#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_filter	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SPEN	23013	broad.mit.edu	37	1	16256690	16256690	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:16256690C>T	ENST00000375759.3	+	11	4159	c.3955C>T	c.(3955-3957)Cag>Tag	p.Q1319*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1319					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 of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.Q1319*(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CAGGAGAGAACAGATGGCAGA	0.383																																						uc001axk.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(3955-3957)CAG>TAG		spen homolog, transcriptional regulator							57.0	62.0	60.0					1																	16256690		2203	4300	6503	SO:0001587	stop_gained	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16256690C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.3955C>T	1.37:g.16256690C>T	ENSP00000364912:p.Gln1319*					SPEN_uc010obp.1_Nonsense_Mutation_p.Q1278*	p.Q1319*	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	4159	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	1319					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Nonsense_Mutation	SNP	ENST00000375759.3	37	c.3955C>T	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	42	9.558789	0.99204	.	.	ENSG00000065526	ENST00000375759	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-16.23	18.546	0.91047	0.0:1.0:0.0:0.0	.	.	.	.	X	1319	.	ENSP00000364912:Q1319X	Q	+	1	0	SPEN	16129277	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.142000	0.64820	2.626000	0.88956	0.557000	0.71058	CAG		PASS	0.383	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		11	40	11	40	---	---	---	---
HSPG2	3339	broad.mit.edu	37	1	22166424	22166424	+	Silent	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:22166424C>T	ENST00000374695.3	-	72	9679	c.9600G>A	c.(9598-9600)gtG>gtA	p.V3200V		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3200	Ig-like C2-type 17.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.V3200V(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TGTCCACGATCACCTCCACCT	0.582																																						uc001bfj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(9598-9600)GTG>GTA		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						172.0	162.0	165.0					1																	22166424		2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22166424C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.9600G>A	1.37:g.22166424C>T						HSPG2_uc009vqd.2_Silent_p.V3201V	p.V3200V	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	72	9640	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3200			Ig-like C2-type 17.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.9600G>A	CCDS30625.1																																																																																				PASS	0.582	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		34	64	34	64	---	---	---	---
TCEB3	6924	broad.mit.edu	37	1	24083468	24083468	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:24083468G>T	ENST00000418390.2	+	10	2459	c.2188G>T	c.(2188-2190)Gga>Tga	p.G730*	TCEB3_ENST00000609199.1_Nonsense_Mutation_p.G704*	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	730					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.G704*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GTACCCCATGGGAAGCAGCCA	0.587																																						uc001bho.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(2188-2190)GGA>TGA		elongin A							189.0	186.0	187.0					1																	24083468		2203	4300	6503	SO:0001587	stop_gained	6924				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	g.chr1:24083468G>T	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.2188G>T	1.37:g.24083468G>T	ENSP00000395574:p.Gly730*						p.G730*	NM_003198	NP_003189	Q14241	ELOA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	10	2248	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	730					B2R7Q8|Q8IXH1	Nonsense_Mutation	SNP	ENST00000418390.2	37	c.2188G>T	CCDS239.2	.	.	.	.	.	.	.	.	.	.	G	37	6.461331	0.97585	.	.	ENSG00000011007	ENST00000418390	.	.	.	5.59	3.39	0.38822	.	0.217786	0.31427	N	0.007670	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-14.222	9.448	0.38710	0.2726:0.0:0.7274:0.0	.	.	.	.	X	730	.	ENSP00000395574:G730X	G	+	1	0	TCEB3	23956055	0.952000	0.32445	0.871000	0.34182	0.337000	0.28794	1.659000	0.37387	1.374000	0.46228	0.462000	0.41574	GGA		PASS	0.587	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		5	107	5	107	---	---	---	---
TMEM54	113452	broad.mit.edu	37	1	33363913	33363913	+	Silent	SNP	C	C	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:33363913C>G	ENST00000373463.3	-	2	143	c.24G>C	c.(22-24)ctG>ctC	p.L8L	TMEM54_ENST00000475208.1_5'UTR|TMEM54_ENST00000329151.5_Silent_p.L8L	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	8						integral component of membrane (GO:0016021)		p.L8L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CGCCCACACTCAGGCCTCCTG	0.617																																						uc001bwi.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(22-24)CTG>CTC		transmembrane protein 54							60.0	56.0	58.0					1																	33363913		2203	4300	6503	SO:0001819	synonymous_variant	113452					integral to membrane		g.chr1:33363913C>G		CCDS371.1	1p35-p34	2008-02-05			ENSG00000121900	ENSG00000121900			24143	protein-coding gene	gene with protein product						9500206	Standard	NM_033504		Approved	CAC-1	uc001bwi.1	Q969K7	OTTHUMG00000004016	ENST00000373463.3:c.24G>C	1.37:g.33363913C>G						TMEM54_uc001bwj.1_Silent_p.L8L|TMEM54_uc001bwk.1_Silent_p.L8L	p.L8L	NM_033504	NP_277039	Q969K7	TMM54_HUMAN			2	138	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	8					Q6UV18|Q8IVD0|Q9UM12	Silent	SNP	ENST00000373463.3	37	c.24G>C	CCDS371.1																																																																																				PASS	0.617	TMEM54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011474.1	NM_033504		6	27	6	27	---	---	---	---
EPHA10	284656	broad.mit.edu	37	1	38197177	38197177	+	Silent	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:38197177G>A	ENST00000373048.4	-	7	1568	c.1569C>T	c.(1567-1569)acC>acT	p.T523T	EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000330210.7_Silent_p.T18T|EPHA10_ENST00000540011.1_Silent_p.T18T|EPHA10_ENST00000427468.2_Silent_p.T523T	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	523	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)	p.T524T(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGACGTAGCGGGTAGCCGGCT	0.587																																						uc009vvi.2																			1	Substitution - coding silent(1)		lung(1)	breast(4)|stomach(3)|lung(1)	8						c.(1567-1569)ACC>ACT		EPH receptor A10 isofom 3							103.0	105.0	105.0					1																	38197177		1923	4132	6055	SO:0001819	synonymous_variant	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38197177G>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1569C>T	1.37:g.38197177G>A						EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA	p.T523T	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			7	1655	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	523			Fibronectin type-III 2.|Extracellular (Potential).		A4FU89|J3KPB5|Q6NW42	Silent	SNP	ENST00000373048.4	37	c.1569C>T	CCDS41305.1																																																																																				PASS	0.587	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		26	46	26	46	---	---	---	---
PPT1	5538	broad.mit.edu	37	1	40555127	40555127	+	Missense_Mutation	SNP	C	C	T	rs201892691		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:40555127C>T	ENST00000433473.3	-	5	955	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	PPT1_ENST00000449045.2_Missense_Mutation_p.R61Q	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1	164					adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290)	p.R164Q(1)		endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGTGTTTTTCGGATGAAGTC	0.443													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18124	0.0		0.0	False		,,,				2504	0.0					uc001cfb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(490-492)CGA>CAA		palmitoyl-protein thioesterase 1 isoform 1							141.0	128.0	133.0					1																	40555127		2203	4300	6503	SO:0001583	missense	5538				brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity	g.chr1:40555127C>T	U44772	CCDS447.1, CCDS44119.1	1p32	2014-09-17	2008-07-31		ENSG00000131238	ENSG00000131238	3.1.2.22		9325	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 1, infantile"""	600722		PPT		7637805, 8325646	Standard	NM_000310		Approved	CLN1, INCL	uc001cfb.2	P50897	OTTHUMG00000004495	ENST00000433473.3:c.491G>A	1.37:g.40555127C>T	ENSP00000394863:p.Arg164Gln					PPT1_uc010ojf.1_Missense_Mutation_p.R114Q|PPT1_uc010ojg.1_Missense_Mutation_p.R61Q|PPT1_uc009vwa.2_RNA	p.R164Q	NM_000310	NP_000301	P50897	PPT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		5	723	-	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	164					B4DY24|Q6FGQ4	Missense_Mutation	SNP	ENST00000433473.3	37	c.491G>A	CCDS447.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	33	5.286528	0.95517	.	.	ENSG00000131238	ENST00000433473;ENST00000449045;ENST00000439754;ENST00000372779	D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41	4.82	4.82	0.62117	.	0.096565	0.64402	D	0.000001	D	0.98207	0.9407	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	0.986;0.977;1.0	P;P;D	0.83275	0.449;0.701;0.996	D	0.98107	1.0418	10	0.40728	T	0.16	-24.6415	16.6409	0.85098	0.0:1.0:0.0:0.0	.	61;114;164	P50897-2;B4DWU3;P50897	.;.;PPT1_HUMAN	Q	164;61;59;193	ENSP00000394863:R164Q;ENSP00000392293:R61Q;ENSP00000403207:R59Q;ENSP00000361865:R193Q	ENSP00000361865:R193Q	R	-	2	0	PPT1	40327714	1.000000	0.71417	0.997000	0.53966	0.936000	0.57629	6.932000	0.75869	2.495000	0.84180	0.650000	0.86243	CGA		PASS	0.443	PPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013126.2	NM_000310		5	65	5	65	---	---	---	---
BEND5	79656	broad.mit.edu	37	1	49224681	49224681	+	Silent	SNP	T	T	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:49224681T>C	ENST00000371833.3	-	3	722	c.636A>G	c.(634-636)gtA>gtG	p.V212V	AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_5'UTR|AGBL4_ENST00000371838.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	212						Golgi apparatus (GO:0005794)		p.V212V(1)|p.V43V(1)		large_intestine(5)|lung(2)|skin(1)	8						TGGCCTGTTGTACCAGCTGCC	0.612																																						uc001crx.3																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(634-636)GTA>GTG		BEN domain containing 5							105.0	95.0	98.0					1																	49224681		2203	4300	6503	SO:0001819	synonymous_variant	79656							g.chr1:49224681T>C	BC007932	CCDS552.2	1p33	2012-11-22	2008-10-03	2008-10-03	ENSG00000162373	ENSG00000162373		"""BEN domain containing"""	25668	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 165"""	C1orf165		12477932	Standard	NM_024603		Approved	FLJ11588	uc001crx.4	Q7L4P6	OTTHUMG00000008153	ENST00000371833.3:c.636A>G	1.37:g.49224681T>C						AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc001crv.1_Intron|AGBL4_uc010omy.1_Intron|BEND5_uc001crw.3_Silent_p.V43V	p.V212V	NM_024603	NP_078879	Q7L4P6	BEND5_HUMAN			3	680	-			212			Potential.		D3DQ27|Q96A62|Q9HAI3	Silent	SNP	ENST00000371833.3	37	c.636A>G	CCDS552.2																																																																																				PASS	0.612	BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022323.1	NM_024603		19	31	19	31	---	---	---	---
OMA1	115209	broad.mit.edu	37	1	58999665	58999665	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:58999665A>C	ENST00000371226.3	-	5	1084	c.971T>G	c.(970-972)cTt>cGt	p.L324R	OMA1_ENST00000358603.2_Missense_Mutation_p.L324R|DAB1_ENST00000485760.1_Intron|OMA1_ENST00000467063.1_5'Flank	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	324					cristae formation (GO:0042407)|diet induced thermogenesis (GO:0002024)|energy homeostasis (GO:0097009)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrial protein processing (GO:0034982)|negative regulation of mitochondrial fusion (GO:0010637)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.L324R(1)		NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					ATGGCCCAGAAGGAAAGAAAG	0.343																																						uc001cyy.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(970-972)CTT>CGT		OMA1 homolog, zinc metallopeptidase precursor							105.0	105.0	105.0					1																	58999665		2203	4300	6503	SO:0001583	missense	115209				proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity	g.chr1:58999665A>C	AK091101	CCDS608.1	1p32.2-p32.1	2013-05-03	2013-05-03		ENSG00000162600	ENSG00000162600			29661	protein-coding gene	gene with protein product	"""overlapping activity with M-AAA protease"", ""zinc metallopeptidase OMA1"""		"""OMA1 zinc metallopeptidase homolog (S. cerevisiae)"""			12477932	Standard	NM_145243		Approved	MPRP-1, YKR087C, ZMPOMA1, FLJ33782	uc001cyy.3	Q96E52	OTTHUMG00000010068	ENST00000371226.3:c.971T>G	1.37:g.58999665A>C	ENSP00000360270:p.Leu324Arg					DAB1_uc001cyt.1_Intron|OMA1_uc001cyx.1_Missense_Mutation_p.L324R|OMA1_uc009vzz.2_Missense_Mutation_p.L324R	p.L324R	NM_145243	NP_660286	Q96E52	OMA1_HUMAN			5	1059	-	all_cancers(7;6.54e-05)		324					D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	Missense_Mutation	SNP	ENST00000371226.3	37	c.971T>G	CCDS608.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.254723	0.80135	.	.	ENSG00000162600	ENST00000358603;ENST00000371226;ENST00000456980	T;T;T	0.74632	-0.86;-0.86;1.56	4.84	4.84	0.62591	.	0.194674	0.42053	D	0.000767	D	0.84097	0.5397	M	0.76727	2.345	0.39059	D	0.960488	D;D	0.63880	0.993;0.98	D;P	0.63381	0.914;0.891	D	0.87501	0.2433	10	0.87932	D	0	-12.4662	14.5804	0.68284	1.0:0.0:0.0:0.0	.	324;324	Q96E52;Q96E52-2	OMA1_HUMAN;.	R	324	ENSP00000351417:L324R;ENSP00000360270:L324R;ENSP00000395053:L324R	ENSP00000351417:L324R	L	-	2	0	OMA1	58772253	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.202000	0.89737	2.039000	0.60335	0.460000	0.39030	CTT		PASS	0.343	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027819.1	NM_145243		5	97	5	97	---	---	---	---
LRRIQ3	127255	broad.mit.edu	37	1	74648474	74648474	+	Silent	SNP	A	A	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:74648474A>G	ENST00000395089.1	-	2	320	c.321T>C	c.(319-321)aaT>aaC	p.N107N	LRRIQ3_ENST00000370909.2_Intron|LRRIQ3_ENST00000354431.4_Silent_p.N107N|LRRIQ3_ENST00000370911.3_Silent_p.N107N			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	107								p.N107N(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTGCAAACCCATTGTCATGAA	0.308																																						uc001dfy.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(319-321)AAT>AAC		leucine-rich repeats and IQ motif containing 3							67.0	66.0	66.0					1																	74648474		2203	4299	6502	SO:0001819	synonymous_variant	127255							g.chr1:74648474A>G	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.321T>C	1.37:g.74648474A>G						LRRIQ3_uc001dfz.3_RNA	p.N107N	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			3	513	-			107			LRR 3.		A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Silent	SNP	ENST00000395089.1	37	c.321T>C	CCDS41350.1																																																																																				PASS	0.308	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		5	28	5	28	---	---	---	---
ABCA4	24	broad.mit.edu	37	1	94577027	94577027	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:94577027G>C	ENST00000370225.3	-	3	355	c.269C>G	c.(268-270)tCt>tGt	p.S90C	ABCA4_ENST00000535735.1_Missense_Mutation_p.S90C	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	90					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.S90C(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AATTCCAGGAGATTCTCCTGG	0.517																																						uc001dqh.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(268-270)TCT>TGT		ATP-binding cassette, sub-family A member 4							61.0	59.0	60.0					1																	94577027		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94577027G>C	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.269C>G	1.37:g.94577027G>C	ENSP00000359245:p.Ser90Cys					ABCA4_uc010otn.1_Missense_Mutation_p.S90C	p.S90C	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	3	373	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	90			Extracellular.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.269C>G	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618142	0.87359	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.98666	-5.06;-5.06	5.67	5.67	0.87782	.	0.191142	0.45867	D	0.000329	D	0.99184	0.9717	M	0.84846	2.72	0.58432	D	0.999995	D;D	0.89917	1.0;0.995	D;P	0.71414	0.973;0.784	D	0.99813	1.1042	10	0.87932	D	0	.	18.5368	0.91013	0.0:0.0:1.0:0.0	.	90;90	F5H6E5;P78363	.;ABCA4_HUMAN	C	90	ENSP00000359245:S90C;ENSP00000437682:S90C	ENSP00000359245:S90C	S	-	2	0	ABCA4	94349615	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.136000	0.64783	2.679000	0.91253	0.655000	0.94253	TCT		PASS	0.517	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		3	16	3	16	---	---	---	---
