.0					22																	41752423		2203	4300	6503	SO:0001819	synonymous_variant	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41752423C>T		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.2460C>T	22.37:g.41752423C>T						ZC3H7B_uc010gyl.1_Intron	p.I820I	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN			21	2676	+			836					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Silent	SNP	ENST00000352645.4	37	c.2460C>T	CCDS14013.1																																																																																				0.617	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1		NM_017590		22	139	0	0	0	0.014323	0	22	139		
ZC3H7B	23264	broad.mit.edu	37	22	41753225	41753225	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr22:41753225G>A	ENST00000352645.4	+	23	2983	c.2726G>A	c.(2725-2727)tGc>tAc	p.C909Y	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.C909Y	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	925					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.C909Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AAGTGCCGCTGCGCCCATGGA	0.662																																						uc003azw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(2725-2727)TGC>TAC		zinc finger CCCH-type containing 7B							60.0	57.0	58.0					22																	41753225		2203	4300	6503	SO:0001583	missense	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41753225G>A		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.2726G>A	22.37:g.41753225G>A	ENSP00000345793:p.Cys909Tyr					ZC3H7B_uc010gyl.1_Intron	p.C909Y	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN			23	2942	+			925			C3H1-type 4.|Potential.		A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	37	c.2726G>A	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.256159	0.22965	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.38077	1.16;1.16	4.79	4.79	0.61399	.	0.306111	0.32459	N	0.006063	T	0.11665	0.0284	N	0.01352	-0.895	0.31872	N	0.619549	B	0.02656	0.0	B	0.04013	0.001	T	0.06180	-1.0841	10	0.30078	T	0.28	-24.9943	5.4238	0.16415	0.0962:0.0:0.5585:0.3453	.	909	Q9UGR2-2	.	Y	909	ENSP00000345793:C909Y;ENSP00000263243:C909Y	ENSP00000263243:C909Y	C	+	2	0	ZC3H7B	40083171	0.992000	0.36948	1.000000	0.80357	0.985000	0.73830	1.219000	0.32479	2.486000	0.83907	0.313000	0.20887	TGC		0.662	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1		NM_017590		6	38	0	0	0	0.001168	0	6	38		
ACO2	50	broad.mit.edu	37	22	41923345	41923345	+	Silent	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr22:41923345G>C	ENST00000216254.4	+	16	2029	c.2007G>C	c.(2005-2007)tcG>tcC	p.S669S	POLR3H_ENST00000355209.4_3'UTR|ACO2_ENST00000396512.3_Silent_p.S694S|POLR3H_ENST00000396504.2_3'UTR	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	669					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)	p.S669S(1)		breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						GCGAGGGCTCGAGCCGGGAGC	0.617											OREG0026589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003bac.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(2)|ovary(1)|lung(1)	4						c.(2005-2007)TCG>TCC		aconitase 2, mitochondrial precursor							57.0	53.0	55.0					22																	41923345		2203	4300	6503	SO:0001819	synonymous_variant	50				citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity	g.chr22:41923345G>C	AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"""aconitate hydratase, mitochondrial"""	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.2007G>C	22.37:g.41923345G>C			OREG0026589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	904	ACO2_uc003bad.2_Silent_p.S694S|POLR3H_uc003bae.2_RNA|POLR3H_uc003baf.2_3'UTR|POLR3H_uc003bag.2_3'UTR|POLR3H_uc003bai.2_3'UTR	p.S669S	NM_001098	NP_001089	Q99798	ACON_HUMAN			16	2029	+			669					O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Silent	SNP	ENST00000216254.4	37	c.2007G>C	CCDS14017.1																																																																																				0.617	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259151.1		NM_001098		19	17	0	0	0	0.008871	0	19	17		
TCF20	6942	broad.mit.edu	37	22	42606218	42606218	+	Silent	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr22:42606218C>A	ENST00000359486.3	-	1	5230	c.5094G>T	c.(5092-5094)tcG>tcT	p.S1698S	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Silent_p.S1698S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1698					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.S1698S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCCCCATAACCGAAGACTCTG	0.557																																						uc003bcj.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|skin(1)	5						c.(5092-5094)TCG>TCT		transcription factor 20 isoform 1							66.0	67.0	67.0					22																	42606218		2203	4300	6503	SO:0001819	synonymous_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42606218C>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5094G>T	22.37:g.42606218C>A						TCF20_uc003bck.1_Silent_p.S1698S|TCF20_uc003bnt.2_Silent_p.S1698S	p.S1698S	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN			1	5228	-			1698					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	c.5094G>T	CCDS14033.1																																																																																				0.557	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1		NM_181492		17	64	1	0	1.56452e-12	0.007413	1.84276e-12	17	64		
SELO	83642	broad.mit.edu	37	22	50649091	50649091	+	Missense_Mutation	SNP	G	G	A	rs373024917		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr22:50649091G>A	ENST00000380903.2	+	5	1160	c.1102G>A	c.(1102-1104)Gac>Aac	p.D368N	SELO_ENST00000492092.1_3'UTR|RP3-402G11.28_ENST00000608016.1_RNA	NM_031454.1	NP_113642.1	Q9BVL4	SELO_HUMAN		368								p.D368N(1)					all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CAATGCCTCCGACAACACCGG	0.672											OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0014	5008	,	,		16797	0.0		0.0	False		,,,				2504	0.0					uc011arr.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1102-1104)GAC>AAC		selenoprotein O		G	ASN/ASP	0,4280		0,0,2140	39.0	47.0	44.0		1102	5.8	0.5	22		44	1,8485		0,1,4242	no	missense	SELO	NM_031454.1	23	0,1,6382	AA,AG,GG		0.0118,0.0,0.0078	probably-damaging	368/670	50649091	1,12765	2140	4243	6383	SO:0001583	missense	83642							g.chr22:50649091G>A																												ENST00000380903.2:c.1102G>A	22.37:g.50649091G>A	ENSP00000370288:p.Asp368Asn		OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	971	SELO_uc010hap.2_Missense_Mutation_p.D179N|SELO_uc003bjy.2_Missense_Mutation_p.D48N|SELO_uc003bjz.2_Missense_Mutation_p.D48N	p.D368N	NM_031454	NP_113642	Q9BVL4	SELO_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	5	1160	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	368					Q2TAL2|Q5JZ81|Q8WUI0	Missense_Mutation	SNP	ENST00000380903.2	37	c.1102G>A	CCDS43034.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424276	0.83667	0.0	1.18E-4	ENSG00000073169	ENST00000380903	T	0.61627	0.09	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.87466	0.6184	H	0.99357	4.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92222	0.5785	10	0.87932	D	0	.	20.0969	0.97855	0.0:0.0:1.0:0.0	.	368;211	Q9BVL4;Q6ICA4	SELO_HUMAN;.	N	368	ENSP00000370288:D368N	ENSP00000370288:D368N	D	+	1	0	RP3-402G11.5	48991218	1.000000	0.71417	0.476000	0.27291	0.008000	0.06430	9.670000	0.98625	2.761000	0.94854	0.561000	0.74099	GAC		0.672	SELO-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000075003.2				24	35	0	0	0	0.005443	0	24	35		
MIOX	55586	broad.mit.edu	37	22	50927504	50927504	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr22:50927504C>T	ENST00000216075.6	+	6	518	c.444C>T	c.(442-444)tgC>tgT	p.C148C	MIOX_ENST00000395732.3_Silent_p.C148C|MIOX_ENST00000395733.3_Missense_Mutation_p.A159V	NM_017584.5	NP_060054.4	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	148					inositol catabolic process (GO:0019310)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)	aldo-keto reductase (NADP) activity (GO:0004033)|ferric iron binding (GO:0008199)|inositol oxygenase activity (GO:0050113)|NADP binding (GO:0050661)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen (GO:0016701)	p.C148C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCGTCGGATGCCGTCCGCAGG	0.667																																						uc003bll.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(442-444)TGC>TGT		myo-inositol oxygenase							64.0	56.0	59.0					22																	50927504		2203	4300	6503	SO:0001819	synonymous_variant	55586				inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity	g.chr22:50927504C>T	AF197129	CCDS14092.1	22q13.3	2008-06-11	2005-06-15	2005-06-15	ENSG00000100253	ENSG00000100253			14522	protein-coding gene	gene with protein product	"""kidney-specific protein 32"""	606774	"""aldehyde reductase (aldose reductase) like 6"""	ALDRL6		10944187, 11716759	Standard	NM_017584		Approved		uc003bll.1	Q9UGB7	OTTHUMG00000150207	ENST00000216075.6:c.444C>T	22.37:g.50927504C>T						MIOX_uc003blm.1_Silent_p.C148C|MIOX_uc003bln.1_Missense_Mutation_p.A159V	p.C148C	NM_017584	NP_060054	Q9UGB7	MIOX_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	6	558	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	148					Q05DJ6|Q5S8C9|Q9BZZ1|Q9UHB8	Silent	SNP	ENST00000216075.6	37	c.444C>T	CCDS14092.1	.	.	.	.	.	.	.	.	.	.	c	18.76	3.691823	0.68271	.	.	ENSG00000100253	ENST00000395733	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	T	0.76449	0.3989	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73500	-0.3963	7	0.27785	T	0.31	-0.0102	16.2157	0.82217	0.0:1.0:0.0:0.0	.	159	Q9UGB7-2	.	V	159	.	ENSP00000379082:A159V	A	+	2	0	MIOX	49274370	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	4.599000	0.61076	2.423000	0.82170	0.506000	0.49869	GCC		0.667	MIOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316835.1		NM_017584		3	7	0	0	0	0.009096	0	3	7		
ATP2B2	491	broad.mit.edu	37	3	10417161	10417161	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:10417161C>G	ENST00000352432.4	-	10	1438	c.1369G>C	c.(1369-1371)Gag>Cag	p.E457Q	ATP2B2_ENST00000383800.4_Missense_Mutation_p.E412Q|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E443Q|ATP2B2_ENST00000360273.2_Missense_Mutation_p.E457Q|ATP2B2_ENST00000397077.1_Missense_Mutation_p.E412Q			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	457					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.E457Q(1)|p.E412Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GGGAGCCCCTCGGGCACGGCG	0.622																																					Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1369-1371)GAG>CAG		plasma membrane calcium ATPase 2 isoform 1							72.0	75.0	74.0					3																	10417161		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10417161C>G	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1369G>C	3.37:g.10417161C>G	ENSP00000324172:p.Glu457Gln					ATP2B2_uc003bvv.2_Missense_Mutation_p.E412Q|ATP2B2_uc003bvw.2_Missense_Mutation_p.E412Q|ATP2B2_uc010hdo.2_Missense_Mutation_p.E162Q	p.E457Q	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			11	1808	-			457			Helical; (Potential).		O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.1369G>C	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947352	0.73672	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91;-2.91;-2.91	4.34	4.34	0.51931	ATPase, P-type, ATPase-associated domain (1);	0.052045	0.85682	D	0.000000	D	0.97105	0.9054	H	0.94620	3.56	0.80722	D	1	B;D;D	0.71674	0.138;0.993;0.998	B;D;D	0.74674	0.038;0.969;0.984	D	0.98485	1.0607	10	0.87932	D	0	-33.649	17.0685	0.86567	0.0:1.0:0.0:0.0	.	392;424;457	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	Q	457;412;412;457;443;392;313;457	ENSP00000324172:E457Q;ENSP00000373311:E412Q;ENSP00000380267:E412Q;ENSP00000353414:E457Q;ENSP00000344677:E443Q;ENSP00000414854:E313Q	ENSP00000342954:E457Q	E	-	1	0	ATP2B2	10392161	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.234000	0.73211	0.561000	0.74099	GAG		0.622	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2		NM_001683		22	90	0	0	0	0.003954	0	22	90		
ARPP21	10777	broad.mit.edu	37	3	35770879	35770879	+	Missense_Mutation	SNP	G	G	T	rs554898023		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:35770879G>T	ENST00000187397.4	+	15	1766	c.1310G>T	c.(1309-1311)gGt>gTt	p.G437V	ARPP21_ENST00000337271.5_Missense_Mutation_p.G383V|ARPP21_ENST00000444190.1_Missense_Mutation_p.G383V|ARPP21_ENST00000458225.1_Missense_Mutation_p.G403V|ARPP21_ENST00000417925.1_Missense_Mutation_p.G403V	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	437					cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.G437V(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						CTAGTCTCAGGTGTGGCAGCT	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		15331	0.001		0.0	False		,,,				2504	0.0					uc003cgb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(1309-1311)GGT>GTT		cyclic AMP-regulated phosphoprotein, 21 kD							60.0	60.0	60.0					3																	35770879		2203	4300	6503	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35770879G>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.1310G>T	3.37:g.35770879G>T	ENSP00000187397:p.Gly437Val					ARPP21_uc003cga.2_Missense_Mutation_p.G383V|ARPP21_uc011axy.1_Missense_Mutation_p.G403V|ARPP21_uc003cgf.2_Missense_Mutation_p.G238V|ARPP21_uc003cgg.2_5'UTR	p.G437V	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN			15	1574	+			437					B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.1310G>T	CCDS2661.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.32|12.32	1.901658|1.901658	0.33535|0.33535	.|.	.|.	ENSG00000172995|ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925|ENST00000425289	T;T;T;T;T|.	0.44482|.	0.92;0.92;0.92;0.92;0.92|.	6.06|6.06	5.18|5.18	0.71444|0.71444	.|.	0.548860|.	0.20979|.	N|.	0.082247|.	T|T	0.49012|0.49012	0.1532|0.1532	L|L	0.38531|0.38531	1.155|1.155	0.23708|0.23708	N|N	0.997058|0.997058	P;P;P|.	0.42409|.	0.695;0.779;0.553|.	P;P;B|.	0.46419|.	0.51;0.516;0.35|.	T|T	0.42172|0.42172	-0.9467|-0.9467	10|5	0.28530|.	T|.	0.3|.	-3.2296|-3.2296	17.2809|17.2809	0.87128|0.87128	0.0:0.1255:0.8745:0.0|0.0:0.1255:0.8745:0.0	.|.	403;437;383|.	Q9UBL0-3;Q9UBL0;Q9UBL0-4|.	.;ARP21_HUMAN;.|.	V|S	403;383;383;437;403|209	ENSP00000414351:G403V;ENSP00000337792:G383V;ENSP00000405276:G383V;ENSP00000187397:G437V;ENSP00000412326:G403V|.	ENSP00000187397:G437V|.	G|R	+|+	2|3	0|2	ARPP21|ARPP21	35745883|35745883	0.995000|0.995000	0.38212|0.38212	0.003000|0.003000	0.11579|0.11579	0.582000|0.582000	0.36321|0.36321	5.516000|5.516000	0.67055|0.67055	1.534000|1.534000	0.49203|0.49203	0.650000|0.650000	0.86243|0.86243	GGT|AGG		0.587	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2		NM_198399		7	49	1	0	5.18039e-06	0.00308	5.67176e-06	7	49		
VILL	50853	broad.mit.edu	37	3	38047993	38047993	+	Silent	SNP	C	C	A	rs367991919		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:38047993C>A	ENST00000283713.6	+	19	2525	c.2259C>A	c.(2257-2259)gcC>gcA	p.A753A	VILL_ENST00000465644.1_Silent_p.A471A|VILL_ENST00000383759.2_Silent_p.A753A			O15195	VILL_HUMAN	villin-like	753					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)	p.A753A(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GGGCAGGTGCCGTGGCCCTGC	0.622																																						uc003chj.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(2257-2259)GCC>GCA		villin-like protein							51.0	62.0	59.0					3																	38047993		2196	4287	6483	SO:0001819	synonymous_variant	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38047993C>A		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.2259C>A	3.37:g.38047993C>A						VILL_uc003chl.2_Silent_p.A753A	p.A753A	NM_015873	NP_056957	O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	19	2545	+			753					A8MZP1|Q9BT80|Q9BWH7	Silent	SNP	ENST00000283713.6	37	c.2259C>A	CCDS2670.2																																																																																				0.622	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3		NM_015873		63	69	1	0	5.19286e-32	0.01441	6.47505e-32	63	69		
SCN10A	6336	broad.mit.edu	37	3	38739807	38739807	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:38739807T>G	ENST00000449082.2	-	27	4903	c.4904A>C	c.(4903-4905)gAg>gCg	p.E1635A		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1635					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.E1635A(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GATGCCAGCCTCCCACCTCAC	0.552																																						uc003ciq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(4903-4905)GAG>GCG		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						177.0	165.0	169.0					3																	38739807		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38739807T>G	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4904A>C	3.37:g.38739807T>G	ENSP00000390600:p.Glu1635Ala						p.E1635A	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	27	4904	-			1635			IV.		A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.4904A>C	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	T	18.43	3.621574	0.66787	.	.	ENSG00000185313	ENST00000449082	D	0.98585	-5.01	5.27	5.27	0.74061	Ion transport (1);	0.179711	0.49305	D	0.000146	D	0.98576	0.9524	L	0.61218	1.895	0.48762	D	0.999709	D	0.89917	1.0	D	0.91635	0.999	D	0.99846	1.1066	10	0.72032	D	0.01	.	15.3582	0.74443	0.0:0.0:0.0:1.0	.	1635	Q9Y5Y9	SCNAA_HUMAN	A	1635	ENSP00000390600:E1635A	ENSP00000390600:E1635A	E	-	2	0	SCN10A	38714811	1.000000	0.71417	0.990000	0.47175	0.532000	0.34746	7.858000	0.86971	2.214000	0.71695	0.533000	0.62120	GAG		0.552	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3		NM_006514		5	171	0	0	0	0.000602	0	5	171		
RTP3	83597	broad.mit.edu	37	3	46542298	46542298	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:46542298G>A	ENST00000296142.3	+	2	1180	c.608G>A	c.(607-609)tGc>tAc	p.C203Y		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	203					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.C203Y(1)		endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TCCTACGCATGCCAAAACCAC	0.458																																						uc003cps.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(607-609)TGC>TAC		transmembrane protein 7							80.0	77.0	78.0					3																	46542298		2203	4300	6503	SO:0001583	missense	83597				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	g.chr3:46542298G>A	AJ312776	CCDS2740.1	3p21.3	2014-02-20	2006-11-21	2006-02-07	ENSG00000163825	ENSG00000163825		"""Receptor transporter proteins"""	15572	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 3"""	607181	"""transmembrane protein 7"", ""receptor transporter protein 3"""	TMEM7		16271481, 15550249, 16720576	Standard	NM_031440		Approved	LTM1, Z3CXXC3	uc003cps.1	Q9BQQ7	OTTHUMG00000133483	ENST00000296142.3:c.608G>A	3.37:g.46542298G>A	ENSP00000296142:p.Cys203Tyr						p.C203Y	NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)	2	676	+			203			Cytoplasmic (Potential).		A2RRP6	Missense_Mutation	SNP	ENST00000296142.3	37	c.608G>A	CCDS2740.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.150943	0.00029	.	.	ENSG00000163825	ENST00000296142	T	0.18657	2.2	1.98	-3.35	0.04928	.	2.381310	0.01701	N	0.027182	T	0.11196	0.0273	N	0.14661	0.345	0.09310	N	1	B	0.15930	0.015	B	0.19391	0.025	T	0.36890	-0.9729	10	0.02654	T	1	5.1113	8.7712	0.34733	0.0:0.3313:0.5592:0.1094	.	203	Q9BQQ7	RTP3_HUMAN	Y	203	ENSP00000296142:C203Y	ENSP00000296142:C203Y	C	+	2	0	RTP3	46517302	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.429000	0.02437	-1.484000	0.01856	-2.780000	0.00118	TGC		0.458	RTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257379.2		NM_031440		4	72	0	0	0	0.009096	0	4	72		
SMARCC1	6599	broad.mit.edu	37	3	47755937	47755937	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:47755937C>T	ENST00000254480.5	-	8	879	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	254					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)	p.E254K(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		GGTGGATCTTCAATTTCAGCA	0.289																																						uc003crq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|lung(1)	3						c.(760-762)GAA>AAA		SWI/SNF-related matrix-associated							90.0	92.0	91.0					3																	47755937		2202	4300	6502	SO:0001583	missense	6599				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	g.chr3:47755937C>T	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.760G>A	3.37:g.47755937C>T	ENSP00000254480:p.Glu254Lys					SMARCC1_uc011bbd.1_Missense_Mutation_p.E145K	p.E254K	NM_003074	NP_003065	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	8	878	-			254					Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	c.760G>A	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242921	0.79912	.	.	ENSG00000173473	ENST00000254480	T	0.50548	0.74	5.6	5.6	0.85130	BRCT (1);Chromo domain/shadow (1);	0.103412	0.64402	D	0.000001	T	0.44705	0.1306	L	0.38175	1.15	0.80722	D	1	B	0.22851	0.076	B	0.27608	0.081	T	0.36939	-0.9727	10	0.72032	D	0.01	-11.4436	18.5962	0.91230	0.0:1.0:0.0:0.0	.	254	Q92922	SMRC1_HUMAN	K	254	ENSP00000254480:E254K	ENSP00000254480:E254K	E	-	1	0	SMARCC1	47730941	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.371000	0.79600	2.810000	0.96702	0.585000	0.79938	GAA		0.289	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1				22	49	0	0	0	0.00632	0	22	49		
OR5K2	402135	broad.mit.edu	37	3	98217282	98217282	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:98217282G>T	ENST00000427338.1	+	1	835	c.758G>T	c.(757-759)gGa>gTa	p.G253V	CLDND1_ENST00000502288.1_Intron	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G253V(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTATTCTATGGATCTATTTTT	0.328																																						uc011bgx.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(757-759)GGA>GTA		olfactory receptor, family 5, subfamily K,							86.0	86.0	86.0					3																	98217282		2203	4300	6503	SO:0001583	missense	402135				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98217282G>T	AC021660	CCDS33804.1	3q11.2	2013-09-23			ENSG00000231861	ENSG00000231861		"""GPCR / Class A : Olfactory receptors"""	14774	protein-coding gene	gene with protein product							Standard	NM_001004737		Approved		uc011bgx.2	Q8NHB8	OTTHUMG00000160049	ENST00000427338.1:c.758G>T	3.37:g.98217282G>T	ENSP00000393889:p.Gly253Val						p.G253V	NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN			1	758	+			253			Helical; Name=6; (Potential).		B2RN70|Q6IF47	Missense_Mutation	SNP	ENST00000427338.1	37	c.758G>T	CCDS33804.1	.	.	.	.	.	.	.	.	.	.	G	1.508	-0.550298	0.03996	.	.	ENSG00000231861	ENST00000427338	T	0.35605	1.3	2.98	2.1	0.27182	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40064	N	0.001183	T	0.39009	0.1062	M	0.74881	2.28	0.23156	N	0.998207	B	0.24675	0.109	B	0.36922	0.236	T	0.45145	-0.9281	10	0.87932	D	0	-11.7485	3.8738	0.09048	0.1299:0.0:0.6356:0.2345	.	253	Q8NHB8	OR5K2_HUMAN	V	253	ENSP00000393889:G253V	ENSP00000393889:G253V	G	+	2	0	OR5K2	99699972	0.004000	0.15560	0.771000	0.31576	0.015000	0.08874	0.773000	0.26661	0.809000	0.34255	-0.424000	0.05967	GGA		0.328	OR5K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359020.2				10	50	1	0	0.00829132	0.008291	0.00861103	10	50		
RPL24	6152	broad.mit.edu	37	3	101400024	101400024	+	Silent	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:101400024C>A	ENST00000394077.3	-	6	534	c.429G>T	c.(427-429)gtG>gtT	p.V143V	ZBTB11-AS1_ENST00000609682.1_RNA|RPL24_ENST00000495401.1_Nonstop_Mutation_p.*122L	NM_000986.3	NP_000977.1	P83731	RL24_HUMAN	ribosomal protein L24	143					cellular protein metabolic process (GO:0044267)|exit from mitosis (GO:0010458)|gene expression (GO:0010467)|mitotic cell cycle checkpoint (GO:0007093)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|optic nerve development (GO:0021554)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|ribosomal large subunit assembly (GO:0000027)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.V143V(1)		large_intestine(1)|lung(2)|urinary_tract(1)	4						TCACAGGCTTCACAATCTTTT	0.383																																						uc003dvh.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(427-429)GTG>GTT		ribosomal protein L24							116.0	126.0	123.0					3																	101400024		2203	4300	6503	SO:0001819	synonymous_variant	6152				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr3:101400024C>A	AB007177	CCDS33809.1	3q12	2011-04-06			ENSG00000114391	ENSG00000114391		"""L ribosomal proteins"""	10325	protein-coding gene	gene with protein product		604180				9582194	Standard	NM_000986		Approved	L24	uc003dvh.1	P83731	OTTHUMG00000159146	ENST00000394077.3:c.429G>T	3.37:g.101400024C>A						RPL24_uc003dvi.1_Nonstop_Mutation_p.*122L	p.V143V	NM_000986	NP_000977	P83731	RL24_HUMAN			6	472	-			143					B2R4Y3|P38663|Q6IBS3	Silent	SNP	ENST00000394077.3	37	c.429G>T	CCDS33809.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120294	0.56613	.	.	ENSG00000114391	ENST00000495401	.	.	.	5.53	0.484	0.16825	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.269	0.02017	0.127:0.3309:0.2479:0.2942	.	.	.	.	L	122	.	.	X	-	2	2	RPL24	102882714	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	0.871000	0.28023	0.013000	0.14918	0.655000	0.94253	TGA		0.383	RPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353487.1		NM_000986		38	106	1	0	8.20599e-20	0.011902	1.00767e-19	38	106		