UBQLN4	56893	broad.mit.edu	37	1	156020106	156020106	+	Silent	SNP	G	G	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:156020106G>C	ENST00000368309.3	-	4	809	c.717C>G	c.(715-717)ctC>ctG	p.L239L	UBQLN4_ENST00000472638.1_5'UTR	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	239					regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|polyubiquitin binding (GO:0031593)	p.L239L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					CAGGGTTATTGAGCATGTGGC	0.547																																						uc001fna.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(715-717)CTC>CTG		ataxin-1 ubiquitin-like interacting protein							142.0	122.0	129.0					1																	156020106		2203	4300	6503	SO:0001819	synonymous_variant	56893					cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding	g.chr1:156020106G>C	BC018403	CCDS1127.1	1q21	2013-02-12	2004-11-05	2004-11-06	ENSG00000160803	ENSG00000160803		"""Ubiquilin family"""	1237	protein-coding gene	gene with protein product	"""ataxin-1 ubiquitin-like interacting protein"""	605440	"""chromosome 1 open reading frame 6"""	C1orf6		10575211, 11001934	Standard	NM_020131		Approved	A1U, UBIN	uc001fna.3	Q9NRR5	OTTHUMG00000017461	ENST00000368309.3:c.717C>G	1.37:g.156020106G>C						UBQLN4_uc010pgx.1_Silent_p.L219L	p.L239L	NM_020131	NP_064516	Q9NRR5	UBQL4_HUMAN			4	741	-	Hepatocellular(266;0.133)|all_neural(408;0.195)		239					A6ND44|B2RAY7|Q5VYA0|Q5VYA1|Q9BR98|Q9UHX4	Silent	SNP	ENST00000368309.3	37	c.717C>G	CCDS1127.1																																																																																				PASS	0.547	UBQLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046193.1	NM_020131		13	58	13	58	---	---	---	---
MNDA	4332	broad.mit.edu	37	1	158813151	158813151	+	Silent	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:158813151C>A	ENST00000368141.4	+	3	609	c.348C>A	c.(346-348)ccC>ccA	p.P116P		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	116					B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P116P(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					CACCTGCACCCACCGCAAGAA	0.438																																						uc001fsz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(346-348)CCC>CCA		myeloid cell nuclear differentiation antigen							60.0	54.0	56.0					1																	158813151		2203	4300	6503	SO:0001819	synonymous_variant	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158813151C>A	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.348C>A	1.37:g.158813151C>A							p.P116P	NM_002432	NP_002423	P41218	MNDA_HUMAN			3	548	+	all_hematologic(112;0.0378)		116						Silent	SNP	ENST00000368141.4	37	c.348C>A	CCDS1177.1																																																																																				PASS	0.438	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		9	22	9	22	---	---	---	---
SLAMF8	56833	broad.mit.edu	37	1	159799840	159799840	+	Silent	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:159799840C>T	ENST00000289707.5	+	2	374	c.225C>T	c.(223-225)cgC>cgT	p.R75R	SLAMF8_ENST00000368104.4_Intron|SLAMF8_ENST00000471286.1_3'UTR	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	75					cellular response to drug (GO:0035690)|defense response to bacterium (GO:0042742)|phagosome acidification (GO:0090383)|regulation of kinase activity (GO:0043549)|regulation of NAD(P)H oxidase activity (GO:0033860)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R75R(1)		endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					ACCATTCCCGCTTCCTGGGCC	0.602																																						uc001fue.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(223-225)CGC>CGT		SLAM family member 8 precursor							86.0	93.0	90.0					1																	159799840		2203	4300	6503	SO:0001819	synonymous_variant	56833					integral to membrane		g.chr1:159799840C>T	AF146761	CCDS1188.1	1q23.1	2013-01-11			ENSG00000158714	ENSG00000158714		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21391	protein-coding gene	gene with protein product		606620				11313408	Standard	NM_020125		Approved	BLAME, SBBI42, CD353	uc001fue.4	Q9P0V8	OTTHUMG00000035433	ENST00000289707.5:c.225C>T	1.37:g.159799840C>T							p.R75R	NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN			2	435	+	all_hematologic(112;0.0597)		75			Extracellular (Potential).		Q32MC6|Q5VU15	Silent	SNP	ENST00000289707.5	37	c.225C>T	CCDS1188.1																																																																																				PASS	0.602	SLAMF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085983.1	NM_020125		31	83	31	83	---	---	---	---
NCSTN	23385	broad.mit.edu	37	1	160325486	160325486	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:160325486T>G	ENST00000294785.5	+	12	1519	c.1394T>G	c.(1393-1395)gTg>gGg	p.V465G	NCSTN_ENST00000368065.4_Missense_Mutation_p.V207G|NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000535857.1_Missense_Mutation_p.V327G|NCSTN_ENST00000392212.4_Missense_Mutation_p.V445G|NCSTN_ENST00000368063.1_Missense_Mutation_p.V445G	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	465					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)	p.V465G(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AACATTAATGTGAGCTATCCC	0.537																																						uc001fvx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1393-1395)GTG>GGG		nicastrin precursor							106.0	101.0	103.0					1																	160325486		2203	4300	6503	SO:0001583	missense	23385				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	g.chr1:160325486T>G	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.1394T>G	1.37:g.160325486T>G	ENSP00000294785:p.Val465Gly					NCSTN_uc001fvy.2_Missense_Mutation_p.V445G|NCSTN_uc010pjf.1_Missense_Mutation_p.V327G|NCSTN_uc001fvz.2_Missense_Mutation_p.V245G|NCSTN_uc010pjg.1_Missense_Mutation_p.V207G	p.V465G	NM_015331	NP_056146	Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		12	1518	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		465			Extracellular (Potential).		Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	ENST00000294785.5	37	c.1394T>G	CCDS1203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.33|14.33	2.503513|2.503513	0.44558|0.44558	.|.	.|.	ENSG00000162736|ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000535857;ENST00000368067;ENST00000392212;ENST00000368065;ENST00000424754|ENST00000424645;ENST00000435149	T;T;T;T|.	0.78364|.	-1.17;-1.17;-0.15;-1.17|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.596971|.	0.18169|.	N|.	0.149517|.	T|.	0.35422|.	0.0931|.	N|N	0.19112|0.19112	0.55|0.55	0.39978|0.39978	D|D	0.974877|0.974877	B;B;B|.	0.31077|.	0.307;0.051;0.063|.	B;B;B|.	0.20577|.	0.03;0.009;0.026|.	T|.	0.33059|.	-0.9883|.	10|.	0.21540|.	T|.	0.41|.	-7.2549|-7.2549	13.4144|13.4144	0.60959|0.60959	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	327;445;465|.	F6Y097;Q92542-2;Q92542|.	.;.;NICA_HUMAN|.	G|G	465;445;327;172;445;207;209|301;142	ENSP00000294785:V465G;ENSP00000357042:V445G;ENSP00000442605:V327G;ENSP00000376047:V445G|.	ENSP00000294785:V465G|.	V|X	+|+	2|1	0|0	NCSTN|NCSTN	158592110|158592110	0.999000|0.999000	0.42202|0.42202	0.922000|0.922000	0.36590|0.36590	0.847000|0.847000	0.48162|0.48162	6.277000|6.277000	0.72608|0.72608	2.205000|2.205000	0.71048|0.71048	0.528000|0.528000	0.53228|0.53228	GTG|TGA		PASS	0.537	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331		16	76	16	76	---	---	---	---
SERPINC1	462	broad.mit.edu	37	1	173880967	173880967	+	Silent	SNP	A	A	G	rs183416252		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:173880967A>G	ENST00000367698.3	-	3	712	c.594T>C	c.(592-594)taT>taC	p.Y198Y	SERPINC1_ENST00000494024.1_5'Flank	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	198			Y -> C (in AT3D; type-I and -II; Whitechapel). {ECO:0000269|PubMed:9031473}.|Y -> H (in AT3D; type-I). {ECO:0000269|PubMed:9031473, ECO:0000269|PubMed:9759613}.		blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.Y198Y(1)		NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	GCTTGGCTCCATATACCAACT	0.488													a|||	1	0.000199681	0.0	0.0	5008	,	,		19907	0.0		0.001	False		,,,				2504	0.0					uc001gjt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(592-594)TAT>TAC		serpin peptidase inhibitor, clade C, member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)						150.0	136.0	141.0					1																	173880967		2203	4300	6503	SO:0001819	synonymous_variant	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173880967A>G	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.594T>C	1.37:g.173880967A>G							p.Y198Y	NM_000488	NP_000479	P01008	ANT3_HUMAN			3	713	-			198		Y -> C (in AT3D; type-I and -II; Whitechapel).|Y -> H (in AT3D; type-I).			B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Silent	SNP	ENST00000367698.3	37	c.594T>C	CCDS1313.1																																																																																				PASS	0.488	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		11	84	11	84	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175360549	175360549	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:175360549T>G	ENST00000367674.2	-	7	2090	c.1382A>C	c.(1381-1383)cAg>cCg	p.Q461P	TNR_ENST00000263525.2_Missense_Mutation_p.Q461P			Q92752	TENR_HUMAN	tenascin R	461	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.Q461P(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GCTGGGGACCTGAGCAATCAC	0.502																																						uc001gkp.1																			1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(1381-1383)CAG>CCG		tenascin R precursor							51.0	49.0	49.0					1																	175360549		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175360549T>G	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1382A>C	1.37:g.175360549T>G	ENSP00000356646:p.Gln461Pro					TNR_uc009wwu.1_Missense_Mutation_p.Q461P	p.Q461P	NM_003285	NP_003276	Q92752	TENR_HUMAN			5	1463	-	Renal(580;0.146)		461			Fibronectin type-III 2.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.1382A>C	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.436833	0.83885	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.57595	0.39;0.39	5.33	5.33	0.75918	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.68439	0.3001	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68622	-0.5360	10	0.44086	T	0.13	.	14.9629	0.71169	0.0:0.0:0.0:1.0	.	461	Q92752	TENR_HUMAN	P	461	ENSP00000356646:Q461P;ENSP00000263525:Q461P	ENSP00000263525:Q461P	Q	-	2	0	TNR	173627172	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.548000	0.82154	2.012000	0.59069	0.533000	0.62120	CAG		PASS	0.502	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		3	27	3	27	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176738877	176738877	+	Silent	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:176738877G>A	ENST00000367662.3	+	16	5622	c.4458G>A	c.(4456-4458)ctG>ctA	p.L1486L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1486	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.L1486L(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						CCAAATTTCTGAAACGCTGCT	0.527																																						uc001gkz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(4456-4458)CTG>CTA		pappalysin 2 isoform 1							127.0	126.0	126.0					1																	176738877		1981	4167	6148	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176738877G>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.4458G>A	1.37:g.176738877G>A						PAPPA2_uc009www.2_RNA	p.L1486L	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			16	5622	+			1486			Sushi 2.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.4458G>A	CCDS41438.1																																																																																				PASS	0.527	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			31	83	31	83	---	---	---	---
BRINP2	57795	broad.mit.edu	37	1	177250597	177250597	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:177250597C>A	ENST00000361539.4	+	8	2597	c.2285C>A	c.(2284-2286)tCc>tAc	p.S762Y	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	762					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.S762Y(1)									ATCCAGTCCTCCCTGAGGGCT	0.557																																						uc001glf.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(2284-2286)TCC>TAC		family with sequence similarity 5, member B							75.0	76.0	76.0					1																	177250597		2203	4300	6503	SO:0001583	missense	57795					extracellular region		g.chr1:177250597C>A		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.2285C>A	1.37:g.177250597C>A	ENSP00000354481:p.Ser762Tyr					FAM5B_uc001glg.2_Missense_Mutation_p.S657Y	p.S762Y	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			8	2597	+			762					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.2285C>A	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248401	0.59103	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.16196	2.36	5.26	4.34	0.51931	.	0.124148	0.56097	D	0.000026	T	0.31544	0.0800	L	0.47716	1.5	0.53005	D	0.999964	D;B	0.62365	0.991;0.407	P;B	0.62560	0.904;0.088	T	0.03684	-1.1013	10	0.87932	D	0	-19.2679	13.3399	0.60538	0.0:0.9229:0.0:0.0771	.	657;762	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	Y	515;762	ENSP00000354481:S762Y	ENSP00000354481:S762Y	S	+	2	0	FAM5B	175517220	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	7.711000	0.84669	1.215000	0.43411	0.313000	0.20887	TCC		PASS	0.557	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		18	63	18	63	---	---	---	---
NPHS2	7827	broad.mit.edu	37	1	179526328	179526328	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:179526328G>T	ENST00000367615.4	-	5	640	c.572C>A	c.(571-573)gCc>gAc	p.A191D	NPHS2_ENST00000367616.4_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	191					actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)		p.A191D(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GTAGCAAATGGCATCTATCTC	0.428																																						uc001gmq.3																			1	Substitution - Missense(1)		lung(1)		0						c.(571-573)GCC>GAC		podocin							130.0	114.0	120.0					1																	179526328		2203	4300	6503	SO:0001583	missense	7827				excretion	integral to plasma membrane	protein binding	g.chr1:179526328G>T	AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.572C>A	1.37:g.179526328G>T	ENSP00000356587:p.Ala191Asp					NPHS2_uc009wxi.2_Intron	p.A191D	NM_014625	NP_055440	Q9NP85	PODO_HUMAN			5	657	-			191			Cytoplasmic (Potential).		B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	SNP	ENST00000367615.4	37	c.572C>A	CCDS1331.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127680	0.77549	.	.	ENSG00000116218	ENST00000367615	D	0.95377	-3.69	5.78	5.78	0.91487	.	0.054705	0.64402	D	0.000001	D	0.98112	0.9377	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98530	1.0627	10	0.87932	D	0	-19.3605	11.9641	0.53025	0.0792:0.0:0.9208:0.0	.	191	Q9NP85	PODO_HUMAN	D	191	ENSP00000356587:A191D	ENSP00000356587:A191D	A	-	2	0	NPHS2	177792951	1.000000	0.71417	0.955000	0.39395	0.872000	0.50106	4.698000	0.61789	2.749000	0.94314	0.655000	0.94253	GCC		PASS	0.428	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1			8	32	8	32	---	---	---	---
TDRD5	163589	broad.mit.edu	37	1	179604999	179604999	+	Silent	SNP	C	C	A	rs147568109	byFrequency	TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:179604999C>A	ENST00000367614.1	+	9	1856	c.1497C>A	c.(1495-1497)ctC>ctA	p.L499L	TDRD5_ENST00000294848.8_Silent_p.L499L|TDRD5_ENST00000444136.1_Silent_p.L499L	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	499					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)		p.L499L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CAGAGTTACTCGAAGACATGA	0.408																																						uc001gnf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1495-1497)CTC>CTA		tudor domain containing 5							92.0	89.0	90.0					1																	179604999		2203	4300	6503	SO:0001819	synonymous_variant	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179604999C>A	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1497C>A	1.37:g.179604999C>A						TDRD5_uc010pnp.1_Silent_p.L499L|TDRD5_uc001gnh.1_Silent_p.L54L	p.L499L	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN			9	1747	+			499					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Silent	SNP	ENST00000367614.1	37	c.1497C>A	CCDS1332.1																																																																																				PASS	0.408	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		4	55	4	55	---	---	---	---
QSOX1	5768	broad.mit.edu	37	1	180163472	180163472	+	Silent	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:180163472C>T	ENST00000367602.3	+	11	1487	c.1413C>T	c.(1411-1413)aaC>aaT	p.N471N	QSOX1_ENST00000367600.5_Silent_p.N471N			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	471	ERV/ALR sulfhydryl oxidase. {ECO:0000255|PROSITE-ProRule:PRU00654}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)	p.N471N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGAGTCCCAACGCCGCTGTCC	0.622																																						uc001gnz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1411-1413)AAC>AAT		quiescin Q6 sulfhydryl oxidase 1 isoform a							61.0	55.0	57.0					1																	180163472		2203	4300	6503	SO:0001819	synonymous_variant	5768				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity	g.chr1:180163472C>T	U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"""quiescin Q6"""	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.1413C>T	1.37:g.180163472C>T						QSOX1_uc001gny.2_Silent_p.N471N|QSOX1_uc001goa.2_Silent_p.N471N|QSOX1_uc001goc.2_Silent_p.N13N	p.N471N	NM_002826	NP_002817	O00391	QSOX1_HUMAN			11	1488	+			471			ERV/ALR sulfhydryl oxidase.		Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Silent	SNP	ENST00000367602.3	37	c.1413C>T	CCDS1337.1																																																																																				PASS	0.622	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1	NM_002826		6	30	6	30	---	---	---	---
RNASEL	6041	broad.mit.edu	37	1	182544528	182544528	+	Silent	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:182544528C>T	ENST00000367559.3	-	7	2478	c.2225G>A	c.(2224-2226)tGa>tAa	p.*742*	RNASEL_ENST00000444138.1_Silent_p.*742*	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	0					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)	p.*742*(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						ATCAGTCCATCAGCACCCAGG	0.498																																						uc001gpj.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|stomach(1)	5						c.(2224-2226)TGA>TAA		ribonuclease L							134.0	134.0	134.0					1																	182544528		2203	4300	6503	SO:0001819	synonymous_variant	6041	Hereditary_Prostate_Cancer			mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	g.chr1:182544528C>T	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.2225G>A	1.37:g.182544528C>T						RNASEL_uc009wxz.1_Silent_p.*742*	p.*742*	NM_021133	NP_066956	Q05823	RN5A_HUMAN			6	2392	-			742					Q5W0L2|Q6AI46	Silent	SNP	ENST00000367559.3	37	c.2225G>A	CCDS1347.1																																																																																				PASS	0.498	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		14	65	14	65	---	---	---	---
RGS16	6004	broad.mit.edu	37	1	182572472	182572472	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:182572472G>A	ENST00000367558.5	-	2	195	c.47C>T	c.(46-48)gCc>gTc	p.A16V		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	16					positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)	p.A16V(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						GAACTCTTTGGCTCTGAAAAA	0.502																																						uc001gpl.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(46-48)GCC>GTC		regulator of G-protein signalling 16							113.0	103.0	106.0					1																	182572472		2203	4300	6503	SO:0001583	missense	6004				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:182572472G>A	U70426	CCDS1348.1	1q25-q31	2008-02-05	2007-08-14		ENSG00000143333	ENSG00000143333		"""Regulators of G-protein signaling"""	9997	protein-coding gene	gene with protein product		602514	"""regulator of G-protein signalling 16"""			9469939	Standard	NM_002928		Approved	A28-RGS14, RGS-r	uc001gpl.4	O15492	OTTHUMG00000035212	ENST00000367558.5:c.47C>T	1.37:g.182572472G>A	ENSP00000356529:p.Ala16Val					RGS16_uc010pnv.1_Missense_Mutation_p.A16V	p.A16V	NM_002928	NP_002919	O15492	RGS16_HUMAN			2	201	-			16					B2R4M4|Q5VYN9|Q99701	Missense_Mutation	SNP	ENST00000367558.5	37	c.47C>T	CCDS1348.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778635	0.90195	.	.	ENSG00000143333	ENST00000367558	T	0.58652	0.32	5.25	5.25	0.73442	.	0.217169	0.47093	D	0.000247	T	0.63674	0.2531	M	0.75264	2.295	0.42796	D	0.993913	P;P	0.50066	0.931;0.604	P;B	0.48089	0.566;0.177	T	0.69942	-0.5008	10	0.87932	D	0	.	11.1686	0.48558	0.0856:0.0:0.9144:0.0	.	16;16	B4DVW5;O15492	.;RGS16_HUMAN	V	16	ENSP00000356529:A16V	ENSP00000356529:A16V	A	-	2	0	RGS16	180839095	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.059000	0.49947	2.451000	0.82905	0.561000	0.74099	GCC		PASS	0.502	RGS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085188.1	NM_002928		12	60	12	60	---	---	---	---
RGL1	23179	broad.mit.edu	37	1	183857654	183857654	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:183857654C>T	ENST00000360851.3	+	8	1176	c.998C>T	c.(997-999)tCg>tTg	p.S333L	RGL1_ENST00000536277.1_Missense_Mutation_p.S331L|RGL1_ENST00000304685.4_Missense_Mutation_p.S368L|RGL1_ENST00000539189.1_Missense_Mutation_p.S333L			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	333	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.S368L(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GCCATCGTTTCGGCACTGCAG	0.428																																						uc001gqo.2																			1	Substitution - Missense(1)		lung(1)	breast(5)|ovary(4)|lung(2)	11						c.(997-999)TCG>TTG		ral guanine nucleotide dissociation							148.0	155.0	153.0					1																	183857654		2203	4300	6503	SO:0001583	missense	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183857654C>T	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.998C>T	1.37:g.183857654C>T	ENSP00000354097:p.Ser333Leu					RGL1_uc010pof.1_Missense_Mutation_p.S138L|RGL1_uc001gqm.2_Missense_Mutation_p.S368L|RGL1_uc010pog.1_Missense_Mutation_p.S331L|RGL1_uc010poh.1_Missense_Mutation_p.S331L|RGL1_uc010poi.1_Missense_Mutation_p.S333L	p.S333L	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN			8	1155	+			333			Ras-GEF.		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37	c.998C>T		.	.	.	.	.	.	.	.	.	.	C	32	5.115466	0.94339	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000543395;ENST00000360851;ENST00000539189	T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28	5.07	5.07	0.68467	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.66177	0.2763	M	0.85542	2.76	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	0.85130	0.995;0.997;0.972;0.997;0.997	T	0.73033	-0.4110	10	0.87932	D	0	.	18.4691	0.90766	0.0:1.0:0.0:0.0	.	333;331;138;333;368	F5H6U6;B7Z2W5;F5H3C3;Q9NZL6;Q5SXQ6	.;.;.;RGL1_HUMAN;.	L	368;368;331;138;333;333	ENSP00000303192:S368L;ENSP00000356501:S368L;ENSP00000438662:S331L;ENSP00000354097:S333L;ENSP00000437355:S333L	ENSP00000303192:S368L	S	+	2	0	RGL1	182124277	1.000000	0.71417	0.854000	0.33618	0.931000	0.56810	7.556000	0.82233	2.341000	0.79615	0.655000	0.94253	TCG		PASS	0.428	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		20	106	20	106	---	---	---	---
RGS21	431704	broad.mit.edu	37	1	192335237	192335237	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:192335237T>C	ENST00000417209.2	+	5	616	c.442T>C	c.(442-444)Tgg>Cgg	p.W148R		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	148					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.W148R(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						TCATAAAAAATGGCTCCCTTT	0.333																																						uc001gsh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(442-444)TGG>CGG		regulator of G-protein signaling 21							42.0	41.0	41.0					1																	192335237		1800	4061	5861	SO:0001583	missense	431704				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192335237T>C	AY643711	CCDS41448.1	1q31.2	2013-09-24	2007-08-14		ENSG00000253148	ENSG00000253148		"""Regulators of G-protein signaling"""	26839	protein-coding gene	gene with protein product		612407	"""regulator of G-protein signalling 21"""			15066150	Standard	NM_001039152		Approved		uc001gsh.3	Q2M5E4	OTTHUMG00000035594	ENST00000417209.2:c.442T>C	1.37:g.192335237T>C	ENSP00000428343:p.Trp148Arg						p.W148R	NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN			5	616	+			148						Missense_Mutation	SNP	ENST00000417209.2	37	c.442T>C	CCDS41448.1	.	.	.	.	.	.	.	.	.	.	T	14.28	2.487279	0.44249	.	.	ENSG00000253148	ENST00000417209	T	0.36520	1.25	5.53	5.53	0.82687	.	0.000000	0.31577	U	0.007418	T	0.32010	0.0815	L	0.48362	1.52	0.34725	D	0.729137	B	0.25441	0.126	B	0.16289	0.015	T	0.38950	-0.9637	10	0.31617	T	0.26	.	14.4758	0.67546	0.0:0.0:0.0:1.0	.	148	Q2M5E4	RGS21_HUMAN	R	148	ENSP00000428343:W148R	ENSP00000428343:W148R	W	+	1	0	RGS21	190601860	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.252000	0.65445	2.099000	0.63709	0.482000	0.46254	TGG		PASS	0.333	RGS21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086387.2			16	24	16	24	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197404369	197404369	+	Missense_Mutation	SNP	C	C	A	rs149390998		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:197404369C>A	ENST00000367400.3	+	9	3511	c.3376C>A	c.(3376-3378)Ctc>Atc	p.L1126I	CRB1_ENST00000367397.1_Missense_Mutation_p.L507I|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000535699.1_Missense_Mutation_p.L1102I|CRB1_ENST00000544212.1_Missense_Mutation_p.L607I|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.L1014I	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1126	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L1126I(1)|p.L1126F(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGAGCAATTTCTCAAAATCTC	0.398																																						uc001gtz.2																			2	Substitution - Missense(2)	p.L1126F(1)	lung(1)|skin(1)	ovary(5)|skin(3)|large_intestine(1)	9						c.(3376-3378)CTC>ATC		crumbs homolog 1 precursor		C	ILE/LEU,ILE/LEU	0,4406		0,0,2203	84.0	84.0	84.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	3040,3376	5.7	1.0	1	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CRB1	NM_001193640.1,NM_201253.2	5,5	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1014/1295,1126/1407	197404369	1,13005	2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197404369C>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.3376C>A	1.37:g.197404369C>A	ENSP00000356370:p.Leu1126Ile					CRB1_uc010poz.1_Missense_Mutation_p.L1102I|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.L1014I|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.L607I|CRB1_uc001gub.1_Missense_Mutation_p.L775I	p.L1126I	NM_201253	NP_957705	P82279	CRUM1_HUMAN			9	3511	+			1126			Extracellular (Potential).|Laminin G-like 3.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.3376C>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.270882	0.23221	0.0	1.16E-4	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;D;D;D;D	0.87412	-1.91;-1.76;-2.25;-2.06;-2.04	5.7	5.7	0.88788	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	D	0.90590	0.7050	L	0.47716	1.5	0.35044	D	0.759973	D;D;P;D	0.71674	0.998;0.998;0.865;0.998	D;D;B;D	0.83275	0.996;0.99;0.301;0.994	D	0.91282	0.5052	9	0.31617	T	0.26	.	14.6471	0.68769	0.1454:0.8546:0.0:0.0	.	1102;1014;775;1126	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	I	1102;1126;1014;607;507;775	ENSP00000438786:L1102I;ENSP00000356370:L1126I;ENSP00000356369:L1014I;ENSP00000444556:L607I;ENSP00000356367:L507I	ENSP00000356367:L507I	L	+	1	0	CRB1	195670992	1.000000	0.71417	1.000000	0.80357	0.135000	0.20990	2.546000	0.45778	2.681000	0.91329	0.650000	0.86243	CTC		PASS	0.398	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		26	46	26	46	---	---	---	---
CDK18	5129	broad.mit.edu	37	1	205495521	205495521	+	Missense_Mutation	SNP	G	G	T	rs373562577		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:205495521G>T	ENST00000360066.2	+	7	899	c.598G>T	c.(598-600)Gcc>Tcc	p.A200S	CDK18_ENST00000429964.2_Missense_Mutation_p.A200S|CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Missense_Mutation_p.A230S	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	198	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.A200S(1)|p.A230S(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CCTGAAGCACGCCAATATTGT	0.587																																					Pancreas(180;489 2072 28461 40831 44265)	uc001hcr.2																			2	Substitution - Missense(2)		lung(2)	stomach(2)	2						c.(688-690)GCC>TCC		PCTAIRE protein kinase 3 isoform a							160.0	133.0	143.0					1																	205495521		2203	4300	6503	SO:0001583	missense	5129						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity	g.chr1:205495521G>T	X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"""Cyclin-dependent kinases"""	8751	protein-coding gene	gene with protein product		169190	"""PCTAIRE protein kinase 3"""	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.598G>T	1.37:g.205495521G>T	ENSP00000353176:p.Ala200Ser					CDK18_uc010pri.1_Missense_Mutation_p.R220L|CDK18_uc001hcp.2_Missense_Mutation_p.A200S|CDK18_uc001hcq.2_Missense_Mutation_p.A200S|CDK18_uc010prj.1_Missense_Mutation_p.A111S|CDK18_uc001hcs.2_Missense_Mutation_p.A111S|CDK18_uc009xbm.1_Missense_Mutation_p.A111S|CDK18_uc001hct.2_5'Flank	p.A230S	NM_212503	NP_997668	Q07002	CDK18_HUMAN			7	907	+			198			Protein kinase.		Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	Missense_Mutation	SNP	ENST00000360066.2	37	c.688G>T	CCDS44300.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974083	0.53720	.	.	ENSG00000117266	ENST00000429964;ENST00000506784;ENST00000360066;ENST00000478560;ENST00000419301	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	4.72	4.72	0.59763	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054902	0.64402	D	0.000001	T	0.47358	0.1441	L	0.31664	0.95	0.80722	D	1	P;B;B;B	0.44521	0.837;0.22;0.184;0.102	P;P;P;B	0.61003	0.882;0.75;0.745;0.444	T	0.32613	-0.9900	10	0.31617	T	0.26	-21.3719	11.5061	0.50468	0.0:0.0:0.8205:0.1794	.	162;198;230;200	Q59G02;Q07002;Q07002-3;Q07002-2	.;CDK18_HUMAN;.;.	S	200;230;200;111;230	ENSP00000399082:A200S;ENSP00000423665:A230S;ENSP00000353176:A200S;ENSP00000423408:A111S;ENSP00000391324:A230S	ENSP00000353176:A200S	A	+	1	0	CDK18	203762144	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.809000	0.86057	2.158000	0.67659	0.511000	0.50034	GCC		PASS	0.587	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090407.2	NM_002596		7	55	7	55	---	---	---	---
IL10	3586	broad.mit.edu	37	1	206944254	206944254	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:206944254A>G	ENST00000423557.1	-	3	434	c.376T>C	c.(376-378)Tgt>Cgt	p.C126R	IL10_ENST00000471071.1_5'UTR	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	126					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|defense response to bacterium (GO:0042742)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|leukocyte chemotaxis (GO:0030595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of chronic inflammatory response to antigenic stimulus (GO:0002875)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interferon-alpha biosynthetic process (GO:0045355)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of myeloid dendritic cell activation (GO:0030886)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor biosynthetic process (GO:0032800)|regulation of gene expression (GO:0010468)|regulation of isotype switching (GO:0045191)|regulation of sensory perception of pain (GO:0051930)|response to activity (GO:0014823)|response to carbon monoxide (GO:0034465)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to inactivity (GO:0014854)|response to insulin (GO:0032868)|response to molecule of bacterial origin (GO:0002237)|type 2 immune response (GO:0042092)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-10 receptor binding (GO:0005141)	p.C126R(1)		endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			CTACTTACACAGCGCCGTAGC	0.547																																						uc001hen.1																			1	Substitution - Missense(1)		lung(1)		0						c.(376-378)TGT>CGT		interleukin 10 precursor							125.0	121.0	122.0					1																	206944254		2203	4300	6503	SO:0001583	missense	3586				anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding	g.chr1:206944254A>G	M57627	CCDS1467.1	1q31-q32	2011-07-14			ENSG00000136634	ENSG00000136634		"""Interleukins and interleukin receptors"""	5962	protein-coding gene	gene with protein product	"""cytokine synthesis inhibitory factor"", ""T-cell growth inhibitory factor"""	124092				9162098	Standard	NM_000572		Approved	CSIF, TGIF, IL10A, IL-10	uc001hen.1	P22301	OTTHUMG00000036386	ENST00000423557.1:c.376T>C	1.37:g.206944254A>G	ENSP00000412237:p.Cys126Arg						p.C126R	NM_000572	NP_000563	P22301	IL10_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		3	435	-	Breast(84;0.183)		126						Missense_Mutation	SNP	ENST00000423557.1	37	c.376T>C	CCDS1467.1	.	.	.	.	.	.	.	.	.	.	A	18.43	3.623186	0.66901	.	.	ENSG00000136634	ENST00000423557	D	0.84516	-1.86	5.99	5.99	0.97316	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.042216	0.85682	D	0.000000	D	0.93543	0.7939	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94581	0.7779	10	0.87932	D	0	-9.7009	12.8861	0.58045	1.0:0.0:0.0:0.0	.	126	P22301	IL10_HUMAN	R	126	ENSP00000412237:C126R	ENSP00000412237:C126R	C	-	1	0	IL10	205010877	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	5.154000	0.64894	2.291000	0.77112	0.533000	0.62120	TGT		PASS	0.547	IL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088564.3	NM_000572		8	66	8	66	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207649608	207649608	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:207649608A>G	ENST00000367058.3	+	14	2758	c.2569A>G	c.(2569-2571)Acc>Gcc	p.T857A	CR2_ENST00000458541.2_Missense_Mutation_p.T830A|CR2_ENST00000367059.3_Intron|CR2_ENST00000367057.3_Missense_Mutation_p.T916A	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	857	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.T916A(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TCCGCCTAAGACCCCTAACGG	0.507																																						uc001hfw.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						c.(2569-2571)ACC>GCC		complement component (3d/Epstein Barr virus)							146.0	130.0	136.0					1																	207649608		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207649608A>G	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2569A>G	1.37:g.207649608A>G	ENSP00000356025:p.Thr857Ala					CR2_uc001hfv.2_Missense_Mutation_p.T916A|CR2_uc009xch.2_Intron	p.T857A	NM_001877	NP_001868	P20023	CR2_HUMAN			14	2663	+			857			Sushi 14.|Extracellular (Potential).		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.2569A>G	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	A	9.965	1.224000	0.22457	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000458541	T;T;T	0.62941	-0.01;-0.01;-0.01	4.78	3.65	0.41850	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.38374	0.1038	N	0.10874	0.06	0.09310	N	1	B;B	0.32071	0.355;0.288	B;B	0.29785	0.062;0.107	T	0.17107	-1.0380	9	0.23891	T	0.37	.	7.4449	0.27205	0.8985:0.0:0.1015:0.0	.	857;916	P20023;P20023-3	CR2_HUMAN;.	A	857;916;830	ENSP00000356025:T857A;ENSP00000356024:T916A;ENSP00000404222:T830A	ENSP00000356024:T916A	T	+	1	0	CR2	205716231	0.041000	0.20044	0.003000	0.11579	0.342000	0.28953	1.105000	0.31086	0.940000	0.37473	0.533000	0.62120	ACC		PASS	0.507	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		23	45	23	45	---	---	---	---