MYLK	4638	broad.mit.edu	37	3	123419119	123419119	+	Missense_Mutation	SNP	C	C	T	rs372794395|rs72491150|rs75967604	byFrequency	TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:123419119C>T	ENST00000475616.1	-	15	3195	c.3196G>A	c.(3196-3198)Gaa>Aaa	p.E1066K	MYLK_ENST00000359169.1_Missense_Mutation_p.E1066K|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000360772.3_Missense_Mutation_p.E1066K|MYLK_ENST00000346322.5_Missense_Mutation_p.E997K|MYLK_ENST00000360304.3_Missense_Mutation_p.E1066K			Q15746	MYLK_HUMAN	myosin light chain kinase	1066	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.E1066K(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TTCTTGAGTTCTTCTTTGCTA	0.527																																						uc003ego.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)|skin(2)|stomach(1)	9						c.(3196-3198)GAA>AAA		myosin light chain kinase isoform 1							262.0	266.0	265.0					3																	123419119		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123419119C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3196G>A	3.37:g.123419119C>T	ENSP00000418335:p.Glu1066Lys					MYLK_uc011bjw.1_Missense_Mutation_p.E1066K|MYLK_uc003egp.2_Missense_Mutation_p.E997K|MYLK_uc003egq.2_Missense_Mutation_p.E1066K|MYLK_uc003egr.2_Missense_Mutation_p.E997K|MYLK_uc003egs.2_Missense_Mutation_p.E890K|MYLK_uc003egt.2_Missense_Mutation_p.E257K	p.E1066K	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	18	3478	-		Lung NSC(201;0.0496)	1066			Actin-binding (calcium/calmodulin- insensitive) (By similarity).		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.3196G>A	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.349161	0.24426	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.66099	-0.19;-0.14;-0.19;-0.13;-0.14	5.69	5.69	0.88448	.	.	.	.	.	T	0.63236	0.2494	M	0.68952	2.095	0.80722	D	1	B;B;B;B;B;B	0.21821	0.026;0.003;0.061;0.045;0.061;0.015	B;B;B;B;B;B	0.23275	0.031;0.003;0.045;0.031;0.045;0.014	T	0.58482	-0.7629	9	0.33940	T	0.23	.	17.998	0.89189	0.0:1.0:0.0:0.0	.	1066;144;997;1066;997;1066	Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	K	1066;1066;1066;997;1066	ENSP00000354004:E1066K;ENSP00000353452:E1066K;ENSP00000352088:E1066K;ENSP00000320622:E997K;ENSP00000418335:E1066K	ENSP00000320622:E997K	E	-	1	0	MYLK	124901809	0.997000	0.39634	1.000000	0.80357	0.169000	0.22640	1.326000	0.33735	2.692000	0.91855	0.505000	0.49811	GAA		0.527	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1		NM_053025		141	162	0	0	0	0.01441	0	141	162		
NEK11	79858	broad.mit.edu	37	3	130871348	130871348	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:130871348G>A	ENST00000383366.4	+	8	1057	c.764G>A	c.(763-765)aGa>aAa	p.R255K	NEK11_ENST00000511262.1_Missense_Mutation_p.R255K|NEK11_ENST00000510688.1_Missense_Mutation_p.R255K|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000356918.4_Missense_Mutation_p.R255K|NEK11_ENST00000510769.1_Intron|NEK11_ENST00000429253.2_Missense_Mutation_p.R255K|NEK11_ENST00000508196.1_Missense_Mutation_p.R255K|NEK11_ENST00000412440.2_Missense_Mutation_p.R107K|NEK11_ENST00000507910.1_Missense_Mutation_p.R255K	NM_024800.4	NP_079076.3			NIMA-related kinase 11									p.R255K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						CTCCCTGAGAGATATCCAAAA	0.333																																						uc003eny.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(4)|stomach(1)|central_nervous_system(1)	6						c.(763-765)AGA>AAA		NIMA-related kinase 11 isoform 1							69.0	71.0	70.0					3																	130871348		2201	4300	6501	SO:0001583	missense	79858				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:130871348G>A	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000383366.4:c.764G>A	3.37:g.130871348G>A	ENSP00000372857:p.Arg255Lys					NEK11_uc003enx.2_Missense_Mutation_p.R255K|NEK11_uc003eoa.2_Missense_Mutation_p.R255K|NEK11_uc003enz.2_Missense_Mutation_p.R73K|NEK11_uc010htn.2_RNA|NEK11_uc011blk.1_Missense_Mutation_p.R107K|NEK11_uc011bll.1_Intron|NEK11_uc011blm.1_Missense_Mutation_p.R255K|NEK11_uc010hto.1_Missense_Mutation_p.R107K	p.R255K	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN			8	1090	+			255			Protein kinase.			Missense_Mutation	SNP	ENST00000383366.4	37	c.764G>A	CCDS3069.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204338	0.38905	.	.	ENSG00000114670	ENST00000429253;ENST00000356918;ENST00000510688;ENST00000511262;ENST00000383366;ENST00000412440;ENST00000507910;ENST00000508196	T;T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.81	0.977	0.19733	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.488989	0.18980	N	0.125911	T	0.37265	0.0997	N	0.21324	0.655	0.09310	N	1	B;B;B;B;B	0.20671	0.047;0.033;0.027;0.033;0.008	B;B;B;B;B	0.21151	0.02;0.033;0.02;0.033;0.012	T	0.13791	-1.0496	10	0.13108	T	0.6	.	2.8185	0.05464	0.1892:0.2259:0.4683:0.1166	.	255;107;255;255;255	Q8NG66-3;B4DDN2;Q8NG66-4;Q8NG66;Q8NG66-2	.;.;.;NEK11_HUMAN;.	K	255;255;255;255;255;107;255;255	ENSP00000397180:R255K;ENSP00000349389:R255K;ENSP00000423458:R255K;ENSP00000425114:R255K;ENSP00000372857:R255K;ENSP00000411888:R107K;ENSP00000426662:R255K;ENSP00000421851:R255K	ENSP00000349389:R255K	R	+	2	0	NEK11	132354038	0.908000	0.30866	0.000000	0.03702	0.966000	0.64601	1.563000	0.36364	-0.100000	0.12241	0.655000	0.94253	AGA		0.333	NEK11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356755.1		NM_024800		19	84	0	0	0	0.007413	0	19	84		
MED12L	116931	broad.mit.edu	37	3	151102914	151102914	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:151102914A>G	ENST00000474524.1	+	34	4956	c.4918A>G	c.(4918-4920)Atg>Gtg	p.M1640V	P2RY12_ENST00000302632.3_5'Flank|MED12L_ENST00000273432.4_Missense_Mutation_p.M1500V	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1640						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.M1640V(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGTGAACCTATGGGTTCCTT	0.348																																						uc003eyp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(4918-4920)ATG>GTG		mediator of RNA polymerase II transcription,							123.0	122.0	123.0					3																	151102914		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151102914A>G	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4918A>G	3.37:g.151102914A>G	ENSP00000417235:p.Met1640Val					MED12L_uc011bnz.1_Missense_Mutation_p.M1500V|P2RY12_uc011boa.1_5'Flank|P2RY12_uc003eyx.1_5'Flank|MED12L_uc003eyy.1_Missense_Mutation_p.M803V	p.M1640V	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		34	4956	+			1640					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.4918A>G	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	A	6.315	0.426154	0.11987	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.58940	0.52;0.3	5.63	5.63	0.86233	.	0.101723	0.64402	D	0.000001	T	0.50086	0.1595	L	0.36672	1.1	0.41751	D	0.989668	B;B;B	0.22346	0.041;0.058;0.068	B;B;B	0.20955	0.032;0.009;0.021	T	0.48305	-0.9047	10	0.52906	T	0.07	-30.3372	15.5314	0.75964	1.0:0.0:0.0:0.0	.	1500;1639;1640	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	V	1640;1500	ENSP00000417235:M1640V;ENSP00000273432:M1500V	ENSP00000273432:M1500V	M	+	1	0	MED12L	152585604	0.997000	0.39634	0.997000	0.53966	0.997000	0.91878	3.714000	0.54889	2.145000	0.66743	0.533000	0.62120	ATG		0.348	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2		NM_053002		109	77	0	0	0	0.01441	0	109	77		
GPR149	344758	broad.mit.edu	37	3	154055940	154055940	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:154055940T>C	ENST00000389740.2	-	4	1843	c.1744A>G	c.(1744-1746)Ata>Gta	p.I582V		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	582					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I582V(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GCTGGAGTTATTTTTTGCCCT	0.453																																						uc003faa.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)	6						c.(1744-1746)ATA>GTA		G protein-coupled receptor 149							140.0	140.0	140.0					3																	154055940		1844	4086	5930	SO:0001583	missense	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154055940T>C	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1744A>G	3.37:g.154055940T>C	ENSP00000374390:p.Ile582Val						p.I582V	NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		4	1844	-			582			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000389740.2	37	c.1744A>G	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	T	19.19	3.778879	0.70107	.	.	ENSG00000174948	ENST00000389740	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.61602	0.2360	N	0.24115	0.695	0.46701	D	0.99916	D	0.69078	0.997	P	0.60886	0.88	T	0.67019	-0.5776	9	0.87932	D	0	-22.3629	15.7093	0.77612	0.0:0.0:0.0:1.0	.	582	Q86SP6	GP149_HUMAN	V	582	.	ENSP00000374390:I582V	I	-	1	0	GPR149	155538634	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	4.733000	0.62036	2.113000	0.64589	0.528000	0.53228	ATA		0.453	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1		XM_293580		6	272	0	0	0	0.001984	0	6	272		
PLCH1	23007	broad.mit.edu	37	3	155212182	155212182	+	Silent	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:155212182G>T	ENST00000340059.7	-	15	1982	c.1983C>A	c.(1981-1983)cgC>cgA	p.R661R	PLCH1_ENST00000460012.1_Silent_p.R643R|PLCH1_ENST00000414191.1_Silent_p.R643R|PLCH1_ENST00000447496.2_Silent_p.R661R|PLCH1_ENST00000334686.6_Silent_p.R643R|PLCH1_ENST00000494598.1_Silent_p.R661R	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	661	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.R661R(1)|p.R643R(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGGAATCAATGCGGTAGGCAG	0.453																																						uc011bok.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	skin(3)|ovary(1)	4						c.(1981-1983)CGC>CGA		phospholipase C eta 1 isoform a							167.0	152.0	157.0					3																	155212182		2203	4300	6503	SO:0001819	synonymous_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155212182G>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1983C>A	3.37:g.155212182G>T						PLCH1_uc011boj.1_Silent_p.R661R|PLCH1_uc011bol.1_Silent_p.R643R	p.R661R	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		15	2260	-			661			PI-PLC Y-box.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	c.1983C>A	CCDS46939.1																																																																																				0.453	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1		NM_014996		5	80	1	0	0.000602214	0.000602	0.000628668	5	80		
VEPH1	79674	broad.mit.edu	37	3	156983384	156983384	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:156983384G>A	ENST00000362010.2	-	13	2503	c.2196C>T	c.(2194-2196)ttC>ttT	p.F732F	VEPH1_ENST00000543418.1_Silent_p.F687F|RP11-550I24.2_ENST00000488040.1_RNA|VEPH1_ENST00000392832.2_Silent_p.F732F|RP11-550I24.2_ENST00000487238.1_RNA|RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000392833.2_Silent_p.F687F	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	732	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					plasma membrane (GO:0005886)		p.F732F(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACCTTTTGATGAACTTCCATC	0.383																																						uc003fbj.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(3)|ovary(1)|lung(1)	5						c.(2194-2196)TTC>TTT		ventricular zone expressed PH domain homolog 1							174.0	159.0	164.0					3																	156983384		2203	4300	6503	SO:0001819	synonymous_variant	79674					plasma membrane		g.chr3:156983384G>A	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.2196C>T	3.37:g.156983384G>A						VEPH1_uc003fbk.1_Silent_p.F732F|VEPH1_uc010hvu.1_Silent_p.F687F	p.F732F	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		13	2513	-			732			PH.		D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Silent	SNP	ENST00000362010.2	37	c.2196C>T	CCDS3179.1																																																																																				0.383	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3		NM_024621		55	60	0	0	0	0.01441	0	55	60		
MECOM	2122	broad.mit.edu	37	3	168845829	168845829	+	Nonsense_Mutation	SNP	G	G	T	rs188482846	byFrequency	TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:168845829G>T	ENST00000464456.1	-	4	1269	c.69C>A	c.(67-69)tgC>tgA	p.C23*	MECOM_ENST00000468789.1_Nonsense_Mutation_p.C23*|MECOM_ENST00000460814.1_Nonsense_Mutation_p.C23*|MECOM_ENST00000392736.3_Nonsense_Mutation_p.C23*|MECOM_ENST00000494292.1_Nonsense_Mutation_p.C211*|MECOM_ENST00000433243.2_Nonsense_Mutation_p.C23*|MECOM_ENST00000264674.3_Nonsense_Mutation_p.C87*|MECOM_ENST00000472280.1_Nonsense_Mutation_p.C23*	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C23*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CACAGTCTTCGCAGCGATATT	0.433																																						uc003ffi.3		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						c.(67-69)TGC>TGA		MDS1 and EVI1 complex locus isoform b							118.0	114.0	115.0					3																	168845829		2203	4300	6503	SO:0001587	stop_gained	2122				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:168845829G>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.69C>A	3.37:g.168845829G>T	ENSP00000419770:p.Cys23*					MECOM_uc010hwk.1_Nonsense_Mutation_p.C46*|MECOM_uc003ffj.3_Nonsense_Mutation_p.C87*|MECOM_uc011bpi.1_Nonsense_Mutation_p.C23*|MECOM_uc003ffn.3_Nonsense_Mutation_p.C23*|MECOM_uc003ffk.2_Nonsense_Mutation_p.C23*|MECOM_uc003ffl.2_Nonsense_Mutation_p.C183*|MECOM_uc011bpj.1_Nonsense_Mutation_p.C211*|MECOM_uc011bpk.1_Nonsense_Mutation_p.C13*|MECOM_uc010hwn.2_Nonsense_Mutation_p.C211*|MECOM_uc003ffm.1_Nonsense_Mutation_p.C87*	p.C23*	NM_005241	NP_005232	Q03112	EVI1_HUMAN			4	338	-			23			C2H2-type 1.|Interaction with MAPK9, SMAD3 and probably SUV39H1.		Q13466|Q6FH90	Nonsense_Mutation	SNP	ENST00000464456.1	37	c.69C>A	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	A	35	5.436853	0.96168	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243;ENST00000484519;ENST00000460890;ENST00000487503;ENST00000494597;ENST00000475754;ENST00000481315	.	.	.	5.44	1.78	0.24846	.	0.186630	0.39146	N	0.001443	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3728	10.1345	0.42697	0.6353:0.0:0.3647:0.0	.	.	.	.	X	87;23;23;23;211;23;23;23;23;23;23;23;23;23	.	ENSP00000264674:C87X	C	-	3	2	MECOM	170328523	0.961000	0.32948	0.997000	0.53966	0.952000	0.60782	0.285000	0.18883	-0.152000	0.11156	-1.214000	0.01621	TGC		0.433	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1		NM_005241, NM_004991		12	120	1	0	0.00010058	0.013537	0.000107214	12	120		
ACTRT3	84517	broad.mit.edu	37	3	169485742	169485742	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:169485742C>G	ENST00000330368.2	-	2	971	c.597G>C	c.(595-597)ttG>ttC	p.L199F	RP11-816J6.3_ENST00000602879.1_RNA|TERC_ENST00000602385.1_lincRNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3	199						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)		p.L199F(1)									AAGCACTGAGCAACATGATAC	0.468																																						uc003ffs.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(595-597)TTG>TTC		actin related protein M1							153.0	143.0	146.0					3																	169485742		2203	4300	6503	SO:0001583	missense	84517					cytoplasm|cytoskeleton		g.chr3:169485742C>G	AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"""actin related protein M1"""	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9		ENST00000330368.2:c.597G>C	3.37:g.169485742C>G	ENSP00000333037:p.Leu199Phe					TERC_uc003ffr.1_5'Flank	p.L199F	NM_032487	NP_115876	Q9BYD9	ARPM1_HUMAN	Epithelial(2;4.03e-64)|all cancers(2;5.01e-59)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)		2	972	-	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		199					Q96IS0|Q96NJ0	Missense_Mutation	SNP	ENST00000330368.2	37	c.597G>C	CCDS3206.1	.	.	.	.	.	.	.	.	.	.	C	0.982	-0.696682	0.03279	.	.	ENSG00000184378	ENST00000330368	D	0.94046	-3.34	4.95	4.07	0.47477	.	0.000000	0.44097	D	0.000497	D	0.85592	0.5732	N	0.04820	-0.15	0.34856	D	0.742136	P	0.51537	0.946	P	0.49528	0.614	D	0.86602	0.1867	10	0.87932	D	0	.	4.2527	0.10702	0.2117:0.6399:0.0:0.1484	.	199	Q9BYD9	ARPM1_HUMAN	F	199	ENSP00000333037:L199F	ENSP00000333037:L199F	L	-	3	2	AC078802.1	170968436	0.009000	0.17119	1.000000	0.80357	0.144000	0.21451	0.623000	0.24447	2.733000	0.93635	0.561000	0.74099	TTG		0.468	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467797.1		NM_032487		7	118	0	0	0	0.006214	0	7	118		
MFN1	55669	broad.mit.edu	37	3	179082125	179082125	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:179082125G>C	ENST00000471841.1	+	6	703	c.577G>C	c.(577-579)Gat>Cat	p.D193H	MFN1_ENST00000280653.7_Missense_Mutation_p.D193H|MFN1_ENST00000263969.5_Missense_Mutation_p.D193H	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	193	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.D193H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TAGCTGGATTGATAAGTTTTG	0.338																																						uc003fjs.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|large_intestine(1)	3						c.(577-579)GAT>CAT		mitofusin 1							143.0	134.0	137.0					3																	179082125		2203	4300	6503	SO:0001583	missense	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179082125G>C	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.577G>C	3.37:g.179082125G>C	ENSP00000420617:p.Asp193His					MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.D221H|MFN1_uc010hxc.2_Missense_Mutation_p.D46H	p.D193H	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		6	703	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		193			Cytoplasmic (Potential).		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	c.577G>C	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818957	0.71028	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000263969;ENST00000489329;ENST00000474903	D;D;D;D;D	0.96885	-4.16;-4.16;-4.16;-4.16;-4.16	5.13	5.13	0.70059	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.98286	0.9432	M	0.87038	2.855	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.984;0.984	D	0.98098	1.0413	10	0.38643	T	0.18	-20.882	18.9501	0.92638	0.0:0.0:1.0:0.0	.	193;221;193	Q8IWA4-3;Q4AEJ4;Q8IWA4	.;.;MFN1_HUMAN	H	193;193;193;193;46;56	ENSP00000420617:D193H;ENSP00000280653:D193H;ENSP00000263969:D193H;ENSP00000420148:D46H;ENSP00000419926:D56H	ENSP00000263969:D193H	D	+	1	0	MFN1	180564819	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.414000	0.97362	2.554000	0.86153	0.650000	0.86243	GAT		0.338	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2		NM_017927		5	57	0	0	0	0.001168	0	5	57		
KNG1	3827	broad.mit.edu	37	3	186459867	186459867	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:186459867C>T	ENST00000265023.4	+	10	1894	c.1682C>T	c.(1681-1683)tCt>tTt	p.S561F	KNG1_ENST00000287611.2_Intron|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000609726.1_RNA|RP11-573D15.8_ENST00000596329.1_RNA|RP11-573D15.8_ENST00000596632.1_RNA|RP11-573D15.8_ENST00000609652.1_RNA|RP11-573D15.8_ENST00000354642.2_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	561					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.S561F(1)		endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		GTTACCTTTTCTGACTTTCAG	0.473																																						uc011bsa.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(1681-1683)TCT>TTT		kininogen 1 isoform 1	Ouabain(DB01092)						124.0	118.0	120.0					3																	186459867		1994	4154	6148	SO:0001583	missense	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186459867C>T		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.1682C>T	3.37:g.186459867C>T	ENSP00000265023:p.Ser561Phe					KNG1_uc003fqr.2_Intron	p.S561F	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	10	1894	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		561					A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	37	c.1682C>T	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	C	3.019	-0.202214	0.06219	.	.	ENSG00000113889	ENST00000265023	T	0.19532	2.14	5.31	2.53	0.30540	.	0.670471	0.13182	N	0.407385	T	0.12817	0.0311	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.32981	-0.9886	9	.	.	.	-2.8488	4.7093	0.12865	0.1545:0.6139:0.1491:0.0824	.	561	P01042	KNG1_HUMAN	F	561	ENSP00000265023:S561F	.	S	+	2	0	KNG1	187942561	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	1.125000	0.31332	0.322000	0.23283	-0.878000	0.02970	TCT		0.473	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1		NM_001102416		8	103	0	0	0	0.00308	0	8	103		
MASP1	5648	broad.mit.edu	37	3	187003830	187003830	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:187003830T>C	ENST00000337774.5	-	2	409	c.20A>G	c.(19-21)tAt>tGt	p.Y7C	MASP1_ENST00000392472.2_Intron|MASP1_ENST00000169293.6_Missense_Mutation_p.Y7C|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392470.2_5'UTR|MASP1_ENST00000296280.6_Missense_Mutation_p.Y7C	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	7					complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.Y7C(3)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CAGAGCATAATAGAGAAGCAG	0.468																																						uc003frh.1		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	ovary(2)|breast(1)|liver(1)	4						c.(19-21)TAT>TGT		mannan-binding lectin serine protease 1 isoform							61.0	56.0	58.0					3																	187003830		2203	4300	6503	SO:0001583	missense	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:187003830T>C	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.20A>G	3.37:g.187003830T>C	ENSP00000336792:p.Tyr7Cys					MASP1_uc003fri.2_Missense_Mutation_p.Y7C|MASP1_uc003frj.2_Intron|MASP1_uc003frk.1_Missense_Mutation_p.Y7C|MASP1_uc011bse.1_5'UTR	p.Y7C	NM_001879	NP_001870	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	2	352	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		7					A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.20A>G	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	T	8.856	0.945770	0.18356	.	.	ENSG00000127241	ENST00000337774;ENST00000296280;ENST00000169293;ENST00000392475;ENST00000439271	D;D;T;T;T	0.84370	-1.84;-1.69;0.95;0.3;1.29	4.95	-9.91	0.00458	.	1.127780	0.06551	N	0.744925	T	0.69797	0.3151	N	0.16478	0.41	0.21933	N	0.999467	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.001	T	0.57717	-0.7763	10	0.46703	T	0.11	.	11.0823	0.48068	0.0914:0.7002:0.0981:0.1102	.	7;7;7	P48740-3;P48740-2;P48740	.;.;MASP1_HUMAN	C	7;7;7;14;33	ENSP00000336792:Y7C;ENSP00000296280:Y7C;ENSP00000169293:Y7C;ENSP00000376267:Y14C;ENSP00000412021:Y33C	ENSP00000169293:Y7C	Y	-	2	0	MASP1	188486524	0.001000	0.12720	0.010000	0.14722	0.963000	0.63663	-0.776000	0.04674	-2.171000	0.00775	0.383000	0.25322	TAT		0.468	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1		NM_001879		7	48	0	0	0	0.001984	0	7	48		
MFSD7	84179	broad.mit.edu	37	4	677066	677066	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:677066C>G	ENST00000404286.2	-	8	1102	c.1087G>C	c.(1087-1089)Gag>Cag	p.E363Q	MFSD7_ENST00000513740.1_5'Flank|MFSD7_ENST00000322224.4_Missense_Mutation_p.E362Q|MFSD7_ENST00000347950.5_Missense_Mutation_p.E244Q|MFSD7_ENST00000515118.1_Missense_Mutation_p.E266Q|MFSD7_ENST00000503156.1_Missense_Mutation_p.E298Q	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	363					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.E362Q(1)		cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						ACCGCCAACTCCATGGCCACG	0.667																																						uc003gay.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1087-1089)GAG>CAG		major facilitator superfamily domain containing							55.0	56.0	56.0					4																	677066		2203	4299	6502	SO:0001583	missense	84179				transmembrane transport	integral to membrane		g.chr4:677066C>G	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"""Solute carriers"""	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.1087G>C	4.37:g.677066C>G	ENSP00000384616:p.Glu363Gln					MFSD7_uc003gaw.2_Missense_Mutation_p.E105Q|MFSD7_uc003gax.2_Missense_Mutation_p.E362Q|MFSD7_uc003gaz.2_Missense_Mutation_p.E244Q|MFSD7_uc003gba.2_Missense_Mutation_p.E266Q|MFSD7_uc003gbb.1_Missense_Mutation_p.E298Q	p.E363Q	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN			8	1144	-			363					A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Missense_Mutation	SNP	ENST00000404286.2	37	c.1087G>C		.	.	.	.	.	.	.	.	.	.	C	15.76	2.928734	0.52759	.	.	ENSG00000169026	ENST00000347950;ENST00000322224;ENST00000404286;ENST00000515118;ENST00000503156;ENST00000512249	T;T;T;T;T;T	0.58652	0.32;0.4;0.4;0.32;0.4;0.32	4.52	3.67	0.42095	Major facilitator superfamily domain, general substrate transporter (1);	0.054539	0.64402	D	0.000001	T	0.75679	0.3882	M	0.86178	2.8	0.41585	D	0.988767	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.997;0.997;0.999;0.997	T	0.78150	-0.2316	10	0.52906	T	0.07	-32.4337	10.8942	0.47012	0.0:0.8103:0.1897:0.0	.	298;266;244;363;362	D6RIZ6;D6R9R0;Q6UXD7-3;Q6UXD7;Q6UXD7-2	.;.;.;MFSD7_HUMAN;.	Q	244;362;363;266;298;180	ENSP00000307545:E244Q;ENSP00000320234:E362Q;ENSP00000384616:E363Q;ENSP00000423204:E266Q;ENSP00000425753:E298Q;ENSP00000425038:E180Q	ENSP00000320234:E362Q	E	-	1	0	MFSD7	667066	1.000000	0.71417	0.999000	0.59377	0.030000	0.12068	4.667000	0.61561	1.257000	0.44085	0.558000	0.71614	GAG		0.667	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1		NM_032219		6	70	0	0	0	0.00308	0	6	70		
PPP2R2C	5522	broad.mit.edu	37	4	6325278	6325278	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:6325278G>T	ENST00000382599.4	-	9	1311	c.1095C>A	c.(1093-1095)ttC>ttA	p.F365L	PPP2R2C_ENST00000515571.1_Missense_Mutation_p.F348L|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.F358L|PPP2R2C_ENST00000335585.5_Missense_Mutation_p.F365L|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.F358L			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	365					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.F365L(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TGTTCCGATCGAACATGCGGA	0.622																																						uc003gjc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1093-1095)TTC>TTA		gamma isoform of regulatory subunit B55, protein							57.0	50.0	52.0					4																	6325278		2202	4300	6502	SO:0001583	missense	5522				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr4:6325278G>T	AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9306	protein-coding gene	gene with protein product	"""PP2A subunit B isoform gamma"""	605997	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"""			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.1095C>A	4.37:g.6325278G>T	ENSP00000372042:p.Phe365Leu					PPP2R2C_uc003gjb.2_Missense_Mutation_p.F348L|PPP2R2C_uc011bwd.1_Missense_Mutation_p.F358L|PPP2R2C_uc011bwe.1_Missense_Mutation_p.F358L|PPP2R2C_uc003gja.2_Missense_Mutation_p.F365L	p.F365L	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN			9	1465	-			365			WD 6.		A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Missense_Mutation	SNP	ENST00000382599.4	37	c.1095C>A		.	.	.	.	.	.	.	.	.	.	G	16.20	3.055529	0.55325	.	.	ENSG00000074211	ENST00000335585;ENST00000506140;ENST00000515571;ENST00000382599;ENST00000507294	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	4.45	-4.59	0.03400	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.42063	0.1186	M	0.91510	3.215	0.58432	D	0.999999	B;P;B;B	0.41214	0.068;0.742;0.068;0.441	B;B;B;B	0.43508	0.281;0.422;0.281;0.328	T	0.58668	-0.7596	10	0.66056	D	0.02	-18.9656	13.1054	0.59244	0.796:0.0:0.204:0.0	.	358;365;348;365	B7Z3Y1;Q9Y2T4;Q9Y2T4-3;Q9Y2T4-2	.;2ABG_HUMAN;.;.	L	365;358;348;365;358	ENSP00000335083:F365L;ENSP00000423649:F358L;ENSP00000422374:F348L;ENSP00000372042:F365L;ENSP00000425247:F358L	ENSP00000335083:F365L	F	-	3	2	PPP2R2C	6376179	0.978000	0.34361	0.958000	0.39756	0.930000	0.56654	0.165000	0.16564	-0.913000	0.03832	-0.266000	0.10368	TTC		0.622	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2		NM_181876		6	21	1	0	3.59834e-05	0.001168	3.85604e-05	6	21		
BOD1L1	259282	broad.mit.edu	37	4	13602053	13602053	+	Silent	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:13602053G>C	ENST00000040738.5	-	10	6606	c.6471C>G	c.(6469-6471)tcC>tcG	p.S2157S		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2157						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S2157S(1)									TTGTTGCACTGGAGATAGGCA	0.498																																						uc003gmz.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(5)|breast(1)	6						c.(6469-6471)TCC>TCG		biorientation of chromosomes in cell division							89.0	77.0	81.0					4																	13602053		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13602053G>C	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.6471C>G	4.37:g.13602053G>C						BOD1L_uc010idr.1_Silent_p.S1494S	p.S2157S	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	6588	-			2157					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.6471C>G	CCDS3411.2																																																																																				0.498	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1		NM_148894		21	47	0	0	0	0.012319	0	21	47		
AFP	174	broad.mit.edu	37	4	74320990	74320990	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:74320990G>T	ENST00000395792.2	+	14	1923	c.1823G>T	c.(1822-1824)gGa>gTa	p.G608V	AFP_ENST00000506820.1_3'UTR|AFP_ENST00000226359.2_Intron	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	608					ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)	p.G608V(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCTGCTTTGGGAGTTTAAATT	0.313									Alpha-Fetoprotein, Hereditary Persistence of																													uc003hgz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1822-1824)GGA>GTA		alpha-fetoprotein precursor							106.0	114.0	111.0					4																	74320990		2203	4298	6501	SO:0001583	missense	174	Alpha-Fetoprotein_Hereditary_Persistence_of	Familial Cancer Database	HPAFP	transport		metal ion binding	g.chr4:74320990G>T	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.1823G>T	4.37:g.74320990G>T	ENSP00000379138:p.Gly608Val					AFP_uc003hha.1_Intron|AFP_uc011cbg.1_Missense_Mutation_p.G382V	p.G608V	NM_001134	NP_001125	P02771	FETA_HUMAN	Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		14	1870	+	Breast(15;0.00102)		608					B2RBU3	Missense_Mutation	SNP	ENST00000395792.2	37	c.1823G>T	CCDS3556.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591646	0.66219	.	.	ENSG00000081051	ENST00000395792	T	0.64803	-0.12	5.26	4.41	0.53225	.	0.675631	0.13967	N	0.350447	T	0.66867	0.2833	L	0.54323	1.7	0.80722	D	1	D	0.54601	0.967	P	0.52823	0.71	T	0.67348	-0.5693	10	0.87932	D	0	.	9.9587	0.41682	0.0927:0.0:0.9073:0.0	.	608	P02771	FETA_HUMAN	V	608	ENSP00000379138:G608V	ENSP00000379138:G608V	G	+	2	0	AFP	74539854	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.458000	0.21892	1.402000	0.46780	0.655000	0.94253	GGA		0.313	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3				27	57	1	0	1.75199e-13	0.007291	2.07567e-13	27	57		
COPS4	51138	broad.mit.edu	37	4	83989596	83989596	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:83989596A>T	ENST00000264389.2	+	9	1143	c.1008A>T	c.(1006-1008)gaA>gaT	p.E336D	COPS4_ENST00000509093.1_Intron|COPS4_ENST00000511653.1_Missense_Mutation_p.E336D|COPS4_ENST00000503682.1_Missense_Mutation_p.E368D	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	336	PCI.				cullin deneddylation (GO:0010388)|protein deneddylation (GO:0000338)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)		p.E336D(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				AATAGGCGGAAAAGATAGCAT	0.328																																						uc003hoa.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(1)	1						c.(1006-1008)GAA>GAT		COP9 signalosome subunit 4							104.0	105.0	104.0					4																	83989596		2203	4298	6501	SO:0001583	missense	51138				cullin deneddylation	cytoplasm|signalosome	protein binding	g.chr4:83989596A>T	AF100757	CCDS3600.1, CCDS58909.1	4q21.22	2013-03-14	2013-03-14		ENSG00000138663	ENSG00000138663			16702	protein-coding gene	gene with protein product			"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4"", ""COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)"""			9707402	Standard	NM_016129		Approved	CSN4	uc003hoa.3	Q9BT78	OTTHUMG00000130298	ENST00000264389.2:c.1008A>T	4.37:g.83989596A>T	ENSP00000264389:p.Glu336Asp					COPS4_uc003hob.2_Missense_Mutation_p.E336D|COPS4_uc010ijw.2_Missense_Mutation_p.E368D|COPS4_uc010ijx.2_Intron	p.E336D	NM_016129	NP_057213	Q9BT78	CSN4_HUMAN			9	1147	+		Hepatocellular(203;0.114)	336			PCI.		B3KN88|B3KST5|Q561W7|Q9NW31|Q9Y677	Missense_Mutation	SNP	ENST00000264389.2	37	c.1008A>T	CCDS3600.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.061266	0.76187	.	.	ENSG00000138663	ENST00000264389;ENST00000509317;ENST00000503682;ENST00000511653	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.83	3.48	0.39840	Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);	0.000000	0.85682	D	0.000000	T	0.73567	0.3603	H	0.94658	3.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.993;0.998;1.0	T	0.79162	-0.1917	10	0.87932	D	0	-19.1041	9.6119	0.39668	0.833:0.0:0.167:0.0	.	368;336;336	D6RFN0;D6RAX7;Q9BT78	.;.;CSN4_HUMAN	D	336;224;368;336	ENSP00000264389:E336D;ENSP00000425486:E224D;ENSP00000424791:E368D;ENSP00000424655:E336D	ENSP00000264389:E336D	E	+	3	2	COPS4	84208620	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	1.353000	0.34045	2.222000	0.72286	0.477000	0.44152	GAA		0.328	COPS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252643.1				13	52	0	0	0	0.00245	0	13	52		
AFF1	4299	broad.mit.edu	37	4	88036209	88036209	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:88036209C>G	ENST00000307808.6	+	11	2623	c.2203C>G	c.(2203-2205)Cgc>Ggc	p.R735G	AFF1_ENST00000544085.1_Missense_Mutation_p.R373G|AFF1_ENST00000395146.4_Missense_Mutation_p.R742G	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	735					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R742G(1)		breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GGAGGACAGCCGCAAAGACAG	0.607																																						uc003hqj.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(2203-2205)CGC>GGC		myeloid/lymphoid or mixed-lineage leukemia							68.0	64.0	65.0					4																	88036209		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88036209C>G	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.2203C>G	4.37:g.88036209C>G	ENSP00000305689:p.Arg735Gly					AFF1_uc011ccz.1_Missense_Mutation_p.R742G|AFF1_uc003hqk.3_Missense_Mutation_p.R735G|AFF1_uc011cda.1_Missense_Mutation_p.R373G	p.R735G	NM_005935	NP_005926	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	11	2610	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	735					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.2203C>G	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.542147	0.27563	.	.	ENSG00000172493	ENST00000395146;ENST00000541943;ENST00000307808;ENST00000544085	T;T;T	0.63580	-0.05;-0.05;-0.05	5.53	-4.81	0.03180	.	1.962480	0.02177	N	0.060163	T	0.49287	0.1548	L	0.51422	1.61	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.10450	0.005;0.005;0.005	T	0.11179	-1.0598	10	0.21014	T	0.42	0.0044	2.8302	0.05497	0.1637:0.3553:0.3015:0.1795	.	742;735;735	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	G	742;394;735;373	ENSP00000378578:R742G;ENSP00000305689:R735G;ENSP00000440843:R373G	ENSP00000305689:R735G	R	+	1	0	AFF1	88255233	0.000000	0.05858	0.000000	0.03702	0.981000	0.71138	0.101000	0.15251	-0.923000	0.03785	0.491000	0.48974	CGC		0.607	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3		NM_005935		10	22	0	0	0	0.00245	0	10	22		
TACR3	6870	broad.mit.edu	37	4	104510983	104510983	+	Silent	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:104510983T>C	ENST00000304883.2	-	5	1394	c.1254A>G	c.(1252-1254)gcA>gcG	p.A418A	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	418					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)	p.A418A(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TGGTGGTGTCTGCATCGTTGG	0.517																																						uc003hxe.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|lung(2)|breast(1)|skin(1)	7						c.(1252-1254)GCA>GCG		tachykinin receptor 3							259.0	238.0	245.0					4																	104510983		2203	4300	6503	SO:0001819	synonymous_variant	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104510983T>C	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1254A>G	4.37:g.104510983T>C							p.A418A	NM_001059	NP_001050	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	5	1397	-		Hepatocellular(203;0.217)	418			Cytoplasmic (Potential).		Q0P510	Silent	SNP	ENST00000304883.2	37	c.1254A>G	CCDS3664.1																																																																																				0.517	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1		NM_001059		13	168	0	0	0	0.001855	0	13	168		
COL25A1	84570	broad.mit.edu	37	4	109740467	109740467	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:109740467C>T	ENST00000399132.1	-	36	2394	c.1864G>A	c.(1864-1866)Ggg>Agg	p.G622R		NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1									p.G622R(1)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCTTTTTCCCCCTTAACGCCA	0.463																																						uc003hze.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1864-1866)GGG>AGG		collagen, type XXV, alpha 1 isoform 1							74.0	76.0	76.0					4																	109740467		1887	4105	5992	SO:0001583	missense	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109740467C>T	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1864G>A	4.37:g.109740467C>T	ENSP00000382083:p.Gly622Arg					COL25A1_uc003hzd.2_Intron	p.G622R	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	35	2395	-		Hepatocellular(203;0.217)	622			Extracellular (Potential).|Collagen-like 7.			Missense_Mutation	SNP	ENST00000399132.1	37	c.1864G>A	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706412	0.68615	.	.	ENSG00000188517	ENST00000399132;ENST00000333642	D	0.99637	-6.29	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.99768	0.9905	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97355	0.9966	9	.	.	.	-4.7399	19.5947	0.95530	0.0:1.0:0.0:0.0	.	622	Q9BXS0	COPA1_HUMAN	R	622;624	ENSP00000382083:G622R	.	G	-	1	0	COL25A1	109959916	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.636000	0.89361	0.460000	0.39030	GGG		0.463	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2		NM_032518		3	26	0	0	0	0.009096	0	3	26		
KIAA0922	23240	broad.mit.edu	37	4	154502664	154502664	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:154502664G>A	ENST00000409663.3	+	9	896	c.844G>A	c.(844-846)Gat>Aat	p.D282N	KIAA0922_ENST00000409959.3_Missense_Mutation_p.D282N|KIAA0922_ENST00000440693.1_Missense_Mutation_p.D282N	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	282						integral component of membrane (GO:0016021)		p.D282N(1)|p.D134N(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				ACATTTGTTAGATCATCTCTC	0.318																																						uc003inm.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(844-846)GAT>AAT		hypothetical protein LOC23240 isoform 2							118.0	115.0	116.0					4																	154502664		2203	4299	6502	SO:0001583	missense	23240					integral to membrane		g.chr4:154502664G>A	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.844G>A	4.37:g.154502664G>A	ENSP00000386574:p.Asp282Asn					KIAA0922_uc010ipp.2_Missense_Mutation_p.D282N|KIAA0922_uc010ipq.2_Missense_Mutation_p.D134N	p.D282N	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN			9	896	+	all_hematologic(180;0.093)	Renal(120;0.118)	282			Extracellular (Potential).		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.844G>A	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	G	25.8	4.670919	0.88348	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.20200	2.33;2.09;2.32;2.09	5.86	5.86	0.93980	.	0.055449	0.64402	D	0.000001	T	0.33760	0.0874	L	0.29908	0.895	0.28550	N	0.911673	D;D;D	0.76494	0.999;0.991;0.985	D;P;P	0.63283	0.913;0.849;0.711	T	0.04495	-1.0947	10	0.37606	T	0.19	-32.1416	18.7433	0.91782	0.0:0.0:1.0:0.0	.	282;282;282	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	N	282;282;282;143	ENSP00000386574:D282N;ENSP00000409663:D282N;ENSP00000386787:D282N;ENSP00000240487:D143N	ENSP00000240487:D143N	D	+	1	0	KIAA0922	154722114	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.235000	0.72332	2.937000	0.99478	0.650000	0.86243	GAT		0.318	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1		NM_015196		20	28	0	0	0	0.008871	0	20	28		
FGA	2243	broad.mit.edu	37	4	155505643	155505644	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:155505643_155505644CC>AA	ENST00000302053.3	-	6	2311_2312	c.2233_2234GG>TT	c.(2233-2235)GGc>TTc	p.G745F		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	745	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|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)	structural molecule activity (GO:0005198)	p.G745>?(1)|p.G745V(1)|p.G745C(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGCCTCAGAGCCTACCCGGAAG	0.525																																					NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1		NaN																	3	Substitution - Missense(2)|Complex(1)		urinary_tract(3)	ovary(2)|breast(1)	3						c.(2233-2235)GGC>TTC		fibrinogen, alpha polypeptide isoform alpha-E	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)																																			SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155505643_155505644CC>AA		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.2233_2234delinsAA	4.37:g.155505643_155505644delinsAA	ENSP00000306361:p.Gly745Phe						p.G745F	NM_000508	NP_000499	P02671	FIBA_HUMAN			6	2291_2292	-	all_hematologic(180;0.215)	Renal(120;0.0458)	745			Fibrinogen C-terminal.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	DNP	ENST00000302053.3	37	c.2233_2234GG>TT	CCDS3787.1																																																																																				0.525	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1		NM_000508		14	44	0	0	0	0.004672	0	14	44		
WWC2	80014	broad.mit.edu	37	4	184129307	184129307	+	Missense_Mutation	SNP	G	G	C	rs371427109		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:184129307G>C	ENST00000403733.3	+	3	642	c.443G>C	c.(442-444)aGc>aCc	p.S148T	WWC2_ENST00000378925.3_Missense_Mutation_p.S50T|WWC2_ENST00000448232.2_Missense_Mutation_p.S148T|WWC2_ENST00000504005.1_5'Flank|WWC2_ENST00000513834.1_Missense_Mutation_p.S148T	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	148					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)	p.S148T(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TCTCACACAAGCTGTAAGTAC	0.423																																						uc010irx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(1)	3						c.(442-444)AGC>ACC		WW and C2 domain containing 2							47.0	50.0	49.0					4																	184129307		2044	4189	6233	SO:0001583	missense	80014							g.chr4:184129307G>C	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.443G>C	4.37:g.184129307G>C	ENSP00000384222:p.Ser148Thr					WWC2_uc003ivk.3_5'UTR|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_5'Flank	p.S148T	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	3	625	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	148			Potential.		Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	ENST00000403733.3	37	c.443G>C	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446232	0.84101	.	.	ENSG00000151718	ENST00000403733;ENST00000378925;ENST00000513834;ENST00000448232	T;T;T;T	0.23754	2.79;1.89;2.89;2.65	5.27	5.27	0.74061	.	.	.	.	.	T	0.56124	0.1964	M	0.83223	2.63	0.58432	D	0.999999	D	0.69078	0.997	D	0.75020	0.985	T	0.58572	-0.7613	9	0.52906	T	0.07	-13.0214	19.0893	0.93219	0.0:0.0:1.0:0.0	.	148	Q6AWC2	WWC2_HUMAN	T	148;50;148;148	ENSP00000384222:S148T;ENSP00000368205:S50T;ENSP00000425054:S148T;ENSP00000398577:S148T	ENSP00000368205:S50T	S	+	2	0	WWC2	184366301	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	9.601000	0.98297	2.748000	0.94277	0.655000	0.94253	AGC		0.423	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1		NM_024949		4	13	0	0	0	0.009096	0	4	13		
FRG1	2483	broad.mit.edu	37	4	190862215	190862215	+	Silent	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:190862215C>A	ENST00000226798.4	+	1	273	c.51C>A	c.(49-51)acC>acA	p.T17T	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	17	Lys-rich.				mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.T17T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TCAAGGGAACCAAGACGAAGA	0.632											OREG0016457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003izs.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(49-51)ACC>ACA		FSHD region gene 1							38.0	39.0	39.0					4																	190862215		2203	4300	6503	SO:0001819	synonymous_variant	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190862215C>A	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.51C>A	4.37:g.190862215C>A			OREG0016457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2041	uc003izq.2_5'Flank	p.T17T	NM_004477	NP_004468	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	1	242	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	17			Lys-rich.		A8K775	Silent	SNP	ENST00000226798.4	37	c.51C>A	CCDS34121.1																																																																																				0.632	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4		NM_004477		4	15	1	0	0.00909568	0.009096	0.00939809	4	15		
ZNF622	90441	broad.mit.edu	37	5	16465637	16465637	+	Silent	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:16465637G>T	ENST00000308683.2	-	1	264	c.138C>A	c.(136-138)ggC>ggA	p.G46G		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	46					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G46G(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GCTCCTGGAAGCCCTCGGCGG	0.662																																						uc003jfq.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(136-138)GGC>GGA		zinc finger protein 622							43.0	43.0	43.0					5																	16465637		2202	4299	6501	SO:0001819	synonymous_variant	90441					cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr5:16465637G>T	AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.138C>A	5.37:g.16465637G>T							p.G46G	NM_033414	NP_219482	Q969S3	ZN622_HUMAN			1	258	-			46						Silent	SNP	ENST00000308683.2	37	c.138C>A	CCDS3886.1																																																																																				0.662	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1		NM_033414		5	169	1	0	5.9392e-07	0.001168	6.62828e-07	5	169		
RAI14	26064	broad.mit.edu	37	5	34823943	34823943	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:34823943A>C	ENST00000265109.3	+	15	2283	c.1996A>C	c.(1996-1998)Aaa>Caa	p.K666Q	RAI14_ENST00000503673.1_Missense_Mutation_p.K666Q|RAI14_ENST00000515799.1_Missense_Mutation_p.K669Q|RAI14_ENST00000397449.1_Missense_Mutation_p.K659Q|RAI14_ENST00000506376.1_Missense_Mutation_p.K658Q|RAI14_ENST00000428746.2_Missense_Mutation_p.K666Q|RAI14_ENST00000512629.1_Missense_Mutation_p.K637Q	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	666						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.K666Q(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)					CAGGAAGAGGAAATCTCTAGA	0.448																																						uc003jir.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1996-1998)AAA>CAA		retinoic acid induced 14 isoform a							76.0	80.0	79.0					5																	34823943		2203	4300	6503	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34823943A>C	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.1996A>C	5.37:g.34823943A>C	ENSP00000265109:p.Lys666Gln					RAI14_uc010iur.2_Missense_Mutation_p.K637Q|RAI14_uc011coj.1_Missense_Mutation_p.K666Q|RAI14_uc003jis.2_Missense_Mutation_p.K669Q|RAI14_uc003jit.2_Missense_Mutation_p.K666Q|RAI14_uc011cok.1_Missense_Mutation_p.K658Q	p.K666Q	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN			15	2192	+	all_lung(31;0.000191)		666			Potential.		E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.1996A>C	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	A	16.79	3.220438	0.58560	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.35789	1.35;1.29;1.35;1.35;1.35;1.4;1.39	5.68	5.68	0.88126	.	.	.	.	.	T	0.41096	0.1144	L	0.29908	0.895	0.36808	D	0.885733	D;D;D;D	0.71674	0.996;0.998;0.994;0.998	P;P;P;P	0.62298	0.9;0.796;0.868;0.796	T	0.41088	-0.9528	9	0.25106	T	0.35	-22.9539	10.3028	0.43663	0.9267:0.0:0.0733:0.0	.	658;637;669;666	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	Q	666;637;666;666;669;658;659	ENSP00000265109:K666Q;ENSP00000422377:K637Q;ENSP00000388725:K666Q;ENSP00000422942:K666Q;ENSP00000427123:K669Q;ENSP00000423854:K658Q;ENSP00000380591:K659Q	ENSP00000265109:K666Q	K	+	1	0	RAI14	34859700	1.000000	0.71417	0.998000	0.56505	0.768000	0.43524	4.230000	0.58632	2.167000	0.68274	0.454000	0.30748	AAA		0.448	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1		NM_015577		8	80	0	0	0	0.00308	0	8	80		