FAM71A	149647	broad.mit.edu	37	1	212799258	212799258	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:212799258G>C	ENST00000294829.3	+	1	1470	c.1039G>C	c.(1039-1041)Gct>Cct	p.A347P	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	347	Ala-rich.					nucleus (GO:0005634)		p.A347P(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)		TGTGGCAGGGGCTGCAGGCAA	0.607																																						uc001hjk.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(1039-1041)GCT>CCT		hypothetical protein LOC149647							49.0	54.0	52.0					1																	212799258		2203	4300	6503	SO:0001583	missense	149647							g.chr1:212799258G>C		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.1039G>C	1.37:g.212799258G>C	ENSP00000294829:p.Ala347Pro					uc010pth.1_RNA	p.A347P	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	1443	+			347			Ala-rich.		Q5VTZ1	Missense_Mutation	SNP	ENST00000294829.3	37	c.1039G>C	CCDS1507.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.683601	0.47991	.	.	ENSG00000162771	ENST00000294829;ENST00000545975	T	0.06687	3.27	3.76	-1.12	0.09808	.	.	.	.	.	T	0.12220	0.0297	L	0.61218	1.895	0.09310	N	1	D	0.61697	0.99	P	0.48654	0.585	T	0.17319	-1.0373	9	0.66056	D	0.02	0.0071	6.9716	0.24652	0.5211:0.0:0.4789:0.0	.	347	Q8IYT1	FA71A_HUMAN	P	347;122	ENSP00000294829:A347P	ENSP00000294829:A347P	A	+	1	0	FAM71A	210865881	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.356000	0.07661	-0.089000	0.12484	0.511000	0.50034	GCT		PASS	0.607	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606		7	15	7	15	---	---	---	---
MIA3	375056	broad.mit.edu	37	1	222833078	222833078	+	Silent	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:222833078C>A	ENST00000344922.5	+	22	4834	c.4809C>A	c.(4807-4809)ctC>ctA	p.L1603L	RP11-378J18.8_ENST00000608771.1_RNA|MIA3_ENST00000344441.6_Silent_p.L1603L|MIA3_ENST00000340535.7_Silent_p.L481L|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1603					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.L1603L(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TTCAATAGCTCAAAGCTCGTG	0.383																																						uc001hnl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(4807-4809)CTC>CTA		melanoma inhibitory activity family, member 3							88.0	82.0	84.0					1																	222833078		1825	4090	5915	SO:0001819	synonymous_variant	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222833078C>A		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.4809C>A	1.37:g.222833078C>A						MIA3_uc001hnm.2_Silent_p.L481L	p.L1603L	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	22	4818	+			1603			Cytoplasmic (Potential).|Potential.		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Silent	SNP	ENST00000344922.5	37	c.4809C>A	CCDS41470.1																																																																																				PASS	0.383	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		22	36	22	36	---	---	---	---
PARP1	142	broad.mit.edu	37	1	226550831	226550831	+	Silent	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:226550831G>A	ENST00000366794.5	-	21	2960	c.2817C>T	c.(2815-2817)agC>agT	p.S939S	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	939	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S939S(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TGGGTAACTTGCTGATATGTG	0.502								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														uc001hqd.3																			1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10						c.(2815-2817)AGC>AGT	Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA	poly (ADP-ribose) polymerase family, member 1							187.0	154.0	166.0					1																	226550831		2203	4300	6503	SO:0001819	synonymous_variant	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226550831G>A	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2817C>T	1.37:g.226550831G>A							p.S939S	NM_001618	NP_001609	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	21	2988	-	Breast(184;0.133)		939			PARP catalytic.		B1ANJ4|Q8IUZ9	Silent	SNP	ENST00000366794.5	37	c.2817C>T	CCDS1554.1																																																																																				PASS	0.502	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		12	65	12	65	---	---	---	---
NUP133	55746	broad.mit.edu	37	1	229577773	229577773	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:229577773C>T	ENST00000261396.3	-	26	3440	c.3349G>A	c.(3349-3351)Gag>Aag	p.E1117K	NUP133_ENST00000537506.1_Missense_Mutation_p.E1101K|RP5-1068B5.3_ENST00000434311.1_lincRNA	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	1117					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.E1117K(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GGTAAGTACTCACTGAGCTGA	0.363																																						uc001htn.2																			1	Substitution - Missense(1)		lung(1)	breast(4)|skin(2)|ovary(1)	7						c.(3349-3351)GAG>AAG		nucleoporin 133kDa							83.0	92.0	89.0					1																	229577773		2203	4300	6503	SO:0001583	missense	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229577773C>T		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.3349G>A	1.37:g.229577773C>T	ENSP00000261396:p.Glu1117Lys						p.E1117K	NM_018230	NP_060700	Q8WUM0	NU133_HUMAN			26	3441	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	1117					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	c.3349G>A	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.194177	0.58017	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.26518	1.73;1.82;1.73	5.6	5.6	0.85130	.	0.415439	0.30771	N	0.008904	T	0.27559	0.0677	L	0.59436	1.845	0.39423	D	0.966947	P	0.40578	0.722	B	0.40825	0.341	T	0.03910	-1.0993	10	0.21540	T	0.41	-11.2642	12.8979	0.58109	0.0:0.9257:0.0:0.0743	.	1117	Q8WUM0	NU133_HUMAN	K	1046;1117;1046;1101	ENSP00000261396:E1117K;ENSP00000355640:E1046K;ENSP00000443496:E1101K	ENSP00000261396:E1117K	E	-	1	0	NUP133	227644396	1.000000	0.71417	0.978000	0.43139	0.752000	0.42762	3.970000	0.56824	2.640000	0.89533	0.561000	0.74099	GAG		PASS	0.363	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		12	104	12	104	---	---	---	---
NUP133	55746	broad.mit.edu	37	1	229599292	229599292	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:229599292G>A	ENST00000261396.3	-	19	2774	c.2683C>T	c.(2683-2685)Cag>Tag	p.Q895*	NUP133_ENST00000537506.1_Nonsense_Mutation_p.Q879*	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	895					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.Q895*(2)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CTCATCACCTGATCAGCAAAC	0.443																																						uc001htn.2																			2	Substitution - Nonsense(2)		prostate(1)|lung(1)	breast(4)|skin(2)|ovary(1)	7						c.(2683-2685)CAG>TAG		nucleoporin 133kDa							142.0	117.0	126.0					1																	229599292		2203	4300	6503	SO:0001587	stop_gained	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229599292G>A		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.2683C>T	1.37:g.229599292G>A	ENSP00000261396:p.Gln895*						p.Q895*	NM_018230	NP_060700	Q8WUM0	NU133_HUMAN			19	2775	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	895					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Nonsense_Mutation	SNP	ENST00000261396.3	37	c.2683C>T	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	G	41	8.660463	0.98903	.	.	ENSG00000069248	ENST00000261396;ENST00000537506	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-9.6342	19.1617	0.93535	0.0:0.0:1.0:0.0	.	.	.	.	X	895;879	.	ENSP00000261396:Q895X	Q	-	1	0	NUP133	227665915	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	7.304000	0.78882	2.581000	0.87130	0.655000	0.94253	CAG		PASS	0.443	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		5	57	5	57	---	---	---	---
PCNXL2	80003	broad.mit.edu	37	1	233161104	233161104	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:233161104C>A	ENST00000258229.9	-	26	4627	c.4393G>T	c.(4393-4395)Ggc>Tgc	p.G1465C	PCNXL2_ENST00000344698.2_Missense_Mutation_p.G117C	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1465						integral component of membrane (GO:0016021)		p.G1465C(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TCCTCGTCGCCCTCCATGATG	0.572											OREG0014326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hvl.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(4393-4395)GGC>TGC		pecanex-like 2							74.0	82.0	80.0					1																	233161104		2180	4274	6454	SO:0001583	missense	80003					integral to membrane		g.chr1:233161104C>A	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.4393G>T	1.37:g.233161104C>A	ENSP00000258229:p.Gly1465Cys		OREG0014326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2363	PCNXL2_uc001hvk.1_Missense_Mutation_p.G117C|PCNXL2_uc001hvm.1_Intron	p.G1465C	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN			26	4628	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1465					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.4393G>T	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378506	0.82682	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.26810	1.71;2.78	5.77	4.86	0.63082	.	0.043972	0.85682	D	0.000000	T	0.51329	0.1668	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.76575	0.928;0.988	T	0.57283	-0.7838	10	0.87932	D	0	.	14.9183	0.70815	0.0:0.9315:0.0:0.0685	.	1465;117	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	C	117;1465	ENSP00000340759:G117C;ENSP00000258229:G1465C	ENSP00000258229:G1465C	G	-	1	0	PCNXL2	231227727	1.000000	0.71417	0.132000	0.22025	0.809000	0.45718	5.738000	0.68613	1.582000	0.49881	0.655000	0.94253	GGC		PASS	0.572	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		17	33	17	33	---	---	---	---
VN1R5	317705	broad.mit.edu	37	1	247419658	247419658	+	IGR	SNP	C	C	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:247419658C>G								RP11-488L18.8 (14533 upstream) : Y_RNA (38478 downstream)																							TACTGCTGCTCTTCACCCAGG	0.398																																						uc010pyu.1																			0					0						c.(283-285)CTC>CTG		vomeronasal 1 receptor 5							133.0	125.0	128.0					1																	247419658		2000	4183	6183	SO:0001628	intergenic_variant	317705				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr1:247419658C>G																													1.37:g.247419658C>G							p.L95L	NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00854)		2	285	+	all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	95			Helical; Name=3; (Potential).			Silent	SNP		37	c.285C>G																																																																																				0	PASS	0.398									6	115	6	115	---	---	---	---
VN1R5	317705	broad.mit.edu	37	1	247420096	247420096	+	IGR	SNP	T	T	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:247420096T>A								RP11-488L18.8 (14971 upstream) : Y_RNA (38040 downstream)																							ATGGTGATTATTTTATACAGA	0.473																																						uc010pyu.1																			0					0						c.(721-723)TAT>TAA		vomeronasal 1 receptor 5							124.0	123.0	123.0					1																	247420096		1909	4124	6033	SO:0001628	intergenic_variant	317705				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr1:247420096T>A																													1.37:g.247420096T>A							p.Y241*	NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00854)		2	723	+	all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	241			Cytoplasmic (Potential).			Nonsense_Mutation	SNP		37	c.723T>A																																																																																				0	PASS	0.473									33	69	33	69	---	---	---	---
OR2G3	81469	broad.mit.edu	37	1	247769158	247769158	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:247769158A>G	ENST00000320002.2	+	1	303	c.271A>G	c.(271-273)Acg>Gcg	p.T91A	RP11-978I15.10_ENST00000446347.1_RNA|RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T91A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ACCAAAGAAGACGATCACTTA	0.468																																						uc010pyz.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(271-273)ACG>GCG		olfactory receptor, family 2, subfamily G,							296.0	268.0	277.0					1																	247769158		2203	4300	6503	SO:0001583	missense	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769158A>G	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.271A>G	1.37:g.247769158A>G	ENSP00000326301:p.Thr91Ala						p.T91A	NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	271	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		91			Extracellular (Potential).		B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	ENST00000320002.2	37	c.271A>G	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	A	7.946	0.743741	0.15642	.	.	ENSG00000177476	ENST00000320002	T	0.01705	4.68	3.8	1.25	0.21368	GPCR, rhodopsin-like superfamily (1);	0.194617	0.24172	U	0.040898	T	0.02156	0.0067	L	0.49640	1.575	0.09310	N	1	B	0.14805	0.011	B	0.12156	0.007	T	0.39663	-0.9603	10	0.72032	D	0.01	.	7.3465	0.26666	0.6505:0.0:0.0:0.3495	.	91	Q8NGZ4	OR2G3_HUMAN	A	91	ENSP00000326301:T91A	ENSP00000326301:T91A	T	+	1	0	OR2G3	245835781	0.000000	0.05858	0.850000	0.33497	0.176000	0.22953	0.352000	0.20113	0.119000	0.18210	0.403000	0.27427	ACG		PASS	0.468	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			55	120	55	120	---	---	---	---
OR2L8	391190	broad.mit.edu	37	1	248113057	248113057	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:248113057C>A	ENST00000357191.3	+	1	898	c.898C>A	c.(898-900)Ctg>Atg	p.L300M	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L300M(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GATGGGGGCCCTGACACGAGT	0.488																																						uc001idt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(898-900)CTG>ATG		olfactory receptor, family 2, subfamily L,							40.0	34.0	36.0					1																	248113057		2203	4293	6496	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248113057C>A	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.898C>A	1.37:g.248113057C>A	ENSP00000349719:p.Leu300Met					OR2L13_uc001ids.2_Intron	p.L300M	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	898	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		300			Cytoplasmic (Potential).		Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.898C>A	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	2.385	-0.341284	0.05243	.	.	ENSG00000196936	ENST00000357191	T	0.46451	0.87	1.8	-2.72	0.05968	.	.	.	.	.	T	0.30510	0.0767	L	0.31804	0.96	0.09310	N	1	P	0.50443	0.935	P	0.46144	0.505	T	0.22068	-1.0227	9	0.42905	T	0.14	.	6.8587	0.24054	0.0:0.5414:0.0:0.4586	.	300	Q8NGY9	OR2L8_HUMAN	M	300	ENSP00000349719:L300M	ENSP00000349719:L300M	L	+	1	2	OR2L8	246179680	0.000000	0.05858	0.097000	0.21041	0.888000	0.51559	-3.042000	0.00632	-0.722000	0.04922	0.485000	0.47835	CTG		PASS	0.488	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			16	27	16	27	---	---	---	---
OR2M2	391194	broad.mit.edu	37	1	248344097	248344097	+	Silent	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:248344097G>A	ENST00000359682.2	+	1	810	c.810G>A	c.(808-810)caG>caA	p.Q270Q		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q270Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCCCAACGCAGGACAAGATGG	0.502																																						uc010pzf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(808-810)CAG>CAA		olfactory receptor, family 2, subfamily M,							208.0	185.0	193.0					1																	248344097		2203	4300	6503	SO:0001819	synonymous_variant	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248344097G>A	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.810G>A	1.37:g.248344097G>A							p.Q270Q	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	810	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		270			Extracellular (Potential).		A3KFT4	Silent	SNP	ENST00000359682.2	37	c.810G>A	CCDS31106.1																																																																																				PASS	0.502	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		33	140	33	140	---	---	---	---
OR2T4	127074	broad.mit.edu	37	1	248525076	248525076	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr1:248525076T>G	ENST00000366475.1	+	1	194	c.194T>G	c.(193-195)gTg>gGg	p.V65G		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V65G(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTCATTTTTGTGGTTTTCCTG	0.478																																						uc001ieh.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(193-195)GTG>GGG		olfactory receptor, family 2, subfamily T,							221.0	206.0	211.0					1																	248525076		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525076T>G	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.194T>G	1.37:g.248525076T>G	ENSP00000355431:p.Val65Gly						p.V65G	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	194	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		65			Helical; Name=1; (Potential).		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.194T>G	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	T	7.442	0.640908	0.14386	.	.	ENSG00000196944	ENST00000366475	T	0.00433	7.43	3.48	3.48	0.39840	.	0.201731	0.25332	N	0.031437	T	0.00241	0.0007	N	0.26042	0.785	0.09310	N	0.999998	B	0.09022	0.002	B	0.12837	0.008	T	0.42899	-0.9424	10	0.37606	T	0.19	.	4.6093	0.12395	0.0:0.1119:0.3636:0.5245	.	65	Q8NH00	OR2T4_HUMAN	G	65	ENSP00000355431:V65G	ENSP00000355431:V65G	V	+	2	0	OR2T4	246591699	0.000000	0.05858	0.403000	0.26384	0.090000	0.18270	0.687000	0.25407	1.205000	0.43262	0.397000	0.26171	GTG		PASS	0.478	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		7	150	7	150	---	---	---	---