HCN1	348980	broad.mit.edu	37	5	45303809	45303809	+	Nonsense_Mutation	SNP	G	G	A	rs35229491		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:45303809G>A	ENST00000303230.4	-	6	1567	c.1510C>T	c.(1510-1512)Cga>Tga	p.R504*		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	504					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R504*(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCTCCTTCTCGTATGATATAA	0.403																																						uc003jok.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)	1						c.(1510-1512)CGA>TGA		hyperpolarization activated cyclic							112.0	112.0	112.0					5																	45303809		2203	4300	6503	SO:0001587	stop_gained	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45303809G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1510C>T	5.37:g.45303809G>A	ENSP00000307342:p.Arg504*						p.R504*	NM_021072	NP_066550	O60741	HCN1_HUMAN			6	1535	-			504			cAMP.|Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000303230.4	37	c.1510C>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	38	6.957446	0.97964	.	.	ENSG00000164588	ENST00000303230	.	.	.	5.62	4.73	0.59995	.	0.000000	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0052	0.80357	0.0:0.0:0.8643:0.1357	rs35229491	.	.	.	X	504	.	ENSP00000307342:R504X	R	-	1	2	HCN1	45339566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.734000	0.55037	1.467000	0.48044	0.655000	0.94253	CGA		0.403	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1		NM_021072		50	152	0	0	0	0.01441	0	50	152		
ADAMTS6	11174	broad.mit.edu	37	5	64748566	64748566	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:64748566T>G	ENST00000536360.1	-	5	1624	c.811A>C	c.(811-813)Att>Ctt	p.I271L				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	271	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.I271L(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TAATGTTCAATGTCTTTGCGG	0.368																																						uc003jtp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(811-813)ATT>CTT		ADAM metallopeptidase with thrombospondin type 1							155.0	140.0	145.0					5																	64748566		2203	4300	6503	SO:0001583	missense	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64748566T>G	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.811A>C	5.37:g.64748566T>G	ENSP00000440995:p.Ile271Leu					ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_5'UTR	p.I271L	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	5	1625	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	271			Peptidase M12B.		Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	ENST00000536360.1	37	c.811A>C		.	.	.	.	.	.	.	.	.	.	T	16.69	3.192236	0.58017	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680;ENST00000536360	T;T;T	0.66638	-0.22;-0.22;-0.22	5.38	5.38	0.77491	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	N	0.11427	0.14	0.80722	D	1	B	0.25048	0.117	B	0.31016	0.123	T	0.44847	-0.9301	10	0.06236	T	0.91	.	15.3911	0.74744	0.0:0.0:0.0:1.0	.	271	Q9UKP5	ATS6_HUMAN	L	271	ENSP00000370443:I271L;ENSP00000423551:I271L;ENSP00000440995:I271L	ENSP00000261306:I271L	I	-	1	0	ADAMTS6	64784322	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.036000	0.88901	2.024000	0.59613	0.460000	0.39030	ATT		0.368	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding			NM_197941		33	28	0	0	0	0.005524	0	33	28		
MCCC2	64087	broad.mit.edu	37	5	70930791	70930791	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:70930791C>A	ENST00000340941.6	+	9	954	c.825C>A	c.(823-825)caC>caA	p.H275Q	MCCC2_ENST00000323375.8_Missense_Mutation_p.H237Q|MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000509358.2_Missense_Mutation_p.H275Q	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	275	Carboxyltransferase.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|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 matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)	p.H275Q(1)		endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	TAAGTGACCACTGGGCTTTGG	0.368																																						uc003kbs.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(823-825)CAC>CAA		methylcrotonoyl-Coenzyme A carboxylase 2 (beta)	Biotin(DB00121)						111.0	107.0	109.0					5																	70930791		2203	4300	6503	SO:0001583	missense	64087				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity	g.chr5:70930791C>A	AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"""methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"""				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.825C>A	5.37:g.70930791C>A	ENSP00000343657:p.His275Gln					MCCC2_uc010iyv.1_Missense_Mutation_p.H275Q|MCCC2_uc003kbt.3_RNA|MCCC2_uc003kbu.1_Missense_Mutation_p.H144Q	p.H275Q	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	9	963	+		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)	275			Carboxyltransferase.		A6NIY9|Q96C27|Q9Y4L7	Missense_Mutation	SNP	ENST00000340941.6	37	c.825C>A	CCDS34184.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.421947	0.43020	.	.	ENSG00000131844	ENST00000340941;ENST00000509358;ENST00000323375;ENST00000509539	D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4	5.65	5.65	0.86999	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.144593	0.64402	D	0.000007	D	0.98077	0.9366	M	0.83953	2.67	0.58432	D	0.999999	D;D;D	0.67145	0.996;0.991;0.98	D;D;D	0.76575	0.929;0.988;0.981	D	0.98126	1.0428	10	0.87932	D	0	-7.3144	8.7615	0.34678	0.0:0.8396:0.0:0.1604	.	275;144;275	D6RDF7;B3KR24;Q9HCC0	.;.;MCCB_HUMAN	Q	275;275;237;50	ENSP00000343657:H275Q;ENSP00000420994:H275Q;ENSP00000327308:H237Q;ENSP00000425474:H50Q	ENSP00000327308:H237Q	H	+	3	2	MCCC2	70966547	1.000000	0.71417	1.000000	0.80357	0.176000	0.22953	1.500000	0.35682	2.663000	0.90544	0.563000	0.77884	CAC		0.368	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4				36	28	1	0	9.45814e-24	0.004878	1.16853e-23	36	28		
ARRDC3	57561	broad.mit.edu	37	5	90669643	90669643	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:90669643T>C	ENST00000265138.3	-	7	1312	c.1046A>G	c.(1045-1047)tAt>tGt	p.Y349C	ARRDC3_ENST00000503192.1_5'Flank	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	349					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)	p.Y349C(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		CACTTCTGCATAGCTGGGTGG	0.428																																						uc003kjz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(1045-1047)TAT>TGT		arrestin domain containing 3							163.0	139.0	147.0					5																	90669643		2203	4300	6503	SO:0001583	missense	57561				signal transduction	cytoplasm	protein binding	g.chr5:90669643T>C	AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"""alpha-arrestin 3"""	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.1046A>G	5.37:g.90669643T>C	ENSP00000265138:p.Tyr349Cys						p.Y349C	NM_020801	NP_065852	Q96B67	ARRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)	7	1286	-		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)	349					A8K6T8|Q9P2H1	Missense_Mutation	SNP	ENST00000265138.3	37	c.1046A>G	CCDS34202.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.309745	0.81247	.	.	ENSG00000113369	ENST00000265138	T	0.13657	2.57	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.39306	0.1073	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.19877	-1.0292	10	0.72032	D	0.01	-39.546	16.2644	0.82568	0.0:0.0:0.0:1.0	.	349	Q96B67	ARRD3_HUMAN	C	349	ENSP00000265138:Y349C	ENSP00000265138:Y349C	Y	-	2	0	ARRDC3	90705399	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.023000	0.88764	2.244000	0.73946	0.528000	0.53228	TAT		0.428	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369763.2		NM_020801		38	26	0	0	0	0.004289	0	38	26		
SLC12A2	6558	broad.mit.edu	37	5	127471428	127471428	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:127471428A>T	ENST00000262461.2	+	7	1525	c.1336A>T	c.(1336-1338)Att>Ttt	p.I446F	SLC12A2_ENST00000343225.4_Missense_Mutation_p.I446F	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	446					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)	p.I446F(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	ACTTCTTGCTATTGGTGATTT	0.303																																						uc003kus.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(1336-1338)ATT>TTT		solute carrier family 12	Bumetanide(DB00887)|Potassium Chloride(DB00761)						130.0	131.0	130.0					5																	127471428		2203	4300	6503	SO:0001583	missense	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127471428A>T		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.1336A>T	5.37:g.127471428A>T	ENSP00000262461:p.Ile446Phe					SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.I446F	p.I446F	NM_001046	NP_001037	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	7	1500	+		all_cancers(142;0.0972)|Prostate(80;0.151)	446			Helical; (Potential).		Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	c.1336A>T	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.172072	0.78452	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.99023	-5.34;-5.34	5.64	5.64	0.86602	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99020	0.9665	M	0.79693	2.465	0.80722	D	1	P;P	0.49635	0.909;0.926	P;P	0.59424	0.777;0.857	D	0.99939	1.1387	10	0.21540	T	0.41	.	16.0238	0.80522	1.0:0.0:0.0:0.0	.	446;446	P55011-3;P55011	.;S12A2_HUMAN	F	446	ENSP00000262461:I446F;ENSP00000340878:I446F	ENSP00000262461:I446F	I	+	1	0	SLC12A2	127499327	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.109000	0.94291	2.367000	0.80283	0.528000	0.53228	ATT		0.303	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1		NM_001046		3	55	0	0	0	0.000602	0	3	55		
ETF1	2107	broad.mit.edu	37	5	137849377	137849377	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:137849377A>C	ENST00000360541.5	-	5	642	c.421T>G	c.(421-423)Tca>Gca	p.S141A	ETF1_ENST00000499810.2_Missense_Mutation_p.S108A|ETF1_ENST00000503014.1_Missense_Mutation_p.S127A	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	141					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)	p.S141A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTATCATCTGAAAGTAGTGCT	0.403																																						uc003ldc.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(421-423)TCA>GCA		eukaryotic translation termination factor 1							98.0	87.0	91.0					5																	137849377		2203	4300	6503	SO:0001583	missense	2107				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific	g.chr5:137849377A>C	AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"""sup45 (yeast omnipotent suppressor 45) homolog-like 1"", ""polypeptide chain release factor 1"""	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.421T>G	5.37:g.137849377A>C	ENSP00000353741:p.Ser141Ala					ETF1_uc011cyv.1_Missense_Mutation_p.S127A|ETF1_uc010jex.2_RNA|ETF1_uc003ldd.3_Missense_Mutation_p.S108A|ETF1_uc010jey.1_5'UTR	p.S141A	NM_004730	NP_004721	P62495	ERF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		5	586	-			141					B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Missense_Mutation	SNP	ENST00000360541.5	37	c.421T>G	CCDS4207.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.721117	0.30503	.	.	ENSG00000120705	ENST00000499810;ENST00000360541;ENST00000503014;ENST00000507939	.	.	.	5.56	5.56	0.83823	Peptide Chain Release Factor eRF1/aRF1, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.22003	0.0530	N	0.00436	-1.5	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.15983	-1.0418	9	0.30078	T	0.28	-4.3066	15.3806	0.74651	1.0:0.0:0.0:0.0	.	127;141	B7Z7P8;P62495	.;ERF1_HUMAN	A	108;141;127;108	.	ENSP00000353741:S141A	S	-	1	0	ETF1	137877276	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	9.292000	0.96076	2.120000	0.65058	0.454000	0.30748	TCA		0.403	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251276.2		NM_004730		22	19	0	0	0	0.00333	0	22	19		
PCDHB5	26167	broad.mit.edu	37	5	140517289	140517289	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:140517289C>G	ENST00000231134.5	+	1	2490	c.2273C>G	c.(2272-2274)tCa>tGa	p.S758*		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	758					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S758*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCGGAGACTCAGGGGCCGGC	0.592																																						uc003liq.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	skin(3)|ovary(2)	5						c.(2272-2274)TCA>TGA		protocadherin beta 5 precursor							109.0	131.0	123.0					5																	140517289		2201	4300	6501	SO:0001587	stop_gained	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140517289C>G	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.2273C>G	5.37:g.140517289C>G	ENSP00000231134:p.Ser758*						p.S758*	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2490	+			758			Cytoplasmic (Potential).		Q549F4|Q9UFU9	Nonsense_Mutation	SNP	ENST00000231134.5	37	c.2273C>G	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	C	37	6.251911	0.97412	.	.	ENSG00000113209	ENST00000231134	.	.	.	4.38	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.50171	D	0.999851	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.349	0.87317	0.0:1.0:0.0:0.0	.	.	.	.	X	758	.	ENSP00000231134:S758X	S	+	2	0	PCDHB5	140497473	0.146000	0.22672	0.003000	0.11579	0.001000	0.01503	4.183000	0.58317	2.164000	0.68074	0.505000	0.49811	TCA		0.592	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1		NM_015669		24	108	0	0	0	0.00278	0	24	108		
PCDHGB3	56102	broad.mit.edu	37	5	140751625	140751625	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:140751625G>A	ENST00000576222.1	+	1	1795	c.1664G>A	c.(1663-1665)cGc>cAc	p.R555H	PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	555	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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGACGACCGCAACGACAAT	0.667																																						uc003ljw.1		NaN																	0					0						c.(1663-1665)CGC>CAC		protocadherin gamma subfamily B, 3 isoform 1							36.0	46.0	43.0					5																	140751625		2191	4294	6485	SO:0001583	missense	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140751625G>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1664G>A	5.37:g.140751625G>A	ENSP00000461862:p.Arg555His					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.R555H|PCDHGA6_uc011dau.1_5'Flank	p.R555H	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1664	+			555			Extracellular (Potential).|Cadherin 5.		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.1664G>A	CCDS58980.1																																																																																				0.667	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1		NM_018924		3	30	0	0	0	0.009096	0	3	30		
FBXW11	23291	broad.mit.edu	37	5	171318553	171318553	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:171318553C>T	ENST00000265094.5	-	6	844	c.707G>A	c.(706-708)cGc>cAc	p.R236H	FBXW11_ENST00000393802.2_Missense_Mutation_p.R202H|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000296933.6_Missense_Mutation_p.R223H|FBXW11_ENST00000425623.2_Missense_Mutation_p.R204H	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	236					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.R223H(1)|p.R236H(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATTTTCAGAGCGGCACTGAAT	0.378																																						uc003mbm.1		NaN																	2	Substitution - Missense(2)	p.N260_I262(1)|p.R236C(1)	urinary_tract(2)	ovary(1)|breast(1)	2						c.(706-708)CGC>CAC		F-box and WD repeat domain containing 11 isoform							81.0	76.0	78.0					5																	171318553		2203	4300	6503	SO:0001583	missense	23291				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:171318553C>T	AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13607	protein-coding gene	gene with protein product		605651	"""F-box and WD-40 domain protein 1B"", ""F-box and WD-40 domain protein 11"""	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.707G>A	5.37:g.171318553C>T	ENSP00000265094:p.Arg236His					FBXW11_uc011dey.1_Missense_Mutation_p.R204H|FBXW11_uc003mbl.1_Missense_Mutation_p.R223H|FBXW11_uc003mbn.1_Missense_Mutation_p.R202H	p.R236H	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		6	1078	-	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	236					B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Missense_Mutation	SNP	ENST00000265094.5	37	c.707G>A	CCDS34289.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.520826	0.44866	.	.	ENSG00000072803	ENST00000296933;ENST00000265094;ENST00000393802;ENST00000425623	T;T;T;T	0.35789	1.29;2.24;1.29;1.29	4.96	4.96	0.65561	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.26268	0.0641	N	0.12961	0.28	0.80722	D	1	B;B;B;B	0.20887	0.007;0.022;0.049;0.017	B;B;B;B	0.17098	0.003;0.004;0.017;0.006	T	0.05131	-1.0904	10	0.46703	T	0.11	-9.2791	18.1574	0.89696	0.0:1.0:0.0:0.0	.	204;202;236;223	B4DH70;Q9UKB1-2;Q9UKB1;Q9UKB1-3	.;.;FBW1B_HUMAN;.	H	223;236;202;204	ENSP00000296933:R223H;ENSP00000265094:R236H;ENSP00000377391:R202H;ENSP00000444929:R204H	ENSP00000265094:R236H	R	-	2	0	FBXW11	171251158	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.668000	0.83897	2.465000	0.83290	0.591000	0.81541	CGC		0.378	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1		NM_012300		5	44	0	0	0	0.000602	0	5	44		
FGFR4	2264	broad.mit.edu	37	5	176518005	176518005	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:176518005T>A	ENST00000292408.4	+	5	748	c.503T>A	c.(502-504)gTc>gAc	p.V168D	FGFR4_ENST00000292410.3_Missense_Mutation_p.V168D|FGFR4_ENST00000393648.2_Missense_Mutation_p.V168D|FGFR4_ENST00000502906.1_Missense_Mutation_p.V168D|FGFR4_ENST00000393637.1_Missense_Mutation_p.V168D	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	168	Ig-like C2-type 2.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)	p.V168D(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	GGGAACACCGTCAAGTTCCGC	0.612										TSP Lung(9;0.080)																												uc003mfl.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16						c.(502-504)GTC>GAC		fibroblast growth factor receptor 4 isoform 1	Palifermin(DB00039)						95.0	76.0	82.0					5																	176518005		2203	4300	6503	SO:0001583	missense	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176518005T>A	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.503T>A	5.37:g.176518005T>A	ENSP00000292408:p.Val168Asp	TSP Lung(9;0.080)				FGFR4_uc003mfm.2_Missense_Mutation_p.V168D|FGFR4_uc011dfu.1_Missense_Mutation_p.V168D|FGFR4_uc011dfv.1_RNA|FGFR4_uc003mfn.1_3'UTR|FGFR4_uc011dfw.1_Missense_Mutation_p.V168D|FGFR4_uc003mfo.2_Missense_Mutation_p.V168D	p.V168D	NM_002011	NP_002002	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	670	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	168			Extracellular (Potential).|Ig-like C2-type 2.		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	c.503T>A	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.424869	0.83667	.	.	ENSG00000160867	ENST00000292408;ENST00000503708;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	T;T;T;T;T;T	0.71103	1.2;-0.54;1.2;1.2;1.2;1.2	4.74	4.74	0.60224	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.122935	0.53938	D	0.000046	D	0.88869	0.6554	H	0.96720	3.87	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.988;0.997	D;D;P;D	0.79784	0.986;0.993;0.885;0.925	D	0.92424	0.5948	10	0.87932	D	0	.	14.0727	0.64870	0.0:0.0:0.0:1.0	.	168;168;168;168	B5A965;B4DVP5;P22455-2;P22455	.;.;.;FGFR4_HUMAN	D	168;168;168;168;168;168;280	ENSP00000292408:V168D;ENSP00000424905:V168D;ENSP00000377259:V168D;ENSP00000424960:V168D;ENSP00000292410:V168D;ENSP00000377254:V168D	ENSP00000292408:V168D	V	+	2	0	FGFR4	176450611	1.000000	0.71417	0.804000	0.32291	0.776000	0.43924	7.825000	0.86693	1.999000	0.58509	0.459000	0.35465	GTC		0.612	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1				14	11	0	0	0	0.00245	0	14	11		
ZNF354C	30832	broad.mit.edu	37	5	178503483	178503483	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:178503483G>A	ENST00000315475.6	+	3	371	c.65G>A	c.(64-66)aGc>aAc	p.S22N		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	22	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S22N(1)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		GTGTTCTTCAGCCAGGACGAG	0.542																																						uc003mju.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(64-66)AGC>AAC		zinc finger protein 354C							170.0	150.0	157.0					5																	178503483		2203	4300	6503	SO:0001583	missense	30832				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178503483G>A		CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.65G>A	5.37:g.178503483G>A	ENSP00000324064:p.Ser22Asn						p.S22N	NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)	3	180	+	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	22			KRAB.		Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	c.65G>A	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000569	0.54254	.	.	ENSG00000177932	ENST00000315475	T	0.02916	4.11	2.78	1.88	0.25563	Krueppel-associated box (4);	.	.	.	.	T	0.10252	0.0251	M	0.81682	2.555	0.28354	N	0.920777	P	0.51449	0.945	P	0.54460	0.753	T	0.03403	-1.1040	9	0.87932	D	0	-12.5491	9.6719	0.40017	0.0:0.2156:0.7844:0.0	.	22	Q86Y25	Z354C_HUMAN	N	22	ENSP00000324064:S22N	ENSP00000324064:S22N	S	+	2	0	ZNF354C	178436089	0.940000	0.31905	0.892000	0.35008	0.706000	0.40770	1.047000	0.30367	0.706000	0.31912	0.650000	0.86243	AGC		0.542	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2				13	42	0	0	0	0.001855	0	13	42		
FAM50B	26240	broad.mit.edu	37	6	3850672	3850672	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:3850672G>A	ENST00000380274.1	+	1	1053	c.627G>A	c.(625-627)gtG>gtA	p.V209V	FAM50B_ENST00000380272.3_Silent_p.V209V			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	209						nucleus (GO:0005634)		p.V209V(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GCAACACGGTGCAGCAGTTCC	0.647																																						uc003mvu.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	pancreas(1)	1						c.(625-627)GTG>GTA		family with sequence similarity 50, member B							43.0	45.0	44.0					6																	3850672		2203	4299	6502	SO:0001819	synonymous_variant	26240					nucleus		g.chr6:3850672G>A	Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.627G>A	6.37:g.3850672G>A							p.V209V	NM_012135	NP_036267	Q9Y247	FA50B_HUMAN			2	739	+	Ovarian(93;0.0925)	all_hematologic(90;0.108)	209					Q5T2L6	Silent	SNP	ENST00000380274.1	37	c.627G>A	CCDS4487.1																																																																																				0.647	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1		NM_012135		35	53	0	0	0	0.013726	0	35	53		
NKAPL	222698	broad.mit.edu	37	6	28228103	28228103	+	Silent	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:28228103C>A	ENST00000343684.3	+	1	1006	c.954C>A	c.(952-954)atC>atA	p.I318I	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	318								p.I318I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GAAAGCGAATCCCACGAAGAG	0.463																																						uc003nkt.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(952-954)ATC>ATA		NFKB activating protein-like							152.0	153.0	153.0					6																	28228103		2203	4300	6503	SO:0001819	synonymous_variant	222698							g.chr6:28228103C>A	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.954C>A	6.37:g.28228103C>A						ZKSCAN4_uc011dlb.1_5'Flank	p.I318I	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN			1	1006	+			318					Q3MIV1|Q9H4Q7	Silent	SNP	ENST00000343684.3	37	c.954C>A	CCDS34353.1																																																																																				0.463	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1				6	105	1	0	3.59834e-05	0.001168	3.85604e-05	6	105		