GREB1	9687	broad.mit.edu	37	2	11767139	11767139	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr2:11767139C>T	ENST00000381486.2	+	25	4658	c.4358C>T	c.(4357-4359)gCa>gTa	p.A1453V	GREB1_ENST00000234142.5_Missense_Mutation_p.A1453V|GREB1_ENST00000396123.1_Missense_Mutation_p.A451V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1453						integral component of membrane (GO:0016021)		p.A1453V(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CGTCAGACGGCACGGATGAGA	0.572																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(4357-4359)GCA>GTA		growth regulation by estrogen in breast cancer 1							84.0	91.0	89.0					2																	11767139		2100	4227	6327	SO:0001583	missense	9687					integral to membrane		g.chr2:11767139C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4358C>T	2.37:g.11767139C>T	ENSP00000370896:p.Ala1453Val					GREB1_uc002rbp.1_Missense_Mutation_p.A451V	p.A1453V	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	25	4658	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1453					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.4358C>T	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	7.613	0.675131	0.14841	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.52526	0.66;0.66;0.66	5.58	4.71	0.59529	.	0.151940	0.56097	D	0.000026	T	0.21962	0.0529	N	0.02916	-0.46	0.18873	N	0.999981	B	0.14805	0.011	B	0.19391	0.025	T	0.14282	-1.0478	10	0.02654	T	1	-24.8628	14.4243	0.67204	0.0:0.9289:0.0:0.0711	.	1453	Q4ZG55	GREB1_HUMAN	V	1453;1453;451	ENSP00000370896:A1453V;ENSP00000234142:A1453V;ENSP00000379429:A451V	ENSP00000234142:A1453V	A	+	2	0	GREB1	11684590	0.979000	0.34478	0.394000	0.26270	0.722000	0.41435	4.438000	0.59961	1.360000	0.45960	0.655000	0.94253	GCA		PASS	0.572	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		5	24	5	24	---	---	---	---
SOS1	6654	broad.mit.edu	37	2	39294858	39294858	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr2:39294858C>G	ENST00000426016.1	-	3	210	c.124G>C	c.(124-126)Gat>Cat	p.D42H	SOS1_ENST00000402219.2_Missense_Mutation_p.D42H|SOS1_ENST00000428721.2_5'UTR|SOS1_ENST00000395038.2_Missense_Mutation_p.D42H			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	42					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D42H(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AGAGCATCATCATTAGACTCG	0.343									Noonan syndrome																													uc002rrk.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10						c.(124-126)GAT>CAT		son of sevenless homolog 1							134.0	144.0	141.0					2																	39294858		2203	4300	6503	SO:0001583	missense	6654	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39294858C>G	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.124G>C	2.37:g.39294858C>G	ENSP00000387784:p.Asp42His					SOS1_uc010ynr.1_RNA	p.D42H	NM_005633	NP_005624	Q07889	SOS1_HUMAN			2	165	-		all_hematologic(82;0.21)	42					A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.124G>C	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338557	0.60963	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000395038;ENST00000263879	D;D;D	0.84873	-1.91;-1.91;-1.91	5.33	5.33	0.75918	Histone-fold (1);	0.165132	0.53938	D	0.000060	D	0.84347	0.5452	L	0.42245	1.32	0.80722	D	1	B	0.33171	0.4	B	0.38803	0.282	D	0.84888	0.0835	10	0.87932	D	0	.	19.0282	0.92944	0.0:1.0:0.0:0.0	.	42	Q07889	SOS1_HUMAN	H	42	ENSP00000387784:D42H;ENSP00000384675:D42H;ENSP00000378479:D42H	ENSP00000263879:D42H	D	-	1	0	SOS1	39148362	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.623000	0.46435	2.501000	0.84356	0.551000	0.68910	GAT		PASS	0.343	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		32	158	32	158	---	---	---	---
PEX13	5194	broad.mit.edu	37	2	61258651	61258651	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr2:61258651G>T	ENST00000295030.5	+	2	228	c.190G>T	c.(190-192)Gga>Tga	p.G64*	PEX13_ENST00000472678.1_3'UTR	NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	64					cerebral cortex cell migration (GO:0021795)|fatty acid alpha-oxidation (GO:0001561)|locomotory behavior (GO:0007626)|microtubule-based peroxisome localization (GO:0060152)|neuron migration (GO:0001764)|protein import into peroxisome matrix, docking (GO:0016560)|suckling behavior (GO:0001967)	integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)		p.G64*(1)		endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			ACAGCAGACAGGAAGTAGCAG	0.438																																						uc002sau.3																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(190-192)GGA>TGA		peroxisomal biogenesis factor 13							113.0	111.0	111.0					2																	61258651		2203	4300	6503	SO:0001587	stop_gained	5194				cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding	g.chr2:61258651G>T	U71374	CCDS1866.1	2p16.1	2008-08-26	2008-08-26		ENSG00000162928	ENSG00000162928			8855	protein-coding gene	gene with protein product		601789	"""peroxisome biogenesis factor 13"""			9878256	Standard	NM_002618		Approved		uc002sau.4	Q92968	OTTHUMG00000129422	ENST00000295030.5:c.190G>T	2.37:g.61258651G>T	ENSP00000295030:p.Gly64*						p.G64*	NM_002618	NP_002609	Q92968	PEX13_HUMAN	LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)		2	273	+			64			Lumenal (Potential).		B2RCS1	Nonsense_Mutation	SNP	ENST00000295030.5	37	c.190G>T	CCDS1866.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104211	0.76983	.	.	ENSG00000162928	ENST00000295030	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-19.8796	20.1649	0.98147	0.0:0.0:1.0:0.0	.	.	.	.	X	64	.	ENSP00000295030:G64X	G	+	1	0	PEX13	61112155	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.654000	0.74387	2.753000	0.94483	0.655000	0.94253	GGA		PASS	0.438	PEX13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251581.3	NM_002618		5	79	5	79	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61415429	61415429	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr2:61415429C>G	ENST00000398571.2	-	80	10525	c.10449G>C	c.(10447-10449)ttG>ttC	p.L3483F	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3483					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.L3483F(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CACAGCTTCTCAAGTCAGCTA	0.478																																						uc002sbe.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(10447-10449)TTG>TTC		ubiquitin specific protease 34							73.0	69.0	70.0					2																	61415429		1902	4130	6032	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61415429C>G	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.10449G>C	2.37:g.61415429C>G	ENSP00000381577:p.Leu3483Phe					USP34_uc002sbd.2_Missense_Mutation_p.L285F	p.L3483F	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		80	10471	-			3483					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.10449G>C	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.49|13.49	2.251313|2.251313	0.39797|0.39797	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000411912|ENST00000263989;ENST00000398569;ENST00000398571;ENST00000436269	.|T	.|0.03717	.|3.83	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	.|0.285102	.|0.30930	.|N	.|0.008581	T|T	0.04182|0.04182	0.0116|0.0116	N|N	0.19112|0.19112	0.55|0.55	0.40283|0.40283	D|D	0.978411|0.978411	.|B	.|0.09022	.|0.002	.|B	.|0.04013	.|0.001	T|T	0.51585|0.51585	-0.8687|-0.8687	5|10	.|0.46703	.|T	.|0.11	.|.	19.3959|19.3959	0.94607|0.94607	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|3483	.|Q70CQ2	.|UBP34_HUMAN	Q|F	1160|3331;3248;3483;361	.|ENSP00000381577:L3483F	.|ENSP00000263989:L3331F	E|L	-|-	1|3	0|2	USP34|USP34	61268933|61268933	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.586000|3.586000	0.53950|0.53950	2.748000|2.748000	0.94277|0.94277	0.591000|0.591000	0.81541|0.81541	GAG|TTG		PASS	0.478	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			30	61	30	61	---	---	---	---
IGKV3-15	28913	broad.mit.edu	37	2	89384782	89384783	+	RNA	DNP	GG	GG	TC	rs530316441		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr2:89384782_89384783GG>TC	ENST00000390252.2	-	0	331_332									immunoglobulin kappa variable 3-15																		GAACCTGGCTGGGATACCAGTG	0.53																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.																																						0							g.chr2:89384782G>T|g.chr2:89384783G>C	M23090		2p11.2	2012-02-08			ENSG00000244437	ENSG00000244437		"""Immunoglobulins / IGK locus"""	5816	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151653	Exception_encountered	2.37:g.89384782_89384783delinsTC						uc002stl.2_Intron								50		-									RNA	SNP	ENST00000390252.2	37	c.5358C>A|c.5357C>G																																																																																					PASS	0.530	IGKV3-15-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323402.1	NG_000834		42	48	42	48	---	---	---	---
IGKV1D-8	28904	broad.mit.edu	37	2	90260185	90260185	+	RNA	SNP	C	C	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr2:90260185C>G	ENST00000471857.1	+	0	469									immunoglobulin kappa variable 1D-8																		TCACTCTCACCATCAGTTGCC	0.488																																						uc010fhm.2																			0													Parts of antibodies, mostly variable regions.							118.0	138.0	132.0					2																	90260185		1859	4105	5964			0							g.chr2:90260185C>G	Z00008		2p11.2	2012-02-08			ENSG00000239819	ENSG00000239819		"""Immunoglobulins / IGK locus"""	5759	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151570		2.37:g.90260185C>G														30		+									RNA	SNP	ENST00000471857.1	37	c.4168C>G																																																																																					PASS	0.488	IGKV1D-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323145.2	NG_000833		37	180	37	180	---	---	---	---
TSGA10	80705	broad.mit.edu	37	2	99634803	99634803	+	Silent	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr2:99634803G>A	ENST00000393483.3	-	20	2776	c.1932C>T	c.(1930-1932)gcC>gcT	p.A644A	TSGA10_ENST00000410001.1_Silent_p.A644A|TSGA10_ENST00000355053.4_Silent_p.A644A|TSGA10_ENST00000539964.1_Silent_p.A644A	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	644	Interaction with HIF1A. {ECO:0000250}.				cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)		p.A644A(1)|p.R643fs*14(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						GTTCTTGTACGGCCCTCTCCC	0.333																																						uc002szg.3																			2	Deletion - Frameshift(1)|Substitution - coding silent(1)		NS(1)|lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1930-1932)GCC>GCT		testis specific, 10							105.0	104.0	104.0					2																	99634803		2203	4300	6503	SO:0001819	synonymous_variant	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99634803G>A	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.1932C>T	2.37:g.99634803G>A						TSGA10_uc002szh.3_Silent_p.A644A|TSGA10_uc002szi.3_Silent_p.A644A|TSGA10_uc010fin.1_Silent_p.A644A	p.A644A	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN			18	2560	-			644			Interaction with HIF1A (By similarity).		B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Silent	SNP	ENST00000393483.3	37	c.1932C>T	CCDS2037.1																																																																																				PASS	0.333	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		12	49	12	49	---	---	---	---
GCC2	9648	broad.mit.edu	37	2	109086257	109086257	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr2:109086257G>A	ENST00000309863.6	+	6	1186	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	GCC2_ENST00000485546.1_3'UTR	NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	158					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)	p.E158K(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GCAGCTGGAAGAAGCAATGAA	0.303																																						uc002tec.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(472-474)GAA>AAA		GRIP and coiled-coil domain-containing 2							83.0	87.0	86.0					2																	109086257		2203	4300	6503	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109086257G>A	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.472G>A	2.37:g.109086257G>A	ENSP00000307939:p.Glu158Lys					GCC2_uc002ted.2_Missense_Mutation_p.E57K	p.E158K	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			6	626	+			158			Potential.		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.472G>A	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.452344	0.26074	.	.	ENSG00000135968	ENST00000435553;ENST00000309863;ENST00000409821;ENST00000409896	T	0.54279	0.58	5.37	5.37	0.77165	.	0.139640	0.47455	D	0.000229	T	0.45895	0.1365	L	0.36672	1.1	0.41732	D	0.989566	B	0.24132	0.098	B	0.18263	0.021	T	0.30238	-0.9985	10	0.30078	T	0.28	.	19.466	0.94939	0.0:0.0:1.0:0.0	.	158	Q8IWJ2	GCC2_HUMAN	K	158;158;161;121	ENSP00000307939:E158K	ENSP00000307939:E158K	E	+	1	0	GCC2	108452689	1.000000	0.71417	1.000000	0.80357	0.112000	0.19704	7.761000	0.85260	2.661000	0.90470	0.460000	0.39030	GAA		PASS	0.303	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		48	87	48	87	---	---	---	---
TUBA3E	112714	broad.mit.edu	37	2	130951676	130951676	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr2:130951676C>T	ENST00000312988.7	-	4	839	c.739G>A	c.(739-741)Gcc>Acc	p.A247T		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	247					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.A247T(1)		endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					ACATTCAGGGCCCCATCAAAT	0.592																																						uc002tqv.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(739-741)GCC>ACC		tubulin, alpha 3e							214.0	153.0	174.0					2																	130951676		2203	4300	6503	SO:0001583	missense	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130951676C>T	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.739G>A	2.37:g.130951676C>T	ENSP00000318197:p.Ala247Thr						p.A247T	NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN			4	840	-	Colorectal(110;0.1)		247						Missense_Mutation	SNP	ENST00000312988.7	37	c.739G>A	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	c	10.16	1.273655	0.23221	.	.	ENSG00000152086	ENST00000312988	D	0.84070	-1.8	2.92	2.02	0.26589	Tubulin/FtsZ, GTPase domain (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.49916	U	0.000139	T	0.76399	0.3982	L	0.39085	1.19	0.44234	D	0.997079	P	0.35456	0.502	B	0.40410	0.328	T	0.74393	-0.3680	10	0.87932	D	0	.	9.1141	0.36746	0.2202:0.7797:0.0:0.0	.	247	Q6PEY2	TBA3E_HUMAN	T	247	ENSP00000318197:A247T	ENSP00000318197:A247T	A	-	1	0	TUBA3E	130668146	1.000000	0.71417	0.986000	0.45419	0.261000	0.26267	4.935000	0.63498	0.570000	0.29347	-0.516000	0.04426	GCC		PASS	0.592	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		36	126	36	126	---	---	---	---
PKP4	8502	broad.mit.edu	37	2	159535159	159535159	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr2:159535159G>A	ENST00000389759.3	+	21	3435	c.3323G>A	c.(3322-3324)cGg>cAg	p.R1108Q	AC005042.4_ENST00000342892.4_RNA|AC005042.4_ENST00000442666.1_RNA|PKP4_ENST00000389757.3_Missense_Mutation_p.R1065Q	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	1108					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)		p.R1108Q(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CAAAATAGACGGCTACAGGTG	0.398										HNSCC(62;0.18)																												uc002tzv.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)	7						c.(3322-3324)CGG>CAG		plakophilin 4 isoform a							44.0	45.0	44.0					2																	159535159		2203	4296	6499	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159535159G>A	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.3323G>A	2.37:g.159535159G>A	ENSP00000374409:p.Arg1108Gln	HNSCC(62;0.18)				PKP4_uc002tzw.2_Missense_Mutation_p.R1065Q|PKP4_uc002tzx.2_Missense_Mutation_p.R765Q|PKP4_uc002uaa.2_Missense_Mutation_p.R917Q|uc002uab.1_Intron|PKP4_uc002uac.2_Missense_Mutation_p.R289Q|PKP4_uc002uad.2_RNA	p.R1108Q	NM_003628	NP_003619	Q99569	PKP4_HUMAN			21	3583	+			1108					Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.3323G>A	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	G	36	5.604926	0.96626	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	T;T	0.74947	-0.89;-0.85	5.83	5.83	0.93111	.	0.130249	0.51477	D	0.000096	T	0.76637	0.4015	L	0.27053	0.805	0.80722	D	1	D;D;D	0.71674	0.994;0.997;0.998	P;P;P	0.55871	0.578;0.786;0.775	T	0.77459	-0.2580	10	0.52906	T	0.07	-14.9775	20.1184	0.97949	0.0:0.0:1.0:0.0	.	1063;1065;1108	Q4W5T8;Q99569-2;Q99569	.;.;PKP4_HUMAN	Q	1065;1108	ENSP00000374407:R1065Q;ENSP00000374409:R1108Q	ENSP00000374407:R1065Q	R	+	2	0	PKP4	159243405	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.110000	0.77069	2.769000	0.95229	0.655000	0.94253	CGG		PASS	0.398	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			8	20	8	20	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166901684	166901684	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr2:166901684C>T	ENST00000303395.4	-	10	1530	c.1531G>A	c.(1531-1533)Ggt>Agt	p.G511S	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.G511S|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.G511S|SCN1A_ENST00000409050.1_Missense_Mutation_p.G511S			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	511					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.G511S(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTTCCCCACCAGACTGCTCT	0.448																																						uc010zcz.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(1531-1533)GGT>AGT		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						263.0	265.0	265.0					2																	166901684		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166901684C>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1531G>A	2.37:g.166901684C>T	ENSP00000303540:p.Gly511Ser					SCN1A_uc002udo.3_Missense_Mutation_p.G380S|SCN1A_uc010fpk.2_Missense_Mutation_p.G380S	p.G511S	NM_006920	NP_008851	P35498	SCN1A_HUMAN			10	1549	-			511					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.1531G>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112001	0.56398	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	6.17	5.29	0.74685	Domain of unknown function DUF3451 (1);	0.365527	0.27447	N	0.019336	T	0.23330	0.0564	N	0.17800	0.525	0.42169	D	0.991639	P;P;B	0.42735	0.748;0.788;0.089	B;P;B	0.48368	0.345;0.575;0.092	T	0.01492	-1.1341	10	0.12430	T	0.62	.	15.6816	0.77373	0.0:0.9331:0.0:0.0669	.	511;511;511	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	S	511	ENSP00000407030:G511S;ENSP00000303540:G511S;ENSP00000364554:G511S;ENSP00000386312:G511S	ENSP00000303540:G511S	G	-	1	0	SCN1A	166609930	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.714000	0.68422	2.941000	0.99782	0.655000	0.94253	GGT		PASS	0.448	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		32	71	32	71	---	---	---	---
DLX1	1745	broad.mit.edu	37	2	172951530	172951530	+	Silent	SNP	T	T	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr2:172951530T>G	ENST00000361725.4	+	2	914	c.462T>G	c.(460-462)gcT>gcG	p.A154A	DLX1_ENST00000341900.6_Intron	NM_178120.4	NP_835221.2	P56177	DLX1_HUMAN	distal-less homeobox 1	154					cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic skeletal system development (GO:0048706)|hippocampus development (GO:0021766)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.A154A(1)		central_nervous_system(1)|lung(4)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.216)			AGTACCTAGCTCTGCCGGAGA	0.582																																						uc002uhl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(460-462)GCT>GCG		distal-less homeobox 1 isoform 1							114.0	127.0	123.0					2																	172951530		2203	4300	6503	SO:0001819	synonymous_variant	1745					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:172951530T>G	BC013010	CCDS2247.2, CCDS33328.1	2q31.1	2011-06-20	2005-12-22		ENSG00000144355	ENSG00000144355		"""Homeoboxes / ANTP class : NKL subclass"""	2914	protein-coding gene	gene with protein product		600029	"""distal-less homeo box 1"""			7907794	Standard	NM_001038493		Approved		uc002uhl.3	P56177	OTTHUMG00000073951	ENST00000361725.4:c.462T>G	2.37:g.172951530T>G						DLX1_uc010fqj.1_Silent_p.A154A|DLX1_uc002uhm.2_Intron	p.A154A	NM_178120	NP_835221	P56177	DLX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		2	660	+			154			Homeobox.		D3DPD7|Q53ZU4|Q7Z724|Q8IYB2	Silent	SNP	ENST00000361725.4	37	c.462T>G	CCDS2247.2																																																																																				PASS	0.582	DLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405916.1	XM_087198		35	95	35	95	---	---	---	---
ATP5G3	518	broad.mit.edu	37	2	176043809	176043809	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr2:176043809C>A	ENST00000284727.4	-	4	3314	c.290G>T	c.(289-291)gGc>gTc	p.G97V	ATP5G3_ENST00000392541.3_Missense_Mutation_p.G97V|Y_RNA_ENST00000363251.1_RNA|ATP5G3_ENST00000409194.1_Missense_Mutation_p.G97V	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)	97					ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.G97V(1)		large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			GATAAGGCTGCCAAAGACTGT	0.423																																					GBM(30;387 605 18606 28805 47989)	uc002ujz.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(289-291)GGC>GTC		ATP synthase, H+ transporting, mitochondrial F0							107.0	100.0	103.0					2																	176043809		2203	4300	6503	SO:0001583	missense	518				ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding	g.chr2:176043809C>A	BC106881	CCDS2263.1	2q31.1	2012-10-12	2010-06-11		ENSG00000154518	ENSG00000154518		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	843	protein-coding gene	gene with protein product		602736	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) isoform 3"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9)"""			7698763	Standard	NM_001002258		Approved		uc002ujz.4	P48201	OTTHUMG00000132425	ENST00000284727.4:c.290G>T	2.37:g.176043809C>A	ENSP00000284727:p.Gly97Val					ATP5G3_uc002uka.3_Missense_Mutation_p.G97V|ATP5G3_uc002ukb.1_Missense_Mutation_p.G97V	p.G97V	NM_001002258	NP_001002258	P48201	AT5G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.147)		3	560	-			97			Helical; (Potential).		B2R4Z0|D3DPF0|Q4ZFX7	Missense_Mutation	SNP	ENST00000284727.4	37	c.290G>T	CCDS2263.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054352	0.93793	.	.	ENSG00000154518	ENST00000284727;ENST00000409194;ENST00000392541	T;T;T	0.46819	0.86;0.86;0.86	5.66	5.66	0.87406	ATPase, F0/V0 complex, subunit C (3);	0.000000	0.85682	D	0.000000	T	0.79149	0.4397	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84571	0.0655	10	0.87932	D	0	-19.2376	19.8286	0.96626	0.0:1.0:0.0:0.0	.	97	P48201	AT5G3_HUMAN	V	97	ENSP00000284727:G97V;ENSP00000387317:G97V;ENSP00000376324:G97V	ENSP00000284727:G97V	G	-	2	0	ATP5G3	175752055	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.815000	0.86186	2.701000	0.92244	0.644000	0.83932	GGC		PASS	0.423	ATP5G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255563.1	NM_001689		10	47	10	47	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179596503	179596503	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr2:179596503A>G	ENST00000591111.1	-	56	16372	c.16148T>C	c.(16147-16149)gTa>gCa	p.V5383A	TTN_ENST00000342992.6_Missense_Mutation_p.V4456A|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V5700A|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12202	Ig-like 34.				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.V4456A(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)			ATCTGCAGCTACAAACTTGAG	0.478																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(13366-13368)GTA>GCA		titin isoform N2-A							113.0	114.0	113.0					2																	179596503		1952	4151	6103	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179596503A>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.16148T>C	2.37:g.179596503A>G	ENSP00000465570:p.Val5383Ala					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V1117A	p.V4456A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		55	13591	-			5383					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.13367T>C		.	.	.	.	.	.	.	.	.	.	A	10.39	1.337594	0.24253	.	.	ENSG00000155657	ENST00000342992	T	0.65364	-0.15	5.93	3.43	0.39272	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44891	0.1315	N	0.17345	0.48	0.80722	D	1	B	0.16802	0.019	B	0.19148	0.024	T	0.41858	-0.9485	9	0.87932	D	0	.	9.606	0.39634	0.4505:0.0:0.0:0.5495	.	5383	Q8WZ42	TITIN_HUMAN	A	4456	ENSP00000343764:V4456A	ENSP00000343764:V4456A	V	-	2	0	TTN	179304748	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	4.592000	0.61027	1.059000	0.40554	0.533000	0.62120	GTA		PASS	0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		17	115	17	115	---	---	---	---
ZNF385B	151126	broad.mit.edu	37	2	180634369	180634369	+	Silent	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr2:180634369C>T	ENST00000410066.1	-	3	717	c.114G>A	c.(112-114)gtG>gtA	p.V38V		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	38	Required for induction of apoptosis.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)	p.V38V(1)		breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GGATGTTGCACACCTCACAGA	0.507																																					Colon(155;204 2491 32774 51842)	uc002unn.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(112-114)GTG>GTA		zinc finger protein 385B isoform 1							95.0	88.0	91.0					2																	180634369		2203	4300	6503	SO:0001819	synonymous_variant	151126					nucleus	nucleic acid binding|zinc ion binding	g.chr2:180634369C>T	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.114G>A	2.37:g.180634369C>T							p.V38V	NM_152520	NP_689733	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		3	718	-			38			Matrin-type 1.		Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Silent	SNP	ENST00000410066.1	37	c.114G>A	CCDS33339.1																																																																																				PASS	0.507	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		15	36	15	36	---	---	---	---
CERKL	375298	broad.mit.edu	37	2	182438605	182438605	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr2:182438605G>A	ENST00000339098.5	-	3	487	c.488C>T	c.(487-489)cCa>cTa	p.P163L	CERKL_ENST00000374969.2_Intron|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000410087.3_Missense_Mutation_p.P163L|CERKL_ENST00000374970.2_Missense_Mutation_p.P163L|CERKL_ENST00000409440.3_Intron			Q49MI3	CERKL_HUMAN	ceramide kinase-like	163					negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.P163L(2)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGGTCTGTTTGGAAAGCCTAA	0.338																																						uc002unx.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|kidney(1)|skin(1)	4						c.(487-489)CCA>CTA		ceramide kinase-like isoform b							69.0	78.0	75.0					2																	182438605		2203	4298	6501	SO:0001583	missense	375298				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity	g.chr2:182438605G>A	BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.488C>T	2.37:g.182438605G>A	ENSP00000341159:p.Pro163Leu					CERKL_uc002uny.2_Missense_Mutation_p.P163L|CERKL_uc010zfm.1_Intron|CERKL_uc002unz.2_5'UTR|CERKL_uc002uoa.2_Missense_Mutation_p.P163L|CERKL_uc002uob.2_Intron|CERKL_uc002uoc.2_Intron|CERKL_uc010frk.2_Intron|CERKL_uc002uod.1_5'UTR|CERKL_uc002uoe.2_Missense_Mutation_p.P163L	p.P163L	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		3	589	-			163					B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP	ENST00000339098.5	37	c.488C>T	CCDS42789.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673348	0.47781	.	.	ENSG00000188452	ENST00000410087;ENST00000339098;ENST00000374970	T;T;T	0.30448	2.27;2.54;1.53	5.94	5.94	0.96194	.	0.494779	0.21628	N	0.071539	T	0.21387	0.0515	N	0.19112	0.55	0.41300	D	0.987037	B;B;B	0.27416	0.178;0.063;0.121	B;B;B	0.24394	0.053;0.034;0.023	T	0.07385	-1.0775	10	0.19590	T	0.45	.	15.9926	0.80217	0.0:0.0:0.8574:0.1426	.	163;163;163	Q49MI3-3;Q49MI3-2;Q49MI3	.;.;CERKL_HUMAN	L	163	ENSP00000386725:P163L;ENSP00000341159:P163L;ENSP00000364109:P163L	ENSP00000341159:P163L	P	-	2	0	CERKL	182146850	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	2.954000	0.49113	2.822000	0.97130	0.557000	0.71058	CCA		PASS	0.338	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1			14	60	14	60	---	---	---	---
FAM171B	165215	broad.mit.edu	37	2	187615909	187615909	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr2:187615909T>A	ENST00000304698.5	+	5	976	c.773T>A	c.(772-774)aTa>aAa	p.I258K		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	258						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.I258K(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGTGTGAAAATATATTCTGGA	0.353																																						uc002ups.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(3)|central_nervous_system(1)	10						c.(772-774)ATA>AAA		KIAA1946							114.0	126.0	122.0					2																	187615909		2203	4300	6503	SO:0001583	missense	165215					integral to membrane	DNA binding	g.chr2:187615909T>A	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.773T>A	2.37:g.187615909T>A	ENSP00000304108:p.Ile258Lys					FAM171B_uc002upr.1_Missense_Mutation_p.I258K	p.I258K	NM_177454	NP_803237	Q6P995	F171B_HUMAN			5	885	+			258			Extracellular (Potential).		Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	c.773T>A	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	T	16.84	3.233714	0.58886	.	.	ENSG00000144369	ENST00000304698;ENST00000272804	T	0.34859	1.34	5.53	4.35	0.52113	.	0.182520	0.48767	D	0.000173	T	0.30823	0.0777	L	0.50333	1.59	0.58432	D	0.999999	P;P	0.38335	0.627;0.627	B;B	0.33799	0.17;0.17	T	0.10222	-1.0639	10	0.87932	D	0	-25.7192	10.5244	0.44938	0.1444:0.0:0.0:0.8556	.	258;259	Q6P995;A8K122	F171B_HUMAN;.	K	258	ENSP00000304108:I258K	ENSP00000272804:I258K	I	+	2	0	FAM171B	187324154	0.999000	0.42202	0.998000	0.56505	0.988000	0.76386	4.667000	0.61561	0.904000	0.36572	0.496000	0.49642	ATA		PASS	0.353	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		33	88	33	88	---	---	---	---
IKZF2	22807	broad.mit.edu	37	2	213921675	213921675	+	Silent	SNP	G	G	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr2:213921675G>C	ENST00000434687.1	-	5	597	c.288C>G	c.(286-288)gtC>gtG	p.V96V	IKZF2_ENST00000421754.2_Silent_p.V96V|IKZF2_ENST00000374319.4_Silent_p.V96V|IKZF2_ENST00000457361.1_Silent_p.V96V|IKZF2_ENST00000451136.2_Silent_p.V96V|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000342002.2_Silent_p.V102V|IKZF2_ENST00000413091.3_Silent_p.V96V			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	96					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V96V(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		GAAGCTCCTGGACTTTCCTGT	0.532																																						uc002vem.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(286-288)GTC>GTG		helios isoform 1							134.0	119.0	124.0					2																	213921675		2203	4300	6503	SO:0001819	synonymous_variant	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213921675G>C	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.288C>G	2.37:g.213921675G>C						IKZF2_uc010fuu.2_Intron|IKZF2_uc002vej.2_Silent_p.V43V|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Silent_p.V96V|IKZF2_uc002vel.2_Silent_p.V43V|IKZF2_uc010fuw.2_5'UTR|IKZF2_uc010fux.2_Intron|IKZF2_uc010fuy.2_Silent_p.V96V|IKZF2_uc002ven.2_Silent_p.V96V	p.V96V	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	4	457	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	96					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Silent	SNP	ENST00000434687.1	37	c.288C>G	CCDS2395.1																																																																																				PASS	0.532	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		21	38	21	38	---	---	---	---
PNKD	25953	broad.mit.edu	37	2	219204777	219204777	+	Silent	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr2:219204777C>A	ENST00000273077.4	+	4	429	c.378C>A	c.(376-378)gtC>gtA	p.V126V	PNKD_ENST00000436005.2_Silent_p.V66V|AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000258362.3_Silent_p.V102V	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	126					glutathione biosynthetic process (GO:0006750)|neuromuscular process controlling posture (GO:0050884)|regulation of dopamine metabolic process (GO:0042053)|regulation of synaptic transmission, dopaminergic (GO:0032225)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)	p.V126V(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCATCCCTGTCCTCTCGGACA	0.647																																						uc002vhn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(376-378)GTC>GTA		myofibrillogenesis regulator 1 isoform 1							89.0	72.0	77.0					2																	219204777		2203	4300	6503	SO:0001819	synonymous_variant	25953					membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding	g.chr2:219204777C>A		CCDS2411.1, CCDS2413.1, CCDS42816.1	2q35	2011-01-21	2007-07-12		ENSG00000127838	ENSG00000127838			9153	protein-coding gene	gene with protein product	"""myofibrillogenesis regulator 1"""	609023	"""paroxysmal nonkinesiogenic dyskinesia"""			8659518	Standard	NM_015488		Approved	DYT8, PDC, DKFZp564N1362, FPD1, MR-1, BRP17, FKSG19, TAHCCP2, KIAA1184, KIPP1184, MGC31943, PKND1	uc002vhn.3	Q8N490	OTTHUMG00000133110	ENST00000273077.4:c.378C>A	2.37:g.219204777C>A						PNKD_uc002vhq.2_Silent_p.V102V	p.V126V	NM_015488	NP_056303	Q8N490	PNKD_HUMAN		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	522	+		Renal(207;0.0474)	126					A8K1F2|Q96A48|Q9BU26|Q9NSX4|Q9ULN6|Q9Y4T1	Silent	SNP	ENST00000273077.4	37	c.378C>A	CCDS2411.1																																																																																				PASS	0.647	PNKD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256775.2			4	37	4	37	---	---	---	---