MOG	4340	broad.mit.edu	37	6	29640795	29640796	+	IGR	DNP	GG	GG	CT			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:29640795_29640796GG>CT	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376881.3_Missense_Mutation_p.L345V|ZFP57_ENST00000488757.1_Missense_Mutation_p.L365V|ZFP57_ENST00000376883.1_Missense_Mutation_p.L345V	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L345V(2)|p.T344T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TCCTGACAGAGGGTTCCAGTGA	0.49																																						uc011dlw.1		NaN																	3	Substitution - Missense(2)|Substitution - coding silent(1)		urinary_tract(3)	ovary(3)|skin(2)	5						c.(1090-1095)ACCCTC>ACAGTC		zinc finger protein 57 homolog																																				SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29640795_29640796GG>CT		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	Exception_encountered	6.37:g.29640795_29640796delinsCT						ZFP57_uc003nnl.3_Missense_Mutation_p.L345V	p.L365V	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN			4	1243_1244	-			281					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	DNP	ENST00000376917.3	37	c.1092_1093CC>AG	CCDS34370.1																																																																																				0.490	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3		NM_002433		124	88	0	0	0	0.004672	0	124	88		
TRIM10	10107	broad.mit.edu	37	6	30128418	30128418	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:30128418C>T	ENST00000449742.2	-	1	293	c.218G>A	c.(217-219)tGg>tAg	p.W73*	TRIM10_ENST00000376704.3_Nonsense_Mutation_p.W73*|TRIM15_ENST00000376694.4_5'Flank	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	73					erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.W73*(1)		ovary(1)	1						AGCCAGCTGCCAGTTGGGCCG	0.592																																						uc003npo.3		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(217-219)TGG>TAG		tripartite motif-containing 10 isoform 1							151.0	158.0	155.0					6																	30128418		2203	4300	6503	SO:0001587	stop_gained	10107					cytoplasm	zinc ion binding	g.chr6:30128418C>T	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.218G>A	6.37:g.30128418C>T	ENSP00000397073:p.Trp73*					TRIM10_uc003npn.2_Nonsense_Mutation_p.W73*|TRIM15_uc010jrx.2_5'Flank	p.W73*	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN			1	294	-			73					A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Nonsense_Mutation	SNP	ENST00000449742.2	37	c.218G>A	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	C	37	6.532361	0.97641	.	.	ENSG00000204613	ENST00000449742;ENST00000376704;ENST00000376706	.	.	.	5.37	5.37	0.77165	.	0.000000	0.49916	D	0.000121	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	16.97	0.86296	0.0:1.0:0.0:0.0	.	.	.	.	X	73	.	ENSP00000365894:W73X	W	-	2	0	TRIM10	30236397	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	5.637000	0.67854	2.691000	0.91804	0.549000	0.68633	TGG		0.592	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1				102	60	0	0	0	0.01441	0	102	60		
POU5F1	5460	broad.mit.edu	37	6	31133762	31133762	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:31133762C>G	ENST00000259915.8	-	2	540	c.468G>C	c.(466-468)aaG>aaC	p.K156N	POU5F1_ENST00000441888.3_5'UTR|POU5F1_ENST00000606567.1_5'UTR|POU5F1_ENST00000512818.1_5'UTR|POU5F1_ENST00000513407.1_5'UTR|POU5F1_ENST00000471529.2_5'UTR	NM_002701.4	NP_002692.2	Q01860	PO5F1_HUMAN	POU class 5 homeobox 1	156	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				anatomical structure morphogenesis (GO:0009653)|blastocyst development (GO:0001824)|BMP signaling pathway involved in heart induction (GO:0003130)|cardiac cell fate determination (GO:0060913)|cell fate commitment involved in formation of primary germ layer (GO:0060795)|endodermal cell fate specification (GO:0001714)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of gene silencing by miRNA (GO:0060965)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of asymmetric cell division (GO:0009786)|regulation of gene expression (GO:0010468)|regulation of heart induction by regulation of canonical Wnt signaling pathway (GO:0090081)|regulation of methylation-dependent chromatin silencing (GO:0090308)|regulation of transcription, DNA-templated (GO:0006355)|response to wounding (GO:0009611)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.K156N(1)	EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13					Dopamine(DB00988)|Norepinephrine(DB00368)	GGGTGATCCTCTTCTGCTTCA	0.498			T	EWSR1	sarcoma																																	uc003nsv.2		NaN		Dom	yes		6	6p21.31	5460	T	"""POU domain, class 5, transcription factor 1"""			M	EWSR1		sarcoma	EWSR1/POU5F1(10)	1	Substitution - Missense(1)		urinary_tract(1)	skin(7)|salivary_gland(2)|bone(2)|lung(1)|ovary(1)	13						c.(466-468)AAG>AAC		POU domain, class 5, transcription factor 1							72.0	72.0	72.0					6																	31133762		2203	4297	6500	SO:0001583	missense	5460				anatomical structure morphogenesis|blastocyst development|BMP signaling pathway involved in heart induction|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of catenin import into nucleus|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance|somatic stem cell maintenance	cytosol|nucleoplasm|transcription factor complex	miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr6:31133762C>G	Z11898	CCDS34391.1, CCDS47398.1, CCDS47398.2, CCDS75420.1	6p21.33	2011-06-20	2007-07-13		ENSG00000204531	ENSG00000204531		"""Homeoboxes / POU class"""	9221	protein-coding gene	gene with protein product		164177	"""POU domain class 5, transcription factor 1"""	OTF3		1408763	Standard	NM_002701		Approved	OCT3, Oct4, MGC22487	uc003nsv.3	Q01860	OTTHUMG00000031206	ENST00000259915.8:c.468G>C	6.37:g.31133762C>G	ENSP00000259915:p.Lys156Asn					POU5F1_uc003nsu.2_Missense_Mutation_p.K61N|uc011dnf.1_RNA	p.K156N	NM_002701	NP_002692	Q01860	PO5F1_HUMAN			2	522	-			156			POU-specific.		A6NCS1|A6NLL8|D2IYK4|P31359|Q15167|Q15168|Q16422|Q5STF3|Q5STF4	Missense_Mutation	SNP	ENST00000259915.8	37	c.468G>C	CCDS34391.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841513	0.71488	.	.	ENSG00000204531	ENST00000541552;ENST00000259915	D	0.85629	-2.01	5.04	3.25	0.37280	POU-specific (4);Lambda repressor-like, DNA-binding (2);	0.000000	0.42964	D	0.000640	D	0.88890	0.6560	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.89168	0.3535	10	0.87932	D	0	.	9.6068	0.39639	0.0:0.8264:0.0:0.1736	.	156;61	Q01860;D2IYK4	PO5F1_HUMAN;.	N	61;156	ENSP00000259915:K156N	ENSP00000259915:K156N	K	-	3	2	POU5F1	31241741	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.598000	0.36740	0.639000	0.30564	0.637000	0.83480	AAG		0.498	POU5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076413.4		NM_002701		21	13	0	0	0	0.014323	0	21	13		
C6orf222	389384	broad.mit.edu	37	6	36291124	36291126	+	Missense_Mutation	TNP	TGG	TGG	CTT			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:36291124_36291126TGG>CTT	ENST00000437635.2	-	8	1592_1594	c.1415_1417CCA>AAG	c.(1414-1419)cCCAgc>cAAGgc	p.472_473PS>QG		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	472								p.P472H(1)|p.P472P(1)|p.S473G(1)		breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGCAGAAAGCTGGGCCTCTTGGG	0.616																																						uc003oly.2		NaN																	3	Substitution - Missense(2)|Substitution - coding silent(1)		urinary_tract(3)	skin(2)|ovary(1)|breast(1)	4						c.(1414-1419)CCCAGC>CAAGGC		hypothetical protein LOC389384																																				SO:0001583	missense	389384							g.chr6:36291124_36291126TGG>CTT		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.1415_1417CCA>AAG	6.37:g.36291124TGG>CTT	ENSP00000418983:p.P472_S473delinsQG						p.472_473PS>QG	NM_001010903	NP_001010903	P0C671	CF222_HUMAN			8	1593_1595	-			472_473					B2RTY8	Missense_Mutation	TNP	ENST00000437635.2	37	c.1415_1417CCA>AAG	CCDS34439.1																																																																																				0.616	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2		NM_001010903		21	64	0	0	0	0.004672	0	21	64		
TRERF1	55809	broad.mit.edu	37	6	42236926	42236926	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:42236926G>T	ENST00000372922.4	-	5	965	c.403C>A	c.(403-405)Ctt>Att	p.L135I	TRERF1_ENST00000372917.4_Missense_Mutation_p.L135I|TRERF1_ENST00000354325.2_Missense_Mutation_p.L135I|TRERF1_ENST00000541110.1_Missense_Mutation_p.L135I|TRERF1_ENST00000340840.2_Missense_Mutation_p.L135I	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	135					cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.L135I(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCGCTGGTAAGCTTCTGGGTC	0.562																																						uc003osd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(403-405)CTT>ATT		transcriptional regulating factor 1							181.0	186.0	184.0					6																	42236926		2203	4300	6503	SO:0001583	missense	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42236926G>T	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.403C>A	6.37:g.42236926G>T	ENSP00000362013:p.Leu135Ile					TRERF1_uc011duq.1_Missense_Mutation_p.L135I|TRERF1_uc003osb.2_5'UTR|TRERF1_uc003osc.2_5'UTR|TRERF1_uc003ose.2_Missense_Mutation_p.L135I	p.L135I	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		5	966	-	Colorectal(47;0.196)		135					Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	c.403C>A	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	G	9.186	1.024725	0.19433	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.12569	2.84;2.67;2.89;2.67;2.67	5.5	4.55	0.56014	.	0.111351	0.39020	N	0.001497	T	0.02455	0.0075	N	0.04203	-0.255	0.29359	N	0.864807	P;B;B	0.36683	0.565;0.31;0.31	B;B;B	0.37650	0.255;0.08;0.08	T	0.40942	-0.9536	10	0.25106	T	0.35	-21.8931	11.0149	0.47682	0.0:0.0:0.5868:0.4132	.	135;135;135	Q96PN7-4;Q05GC8;Q96PN7	.;.;TREF1_HUMAN	I	135	ENSP00000439689:L135I;ENSP00000362008:L135I;ENSP00000362013:L135I;ENSP00000339438:L135I;ENSP00000346285:L135I	ENSP00000339438:L135I	L	-	1	0	TRERF1	42344904	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.520000	0.53465	2.595000	0.87683	0.462000	0.41574	CTT		0.562	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2		NM_033502		58	170	1	0	2.18419e-29	0.01441	2.71512e-29	58	170		
KHDRBS2	202559	broad.mit.edu	37	6	62887182	62887182	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:62887182C>A	ENST00000281156.4	-	2	405	c.127G>T	c.(127-129)Gaa>Taa	p.E43*		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	43					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)	p.E43*(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TCTTCGTCTTCCTTTTTTCCA	0.343																																						uc003peg.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	skin(7)|ovary(3)|liver(1)	11						c.(127-129)GAA>TAA		KH domain-containing, RNA-binding, signal							117.0	107.0	110.0					6																	62887182		2200	4298	6498	SO:0001587	stop_gained	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62887182C>A	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.127G>T	6.37:g.62887182C>A	ENSP00000281156:p.Glu43*						p.E43*	NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	2	374	-			43					A8K7M8|Q8N4I4|Q8TCZ4	Nonsense_Mutation	SNP	ENST00000281156.4	37	c.127G>T	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	C	39	7.668524	0.98422	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	.	.	.	5.08	5.08	0.68730	.	0.125792	0.52532	D	0.000064	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-1.3046	17.4364	0.87553	0.0:1.0:0.0:0.0	.	.	.	.	X	43	.	ENSP00000281156:E43X	E	-	1	0	KHDRBS2	62945141	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	5.512000	0.67030	2.339000	0.79563	0.460000	0.39030	GAA		0.343	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2		NM_152688		7	8	1	0	0.000157383	0.00308	0.000166884	7	8		
PHIP	55023	broad.mit.edu	37	6	79650578	79650578	+	Missense_Mutation	SNP	C	C	G	rs182783944		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:79650578C>G	ENST00000275034.4	-	40	5465	c.5298G>C	c.(5296-5298)atG>atC	p.M1766I	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1766					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.M1766I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TTCTAGTTCTCATGTGGGGTT	0.408																																						uc003pir.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(5296-5298)ATG>ATC		pleckstrin homology domain interacting protein							551.0	542.0	545.0					6																	79650578		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79650578C>G	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.5298G>C	6.37:g.79650578C>G	ENSP00000275034:p.Met1766Ile					PHIP_uc003piq.2_Missense_Mutation_p.M790I|PHIP_uc011dyp.1_Missense_Mutation_p.M1765I|IRAK1BP1_uc010kbg.1_Intron|PHIP_uc003pio.3_Missense_Mutation_p.M652I	p.M1766I	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	40	5524	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1766					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.5298G>C	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.509459	0.44660	.	.	ENSG00000146247	ENST00000275034	T	0.34472	1.36	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.14227	0.0344	L	0.32530	0.975	0.80722	D	1	B;B	0.21520	0.057;0.057	B;B	0.16289	0.015;0.015	T	0.05099	-1.0906	9	.	.	.	-13.8703	12.5994	0.56489	0.0:0.9249:0.0:0.0751	.	1766;1766	A7J992;Q8WWQ0	.;PHIP_HUMAN	I	1766	ENSP00000275034:M1766I	.	M	-	3	0	PHIP	79707297	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.810000	0.96702	0.650000	0.86243	ATG		0.408	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2				96	661	0	0	0	0.01441	0	96	661		
ORC3	23595	broad.mit.edu	37	6	88331710	88331710	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:88331710G>C	ENST00000392844.3	+	11	1212	c.1164G>C	c.(1162-1164)ttG>ttC	p.L388F	ORC3_ENST00000257789.4_Missense_Mutation_p.L388F|ORC3_ENST00000546266.1_Missense_Mutation_p.L245F|ORC3_ENST00000417380.2_Missense_Mutation_p.L335F	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	388					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)	p.L388F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						TTGCGCTCTTGACCAATGAGA	0.313																																						uc003pmh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1162-1164)TTG>TTC		origin recognition complex, subunit 3 isoform 2							172.0	159.0	164.0					6																	88331710		2203	4300	6503	SO:0001583	missense	23595				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr6:88331710G>C	AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"""origin recognition complex, subunit 3 (yeast homolog)-like"", ""origin recognition complex, subunit 3-like (yeast)"", ""origin recognition complex, subunit 3 honolog (yeast)"""	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.1164G>C	6.37:g.88331710G>C	ENSP00000376586:p.Leu388Phe					ORC3L_uc011dzl.1_Missense_Mutation_p.L388F|ORC3L_uc011dzm.1_Missense_Mutation_p.L388F|ORC3L_uc011dzn.1_RNA|ORC3L_uc003pmg.2_Missense_Mutation_p.L388F|ORC3L_uc003pmi.2_Missense_Mutation_p.L350F|ORC3L_uc011dzo.1_Missense_Mutation_p.L245F|ORC3L_uc011dzp.1_Missense_Mutation_p.L245F	p.L388F	NM_012381	NP_036513	Q9UBD5	ORC3_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0469)	11	1208	+		all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114)	388					A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Missense_Mutation	SNP	ENST00000392844.3	37	c.1164G>C	CCDS43486.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570258	0.65765	.	.	ENSG00000135336	ENST00000392844;ENST00000257789;ENST00000546266;ENST00000417380	T;T;T;T	0.21734	2.45;2.44;2.1;1.99	5.68	5.68	0.88126	.	0.064498	0.64402	D	0.000009	T	0.43942	0.1270	M	0.78049	2.395	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.81914	0.989;0.985;0.994;0.989;0.995	T	0.37911	-0.9685	10	0.87932	D	0	.	19.1345	0.93420	0.0:0.0:1.0:0.0	.	388;388;326;388;388	B7ZAI3;B7Z8A5;B4E014;Q9UBD5;Q9UBD5-2	.;.;.;ORC3_HUMAN;.	F	388;388;245;335	ENSP00000376586:L388F;ENSP00000257789:L388F;ENSP00000444695:L245F;ENSP00000390176:L335F	ENSP00000257789:L388F	L	+	3	2	ORC3	88388429	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	2.695000	0.47043	2.838000	0.97847	0.655000	0.94253	TTG		0.313	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041452.2				10	57	0	0	0	0.010729	0	10	57		
MDN1	23195	broad.mit.edu	37	6	90354787	90354787	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:90354787G>A	ENST00000369393.3	-	101	16664	c.16549C>T	c.(16549-16551)Cgg>Tgg	p.R5517W	MDN1_ENST00000428876.1_Missense_Mutation_p.R5517W			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5517	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.R5517W(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTTGCATTCCGGGCAGCCTGA	0.483																																						uc003pnn.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(8)|skin(2)	10						c.(16549-16551)CGG>TGG		MDN1, midasin homolog							84.0	88.0	87.0					6																	90354787		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90354787G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.16549C>T	6.37:g.90354787G>A	ENSP00000358400:p.Arg5517Trp						p.R5517W	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	101	16665	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	5517			VWFA.		O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.16549C>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.723316	0.48728	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.26067	1.76;1.76	6.03	5.16	0.70880	von Willebrand factor, type A (2);	0.483185	0.20829	N	0.084940	T	0.18923	0.0454	M	0.82823	2.61	0.36717	D	0.880973	B	0.17465	0.022	B	0.08055	0.003	T	0.10917	-1.0609	10	0.66056	D	0.02	.	10.2162	0.43170	0.0678:0.0:0.7971:0.1351	.	5517	Q9NU22	MDN1_HUMAN	W	5517	ENSP00000358400:R5517W;ENSP00000413970:R5517W	ENSP00000358400:R5517W	R	-	1	2	MDN1	90411508	1.000000	0.71417	0.962000	0.40283	0.895000	0.52256	6.149000	0.71795	1.567000	0.49668	0.555000	0.69702	CGG		0.483	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2				6	48	0	0	0	0.001168	0	6	48		
HSF2	3298	broad.mit.edu	37	6	122733619	122733619	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:122733619G>A	ENST00000368455.4	+	2	387	c.195G>A	c.(193-195)ctG>ctA	p.L65L	HSF2_ENST00000452194.1_Silent_p.L65L	NM_004506.3	NP_004497.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	65					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stress (GO:0006950)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.L65L(1)		large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		TGAGGCAACTGAATATGTGTG	0.373																																						uc003pyu.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(193-195)CTG>CTA		heat shock transcription factor 2 isoform a							94.0	93.0	93.0					6																	122733619		2203	4299	6502	SO:0001819	synonymous_variant	3298				response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:122733619G>A	M65217	CCDS5124.1, CCDS47470.1	6q22	2008-08-29			ENSG00000025156	ENSG00000025156			5225	protein-coding gene	gene with protein product		140581				1871106	Standard	NM_004506		Approved		uc003pyu.2	Q03933	OTTHUMG00000016216	ENST00000368455.4:c.195G>A	6.37:g.122733619G>A						HSF2_uc003pyt.3_Silent_p.L65L|HSF2_uc003pyv.2_Silent_p.L65L	p.L65L	NM_004506	NP_004497	Q03933	HSF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)	2	382	+			65			By similarity.		B4DGJ4|Q0VAH9|Q2M1K4|Q9H445	Silent	SNP	ENST00000368455.4	37	c.195G>A	CCDS5124.1																																																																																				0.373	HSF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043520.1		NM_004506		47	39	0	0	0	0.01441	0	47	39		
SOGA3	387104	broad.mit.edu	37	6	127796469	127796469	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:127796469C>A	ENST00000525778.1	-	6	3447	c.2702G>T	c.(2701-2703)cGc>cTc	p.R901L	SOGA3_ENST00000556132.1_Missense_Mutation_p.R901L|SOGA3_ENST00000465909.2_Missense_Mutation_p.R901L|SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000481848.2_Missense_Mutation_p.R901L|SOGA3_ENST00000368268.2_Missense_Mutation_p.R901L			Q5TF21	SOGA3_HUMAN	SOGA family member 3	901					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.R901L(1)|p.R901H(1)									CTCGGCGCCGCGGTCGTCCGC	0.667																																						uc003qbd.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	breast(3)|ovary(2)|skin(1)	6						c.(2701-2703)CGC>CTC		hypothetical protein LOC387104 precursor							39.0	44.0	43.0					6																	127796469		2143	4247	6390	SO:0001583	missense	387104					integral to membrane		g.chr6:127796469C>A	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2702G>T	6.37:g.127796469C>A	ENSP00000434570:p.Arg901Leu					C6orf174_uc003qbc.2_5'UTR	p.R901L	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)	6	3567	-			901						Missense_Mutation	SNP	ENST00000525778.1	37	c.2702G>T	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.441652	0.25900	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.35789	1.33;1.33;1.33;1.29	5.73	2.94	0.34122	.	0.265266	0.41823	N	0.000820	T	0.12178	0.0296	L	0.47716	1.5	0.09310	N	0.999998	B	0.02656	0.0	B	0.10450	0.005	T	0.26883	-1.0090	10	0.72032	D	0.01	-0.2499	4.9453	0.13985	0.1206:0.6227:0.1244:0.1324	.	901	Q5TF21	CF174_HUMAN	L	901	ENSP00000451768:R901L;ENSP00000357251:R901L;ENSP00000434570:R901L;ENSP00000435559:R901L	ENSP00000435559:R901L	R	-	2	0	C6orf174	127838162	0.052000	0.20516	0.073000	0.20177	0.631000	0.37964	0.900000	0.28431	0.320000	0.23234	0.561000	0.74099	CGC		0.667	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1		NM_001012279		4	68	1	0	3.59834e-05	0.001168	3.85604e-05	4	68		
NUDT1	4521	broad.mit.edu	37	7	2284269	2284269	+	Silent	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr7:2284269G>C	ENST00000397046.1	+	3	157	c.60G>C	c.(58-60)ctG>ctC	p.L20L	FTSJ2_ENST00000242257.8_5'Flank|FTSJ2_ENST00000440306.2_5'Flank|NUDT1_ENST00000339737.2_Silent_p.L20L|NUDT1_ENST00000343985.4_Silent_p.L43L|NUDT1_ENST00000356714.1_Silent_p.L20L|NUDT1_ENST00000397048.1_Silent_p.L43L|FTSJ2_ENST00000486040.1_5'Flank|NUDT1_ENST00000397049.1_Silent_p.L43L	NM_198950.1	NP_945188.1	P36639	8ODP_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 1	61					ATP catabolic process (GO:0006200)|dATP catabolic process (GO:0046061)|dGTP catabolic process (GO:0006203)|DNA protection (GO:0042262)|DNA repair (GO:0006281)|GTP catabolic process (GO:0006184)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleotide catabolic process (GO:0006195)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity (GO:0035539)|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity (GO:0008413)|ATP diphosphatase activity (GO:0047693)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|snoRNA binding (GO:0030515)	p.L43L(1)		large_intestine(3)|lung(8)|urinary_tract(1)	12		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		GAGTTCTCCTGGGCATGAAAA	0.602								Modulation of nucleotide pools																														uc003slp.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(127-129)CTG>CTC	Direct_reversal_of_damage|Modulation_of_nucleotide_pools	nudix-type motif 1 isoform p22							44.0	45.0	45.0					7																	2284269		2203	4300	6503	SO:0001819	synonymous_variant	4521				DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding	g.chr7:2284269G>C	D16581	CCDS5329.1, CCDS5330.1	7p22	2008-07-18			ENSG00000106268	ENSG00000106268		"""Nudix motif containing"""	8048	protein-coding gene	gene with protein product	"""mutT human homolog 1"", ""nudix motif 1"", ""8-oxo-7,8-dihydrodeoxyguanosine triphosphatase"", ""8-oxo-dGTPase"", ""7,8-dihydro-8-oxoguanine triphosphatase"", ""8-oxo-7,8-dihydroguanosine triphosphatase"", ""nucleoside diphosphate-linked moiety X-type motif 1"""	600312		MTH1		7713494, 8226881	Standard	NM_002452		Approved		uc003slp.1	P36639	OTTHUMG00000023072	ENST00000397046.1:c.60G>C	7.37:g.2284269G>C						FTSJ2_uc003slk.2_5'Flank|FTSJ2_uc003sll.2_5'Flank|FTSJ2_uc003slm.2_5'Flank|FTSJ2_uc003sln.2_5'Flank|FTSJ2_uc003slo.2_5'Flank|NUDT1_uc003slq.1_Silent_p.L20L|NUDT1_uc003slr.1_Silent_p.L20L|NUDT1_uc003sls.1_Silent_p.L43L|NUDT1_uc003slt.1_Silent_p.L20L|NUDT1_uc003slu.1_Silent_p.L43L|NUDT1_uc003slv.1_Silent_p.L20L	p.L43L	NM_198949	NP_945187	P36639	8ODP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)	3	231	+		Ovarian(82;0.0253)|Melanoma(862;0.155)	61			Nudix hydrolase.		A4D205|Q6LES7|Q6P0Y6|Q7Z7N6|Q8IV95|Q9UBM0|Q9UBM9	Silent	SNP	ENST00000397046.1	37	c.129G>C	CCDS5330.1																																																																																				0.602	NUDT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206922.1		NM_002452		35	35	0	0	0	0.004289	0	35	35		
AOAH	313	broad.mit.edu	37	7	36633960	36633960	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr7:36633960A>C	ENST00000258749.5	-	12	1322	c.923T>G	c.(922-924)cTg>cGg	p.L308R	AOAH_ENST00000535891.1_Missense_Mutation_p.L276R|AOAH_ENST00000431169.1_Missense_Mutation_p.L308R|AOAH_ENST00000538464.1_Missense_Mutation_p.L30R	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	308					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)	p.L308R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						AGTGGAGTCCAGAAATCCTGT	0.448																																						uc003tfh.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(922-924)CTG>CGG		acyloxyacyl hydrolase precursor							136.0	130.0	132.0					7																	36633960		2203	4300	6503	SO:0001583	missense	313				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	g.chr7:36633960A>C	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.923T>G	7.37:g.36633960A>C	ENSP00000258749:p.Leu308Arg					AOAH_uc010kxf.2_Missense_Mutation_p.L308R|AOAH_uc011kba.1_Missense_Mutation_p.L276R	p.L308R	NM_001637	NP_001628	P28039	AOAH_HUMAN			12	1324	-			308					A4D1Y5|B7Z490|Q53F13	Missense_Mutation	SNP	ENST00000258749.5	37	c.923T>G	CCDS5448.1	.	.	.	.	.	.	.	.	.	.	A	8.599	0.886304	0.17540	.	.	ENSG00000136250	ENST00000538464;ENST00000535891;ENST00000258749;ENST00000431169;ENST00000544647	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	4.9	4.9	0.64082	Esterase, SGNH hydrolase-type (1);Lipase, GDSL (1);	0.124236	0.36303	N	0.002667	T	0.28067	0.0692	.	.	.	0.39576	D	0.969355	D;P;P	0.76494	0.999;0.93;0.912	D;P;B	0.87578	0.998;0.601;0.439	T	0.04796	-1.0926	9	0.19590	T	0.45	.	10.8352	0.46683	1.0:0.0:0.0:0.0	.	276;308;308	B7Z490;C9J8T1;P28039	.;.;AOAH_HUMAN	R	30;276;308;308;308	ENSP00000439283:L30R;ENSP00000441101:L276R;ENSP00000258749:L308R;ENSP00000405683:L308R	ENSP00000258749:L308R	L	-	2	0	AOAH	36600485	1.000000	0.71417	0.985000	0.45067	0.165000	0.22458	2.939000	0.48995	2.064000	0.61679	0.455000	0.32223	CTG		0.448	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2		NM_001637		4	86	0	0	0	0.009096	0	4	86		
GPR141	353345	broad.mit.edu	37	7	37780823	37780823	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr7:37780823C>G	ENST00000447769.1	+	4	1117	c.828C>G	c.(826-828)agC>agG	p.S276R	GPR141_ENST00000334425.1_Missense_Mutation_p.S276R|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S276R(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGCAATTAGCTGCTATGATT	0.378																																						uc003tfm.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(826-828)AGC>AGG		G protein-coupled receptor 141							138.0	133.0	135.0					7																	37780823		2203	4300	6503	SO:0001583	missense	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780823C>G	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.828C>G	7.37:g.37780823C>G	ENSP00000390410:p.Ser276Arg					uc003tfl.2_Intron	p.S276R	NM_181791	NP_861456	Q7Z602	GP141_HUMAN			1	828	+			276			Helical; Name=7; (Potential).		A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	ENST00000447769.1	37	c.828C>G	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.233378	0.39498	.	.	ENSG00000187037	ENST00000447769;ENST00000334425	T;T	0.49720	0.77;0.77	5.2	2.09	0.27110	GPCR, rhodopsin-like superfamily (1);	0.102782	0.64402	D	0.000003	T	0.59905	0.2228	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.58405	-0.7642	10	0.87932	D	0	-9.584	7.895	0.29702	0.0:0.6275:0.0:0.3725	.	276	Q7Z602	GP141_HUMAN	R	276	ENSP00000390410:S276R;ENSP00000334540:S276R	ENSP00000334540:S276R	S	+	3	2	GPR141	37747348	1.000000	0.71417	0.999000	0.59377	0.548000	0.35241	1.388000	0.34442	0.315000	0.23110	-0.137000	0.14449	AGC		0.378	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2		NM_181791		10	152	0	0	0	0.008291	0	10	152		
H2AFV	94239	broad.mit.edu	37	7	44880564	44880564	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr7:44880564G>A	ENST00000308153.4	-	3	220	c.129C>T	c.(127-129)agC>agT	p.S43S	H2AFV_ENST00000381124.5_Silent_p.S43S|H2AFV_ENST00000437072.1_Intron|H2AFV_ENST00000521529.1_Silent_p.S17S|H2AFV_ENST00000350771.3_Silent_p.S17S|H2AFV_ENST00000349299.3_Intron|H2AFV_ENST00000222690.6_Silent_p.S43S|H2AFV_ENST00000446531.1_Silent_p.S43S	NM_012412.4	NP_036544.1	Q71UI9	H2AV_HUMAN	H2A histone family, member V	43						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S43S(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	9						CCCTTCCATGGCTTGTGGTGC	0.512																																						uc003tma.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(127-129)AGC>AGT		H2A histone family, member V isoform 1							103.0	87.0	92.0					7																	44880564		2203	4300	6503	SO:0001819	synonymous_variant	94239				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr7:44880564G>A	AF081192	CCDS5495.1, CCDS5496.1, CCDS5497.1, CCDS5498.1, CCDS47581.1	7p13	2011-01-27		2004-03-26	ENSG00000105968	ENSG00000105968		"""Histones / Replication-independent"""	20664	protein-coding gene	gene with protein product				H2AV			Standard	NM_012412		Approved	MGC10170, MGC10831, MGC1947	uc003tma.2	Q71UI9	OTTHUMG00000129217	ENST00000308153.4:c.129C>T	7.37:g.44880564G>A						H2AFV_uc003tlz.2_Silent_p.S43S|H2AFV_uc003tmb.2_Intron|H2AFV_uc003tmc.2_Silent_p.S43S|H2AFV_uc003tmd.2_Silent_p.S17S	p.S43S	NM_012412	NP_036544	Q71UI9	H2AV_HUMAN			3	284	-			43					A6NFA8|A6NKY0|A6NN01|A8MQC5|Q59GV8|Q6PK98	Silent	SNP	ENST00000308153.4	37	c.129C>T	CCDS5496.1																																																																																				0.512	H2AFV-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251305.1		NM_012412		5	58	0	0	0	0.000602	0	5	58		
ABCA13	154664	broad.mit.edu	37	7	48280473	48280473	+	Nonsense_Mutation	SNP	C	C	T	rs200039339		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr7:48280473C>T	ENST00000435803.1	+	10	1096	c.1072C>T	c.(1072-1074)Cag>Tag	p.Q358*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	358					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.Q358*(1)|p.Q303*(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						GGTGTTTGTTCAGTGGCAACA	0.408													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18838	0.0		0.0	False		,,,				2504	0.0					uc003toq.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(1072-1074)CAG>TAG		ATP binding cassette, sub-family A (ABC1),							78.0	75.0	76.0					7																	48280473		1904	4123	6027	SO:0001587	stop_gained	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48280473C>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.1072C>T	7.37:g.48280473C>T	ENSP00000411096:p.Gln358*					ABCA13_uc010kyr.2_5'UTR	p.Q358*	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			10	1097	+			358					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	ENST00000435803.1	37	c.1072C>T	CCDS47584.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	23.8	4.457947	0.84317	.	.	ENSG00000179869	ENST00000435803	.	.	.	5.3	4.42	0.53409	.	0.313877	0.23336	N	0.049297	.	.	.	.	.	.	0.24888	N	0.992188	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.0112	0.41988	0.0:0.9057:0.0:0.0943	.	.	.	.	X	358	.	ENSP00000411096:Q358X	Q	+	1	0	ABCA13	48251019	0.185000	0.23213	0.013000	0.15412	0.107000	0.19398	0.782000	0.26788	1.361000	0.45981	0.655000	0.94253	CAG		0.408	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2		NM_152701		23	51	0	0	0	0.00333	0	23	51		
POM121	9883	broad.mit.edu	37	7	72412672	72412672	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr7:72412672T>C	ENST00000434423.2	+	11	2140	c.2140T>C	c.(2140-2142)Tcc>Ccc	p.S714P	POM121_ENST00000358357.3_Missense_Mutation_p.S449P|POM121_ENST00000446813.1_Missense_Mutation_p.S449P|POM121_ENST00000257622.4_Missense_Mutation_p.S449P|POM121_ENST00000395270.1_Missense_Mutation_p.S449P			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	714	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.S449P(2)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CACCTCACCTTCCAGCCCTGC	0.607																																						uc003twk.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(2140-2142)TCC>CCC		nuclear pore membrane protein 121							25.0	32.0	29.0					7																	72412672		2173	4292	6465	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72412672T>C	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.2140T>C	7.37:g.72412672T>C	ENSP00000405562:p.Ser714Pro					POM121_uc003twj.2_Missense_Mutation_p.S449P|POM121_uc010lam.1_Missense_Mutation_p.S449P	p.S714P	NM_172020	NP_742017	Q96HA1	P121A_HUMAN			11	2140	+		Lung NSC(55;0.163)	714			Pore side (Potential).		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.2140T>C		.	.	.	.	.	.	.	.	.	.	T	6.735	0.504445	0.12822	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.06933	3.24;3.27;3.24;3.27;3.49	1.78	-3.37	0.04898	.	0.717324	0.11603	N	0.547566	T	0.07638	0.0192	N	0.21194	0.64	0.09310	N	1	D;B	0.53745	0.962;0.01	P;B	0.52481	0.7;0.012	T	0.23297	-1.0192	10	0.29301	T	0.29	.	6.4831	0.22073	0.0:0.1513:0.613:0.2357	.	449;714	A8MXF9;Q96HA1	.;P121A_HUMAN	P	449;449;449;449;714	ENSP00000393020:S449P;ENSP00000257622:S449P;ENSP00000378687:S449P;ENSP00000351124:S449P;ENSP00000405562:S714P	ENSP00000257622:S449P	S	+	1	0	POM121	72050608	0.000000	0.05858	0.000000	0.03702	0.325000	0.28411	-0.040000	0.12104	-0.794000	0.04468	0.145000	0.16022	TCC		0.607	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1				6	76	0	0	0	0.00308	0	6	76		
PILRA	29992	broad.mit.edu	37	7	99987517	99987517	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr7:99987517C>T	ENST00000198536.2	+	3	673	c.461C>T	c.(460-462)aCg>aTg	p.T154M	PILRA_ENST00000394000.2_Intron|PILRA_ENST00000453419.1_Intron|PILRA_ENST00000350573.2_Intron	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	154					signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T154M(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCAGCTGTCACGACCACCACC	0.612																																						uc003uuo.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(460-462)ACG>ATG		paired immunoglobulin-like type 2 receptor alpha							106.0	89.0	95.0					7																	99987517		2203	4300	6503	SO:0001583	missense	29992				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr7:99987517C>T	AF161080	CCDS5691.1, CCDS5692.1, CCDS47660.1	7q22.1	2013-01-11			ENSG00000085514	ENSG00000085514		"""Immunoglobulin superfamily / V-set domain containing"""	20396	protein-coding gene	gene with protein product		605341				10660620	Standard	NM_178272		Approved	FDF03	uc003uuo.1	Q9UKJ1	OTTHUMG00000155248	ENST00000198536.2:c.461C>T	7.37:g.99987517C>T	ENSP00000198536:p.Thr154Met					PILRA_uc011kjo.1_Intron|PILRA_uc003uup.1_Intron|PILRA_uc003uuq.1_Intron	p.T154M	NM_013439	NP_038467	Q9UKJ1	PILRA_HUMAN			3	673	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		154			Extracellular (Potential).		Q8NHI1	Missense_Mutation	SNP	ENST00000198536.2	37	c.461C>T	CCDS5691.1	.	.	.	.	.	.	.	.	.	.	C	8.571	0.880057	0.17467	.	.	ENSG00000085514	ENST00000198536	T	0.19105	2.17	3.72	-3.87	0.04218	.	1.640590	0.03429	N	0.207454	T	0.07098	0.0180	N	0.08118	0	0.09310	N	1	D	0.53151	0.958	B	0.32090	0.14	T	0.27905	-1.0060	9	.	.	.	.	5.0042	0.14280	0.2951:0.3412:0.3637:0.0	.	154	Q9UKJ1	PILRA_HUMAN	M	154	ENSP00000198536:T154M	.	T	+	2	0	PILRA	99825453	0.000000	0.05858	0.001000	0.08648	0.157000	0.22087	-0.231000	0.09069	-0.736000	0.04831	-1.083000	0.02208	ACG		0.612	PILRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339016.1		NM_013439		7	62	0	0	0	0.00308	0	7	62		
LMOD2	442721	broad.mit.edu	37	7	123296034	123296034	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr7:123296034A>G	ENST00000458573.2	+	1	174	c.17A>G	c.(16-18)tAc>tGc	p.Y6C	LMOD2_ENST00000456238.2_Missense_Mutation_p.Y6C	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	6	Tropomyosin-binding. {ECO:0000250}.					cytoskeleton (GO:0005856)		p.Y6C(1)									ACCTTTGGCTACCGAAGAGGA	0.557																																						uc003vky.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(16-18)TAC>TGC		leiomodin 2 (cardiac)							31.0	33.0	32.0					7																	123296034		2035	4199	6234	SO:0001583	missense	442721					cytoskeleton	actin binding|tropomyosin binding	g.chr7:123296034A>G	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.17A>G	7.37:g.123296034A>G	ENSP00000411932:p.Tyr6Cys						p.Y6C	NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN			1	174	+			6			Tropomyosin-binding (By similarity).		A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	SNP	ENST00000458573.2	37	c.17A>G	CCDS47693.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.435902	0.83885	.	.	ENSG00000170807	ENST00000458573;ENST00000444702;ENST00000332074;ENST00000456238	T;T	0.32272	1.46;1.46	5.91	5.91	0.95273	.	0.000000	0.33419	N	0.004931	T	0.58609	0.2134	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63129	-0.6706	10	0.87932	D	0	-11.6038	16.3483	0.83171	1.0:0.0:0.0:0.0	.	6	Q6P5Q4	LMOD2_HUMAN	C	6	ENSP00000411932:Y6C;ENSP00000398975:Y6C	ENSP00000405123:Y6C	Y	+	2	0	LMOD2	123083270	1.000000	0.71417	0.978000	0.43139	0.965000	0.64279	9.339000	0.96797	2.254000	0.74563	0.533000	0.62120	TAC		0.557	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1				3	6	0	0	0	0.009096	0	3	6		
TEX15	56154	broad.mit.edu	37	8	30704189	30704189	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:30704189C>T	ENST00000256246.2	-	1	2419	c.2345G>A	c.(2344-2346)aGg>aAg	p.R782K	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	782					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.R782K(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GAATCCTGGCCTAAATATATT	0.353																																						uc003xil.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(2344-2346)AGG>AAG		testis expressed 15							47.0	51.0	49.0					8																	30704189		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30704189C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.2345G>A	8.37:g.30704189C>T	ENSP00000256246:p.Arg782Lys						p.R782K	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	2345	-			782						Missense_Mutation	SNP	ENST00000256246.2	37	c.2345G>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	6.445	0.450287	0.12223	.	.	ENSG00000133863	ENST00000256246	T	0.09073	3.02	5.93	1.32	0.21799	.	0.907596	0.09477	N	0.796849	T	0.04182	0.0116	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.12156	0.007	T	0.41395	-0.9511	10	0.87932	D	0	.	3.2203	0.06713	0.2764:0.3281:0.0:0.3955	.	782	Q9BXT5	TEX15_HUMAN	K	782	ENSP00000256246:R782K	ENSP00000256246:R782K	R	-	2	0	TEX15	30823731	0.000000	0.05858	0.006000	0.13384	0.198000	0.23893	0.131000	0.15870	0.322000	0.23283	0.655000	0.94253	AGG		0.353	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1				8	85	0	0	0	0.004482	0	8	85		
ADAM9	8754	broad.mit.edu	37	8	38948794	38948794	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:38948794C>G	ENST00000487273.2	+	20	2305	c.2227C>G	c.(2227-2229)Caa>Gaa	p.Q743E		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	743				Missing (in Ref. 2; no nucleotide entry). {ECO:0000305}.	activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.Q743E(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TGGCAAAAATCAAGCAAACCC	0.338																																						uc003xmr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(2227-2229)CAA>GAA		ADAM metallopeptidase domain 9 isoform 1							111.0	121.0	117.0					8																	38948794		2203	4300	6503	SO:0001583	missense	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38948794C>G	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.2227C>G	8.37:g.38948794C>G	ENSP00000419446:p.Gln743Glu					ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA|ADAM9_uc003xms.2_RNA	p.Q743E	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		20	2305	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	743	Missing (in Ref. 2; no nucleotide entry).		Cytoplasmic (Potential).		B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	ENST00000487273.2	37	c.2227C>G	CCDS6112.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485342	0.26686	.	.	ENSG00000168615	ENST00000487273	D	0.87256	-2.23	4.67	4.67	0.58626	.	0.308555	0.32970	N	0.005432	T	0.77485	0.4137	L	0.34521	1.04	0.43347	D	0.995406	B	0.06786	0.001	B	0.04013	0.001	T	0.68812	-0.5310	10	0.02654	T	1	.	13.255	0.60073	0.0:1.0:0.0:0.0	.	743	Q13443	ADAM9_HUMAN	E	743	ENSP00000419446:Q743E	ENSP00000419446:Q743E	Q	+	1	0	ADAM9	39067951	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	3.347000	0.52200	2.582000	0.87167	0.436000	0.28706	CAA		0.338	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2				14	149	0	0	0	0.001855	0	14	149		
MOS	4342	broad.mit.edu	37	8	57025924	57025924	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:57025924G>T	ENST00000311923.1	-	1	617	c.618C>A	c.(616-618)aaC>aaA	p.N206K		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	206	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)	p.N206K(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			TGATCAAGATGTTCGCGGGCT	0.483																																					Esophageal Squamous(124;373 2870 4778)	uc011leb.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(2)|ovary(1)|central_nervous_system(1)	4						c.(616-618)AAC>AAA		v-mos Moloney murine sarcoma viral oncogene							61.0	59.0	60.0					8																	57025924		2203	4300	6503	SO:0001583	missense	4342						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:57025924G>T		CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.618C>A	8.37:g.57025924G>T	ENSP00000310722:p.Asn206Lys						p.N206K	NM_005372	NP_005363	P00540	MOS_HUMAN	Epithelial(17;0.00117)|all cancers(17;0.00879)		1	618	-			206			Protein kinase.		Q3KPG9|Q3KPH0	Missense_Mutation	SNP	ENST00000311923.1	37	c.618C>A	CCDS6164.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791737	0.70452	.	.	ENSG00000172680	ENST00000311923	D	0.91996	-2.95	5.8	4.93	0.64822	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	0.97238	0.9097	H	0.98507	4.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96614	0.9454	10	0.87932	D	0	.	7.1724	0.25726	0.2811:0.0:0.7189:0.0	.	206	P00540	MOS_HUMAN	K	206	ENSP00000310722:N206K	ENSP00000310722:N206K	N	-	3	2	MOS	57188478	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	1.841000	0.39240	1.474000	0.48178	0.561000	0.74099	AAC		0.483	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1		NM_005372		18	32	1	0	3.41278e-10	0.00499	3.98487e-10	18	32		
NSMAF	8439	broad.mit.edu	37	8	59503463	59503463	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:59503463G>A	ENST00000038176.3	-	24	2194	c.1982C>T	c.(1981-1983)tCa>tTa	p.S661L	NSMAF_ENST00000427130.2_Missense_Mutation_p.S692L	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	661					ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)	p.S692L(1)|p.S661L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TAGCATTTTTGATTCTTTAGA	0.289																																						uc003xtt.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(1981-1983)TCA>TTA		neutral sphingomyelinase (N-SMase) activation							41.0	43.0	42.0					8																	59503463		2186	4291	6477	SO:0001583	missense	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59503463G>A	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1982C>T	8.37:g.59503463G>A	ENSP00000038176:p.Ser661Leu					NSMAF_uc011lee.1_Missense_Mutation_p.S692L	p.S661L	NM_003580	NP_003571	Q92636	FAN_HUMAN			24	2196	-		all_lung(136;0.174)|Lung NSC(129;0.2)	661					B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	c.1982C>T	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285095	0.40394	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.32988	1.43;1.43	5.86	4.97	0.65823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.282047	0.40302	N	0.001136	T	0.21347	0.0514	N	0.21448	0.665	0.33944	D	0.643627	B;B	0.13145	0.004;0.007	B;B	0.11329	0.006;0.006	T	0.19811	-1.0294	9	.	.	.	.	13.9718	0.64245	0.0:0.0:0.7239:0.2761	.	692;661	Q92636-2;Q92636	.;FAN_HUMAN	L	661;692	ENSP00000038176:S661L;ENSP00000411012:S692L	.	S	-	2	0	NSMAF	59666017	0.998000	0.40836	1.000000	0.80357	0.899000	0.52679	2.764000	0.47613	1.456000	0.47831	0.643000	0.83706	TCA		0.289	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1		NM_003580		11	22	0	0	0	0.010729	0	11	22		
CSPP1	79848	broad.mit.edu	37	8	68049786	68049786	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:68049786G>T	ENST00000262210.5	+	15	1939	c.1908G>T	c.(1906-1908)tgG>tgT	p.W636C	CSPP1_ENST00000412460.1_Missense_Mutation_p.W342C	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	671					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.W636C(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ATAATCCCTGGGGAAAAGGTG	0.348																																						uc003xxi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|breast(2)	5						c.(2011-2013)TGG>TGT		centrosome spindle pole associated protein 1							84.0	88.0	87.0					8																	68049786		1846	4086	5932	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68049786G>T	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1908G>T	8.37:g.68049786G>T	ENSP00000262210:p.Trp636Cys					CSPP1_uc003xxg.1_Missense_Mutation_p.W663C|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.W636C|CSPP1_uc003xxk.2_Missense_Mutation_p.W342C	p.W671C	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		17	2044	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	671					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.2013G>T	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268925	0.80469	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	D;D;D	0.85773	-2.03;-2.03;-2.03	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000001	D	0.91593	0.7344	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.91950	0.5570	10	0.72032	D	0.01	-6.4293	19.0512	0.93046	0.0:0.0:1.0:0.0	.	342;636;671;671	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	C	636;671;342;342	ENSP00000262210:W636C;ENSP00000415782:W342C;ENSP00000430092:W342C	ENSP00000262210:W636C	W	+	3	0	CSPP1	68212340	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.217000	0.89766	2.668000	0.90789	0.460000	0.39030	TGG		0.348	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1		NM_024790		11	21	1	0	9.70103e-10	0.008291	1.12298e-09	11	21		
RAD54B	25788	broad.mit.edu	37	8	95392549	95392549	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:95392549C>T	ENST00000336148.5	-	12	2195	c.2071G>A	c.(2071-2073)Gat>Aat	p.D691N		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	691	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)	p.D691N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GTTTGTCCATCAAGTCTTGTA	0.363								Direct reversal of damage;Homologous recombination																														uc003ygk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(2)|lung(1)|skin(1)	4						c.(2071-2073)GAT>AAT	Direct_reversal_of_damage|Homologous_recombination	RAD54 homolog B							126.0	111.0	116.0					8																	95392549		2203	4300	6503	SO:0001583	missense	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95392549C>T	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.2071G>A	8.37:g.95392549C>T	ENSP00000336606:p.Asp691Asn					RAD54B_uc010may.1_Missense_Mutation_p.D498N	p.D691N	NM_012415	NP_036547	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		12	2169	-	Breast(36;4.5e-05)		Error:Variant_position_missing_in_O95073_after_alignment					F6WBS8	Missense_Mutation	SNP	ENST00000336148.5	37	c.2071G>A	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	C	35	5.475504	0.96291	.	.	ENSG00000197275	ENST00000336148;ENST00000546218	T	0.77620	-1.11	5.83	5.83	0.93111	Helicase, C-terminal (3);	0.097920	0.64402	D	0.000002	D	0.91181	0.7222	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92654	0.6135	10	0.87932	D	0	-26.7616	18.2956	0.90145	0.0:1.0:0.0:0.0	.	691	Q9Y620	RA54B_HUMAN	N	691;363	ENSP00000336606:D691N	ENSP00000336606:D691N	D	-	1	0	RAD54B	95461725	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.625000	0.83145	2.761000	0.94854	0.650000	0.86243	GAT		0.363	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3		NM_012415		23	39	0	0	0	0.004656	0	23	39		