CNPPD1	27013	broad.mit.edu	37	2	220039778	220039778	+	Missense_Mutation	SNP	G	G	A	rs551627689		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr2:220039778G>A	ENST00000409789.1	-	5	740	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W	CNPPD1_ENST00000360507.5_Missense_Mutation_p.R105W			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	105					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	integral component of membrane (GO:0016021)		p.R105W(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						TGCCGGAGCCGTTCAATGTAC	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		19991	0.0		0.0	False		,,,				2504	0.001					uc002vju.3																			1	Substitution - Missense(1)		lung(1)		0						c.(313-315)CGG>TGG		hypothetical protein LOC27013							131.0	122.0	125.0					2																	220039778		2203	4300	6503	SO:0001583	missense	27013				regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding	g.chr2:220039778G>A	AF070638	CCDS2433.1	2q36	2011-03-23	2011-03-23	2011-03-23	ENSG00000115649	ENSG00000115649			25220	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 24"""	C2orf24		8619474, 9110174	Standard	NM_015680		Approved	CGI-57	uc002vju.4	Q9BV87	OTTHUMG00000133132	ENST00000409789.1:c.313C>T	2.37:g.220039778G>A	ENSP00000386277:p.Arg105Trp					C2orf24_uc002vjv.2_Missense_Mutation_p.R105W	p.R105W	NM_015680	NP_056495	Q9BV87	CNPD1_HUMAN		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	465	-		Renal(207;0.0915)	105					B2RC77|O75548|Q9H4N0|Q9UQN0	Missense_Mutation	SNP	ENST00000409789.1	37	c.313C>T	CCDS2433.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095575	0.76870	.	.	ENSG00000115649	ENST00000360507;ENST00000409789;ENST00000453038;ENST00000451647	T;T;T	0.62232	0.04;0.04;0.04	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.80752	0.4683	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83842	0.0258	10	0.87932	D	0	-9.5246	10.4327	0.44417	0.0:0.0:0.658:0.342	.	105	Q9BV87	CNPD1_HUMAN	W	105	ENSP00000353698:R105W;ENSP00000386277:R105W;ENSP00000410109:R105W	ENSP00000353698:R105W	R	-	1	2	CNPPD1	219748022	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.746000	0.47467	2.313000	0.78055	0.561000	0.74099	CGG		PASS	0.527	CNPPD1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336220.1	NM_015680		29	52	29	52	---	---	---	---
NYAP2	57624	broad.mit.edu	37	2	226516205	226516205	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr2:226516205C>T	ENST00000272907.6	+	6	2299	c.1886C>T	c.(1885-1887)cCa>cTa	p.P629L		NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	629					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.P629L(1)									GTGCCTCCTCCATCAGTCACT	0.493																																						uc002voe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1885-1887)CCA>CTA		hypothetical protein LOC57624							211.0	214.0	213.0					2																	226516205		2136	4250	6386	SO:0001583	missense	57624							g.chr2:226516205C>T	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1886C>T	2.37:g.226516205C>T	ENSP00000272907:p.Pro629Leu					KIAA1486_uc010fxa.1_3'UTR|KIAA1486_uc002vof.1_Missense_Mutation_p.P399L	p.P629L	NM_020864	NP_065915	Q9P242	K1486_HUMAN		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)	6	2061	+		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)	629					A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.1886C>T	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941038	0.53079	.	.	ENSG00000144460	ENST00000272907	T	0.32988	1.43	5.72	4.84	0.62591	.	0.655113	0.14803	N	0.297513	T	0.44222	0.1283	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.45804	-0.9236	10	0.87932	D	0	-4.0E-4	16.0816	0.81007	0.1352:0.8648:0.0:0.0	.	143;629	Q9P242-3;Q9P242	.;K1486_HUMAN	L	629	ENSP00000272907:P629L	ENSP00000272907:P629L	P	+	2	0	KIAA1486	226224449	1.000000	0.71417	0.889000	0.34880	0.318000	0.28184	5.677000	0.68142	1.407000	0.46875	-0.319000	0.08680	CCA		PASS	0.493	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		76	122	76	122	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228881839	228881839	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr2:228881839G>T	ENST00000392056.3	-	7	3777	c.3731C>A	c.(3730-3732)tCc>tAc	p.S1244Y	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1244Y	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1244						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.S1244Y(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGAGCATGGGGATCTGCTGTC	0.572																																						uc002vpq.2																			2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(3730-3732)TCC>TAC		sphingosine kinase type 1-interacting protein							68.0	65.0	66.0					2																	228881839		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228881839G>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3731C>A	2.37:g.228881839G>T	ENSP00000375909:p.Ser1244Tyr					SPHKAP_uc002vpp.2_Missense_Mutation_p.S1244Y|SPHKAP_uc010zlx.1_Missense_Mutation_p.S1244Y	p.S1244Y	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	3778	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1244					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.3731C>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620685	0.46736	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.46063	0.88;0.88	6.08	6.08	0.98989	.	0.267928	0.44483	D	0.000454	T	0.65176	0.2666	M	0.66939	2.045	0.35961	D	0.834581	D;D;D	0.89917	0.999;0.998;1.0	D;P;D	0.71414	0.914;0.87;0.973	T	0.70612	-0.4824	10	0.87932	D	0	.	19.6516	0.95815	0.0:0.0:1.0:0.0	.	275;1244;1244	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	Y	1244	ENSP00000375909:S1244Y;ENSP00000339886:S1244Y	ENSP00000339886:S1244Y	S	-	2	0	SPHKAP	228590083	0.998000	0.40836	0.011000	0.14972	0.192000	0.23643	6.116000	0.71571	2.894000	0.99253	0.655000	0.94253	TCC		PASS	0.572	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		27	40	27	40	---	---	---	---
GIGYF2	26058	broad.mit.edu	37	2	233704607	233704607	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr2:233704607C>G	ENST00000409547.1	+	25	3126	c.2815C>G	c.(2815-2817)Cag>Gag	p.Q939E	GIGYF2_ENST00000452341.2_Missense_Mutation_p.Q770E|GIGYF2_ENST00000373563.4_Missense_Mutation_p.Q939E|GIGYF2_ENST00000409196.3_Missense_Mutation_p.Q933E|GIGYF2_ENST00000409451.3_Missense_Mutation_p.Q960E|GIGYF2_ENST00000373566.3_Missense_Mutation_p.Q961E|GIGYF2_ENST00000409480.1_Missense_Mutation_p.Q961E	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	939	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.Q939E(1)|p.Q960E(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AACAGCATGTCAGTCCCAGGC	0.458																																						uc002vti.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(3)	7						c.(2815-2817)CAG>GAG		GRB10 interacting GYF protein 2 isoform b							85.0	82.0	83.0					2																	233704607		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233704607C>G	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2815C>G	2.37:g.233704607C>G	ENSP00000386537:p.Gln939Glu					GIGYF2_uc002vtj.3_Missense_Mutation_p.Q960E|GIGYF2_uc002vtk.3_Missense_Mutation_p.Q939E|GIGYF2_uc002vth.3_Missense_Mutation_p.Q933E|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Missense_Mutation_p.Q770E|GIGYF2_uc002vtq.3_Missense_Mutation_p.Q272E	p.Q939E	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	25	3152	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	939			Gln-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.2815C>G	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463918	0.84425	.	.	ENSG00000204120	ENST00000373566;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000409196;ENST00000409451;ENST00000452341	T;T;T;T;T;T;T	0.75477	-0.71;-0.71;-0.71;-0.71;-0.71;-0.7;-0.94	5.39	5.39	0.77823	.	0.055987	0.64402	D	0.000001	T	0.77253	0.4103	L	0.39898	1.24	0.58432	D	0.999997	D;P;P;P	0.55385	0.971;0.779;0.634;0.634	P;B;B;B	0.54815	0.761;0.281;0.281;0.281	T	0.76329	-0.2999	10	0.39692	T	0.17	-14.0261	17.3418	0.87298	0.0:1.0:0.0:0.0	.	770;960;939;933	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	E	961;939;961;939;933;960;770	ENSP00000362667:Q961E;ENSP00000362664:Q939E;ENSP00000386765:Q961E;ENSP00000386537:Q939E;ENSP00000387070:Q933E;ENSP00000387170:Q960E;ENSP00000411505:Q770E	ENSP00000362664:Q939E	Q	+	1	0	GIGYF2	233412851	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	7.277000	0.78572	2.517000	0.84864	0.650000	0.86243	CAG		PASS	0.458	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		21	27	21	27	---	---	---	---
RPL32	6161	broad.mit.edu	37	3	12880933	12880933	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr3:12880933T>C	ENST00000429711.2	-	3	292	c.193A>G	c.(193-195)Aaa>Gaa	p.K65E	RPL32_ENST00000396957.1_Missense_Mutation_p.K65E|RPL32_ENST00000435983.1_Missense_Mutation_p.K65E|RPL32_ENST00000273223.6_Missense_Mutation_p.K83E|SNORA7A_ENST00000384765.1_RNA|RPL32_ENST00000396953.2_Missense_Mutation_p.K65E	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN	ribosomal protein L32	65					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.K65E(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						TGCTTTGTTTTTTTGTTGCTT	0.507																																						uc003bxl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(193-195)AAA>GAA		ribosomal protein L32							190.0	193.0	192.0					3																	12880933		2203	4300	6503	SO:0001583	missense	6161				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome	g.chr3:12880933T>C	CA436299, CF124158, CR608027	CCDS2614.1	3q13.3-q21	2011-04-06			ENSG00000144713	ENSG00000144713		"""L ribosomal proteins"""	10336	protein-coding gene	gene with protein product						9284913	Standard	NM_001007073		Approved	L32	uc003bxl.3	P62910	OTTHUMG00000129804	ENST00000429711.2:c.193A>G	3.37:g.12880933T>C	ENSP00000416429:p.Lys65Glu					RPL32_uc003bxm.2_Missense_Mutation_p.K65E|RPL32_uc003bxn.2_Missense_Mutation_p.K65E	p.K65E	NM_001007074	NP_001007075	P62910	RL32_HUMAN			2	406	-			65					B2R4Q3|P02433	Missense_Mutation	SNP	ENST00000429711.2	37	c.193A>G	CCDS2614.1	.	.	.	.	.	.	.	.	.	.	T	15.21	2.765254	0.49574	.	.	ENSG00000144713	ENST00000429711;ENST00000396957;ENST00000273223;ENST00000435983;ENST00000396953;ENST00000457131	.	.	.	3.95	3.95	0.45737	.	0.000000	0.85682	D	0.000000	T	0.56171	0.1967	L	0.53780	1.695	0.80722	D	1	B	0.11235	0.004	B	0.19148	0.024	T	0.57997	-0.7714	9	0.56958	D	0.05	-17.1389	10.8168	0.46580	0.0:0.0:0.0:1.0	.	65	P62910	RL32_HUMAN	E	65;65;83;65;65;65	.	ENSP00000339064:K83E	K	-	1	0	RPL32	12855933	1.000000	0.71417	0.992000	0.48379	0.568000	0.35870	7.609000	0.82925	1.633000	0.50488	0.383000	0.25322	AAA		PASS	0.507	RPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252032.2	NM_000994		7	214	7	214	---	---	---	---
EFHB	151651	broad.mit.edu	37	3	19956850	19956850	+	Silent	SNP	T	T	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr3:19956850T>C	ENST00000295824.9	-	5	1394	c.1233A>G	c.(1231-1233)aaA>aaG	p.K411K	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Silent_p.K281K	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	411							calcium ion binding (GO:0005509)	p.K411K(1)|p.K409K(1)		breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CATTTCCTTCTTTAAATACTT	0.363																																						uc003cbl.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(1231-1233)AAA>AAG		EF hand domain family, member B							100.0	97.0	98.0					3																	19956850		2202	4299	6501	SO:0001819	synonymous_variant	151651				signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr3:19956850T>C	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.1233A>G	3.37:g.19956850T>C						EFHB_uc003cbm.2_Silent_p.K281K	p.K411K	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN			5	1429	-			411					A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Silent	SNP	ENST00000295824.9	37	c.1233A>G	CCDS33715.2																																																																																				PASS	0.363	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715		4	14	4	14	---	---	---	---
TGFBR2	7048	broad.mit.edu	37	3	30713559	30713559	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr3:30713559C>G	ENST00000295754.5	+	4	1266	c.884C>G	c.(883-885)tCa>tGa	p.S295*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.S320*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	295	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.S295*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GACATCTTCTCAGACATCAAT	0.493																																						uc003ceo.2																			1	Substitution - Nonsense(1)		lung(1)	pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						c.(883-885)TCA>TGA		transforming growth factor, beta receptor II							123.0	115.0	118.0					3																	30713559		2203	4300	6503	SO:0001587	stop_gained	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30713559C>G		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.884C>G	3.37:g.30713559C>G	ENSP00000295754:p.Ser295*					TGFBR2_uc003cen.2_Nonsense_Mutation_p.S320*	p.S295*	NM_003242	NP_003233	P37173	TGFR2_HUMAN			4	1266	+			295			Protein kinase.|Cytoplasmic (Potential).		B4DTV5|Q15580|Q6DKT6|Q99474	Nonsense_Mutation	SNP	ENST00000295754.5	37	c.884C>G	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	C	40	8.331796	0.98764	.	.	ENSG00000163513	ENST00000295754;ENST00000359013	.	.	.	5.02	5.02	0.67125	.	0.118890	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.3462	0.90322	0.0:1.0:0.0:0.0	.	.	.	.	X	295;320	.	ENSP00000295754:S295X	S	+	2	0	TGFBR2	30688563	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	5.947000	0.70242	2.317000	0.78254	0.655000	0.94253	TCA		PASS	0.493	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			25	39	25	39	---	---	---	---
XYLB	9942	broad.mit.edu	37	3	38406756	38406756	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr3:38406756C>T	ENST00000207870.3	+	5	448	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	XYLB_ENST00000542835.1_5'UTR	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	120					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)	p.R120W(1)		endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		ACCAGACCTCCGGCTACACCA	0.542																																						uc003cic.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(358-360)CGG>TGG		xylulokinase							95.0	89.0	91.0					3																	38406756		2203	4300	6503	SO:0001583	missense	9942				D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity	g.chr3:38406756C>T	AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"""xylulokinase (H. influenzae) homolog"""			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.358C>T	3.37:g.38406756C>T	ENSP00000207870:p.Arg120Trp					XYLB_uc011ayp.1_5'UTR|XYLB_uc003cid.1_Missense_Mutation_p.R42W	p.R120W	NM_005108	NP_005099	O75191	XYLB_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)	5	467	+			120					B2RAW4|B4DDT2|B9EH64	Missense_Mutation	SNP	ENST00000207870.3	37	c.358C>T	CCDS2678.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539022	0.45176	.	.	ENSG00000093217	ENST00000207870	T	0.14640	2.49	4.64	2.83	0.33086	Carbohydrate kinase, FGGY, N-terminal (1);	0.623212	0.17649	N	0.166754	T	0.20414	0.0491	L	0.47190	1.495	0.09310	N	0.999997	P	0.42409	0.779	P	0.51453	0.67	T	0.04041	-1.0982	10	0.54805	T	0.06	.	9.1343	0.36863	0.0:0.8174:0.0:0.1826	.	120	O75191	XYLB_HUMAN	W	120	ENSP00000207870:R120W	ENSP00000207870:R120W	R	+	1	2	XYLB	38381760	0.809000	0.29036	0.092000	0.20876	0.910000	0.53928	1.767000	0.38501	0.501000	0.28013	0.542000	0.68232	CGG		PASS	0.542	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2	NM_005108		12	36	12	36	---	---	---	---
MST1R	4486	broad.mit.edu	37	3	49928037	49928037	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr3:49928037G>A	ENST00000296474.3	-	18	3718	c.3691C>T	c.(3691-3693)Cgc>Tgc	p.R1231C	MST1R_ENST00000344206.4_Missense_Mutation_p.R1182C	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1231	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)	p.R1231C(2)		cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		AGGATGTCGCGGGCCAAACCA	0.557																																						uc003cxy.3																			2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(1)	6						c.(3691-3693)CGC>TGC		macrophage stimulating 1 receptor precursor							134.0	107.0	116.0					3																	49928037		2203	4300	6503	SO:0001583	missense	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49928037G>A	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3691C>T	3.37:g.49928037G>A	ENSP00000296474:p.Arg1231Cys					MST1R_uc011bdc.1_Missense_Mutation_p.R110C	p.R1231C	NM_002447	NP_002438	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	18	3955	-			1231			Cytoplasmic (Potential).|Protein kinase.		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	c.3691C>T	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641876	0.67244	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	D;D	0.85484	-1.99;-1.99	5.41	4.5	0.54988	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	D	0.93080	0.7797	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93692	0.7008	10	0.87932	D	0	-23.0284	13.4503	0.61167	0.0:0.0:0.6487:0.3513	.	1231	Q04912	RON_HUMAN	C	1231;1182	ENSP00000296474:R1231C;ENSP00000341325:R1182C	ENSP00000296474:R1231C	R	-	1	0	MST1R	49903041	1.000000	0.71417	0.996000	0.52242	0.662000	0.39071	3.070000	0.50033	2.826000	0.97356	0.561000	0.74099	CGC		PASS	0.557	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			13	16	13	16	---	---	---	---