HRSP12	10247	broad.mit.edu	37	8	99118512	99118512	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:99118512C>T	ENST00000254878.3	-	3	358	c.214G>A	c.(214-216)Gac>Aac	p.D72N		NM_005836.2	NP_005827.1	P52758	UK114_HUMAN	heat-responsive protein 12	72					regulation of translational termination (GO:0006449)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	deaminase activity (GO:0019239)|endonuclease activity (GO:0004519)|poly(A) RNA binding (GO:0044822)	p.D72N(1)		large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	6	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			TTAGTGAAGTCACAGCCTGCA	0.363																																						uc003yii.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(214-216)GAC>AAC		heat-responsive protein 12							106.0	108.0	108.0					8																	99118512		2203	4300	6503	SO:0001583	missense	10247				regulation of translational termination	nucleus	endonuclease activity	g.chr8:99118512C>T	BC008418	CCDS6276.1	8q22	2014-05-09			ENSG00000132541	ENSG00000132541			16897	protein-coding gene	gene with protein product	"""translational inhibitor p14.5"""	602487				8973653, 9405234, 20817725	Standard	NM_005836		Approved	UK114, P14.5, PSP	uc003yii.1	P52758	OTTHUMG00000164670	ENST00000254878.3:c.214G>A	8.37:g.99118512C>T	ENSP00000254878:p.Asp72Asn						p.D72N	NM_005836	NP_005827	P52758	UK114_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.214)		3	308	-	Breast(36;1.78e-06)		72					Q6FHU9|Q6IBG0	Missense_Mutation	SNP	ENST00000254878.3	37	c.214G>A	CCDS6276.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545604	0.65198	.	.	ENSG00000132541	ENST00000254878;ENST00000520989	.	.	.	5.82	5.82	0.92795	Endoribonuclease L-PSP/chorismate mutase-like (2);	0.104769	0.64402	D	0.000004	T	0.59155	0.2173	L	0.52759	1.655	0.37138	D	0.901578	B	0.19331	0.035	B	0.20577	0.03	T	0.58775	-0.7577	9	0.39692	T	0.17	.	17.0097	0.86403	0.0:1.0:0.0:0.0	.	72	P52758	UK114_HUMAN	N	72	.	ENSP00000254878:D72N	D	-	1	0	HRSP12	99187688	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.900000	0.48687	2.756000	0.94617	0.561000	0.74099	GAC		0.363	HRSP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379687.1		NM_005836		11	89	0	0	0	0.008291	0	11	89		
OXR1	55074	broad.mit.edu	37	8	107718630	107718631	+	Missense_Mutation	DNP	GA	GA	TG			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:107718630_107718631GA>TG	ENST00000442977.2	+	8	983_984	c.884_885GA>TG	c.(883-885)gGA>gTG	p.G295V	OXR1_ENST00000445937.1_Missense_Mutation_p.G294V|OXR1_ENST00000531443.1_Missense_Mutation_p.G294V|OXR1_ENST00000497705.1_Missense_Mutation_p.G227V|OXR1_ENST00000517566.2_Missense_Mutation_p.G294V|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000312046.6_Missense_Mutation_p.G287V	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	295					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)	p.G206G(1)|p.G295G(1)|p.G295>?(1)|p.G206>?(1)|p.G206V(1)|p.G295V(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			CAGCTATCAGGAAGGGACTTCT	0.351																																						uc011lht.1		NaN																	6	Substitution - Missense(2)|Complex(2)|Substitution - coding silent(2)		urinary_tract(6)		0						c.(883-885)GGA>GTG		oxidation resistance 1 isoform 1																																				SO:0001583	missense	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107718630_107718631GA>TG	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	Exception_encountered	8.37:g.107718630_107718631delinsTG	ENSP00000405424:p.Gly295Val					OXR1_uc003ymf.2_Missense_Mutation_p.G294V|OXR1_uc011lhu.1_Missense_Mutation_p.G287V|OXR1_uc010mcg.2_Intron|OXR1_uc010mch.2_5'UTR|OXR1_uc003ymg.1_Missense_Mutation_p.G227V|OXR1_uc003ymi.1_Missense_Mutation_p.G206V	p.G295V	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		8	983_984	+			295					A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	DNP	ENST00000442977.2	37	c.884_885GA>TG	CCDS56548.1																																																																																				0.351	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_181354		9	62	0	0	0	0.004672	0	9	62		
TG	7038	broad.mit.edu	37	8	133941430	133941430	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:133941430C>T	ENST00000220616.4	+	23	4849	c.4809C>T	c.(4807-4809)tgC>tgT	p.C1603C	TG_ENST00000542445.1_Silent_p.C37C|TG_ENST00000377869.1_Silent_p.C1546C	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1603					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.C1603C(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGATGCAGTGCTTGACAGGTG	0.468																																						uc003ytw.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(4807-4809)TGC>TGT		thyroglobulin precursor							123.0	102.0	109.0					8																	133941430		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133941430C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4809C>T	8.37:g.133941430C>T						TG_uc010mdw.2_Silent_p.C362C|TG_uc011ljb.1_Silent_p.C36C|TG_uc003ytx.1_RNA	p.C1603C	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	23	4850	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1603			Type IIIA.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.4809C>T	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	3.000	-0.206202	0.06180	.	.	ENSG00000042832	ENST00000519178	.	.	.	5.22	3.44	0.39384	.	.	.	.	.	T	0.58163	0.2103	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52555	-0.8560	4	.	.	.	.	8.3552	0.32327	0.0:0.8189:0.0:0.1811	.	.	.	.	F	123	.	.	L	+	1	0	TG	134010612	0.529000	0.26322	0.999000	0.59377	0.330000	0.28571	-0.064000	0.11636	0.713000	0.32060	-0.137000	0.14449	CTT		0.468	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1		NM_003235		3	87	0	0	0	0.004672	0	3	87		
COL22A1	169044	broad.mit.edu	37	8	139833571	139833571	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:139833571G>A	ENST00000303045.6	-	7	1499	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	COL22A1_ENST00000435777.1_Silent_p.F351F	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	351	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.F351F(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GAGAACCTCGGAAGACCACCC	0.582										HNSCC(7;0.00092)																												uc003yvd.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(1051-1053)TTC>TTT		collagen, type XXII, alpha 1							145.0	139.0	141.0					8																	139833571		2203	4300	6503	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139833571G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1053C>T	8.37:g.139833571G>A		HNSCC(7;0.00092)					p.F351F	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		7	1500	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		351			TSP N-terminal.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.1053C>T	CCDS6376.1																																																																																				0.582	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2		XM_291257		7	86	0	0	0	0.001984	0	7	86		
DNAI1	27019	broad.mit.edu	37	9	34514409	34514409	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr9:34514409C>T	ENST00000242317.4	+	17	1758	c.1587C>T	c.(1585-1587)tcC>tcT	p.S529S		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	529					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)	p.S529S(1)		autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		AATCCTACTCCAGCCAATTCC	0.567									Kartagener syndrome																													uc003zum.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1585-1587)TCC>TCT		dynein, axonemal, intermediate chain 1							162.0	147.0	152.0					9																	34514409		2203	4300	6503	SO:0001819	synonymous_variant	27019	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	g.chr9:34514409C>T	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.1587C>T	9.37:g.34514409C>T							p.S529S	NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	17	1780	+	all_epithelial(49;0.244)		529					B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Silent	SNP	ENST00000242317.4	37	c.1587C>T	CCDS6557.1	.	.	.	.	.	.	.	.	.	.	C	9.713	1.157589	0.21454	.	.	ENSG00000122735	ENST00000442556	.	.	.	5.47	3.61	0.41365	.	.	.	.	.	T	0.58836	0.2150	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55835	-0.8078	4	.	.	.	.	8.9446	0.35751	0.0:0.8219:0.0:0.1781	.	.	.	.	L	33	.	.	P	+	2	0	DNAI1	34504409	0.988000	0.35896	1.000000	0.80357	0.993000	0.82548	0.196000	0.17176	1.302000	0.44855	0.561000	0.74099	CCA		0.567	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1				82	63	0	0	0	0.01441	0	82	63		
GNE	10020	broad.mit.edu	37	9	36276944	36276944	+	Silent	SNP	C	C	T	rs368762704		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr9:36276944C>T	ENST00000543356.2	-	1	95	c.96G>A	c.(94-96)tcG>tcA	p.S32S	GNE_ENST00000396594.3_5'UTR	NM_001190388.1	NP_001177317.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	37					carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)	p.S32S(1)		endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			GTTTCCATCCCGAAGCACGAG	0.433																																					GBM(184;106 2118 20004 35750 50727)	uc010mlj.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(94-96)TCG>TCA		UDP-N-acetylglucosamine-2-epimerase/N-		C	,	1,3135		0,1,1567	124.0	108.0	113.0		,96	-11.0	0.0	9		113	1,7163		0,1,3581	no	utr-5,coding-synonymous	GNE	NM_001128227.2,NM_001190388.1	,	0,2,5148	TT,TC,CC		0.014,0.0319,0.0194	,	,32/718	36276944	2,10298	1568	3582	5150	SO:0001819	synonymous_variant	10020				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity	g.chr9:36276944C>T	AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"""UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"""	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000543356.2:c.96G>A	9.37:g.36276944C>T						CLTA_uc003zzf.1_Intron|GNE_uc010mli.2_5'UTR	p.S32S	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		1	98	-			Error:Variant_position_missing_in_Q9Y223_after_alignment					A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Silent	SNP	ENST00000543356.2	37	c.96G>A	CCDS55310.1																																																																																				0.433	GNE-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401510.2		NM_005476		46	68	0	0	0	0.01441	0	46	68		
RORB	6096	broad.mit.edu	37	9	77257389	77257389	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr9:77257389A>G	ENST00000396204.2	+	4	328	c.328A>G	c.(328-330)Aag>Gag	p.K110E	RORB_ENST00000376896.3_Missense_Mutation_p.K99E			Q92753	RORB_HUMAN	RAR-related orphan receptor B	110	Hinge. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.K99E(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	TGAGGTgcagaagcaccagca	0.557																																						uc004aji.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(1)|skin(1)	4						c.(328-330)AAG>GAG		RAR-related orphan receptor B							69.0	64.0	66.0					9																	77257389		2203	4300	6503	SO:0001583	missense	6096				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:77257389A>G	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.328A>G	9.37:g.77257389A>G	ENSP00000379507:p.Lys110Glu					RORB_uc004ajh.2_Missense_Mutation_p.K99E	p.K110E	NM_006914	NP_008845	Q92753	RORB_HUMAN			4	377	+			110			Hinge (Potential).		Q8WX73	Missense_Mutation	SNP	ENST00000396204.2	37	c.328A>G		.	.	.	.	.	.	.	.	.	.	A	24.8	4.566918	0.86439	.	.	ENSG00000198963	ENST00000376896;ENST00000396204	D;D	0.94280	-3.37;-3.39	5.63	5.63	0.86233	.	0.041393	0.85682	D	0.000000	D	0.95990	0.8694	M	0.83953	2.67	0.80722	D	1	D;P	0.55172	0.97;0.645	P;P	0.57960	0.83;0.468	D	0.95557	0.8626	10	0.40728	T	0.16	.	15.5434	0.76074	1.0:0.0:0.0:0.0	.	110;99	Q92753;Q58EY0	RORB_HUMAN;.	E	99;110	ENSP00000366093:K99E;ENSP00000379507:K110E	ENSP00000366093:K99E	K	+	1	0	RORB	76447209	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.145000	0.66743	0.533000	0.62120	AAG		0.557	RORB-201	KNOWN	basic	protein_coding	protein_coding					7	37	0	0	0	0.00308	0	7	37		
NAA35	60560	broad.mit.edu	37	9	88635862	88635862	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr9:88635862G>T	ENST00000361671.5	+	22	2229	c.2096G>T	c.(2095-2097)gGa>gTa	p.G699V		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	699					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)		p.G699V(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						TTATTGGCAGGAGGACACAAA	0.313																																						uc004aoi.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|central_nervous_system(1)	3						c.(2095-2097)GGA>GTA		corneal wound healing-related protein							78.0	88.0	85.0					9																	88635862		2203	4300	6503	SO:0001583	missense	60560				smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		g.chr9:88635862G>T	AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"""N(alpha)-acetyltransferase subunits"""	24340	protein-coding gene	gene with protein product			"""MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"""	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.2096G>T	9.37:g.88635862G>T	ENSP00000354972:p.Gly699Val					NAA35_uc004aoj.3_Missense_Mutation_p.G699V	p.G699V	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN			22	2233	+			699					Q5VZE6|Q9H631|Q9H703	Missense_Mutation	SNP	ENST00000361671.5	37	c.2096G>T	CCDS6673.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867737	0.91587	.	.	ENSG00000135040	ENST00000361671	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.72661	0.3488	L	0.60455	1.87	0.80722	D	1	D	0.67145	0.996	P	0.57244	0.816	T	0.68496	-0.5393	9	0.29301	T	0.29	-14.2199	19.518	0.95171	0.0:0.0:1.0:0.0	.	699	Q5VZE5	NAA35_HUMAN	V	699	.	ENSP00000354972:G699V	G	+	2	0	NAA35	87825682	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.257000	0.95545	2.615000	0.88500	0.650000	0.86243	GGA		0.313	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1		NM_024635		3	27	1	0	2.56e-06	0.009096	2.81809e-06	3	27		
ECM2	1842	broad.mit.edu	37	9	95285103	95285103	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr9:95285103G>C	ENST00000344604.5	-	2	195	c.46C>G	c.(46-48)Caa>Gaa	p.Q16E	ECM2_ENST00000375540.1_Missense_Mutation_p.Q16E|ECM2_ENST00000444490.2_Missense_Mutation_p.Q16E|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	16					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.Q16E(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						AAGTCAGTTTGAAAAATGATA	0.338																																						uc004ash.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|skin(1)	2						c.(46-48)CAA>GAA		extracellular matrix protein 2 precursor							56.0	59.0	58.0					9																	95285103		2202	4300	6502	SO:0001583	missense	1842				cell-matrix adhesion		integrin binding	g.chr9:95285103G>C	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.46C>G	9.37:g.95285103G>C	ENSP00000344758:p.Gln16Glu					CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Missense_Mutation_p.Q16E|ECM2_uc011lty.1_Missense_Mutation_p.Q16E|ECM2_uc004asg.2_Missense_Mutation_p.Q16E|ECM2_uc011ltz.1_Missense_Mutation_p.Q16E|ECM2_uc004asi.2_Missense_Mutation_p.Q16E	p.Q16E	NM_001393	NP_001384	O94769	ECM2_HUMAN			2	111	-			16					B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	ENST00000344604.5	37	c.46C>G	CCDS6698.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222937	0.39300	.	.	ENSG00000106823	ENST00000444490;ENST00000344604;ENST00000375540;ENST00000395534	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	4.49	3.59	0.41128	.	0.975684	0.08394	N	0.952465	T	0.20536	0.0494	L	0.32530	0.975	0.22754	N	0.998771	B;B;B;B	0.33694	0.421;0.118;0.118;0.187	B;B;B;B	0.28011	0.054;0.039;0.039;0.085	T	0.18304	-1.0341	10	0.87932	D	0	.	3.5197	0.07737	0.2181:0.2324:0.5494:0.0	.	16;16;16;16	Q5T9F3;O94769;B4DK93;O94769-2	.;ECM2_HUMAN;.;.	E	16	ENSP00000393971:Q16E;ENSP00000344758:Q16E;ENSP00000364690:Q16E;ENSP00000378905:Q16E	ENSP00000344758:Q16E	Q	-	1	0	ECM2	94324924	0.763000	0.28462	0.974000	0.42286	0.992000	0.81027	1.142000	0.31540	2.515000	0.84797	0.650000	0.86243	CAA		0.338	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1		NM_001393		21	18	0	0	0	0.010504	0	21	18		
TNFSF8	944	broad.mit.edu	37	9	117692469	117692469	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr9:117692469A>C	ENST00000223795.2	-	1	228	c.115T>G	c.(115-117)Ttc>Gtc	p.F39V		NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	39					apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)	p.F39V(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GTCAAATAGAAATAGCTGCGG	0.592																																						uc004bji.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(3)|skin(2)|ovary(1)	6						c.(115-117)TTC>GTC		tumor necrosis factor (ligand) superfamily,							88.0	87.0	87.0					9																	117692469		2203	4300	6503	SO:0001583	missense	944				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr9:117692469A>C	L09753	CCDS6810.1, CCDS75884.1	9q33	2008-02-05			ENSG00000106952	ENSG00000106952		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11938	protein-coding gene	gene with protein product		603875		CD30LG		8391931, 9349718	Standard	NM_001244		Approved	CD153	uc004bji.2	P32971	OTTHUMG00000021025	ENST00000223795.2:c.115T>G	9.37:g.117692469A>C	ENSP00000223795:p.Phe39Val						p.F39V	NM_001244	NP_001235	P32971	TNFL8_HUMAN			1	302	-			39			Helical; Signal-anchor for type II membrane protein; (Potential).		O43404	Missense_Mutation	SNP	ENST00000223795.2	37	c.115T>G	CCDS6810.1	.	.	.	.	.	.	.	.	.	.	A	10.86	1.469879	0.26423	.	.	ENSG00000106952	ENST00000223795	.	.	.	5.36	3.0	0.34707	.	0.314743	0.27486	N	0.019156	T	0.20901	0.0503	N	0.24115	0.695	0.24535	N	0.994096	P	0.37061	0.58	B	0.32211	0.142	T	0.10200	-1.0640	9	0.66056	D	0.02	-12.0567	7.7815	0.29068	0.8337:0.0:0.1663:0.0	.	39	P32971	TNFL8_HUMAN	V	39	.	ENSP00000223795:F39V	F	-	1	0	TNFSF8	116732290	0.993000	0.37304	0.167000	0.22817	0.257000	0.26127	2.749000	0.47492	0.343000	0.23821	0.445000	0.29226	TTC		0.592	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055464.1				6	65	0	0	0	0.001984	0	6	65		
GARNL3	84253	broad.mit.edu	37	9	130119519	130119519	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr9:130119519C>A	ENST00000373387.4	+	21	2309	c.1957C>A	c.(1957-1959)Ccc>Acc	p.P653T	GARNL3_ENST00000314904.5_Missense_Mutation_p.P653T|GARNL3_ENST00000435213.2_Missense_Mutation_p.P631T|GARNL3_ENST00000496711.1_3'UTR	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	653	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)	p.P635T(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GTCTGACTCTCCCATGGTGAT	0.527																																						uc011mae.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1957-1959)CCC>ACC		GTPase activating Rap/RanGAP domain-like 3							149.0	124.0	133.0					9																	130119519		2203	4300	6503	SO:0001583	missense	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130119519C>A	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.1957C>A	9.37:g.130119519C>A	ENSP00000362485:p.Pro653Thr					GARNL3_uc011mad.1_Missense_Mutation_p.P631T|GARNL3_uc010mxi.2_5'UTR	p.P653T	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN			21	2358	+			653			CNH.		B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	c.1957C>A	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995150	0.54147	.	.	ENSG00000136895	ENST00000435213;ENST00000314904;ENST00000373387	T;T;T	0.05258	3.47;3.47;3.47	5.4	5.4	0.78164	Citron-like (2);	0.000000	0.85682	D	0.000000	T	0.24774	0.0601	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.75020	0.978;0.985	T	0.00174	-1.1956	9	.	.	.	.	17.7535	0.88442	0.0:1.0:0.0:0.0	.	653;631	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	T	631;653;653	ENSP00000396205:P631T;ENSP00000313970:P653T;ENSP00000362485:P653T	.	P	+	1	0	GARNL3	129159340	1.000000	0.71417	0.872000	0.34217	0.135000	0.20990	7.445000	0.80570	2.548000	0.85928	0.655000	0.94253	CCC		0.527	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3		NM_032293		15	28	1	0	1.33834e-09	0.007413	1.54482e-09	15	28		
PPP1R26	9858	broad.mit.edu	37	9	138379116	138379116	+	Silent	SNP	C	C	T	rs574733883		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr9:138379116C>T	ENST00000356818.2	+	4	3309	c.2760C>T	c.(2758-2760)ttC>ttT	p.F920F	PPP1R26_ENST00000401470.3_Silent_p.F920F|PPP1R26_ENST00000604351.1_Silent_p.F920F|PPP1R26_ENST00000605660.1_Silent_p.F920F|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Silent_p.F920F	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	920					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)	p.F920F(1)									CTGGTCTGTTCAGCCAGGGCG	0.701																																						uc004cfr.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(2758-2760)TTC>TTT		1A6/DRIM (down-regulated in metastasis)							34.0	41.0	39.0					9																	138379116		2047	4011	6058	SO:0001819	synonymous_variant	9858					nucleolus	protein binding	g.chr9:138379116C>T	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.2760C>T	9.37:g.138379116C>T							p.F920F	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)	4	3309	+			920					Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	ENST00000356818.2	37	c.2760C>T	CCDS6988.1																																																																																				0.701	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1		NM_014811		27	68	0	0	0	0.004656	0	27	68		
CCNB3	85417	broad.mit.edu	37	X	50094645	50094645	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chrX:50094645G>T	ENST00000376042.1	+	13	4429	c.4131G>T	c.(4129-4131)atG>atT	p.M1377I	CCNB3_ENST00000276014.7_Missense_Mutation_p.M1377I|CCNB3_ENST00000348603.2_Missense_Mutation_p.M273I|CCNB3_ENST00000376038.1_Missense_Mutation_p.M273I			Q8WWL7	CCNB3_HUMAN	cyclin B3	1377					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.M1377I(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CCTTGGATATGTTGAAGCTGG	0.473																																						uc004dox.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(4129-4131)ATG>ATT		cyclin B3 isoform 3							116.0	102.0	107.0					X																	50094645		2203	4300	6503	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50094645G>T	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.4131G>T	X.37:g.50094645G>T	ENSP00000365210:p.Met1377Ile					CCNB3_uc004doy.2_Missense_Mutation_p.M1377I|CCNB3_uc004doz.2_Missense_Mutation_p.M273I|CCNB3_uc010njq.2_Missense_Mutation_p.M269I|CCNB3_uc004dpa.2_Missense_Mutation_p.M216I	p.M1377I	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			13	4429	+	Ovarian(276;0.236)		1377					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.4131G>T	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	2.580	-0.297677	0.05532	.	.	ENSG00000147082	ENST00000376042;ENST00000376038;ENST00000348603;ENST00000276014	T;T;T;T	0.28666	2.26;1.6;1.6;2.26	5.17	-2.08	0.07254	Cyclin-like (2);	0.925137	0.09211	N	0.833268	T	0.20088	0.0483	L	0.27053	0.805	0.09310	N	1	B;B;B	0.14805	0.011;0.003;0.011	B;B;B	0.19148	0.024;0.007;0.024	T	0.31364	-0.9946	9	.	.	.	.	11.0385	0.47816	0.496:0.0:0.504:0.0	.	1377;273;1377	A8K8T9;Q8WWL7-2;Q8WWL7	.;.;CCNB3_HUMAN	I	1377;273;273;1377	ENSP00000365210:M1377I;ENSP00000365206:M273I;ENSP00000338682:M273I;ENSP00000276014:M1377I	.	M	+	3	0	CCNB3	50111385	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	0.624000	0.24462	-1.013000	0.03383	-0.344000	0.07964	ATG		0.473	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1				7	12	1	0	3.09899e-07	0.004482	3.46812e-07	7	12		
TGIF2LX	90316	broad.mit.edu	37	X	89177393	89177393	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chrX:89177393T>A	ENST00000561129.2	+	1	439	c.309T>A	c.(307-309)aaT>aaA	p.N103K	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.N103K			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	103					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.N103K(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						GGTTTATCAATGCTCGCAGAC	0.473																																						uc004efe.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(307-309)AAT>AAA		TGFB-induced factor homeobox 2-like, X-linked							179.0	158.0	165.0					X																	89177393		2203	4300	6503	SO:0001583	missense	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177393T>A	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.309T>A	X.37:g.89177393T>A	ENSP00000453704:p.Asn103Lys						p.N103K	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			2	358	+			103			Homeobox; TALE-type.		Q5JRM9|Q8TD48	Missense_Mutation	SNP	ENST00000561129.2	37	c.309T>A	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.795661	0.50208	.	.	ENSG00000153779	ENST00000283891	D	0.95821	-3.82	3.08	-0.966	0.10320	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.229786	0.22348	N	0.061249	D	0.96595	0.8889	H	0.97023	3.925	0.28321	N	0.922256	P	0.46784	0.884	P	0.50490	0.642	D	0.92408	0.5935	9	.	.	.	-14.9257	3.0475	0.06158	0.1855:0.2408:0.0:0.5737	.	103	Q8IUE1	TF2LX_HUMAN	K	103	ENSP00000355119:N103K	.	N	+	3	2	TGIF2LX	89064049	0.488000	0.25996	0.001000	0.08648	0.266000	0.26442	-0.669000	0.05262	-0.286000	0.09076	0.417000	0.27973	AAT		0.473	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2		NM_138960		23	88	0	0	0	0.014323	0	23	88		
COL4A6	1288	broad.mit.edu	37	X	107413848	107413848	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chrX:107413848C>T	ENST00000372216.4	-	35	3587	c.3487G>A	c.(3487-3489)Gga>Aga	p.G1163R	COL4A6_ENST00000334504.7_Missense_Mutation_p.G1162R|COL4A6_ENST00000538570.1_Missense_Mutation_p.G1162R|COL4A6_ENST00000394872.2_Missense_Mutation_p.G1163R|COL4A6_ENST00000545689.1_Missense_Mutation_p.G1162R	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1163	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.G1162R(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCTTTGGGTCCTATTAATCCG	0.498									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	uc004enw.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)|urinary_tract(1)|large_intestine(1)	8						c.(3487-3489)GGA>AGA		type IV alpha 6 collagen isoform A precursor							159.0	165.0	163.0					X																	107413848		2203	4300	6503	SO:0001583	missense	1288	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107413848C>T	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3487G>A	X.37:g.107413848C>T	ENSP00000361290:p.Gly1163Arg					COL4A6_uc004env.3_Missense_Mutation_p.G1162R|COL4A6_uc011msn.1_Missense_Mutation_p.G1162R|COL4A6_uc010npk.2_Missense_Mutation_p.G1162R	p.G1163R	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			35	3590	-			1163			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.3487G>A	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	8.809	0.934846	0.18206	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29;-6.29	5.08	4.21	0.49690	.	0.000000	0.41396	D	0.000893	D	0.99775	0.9907	H	0.98866	4.355	0.22754	N	0.998779	P;D;P;P	0.63046	0.859;0.992;0.884;0.859	B;D;P;B	0.63381	0.435;0.914;0.571;0.435	D	0.97473	1.0042	10	0.87932	D	0	.	14.2827	0.66224	0.0:0.8537:0.1462:0.0	.	1162;1162;1163;1162	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	R	1163;1162;1163;1162;1162;1162	ENSP00000361290:G1163R;ENSP00000334733:G1162R;ENSP00000378340:G1163R;ENSP00000443707:G1162R;ENSP00000445236:G1162R	ENSP00000334733:G1162R	G	-	1	0	COL4A6	107300504	1.000000	0.71417	0.018000	0.16275	0.151000	0.21798	5.942000	0.70203	1.198000	0.43158	-0.229000	0.12294	GGA		0.498	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2				36	56	0	0	0	0.009718	0	36	56		
COL4A5	1287	broad.mit.edu	37	X	107850090	107850090	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chrX:107850090G>A	ENST00000361603.2	+	29	2607	c.2363G>A	c.(2362-2364)cGc>cAc	p.R788H	COL4A5_ENST00000328300.6_Missense_Mutation_p.R788H	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	788	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.R788H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCTCCAGGACGCACTGGCTTA	0.517									Alport syndrome with Diffuse Leiomyomatosis																													uc004enz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|central_nervous_system(1)	4						c.(2362-2364)CGC>CAC		type IV collagen alpha 5 isoform 2 precursor							103.0	92.0	96.0					X																	107850090		2203	4300	6503	SO:0001583	missense	1287	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107850090G>A	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.2363G>A	X.37:g.107850090G>A	ENSP00000354505:p.Arg788His					COL4A5_uc011mso.1_Missense_Mutation_p.R788H|COL4A5_uc004eob.1_Missense_Mutation_p.R396H	p.R788H	NM_033380	NP_203699	P29400	CO4A5_HUMAN			29	2565	+			788			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.2363G>A	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539154	0.27475	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.96992	-4.2;-4.2	5.75	-5.23	0.02798	.	1.050460	0.07395	N	0.889827	D	0.90607	0.7055	L	0.35288	1.05	0.30709	N	0.74951	B;B;B	0.14012	0.002;0.009;0.002	B;B;B	0.12156	0.007;0.007;0.007	T	0.79640	-0.1719	10	0.35671	T	0.21	.	5.1749	0.15129	0.2459:0.0983:0.5565:0.0994	.	788;396;788	E7EVY4;Q49AM6;P29400	.;.;CO4A5_HUMAN	H	788	ENSP00000331902:R788H;ENSP00000354505:R788H	ENSP00000331902:R788H	R	+	2	0	COL4A5	107736746	0.033000	0.19621	0.010000	0.14722	0.843000	0.47879	0.235000	0.17948	-0.621000	0.05633	0.600000	0.82982	CGC		0.517	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2				19	17	0	0	0	0.008871	0	19	17		
MOSPD1	56180	broad.mit.edu	37	X	134033531	134033531	+	De_novo_Start_OutOfFrame	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chrX:134033531G>C	ENST00000370783.3	-	0	119				MOSPD1_ENST00000370777.1_De_novo_Start_OutOfFrame|MOSPD1_ENST00000491609.1_5'UTR|MOSPD1_ENST00000370779.4_De_novo_Start_OutOfFrame	NM_019556.1	NP_062456.1	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	9	Acute lymphoblastic leukemia(192;0.000127)					ACTTTTCTTAGATTCAGTTAA	0.363																																						uc004eyb.2		NaN																	0				ovary(1)|breast(1)	2						c.(-69--65)ATCTA>ATGTA		motile sperm domain containing 1																																						56180				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	integral to membrane|nucleus|perinuclear region of cytoplasm	structural molecule activity	g.chrX:134033531G>C	Z83826	CCDS14645.1	Xq26.3	2008-02-05			ENSG00000101928	ENSG00000101928			25235	protein-coding gene	gene with protein product		300674				15533722	Standard	XM_005262446		Approved	dJ473B4	uc004eyb.3	Q9UJG1	OTTHUMG00000035315	ENST00000370783.3:c.-68C>G	X.37:g.134033531G>C						MOSPD1_uc004eya.2_Translation_Start_Site|MOSPD1_uc010nrv.2_RNA|MOSPD1_uc011mvr.1_Translation_Start_Site		NM_019556	NP_062456	Q9UJG1	MSPD1_HUMAN			2	120	-	Acute lymphoblastic leukemia(192;0.000127)							B2RE62|D3DTG5|Q5H9C5|Q5H9C7	Translation_Start_Site	SNP	ENST00000370783.3	37	c.-67C>G	CCDS14645.1																																																																																				0.363	MOSPD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000085439.1		NM_019556		12	10	0	0	0	0.013537	0	12	10		
SPANXD	64648	broad.mit.edu	37	X	140785779	140785779	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chrX:140785779T>C	ENST00000370515.3	-	2	470	c.137A>G	c.(136-138)gAg>gGg	p.E46G		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	Q9BXN6	SPNXD_HUMAN	SPANX family, member D	46						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E46G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					GGTCGAGGACTCAGATGTTTT	0.493																																						uc004fbq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(136-138)GAG>GGG		SPANX family, member E							256.0	180.0	206.0					X																	140785779		2199	4274	6473	SO:0001583	missense	171489					cytoplasm|nucleus		g.chrX:140785779T>C	AJ457791	CCDS14675.1	Xq27.2	2014-06-19			ENSG00000196406	ENSG00000196406			14332	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 4"""	300670, 300671	"""SPANX family, member E"""	SPANXE			Standard	NM_032417		Approved	CT11.4		Q9BXN6	OTTHUMG00000022563	ENST00000370515.3:c.137A>G	X.37:g.140785779T>C	ENSP00000359546:p.Glu46Gly						p.E46G	NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN			2	230	-	Acute lymphoblastic leukemia(192;7.65e-05)		46					Q5JWI1	Missense_Mutation	SNP	ENST00000370515.3	37	c.137A>G	CCDS14675.1	.	.	.	.	.	.	.	.	.	.	N	9.599	1.128263	0.21041	.	.	ENSG00000196406	ENST00000370515	T	0.10960	2.82	.	.	.	.	.	.	.	.	T	0.11239	0.0274	.	.	.	0.09310	N	1	P	0.42078	0.77	B	0.43508	0.422	T	0.20107	-1.0285	6	0.87932	D	0	.	.	.	.	.	46	Q9BXN6	SPNXD_HUMAN	G	46	ENSP00000359546:E46G	ENSP00000359546:E46G	E	-	2	0	SPANXD	140613445	0.011000	0.17503	0.001000	0.08648	0.010000	0.07245	0.065000	0.14466	0.358000	0.24211	0.058000	0.15282	GAG		0.493	SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058598.1				7	88	0	0	0	0.001984	0	7	88		
MAGEC3	139081	broad.mit.edu	37	X	140969237	140969237	+	Silent	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chrX:140969237G>T	ENST00000298296.1	+	4	564	c.564G>T	c.(562-564)gtG>gtT	p.V188V	MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000448920.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	188	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.V188V(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ATGAAAAGGTGGACAAGTTGG	0.453																																						uc011mwp.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(2)|central_nervous_system(1)	3						c.(562-564)GTG>GTT		melanoma antigen family C, 3 isoform 1							127.0	123.0	124.0					X																	140969237		2203	4300	6503	SO:0001819	synonymous_variant	139081							g.chrX:140969237G>T	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.564G>T	X.37:g.140969237G>T							p.V188V	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			4	564	+	Acute lymphoblastic leukemia(192;6.56e-05)		188			MAGE 1.		Q3SYA7|Q5JZ43|Q9BZ80	Silent	SNP	ENST00000298296.1	37	c.564G>T	CCDS14676.1																																																																																				0.453	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1		NM_138702		43	26	1	0	1.32136e-16	0.00874	1.59352e-16	43	26		
HMCN1	83872	broad.mit.edu	37	1	186023082	186023082	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:186023082delG	ENST00000271588.4	+	44	7055	c.6826delG	c.(6826-6828)gggfs	p.G2276fs	HMCN1_ENST00000367492.2_Frame_Shift_Del_p.G2276fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2276	Ig-like C2-type 20.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAATGTTGCTGGGACTGCAAA	0.398																																						uc001grq.1		NaN																	0				ovary(22)|skin(1)	23						c.(6826-6828)GGGfs		hemicentin 1 precursor							109.0	108.0	108.0					1																	186023082		2203	4300	6503	SO:0001589	frameshift_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186023082delG	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6826delG	1.37:g.186023082delG	ENSP00000271588:p.Gly2276fs						p.G2276fs	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			44	7055	+			2276			Ig-like C2-type 20.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Frame_Shift_Del	DEL	ENST00000271588.4	37	c.6826delG	CCDS30956.1																																																																																				0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935		11	93	NaN	NaN	NaN	NaN	NaN	11	93	---	---
FAM181A	90050	broad.mit.edu	37	14	94391663	94391664	+	Frame_Shift_Ins	INS	-	-	A	rs202036657		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:94391663_94391664insA	ENST00000267594.5	+	2	353_354	c.46_47insA	c.(46-48)gccfs	p.A16fs	FAM181A-AS1_ENST00000554742.1_RNA|FAM181A_ENST00000557719.1_Intron|FAM181A_ENST00000556222.1_5'Flank|FAM181A_ENST00000557000.2_5'Flank	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	16										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GAATGATGCAGCCCCCACAAAT	0.53																																						uc001ybz.1		NaN																	0					0						c.(46-48)GCCfs		hypothetical protein LOC90050																																				SO:0001589	frameshift_variant	90050							g.chr14:94391663_94391664insA	BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 152"""	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	Exception_encountered	14.37:g.94391663_94391664insA	ENSP00000267594:p.Ala16fs					C14orf86_uc001yby.2_Intron|FAM181A_uc010aus.1_5'Flank|FAM181A_uc001yca.1_5'Flank	p.A16fs	NM_138344	NP_612353	Q8N9Y4	F181A_HUMAN			2	353_354	+			16					B2RD39|Q96GY1	Frame_Shift_Ins	INS	ENST00000267594.5	37	c.46_47insA	CCDS9914.1																																																																																				0.530	FAM181A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412840.1		NM_138344		12	35	NaN	NaN	NaN	NaN	NaN	12	35	---	---
CCPG1	9236	broad.mit.edu	37	15	55652875	55652876	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:55652875_55652876insT	ENST00000310958.6	-	8	1393_1394	c.1095_1096insA	c.(1093-1098)aaacacfs	p.H366fs	CCPG1_ENST00000442196.3_Frame_Shift_Ins_p.H366fs|CCPG1_ENST00000569205.1_Frame_Shift_Ins_p.H366fs|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Intron	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	366					cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		AGAAAGCTGTGTTTTTTCTGCT	0.386																																						uc002acv.1		NaN																	0				ovary(1)	1						c.(1093-1098)AAACACfs		cell cycle progression 1 isoform 2																																				SO:0001589	frameshift_variant	9236				cell cycle	integral to membrane		g.chr15:55652875_55652876insT	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.1096dupA	15.37:g.55652881_55652881dupT	ENSP00000311656:p.His366fs					CCPG1_uc002acy.2_Frame_Shift_Ins_p.K365fs|CCPG1_uc002acu.1_Frame_Shift_Ins_p.K221fs|CCPG1_uc002acw.1_Frame_Shift_Ins_p.K90fs|CCPG1_uc002acx.2_Intron|CCPG1_uc010bfk.1_Frame_Shift_Ins_p.K365fs|CCPG1_uc002acz.1_Frame_Shift_Ins_p.K365fs	p.K365fs	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	8	1260_1261	-			365_366			Potential.|Lumenal (Potential).		A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Frame_Shift_Ins	INS	ENST00000310958.6	37	c.1095_1096insA	CCDS42039.1																																																																																				0.386	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1		NM_004748		23	100	NaN	NaN	NaN	NaN	NaN	23	100	---	---
KANSL3	55683	broad.mit.edu	37	2	97275285	97275287	+	In_Frame_Del	DEL	TTT	TTT	-			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:97275285_97275287delTTT	ENST00000431828.1	-	12	1408_1410	c.1332_1334delAAA	c.(1330-1335)gcaaag>gcg	p.K447del	KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_In_Frame_Del_p.K241del|KANSL3_ENST00000441706.2_In_Frame_Del_p.K360del|KANSL3_ENST00000599854.1_In_Frame_Del_p.K360del			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	447					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TGATTTCTTCTTTGCTTTGCTTA	0.384																																						uc002swn.3		NaN																	0					0						c.(1330-1335)GCAAAG>GCG		hypothetical protein LOC55683 isoform a																																				SO:0001651	inframe_deletion	55683							g.chr2:97275285_97275287delTTT	BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1332_1334delAAA	2.37:g.97275285_97275287delTTT	ENSP00000396749:p.Lys447del					KIAA1310_uc002swh.3_In_Frame_Del_p.K335del|KIAA1310_uc002swi.3_In_Frame_Del_p.K348del|KIAA1310_uc002swj.3_RNA|KIAA1310_uc002swk.3_In_Frame_Del_p.K360del|KIAA1310_uc010fhz.2_In_Frame_Del_p.K241del|KIAA1310_uc002swl.3_In_Frame_Del_p.K348del|KIAA1310_uc002swm.3_RNA|KIAA1310_uc010yur.1_In_Frame_Del_p.K241del|KIAA1310_uc002swp.1_In_Frame_Del_p.K348del|KIAA1310_uc002swq.1_In_Frame_Del_p.K219del|KIAA1310_uc010fhy.1_In_Frame_Del_p.K348del	p.K447del	NM_001115016	NP_001108488	Q9P2N6	K1310_HUMAN			12	1478_1480	-			447					A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	In_Frame_Del	DEL	ENST00000431828.1	37	c.1332_1334delAAA	CCDS46361.1																																																																																				0.384	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2		NM_017991		9	322	NaN	NaN	NaN	NaN	NaN	9	322	---	---
IRS1	3667	broad.mit.edu	37	2	227660807	227660808	+	In_Frame_Ins	INS	-	-	GCT			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:227660807_227660808insGCT	ENST00000305123.5	-	1	3667_3668	c.2647_2648insAGC	c.(2647-2649)ccc>cAGCcc	p.882_883insQ	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GTGCAGCAAGGgctgctgctgc	0.624																																						uc002voh.3		NaN																	0				lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12						c.(2647-2649)CCC>CAGCCC		insulin receptor substrate 1																																				SO:0001652	inframe_insertion	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660807_227660808insGCT		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2645_2647dupAGC	2.37:g.227660814_227660816dupGCT	ENSP00000304895:p.Gln882_Gln882dup						p.882_883insQ	NM_005544	NP_005535	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	2699_2700	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	882_883						In_Frame_Ins	INS	ENST00000305123.5	37	c.2647_2648insAGC	CCDS2463.1																																																																																				0.624	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3		NM_005544		13	39	NaN	NaN	NaN	NaN	NaN	13	39	---	---
TACC3	10460	broad.mit.edu	37	4	1746465	1746472	+	Frame_Shift_Del	DEL	GGAGCAAG	GGAGCAAG	-			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:1746465_1746472delGGAGCAAG	ENST00000313288.4	+	15	2463_2470	c.2357_2364delGGAGCAAG	c.(2356-2364)cggagcaagfs	p.RSK786fs		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	786					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GCCCAGGTCCGGAGCAAGGCCCAGGCGG	0.673																																					Ovarian(120;482 2294 11894 35824)	uc003gdo.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2356-2364)CGGAGCAAGfs		transforming, acidic coiled-coil containing																																				SO:0001589	frameshift_variant	10460					centrosome		g.chr4:1746465_1746472delGGAGCAAG	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.2357_2364delGGAGCAAG	4.37:g.1746465_1746472delGGAGCAAG	ENSP00000326550:p.Arg786fs					TACC3_uc003gdp.2_Frame_Shift_Del_p.R426fs|TACC3_uc010ica.2_Frame_Shift_Del_p.R207fs	p.R786fs	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		15	2465_2472	+		Breast(71;0.212)|all_epithelial(65;0.241)	786_788			Potential.		Q2NKK4|Q3KQS5|Q9UMQ1	Frame_Shift_Del	DEL	ENST00000313288.4	37	c.2357_2364delGGAGCAAG	CCDS3352.1																																																																																				0.673	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2				7	28	NaN	NaN	NaN	NaN	NaN	7	28	---	---
THAP9	79725	broad.mit.edu	37	4	83839377	83839377	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:83839377delT	ENST00000302236.5	+	5	2063	c.2012delT	c.(2011-2013)cttfs	p.L671fs	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	671					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)			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)				GACTTGGCGCTTTGGACAGTT	0.393																																						uc003hnt.2		NaN																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	5						c.(2011-2013)CTTfs		THAP domain containing 9							104.0	103.0	103.0					4																	83839377		2203	4300	6503	SO:0001589	frameshift_variant	79725						DNA binding|metal ion binding	g.chr4:83839377delT	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.2012delT	4.37:g.83839377delT	ENSP00000305533:p.Leu671fs					THAP9_uc003hns.1_Frame_Shift_Del_p.L527fs|THAP9_uc003hnu.1_RNA|THAP9_uc003hnv.2_Frame_Shift_Del_p.L388fs	p.L671fs	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN			5	2131	+		Hepatocellular(203;0.114)	671					B3KRE2|Q59AC9	Frame_Shift_Del	DEL	ENST00000302236.5	37	c.2012delT	CCDS3598.1																																																																																				0.393	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1		NM_024672		13	105	NaN	NaN	NaN	NaN	NaN	13	105	---	---
SH3PXD2B	285590	broad.mit.edu	37	5	171765673	171765674	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:171765673_171765674insA	ENST00000311601.5	-	13	2605_2606	c.2435_2436insT	c.(2434-2436)ttgfs	p.L812fs	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	812					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	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)|SH2 domain binding (GO:0042169)	p.L812L(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCTGGCCCCCCAAAGAGTTGGA	0.609																																						uc003mbr.2		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(2434-2436)TTGfs		SH3 and PX domains 2B																																				SO:0001589	frameshift_variant	285590				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	g.chr5:171765673_171765674insA	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.2436dupT	5.37:g.171765676_171765676dupA	ENSP00000309714:p.Leu812fs						p.L812fs	NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		13	2606_2607	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	812					B6F0V2|Q9P2Q1	Frame_Shift_Ins	INS	ENST00000311601.5	37	c.2435_2436insT	CCDS34291.1																																																																																				0.609	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1		NM_017963		17	15	NaN	NaN	NaN	NaN	NaN	17	15	---	---
OSBPL3	26031	broad.mit.edu	37	7	24849496	24849503	+	Frame_Shift_Del	DEL	CCGATGAA	CCGATGAA	-	rs371721619		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr7:24849496_24849503delCCGATGAA	ENST00000313367.2	-	20	2691_2698	c.2240_2247delTTCATCGG	c.(2239-2247)gttcatcggfs	p.VHR747fs	OSBPL3_ENST00000409069.1_Frame_Shift_Del_p.VHR680fs|OSBPL3_ENST00000352860.1_Frame_Shift_Del_p.VHR716fs|OSBPL3_ENST00000353930.1_Frame_Shift_Del_p.VHR711fs|OSBPL3_ENST00000431825.2_Frame_Shift_Del_p.VHR680fs|OSBPL3_ENST00000396429.1_Frame_Shift_Del_p.VHR711fs|OSBPL3_ENST00000396431.1_Frame_Shift_Del_p.VHR716fs|OSBPL3_ENST00000487020.1_5'UTR	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	747					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TCCCAAACAGCCGATGAACCGCTTTTCC	0.5																																						uc003sxf.2		NaN																	0				skin(1)	1						c.(2239-2247)GTTCATCGGfs		oxysterol-binding protein-like protein 3 isoform																																				SO:0001589	frameshift_variant	26031				lipid transport		lipid binding|protein binding	g.chr7:24849496_24849503delCCGATGAA	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.2240_2247delTTCATCGG	7.37:g.24849496_24849503delCCGATGAA	ENSP00000315410:p.Val747fs					OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Frame_Shift_Del_p.V711fs|OSBPL3_uc003sxh.2_Frame_Shift_Del_p.V716fs|OSBPL3_uc003sxi.2_Frame_Shift_Del_p.V680fs	p.V747fs	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN			20	2645_2652	-			747_749					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Frame_Shift_Del	DEL	ENST00000313367.2	37	c.2240_2247delTTCATCGG	CCDS5390.1																																																																																				0.500	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2				68	160	NaN	NaN	NaN	NaN	NaN	68	160	---	---
RAD54B	25788	broad.mit.edu	37	8	95392597	95392609	+	Frame_Shift_Del	DEL	TGTTCAAGGTTTG	TGTTCAAGGTTTG	-	rs76782918		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:95392597_95392609delTGTTCAAGGTTTG	ENST00000336148.5	-	12	2135_2147	c.2011_2023delCAAACCTTGAACA	c.(2011-2025)caaaccttgaacattfs	p.QTLNI671fs		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	671	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TCTTGTAAAATGTTCAAGGTTTGTGTATAGTTG	0.347								Direct reversal of damage;Homologous recombination																														uc003ygk.2		NaN																	0				kidney(2)|lung(1)|skin(1)	4						c.(2011-2025)CAAACCTTGAACATTfs	Direct_reversal_of_damage|Homologous_recombination	RAD54 homolog B																																				SO:0001589	frameshift_variant	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95392597_95392609delTGTTCAAGGTTTG	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.2011_2023delCAAACCTTGAACA	8.37:g.95392597_95392609delTGTTCAAGGTTTG	ENSP00000336606:p.Gln671fs					RAD54B_uc010may.1_Frame_Shift_Del_p.Q478fs	p.Q671fs	NM_012415	NP_036547	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		12	2109_2121	-	Breast(36;4.5e-05)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment_28					F6WBS8	Frame_Shift_Del	DEL	ENST00000336148.5	37	c.2011_2023delCAAACCTTGAACA	CCDS6262.1																																																																																				0.347	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3		NM_012415		11	56	NaN	NaN	NaN	NaN	NaN	11	56	---	---