RBM6	10180	broad.mit.edu	37	3	50114516	50114516	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr3:50114516C>T	ENST00000266022.4	+	21	3581	c.3322C>T	c.(3322-3324)Cga>Tga	p.R1108*	RBM6_ENST00000539992.1_Nonsense_Mutation_p.R450*|RBM6_ENST00000421682.1_Nonsense_Mutation_p.R104*|RBM6_ENST00000443081.1_Nonsense_Mutation_p.R976*|RBM6_ENST00000442092.1_Nonsense_Mutation_p.R586*|RBM6_ENST00000422955.1_Nonsense_Mutation_p.R586*	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	1108					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R1108*(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CGAGACTTACCGAGATGCTGT	0.458																																						uc003cyc.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(3322-3324)CGA>TGA		RNA binding motif protein 6							93.0	87.0	89.0					3																	50114516		2203	4300	6503	SO:0001587	stop_gained	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50114516C>T	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.3322C>T	3.37:g.50114516C>T	ENSP00000266022:p.Arg1108*					RBM6_uc003cyd.2_Nonsense_Mutation_p.R586*|RBM6_uc003cye.2_Nonsense_Mutation_p.R586*|RBM6_uc011bdi.1_Nonsense_Mutation_p.R450*|RBM6_uc010hld.1_Intron|RBM6_uc010hle.1_Intron|RBM6_uc010hlf.1_Intron	p.R1108*	NM_005777	NP_005768	P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	21	3455	+			1108					O60549|O75524|Q86SS3	Nonsense_Mutation	SNP	ENST00000266022.4	37	c.3322C>T	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	C	38	7.280107	0.98182	.	.	ENSG00000004534	ENST00000442092;ENST00000266022;ENST00000443081;ENST00000539992;ENST00000422955;ENST00000421682	.	.	.	5.72	4.84	0.62591	.	0.073354	0.53938	D	0.000042	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.3117	14.294	0.66300	0.1484:0.8516:0.0:0.0	.	.	.	.	X	586;1108;976;450;586;104	.	.	R	+	1	2	RBM6	50089520	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	1.591000	0.36665	1.401000	0.46761	0.561000	0.74099	CGA		PASS	0.458	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		8	21	8	21	---	---	---	---
PRKCD	5580	broad.mit.edu	37	3	53212538	53212538	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr3:53212538G>C	ENST00000394729.2	+	2	428	c.100G>C	c.(100-102)Gag>Cag	p.E34Q	PRKCD_ENST00000330452.3_Missense_Mutation_p.E34Q|PRKCD_ENST00000477794.2_3'UTR	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	34	C2.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.E34Q(2)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	GAAGATGAAGGAGGCGCTCAG	0.657																																						uc003dgl.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9						c.(100-102)GAG>CAG		protein kinase C, delta							49.0	43.0	45.0					3																	53212538		2203	4300	6503	SO:0001583	missense	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53212538G>C		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.100G>C	3.37:g.53212538G>C	ENSP00000378217:p.Glu34Gln					PRKCD_uc003dgm.2_Missense_Mutation_p.E34Q|PRKCD_uc003dgn.2_Missense_Mutation_p.E34Q	p.E34Q	NM_006254	NP_006245	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	3	453	+		Ovarian(412;0.0728)	34			C2.		B0KZ81|B2R834|Q15144|Q86XJ6	Missense_Mutation	SNP	ENST00000394729.2	37	c.100G>C	CCDS2870.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820969	0.71028	.	.	ENSG00000163932	ENST00000478843;ENST00000394729;ENST00000330452;ENST00000487897;ENST00000464818	T;T;D	0.86164	-0.7;-0.7;-2.08	4.95	4.07	0.47477	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.048624	0.85682	D	0.000000	D	0.92948	0.7756	M	0.85299	2.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.987	D	0.92352	0.5890	10	0.39692	T	0.17	.	11.9287	0.52835	0.0848:0.0:0.9152:0.0	.	34;34	C9K0E3;Q05655	.;KPCD_HUMAN	Q	34	ENSP00000378217:E34Q;ENSP00000331602:E34Q;ENSP00000419629:E34Q	ENSP00000331602:E34Q	E	+	1	0	PRKCD	53187578	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	9.263000	0.95617	1.336000	0.45506	0.650000	0.86243	GAG		PASS	0.657	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			11	8	11	8	---	---	---	---
PDZRN3	23024	broad.mit.edu	37	3	73433611	73433611	+	Silent	SNP	G	G	A	rs570535127		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr3:73433611G>A	ENST00000263666.4	-	10	2220	c.2106C>T	c.(2104-2106)atC>atT	p.I702I	PDZRN3_ENST00000466780.1_Silent_p.I359I|PDZRN3_ENST00000535920.1_Silent_p.I424I|PDZRN3_ENST00000462146.2_Silent_p.I359I|PDZRN3_ENST00000479530.1_Silent_p.I419I|PDZRN3_ENST00000466348.1_5'Flank	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	702					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I702I(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGGCGCGCACGATGCTCAGGC	0.627																																						uc003dpl.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(2104-2106)ATC>ATT		PDZ domain containing ring finger 3							43.0	37.0	39.0					3																	73433611		2203	4300	6503	SO:0001819	synonymous_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433611G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2106C>T	3.37:g.73433611G>A						PDZRN3_uc011bgh.1_Silent_p.I359I|PDZRN3_uc010hoe.1_Silent_p.I400I|PDZRN3_uc011bgf.1_Silent_p.I419I|PDZRN3_uc011bgg.1_Silent_p.I422I	p.I702I	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2202	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	702			Potential.		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	c.2106C>T	CCDS33789.1																																																																																				PASS	0.627	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		7	15	7	15	---	---	---	---
GPR128	84873	broad.mit.edu	37	3	100362185	100362185	+	Silent	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr3:100362185G>A	ENST00000273352.3	+	7	1042	c.774G>A	c.(772-774)caG>caA	p.Q258Q	SNORA31_ENST00000517180.1_RNA|GPR128_ENST00000475887.1_Intron	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	258					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Q258Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TAGCAATACAGTCAGCAAATT	0.388																																					Pancreas(87;185 1975 7223 18722)	uc003duc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(772-774)CAG>CAA		G protein-coupled receptor 128 precursor							159.0	165.0	163.0					3																	100362185		2203	4300	6503	SO:0001819	synonymous_variant	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100362185G>A	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.774G>A	3.37:g.100362185G>A						GPR128_uc011bhc.1_Intron	p.Q258Q	NM_032787	NP_116176	Q96K78	GP128_HUMAN			7	1042	+			258			Extracellular (Potential).		Q14D94|Q86SQ2	Silent	SNP	ENST00000273352.3	37	c.774G>A	CCDS2938.1																																																																																				PASS	0.388	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			22	91	22	91	---	---	---	---
CD200	4345	broad.mit.edu	37	3	112066467	112066467	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr3:112066467G>T	ENST00000315711.8	+	4	541	c.484G>T	c.(484-486)Gcc>Tcc	p.A162S	CD200_ENST00000473539.1_Missense_Mutation_p.A187S|CD200_ENST00000383681.3_Missense_Mutation_p.A88S	NM_005944.5	NP_005935.4	P41217	OX2G_HUMAN	CD200 molecule	162	Ig-like C2-type.				regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.A187S(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				CACTTGCTCTGCCACTGCCCG	0.468																																						uc003dyw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(559-561)GCC>TCC		CD200 antigen isoform b							126.0	126.0	126.0					3																	112066467		2203	4300	6503	SO:0001583	missense	4345				regulation of immune response	integral to plasma membrane		g.chr3:112066467G>T		CCDS2965.1, CCDS33818.1	3q13.2	2013-09-20	2006-03-28	2004-09-01	ENSG00000091972	ENSG00000091972		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7203	protein-coding gene	gene with protein product		155970	"""antigen identified by monoclonal antibody MRC OX-2"", ""CD200 antigen"""	MOX1, MOX2			Standard	XM_005247482		Approved	MRC, OX-2	uc003dyw.3	P41217	OTTHUMG00000159248	ENST00000315711.8:c.484G>T	3.37:g.112066467G>T	ENSP00000312766:p.Ala162Ser					CD200_uc010hqd.1_Missense_Mutation_p.A46S|CD200_uc003dyx.2_Missense_Mutation_p.A162S|CD200_uc003dyy.2_Missense_Mutation_p.A46S|CD200_uc003dyz.2_Missense_Mutation_p.A88S	p.A187S	NM_001004196	NP_001004196	P41217	OX2G_HUMAN			5	703	+		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)	162			Ig-like C2-type.|Extracellular (Potential).		B3KQI1|B4DLW9|D3DN65|Q6J2Q6|Q6PIQ4|Q8TB85|Q9H3J3	Missense_Mutation	SNP	ENST00000315711.8	37	c.559G>T	CCDS2965.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593089	0.86953	.	.	ENSG00000091972	ENST00000315711;ENST00000473539;ENST00000383681	T;T;T	0.17370	2.28;2.28;2.28	5.46	5.46	0.80206	Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000070	T	0.31734	0.0806	L	0.34521	1.04	0.43390	D	0.995505	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;0.997;0.998;0.998;0.966	T	0.02431	-1.1160	10	0.87932	D	0	-20.3787	14.8143	0.70020	0.0:0.0:1.0:0.0	.	162;88;88;162;187	P41217;F8W7G1;B4DDZ6;P41217-2;P41217-3	OX2G_HUMAN;.;.;.;.	S	162;187;88	ENSP00000312766:A162S;ENSP00000420298:A187S;ENSP00000373179:A88S	ENSP00000312766:A162S	A	+	1	0	CD200	113549157	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.238000	0.65366	2.544000	0.85801	0.655000	0.94253	GCC		PASS	0.468	CD200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354078.1			31	83	31	83	---	---	---	---
C3orf17	25871	broad.mit.edu	37	3	112724646	112724646	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr3:112724646T>C	ENST00000314400.5	-	9	1632	c.1441A>G	c.(1441-1443)Aca>Gca	p.T481A	C3orf17_ENST00000472762.1_5'Flank|C3orf17_ENST00000383675.2_Missense_Mutation_p.T411A|C3orf17_ENST00000393857.2_Missense_Mutation_p.T345A	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	481					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.T481A(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						CTGGTATCTGTAGCACTCTTC	0.433																																						uc003dzr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1441-1443)ACA>GCA		hypothetical protein LOC25871							97.0	89.0	92.0					3																	112724646		2203	4299	6502	SO:0001583	missense	25871					integral to membrane		g.chr3:112724646T>C	AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.1441A>G	3.37:g.112724646T>C	ENSP00000320251:p.Thr481Ala					GTPBP8_uc011bhy.1_Intron|C3orf17_uc003dzq.2_Missense_Mutation_p.T106A|C3orf17_uc011bhz.1_Missense_Mutation_p.T106A|C3orf17_uc010hqh.2_Missense_Mutation_p.T106A|C3orf17_uc003dzt.2_Missense_Mutation_p.T384A|C3orf17_uc003dzs.2_Missense_Mutation_p.T345A|C3orf17_uc010hqg.2_Missense_Mutation_p.T306A|C3orf17_uc011bia.1_Missense_Mutation_p.T278A|C3orf17_uc003dzu.2_Missense_Mutation_p.T410A|C3orf17_uc011bib.1_Missense_Mutation_p.T370A|C3orf17_uc011bic.1_Missense_Mutation_p.T314A|C3orf17_uc011bid.1_RNA	p.T481A	NM_015412	NP_056227	Q6NW34	CC017_HUMAN			9	1502	-			481					D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Missense_Mutation	SNP	ENST00000314400.5	37	c.1441A>G	CCDS33824.1	.	.	.	.	.	.	.	.	.	.	T	1.757	-0.487719	0.04352	.	.	ENSG00000163608	ENST00000314400;ENST00000383675;ENST00000412848;ENST00000393857	T;T;T	0.28895	1.59;1.59;1.59	5.9	-3.85	0.04243	.	0.883887	0.09898	N	0.741413	T	0.09598	0.0236	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.11235	0.002;0.004;0.0;0.002	B;B;B;B	0.11329	0.004;0.006;0.002;0.002	T	0.38286	-0.9668	10	0.08599	T	0.76	0.1884	5.8736	0.18816	0.1189:0.328:0.0:0.5531	.	370;278;411;481	E7EN80;E7EQH6;Q6NW34-2;Q6NW34	.;.;.;CC017_HUMAN	A	481;411;128;345	ENSP00000320251:T481A;ENSP00000373173:T411A;ENSP00000377438:T345A	ENSP00000320251:T481A	T	-	1	0	C3orf17	114207336	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.167000	0.09940	-0.435000	0.07264	-1.125000	0.01998	ACA		PASS	0.433	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	NM_015412		17	33	17	33	---	---	---	---
ZNF80	7634	broad.mit.edu	37	3	113955426	113955426	+	Missense_Mutation	SNP	A	A	G	rs555903765		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr3:113955426A>G	ENST00000482457.2	-	1	999	c.496T>C	c.(496-498)Tgt>Cgt	p.C166R	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	166					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.C166R(1)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GTTTTTCCACATTCTTTGCAC	0.483													A|||	1	0.000199681	0.0	0.0	5008	,	,		22268	0.0		0.001	False		,,,				2504	0.0				GBM(23;986 1114 21716)	uc010hqo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(496-498)TGT>CGT		zinc finger protein 80							108.0	111.0	110.0					3																	113955426		2203	4300	6503	SO:0001583	missense	7634					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:113955426A>G	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.496T>C	3.37:g.113955426A>G	ENSP00000417192:p.Cys166Arg					ZNF80_uc003ebf.2_RNA	p.C166R	NM_007136	NP_009067	P51504	ZNF80_HUMAN			1	1000	-		Lung NSC(201;0.0233)|all_neural(597;0.0837)	166			C2H2-type 5.		Q6NSW4|Q6NT14	Missense_Mutation	SNP	ENST00000482457.2	37	c.496T>C	CCDS2979.1	.	.	.	.	.	.	.	.	.	.	A	16.77	3.215401	0.58452	.	.	ENSG00000174255	ENST00000482457	D	0.85955	-2.05	3.09	1.93	0.25924	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.90707	0.7084	H	0.95437	3.67	0.44234	D	0.997077	D	0.56521	0.976	P	0.52424	0.698	D	0.89363	0.3669	9	0.87932	D	0	.	6.514	0.22239	0.8749:0.0:0.1251:0.0	.	166	P51504	ZNF80_HUMAN	R	166	ENSP00000417192:C166R	ENSP00000309812:C166R	C	-	1	0	ZNF80	115438116	0.918000	0.31147	0.024000	0.17045	0.294000	0.27393	3.513000	0.53414	0.578000	0.29487	0.459000	0.35465	TGT		PASS	0.483	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		14	63	14	63	---	---	---	---
TOPBP1	11073	broad.mit.edu	37	3	133337159	133337159	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr3:133337159G>C	ENST00000260810.5	-	21	3621	c.3490C>G	c.(3490-3492)Cct>Gct	p.P1164A		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1164					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)	p.P1077A(1)|p.P1164A(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						GGACAACTAGGCCACTGCAAA	0.443								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	uc003eps.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						c.(3490-3492)CCT>GCT	Other_conserved_DNA_damage_response_genes	topoisomerase (DNA) II binding protein 1							140.0	134.0	136.0					3																	133337159		1944	4153	6097	SO:0001583	missense	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133337159G>C	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.3490C>G	3.37:g.133337159G>C	ENSP00000260810:p.Pro1164Ala					TOPBP1_uc003ept.1_Missense_Mutation_p.P168A	p.P1164A	NM_007027	NP_008958	Q92547	TOPB1_HUMAN			21	3622	-			1164					B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	c.3490C>G	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780672	0.90195	.	.	ENSG00000163781	ENST00000260810	T	0.13196	2.61	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.38188	0.1031	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.986;0.999	P;D	0.68765	0.808;0.96	T	0.00520	-1.1692	10	0.25751	T	0.34	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1077;1164	A0AV47;Q92547	.;TOPB1_HUMAN	A	1164	ENSP00000260810:P1164A	ENSP00000260810:P1164A	P	-	1	0	TOPBP1	134819849	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	9.422000	0.97458	2.941000	0.99782	0.655000	0.94253	CCT		PASS	0.443	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		29	76	29	76	---	---	---	---
AADACL2	344752	broad.mit.edu	37	3	151451952	151451952	+	Silent	SNP	T	T	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr3:151451952T>C	ENST00000356517.3	+	1	238	c.129T>C	c.(127-129)tgT>tgC	p.C43C		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	43						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.C21C(1)|p.C43C(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTAAAACTTGTACATTTACGG	0.333																																						uc003ezc.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(127-129)TGT>TGC		arylacetamide deacetylase-like 2 precursor							121.0	113.0	115.0					3																	151451952		2203	4300	6503	SO:0001819	synonymous_variant	344752					extracellular region|integral to membrane	carboxylesterase activity	g.chr3:151451952T>C	BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.129T>C	3.37:g.151451952T>C						AADACL2_uc010hvn.2_5'UTR	p.C43C	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		1	249	+			43					Q5HYJ4	Silent	SNP	ENST00000356517.3	37	c.129T>C	CCDS3161.2																																																																																				PASS	0.333	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365		7	29	7	29	---	---	---	---
SMC4	10051	broad.mit.edu	37	3	160122461	160122461	+	Intron	SNP	T	T	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr3:160122461T>C	ENST00000357388.3	+	5	1138				SMC4_ENST00000462787.1_Intron|SMC4_ENST00000360111.2_Intron|MIR16-2_ENST00000362117.1_RNA|SMC4_ENST00000469762.1_Intron|SMC4_ENST00000344722.5_Intron|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000470240.1_Intron|MIR15B_ENST00000385045.1_RNA	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4						kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TCTAGAAATTTAAGGAAATTC	0.353																																						hsa-mir-15b|MI0000438																			0					0															100.0	94.0	96.0					3																	160122461		1568	3582	5150	SO:0001627	intron_variant	406949							g.chr3:160122461T>C	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.687+169T>C	3.37:g.160122461T>C						IFT80_uc003fda.2_Intron|SMC4_uc003fdf.1_Intron|SMC4_uc003fdg.1_Intron|SMC4_uc010hwc.1_Intron|SMC4_uc003fdh.2_Intron|SMC4_uc003fdi.2_Intron|SMC4_uc003fdj.2_Intron|SMC4_uc010hwd.2_Intron|uc011boz.1_RNA|uc003fdk.2_5'Flank|MIR16-2_hsa-mir-16-2|MI0000115_5'Flank										+								A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	RNA	SNP	ENST00000357388.3	37	c.86T>C	CCDS3189.1																																																																																				PASS	0.353	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			5	29	5	29	---	---	---	---
PEX5L	51555	broad.mit.edu	37	3	179529630	179529630	+	Silent	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr3:179529630C>T	ENST00000467460.1	-	11	1443	c.1113G>A	c.(1111-1113)gcG>gcA	p.A371A	PEX5L_ENST00000472994.1_Silent_p.A312A|PEX5L_ENST00000464614.1_Silent_p.A263A|PEX5L_ENST00000465751.1_Silent_p.A347A|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Silent_p.A179A|PEX5L_ENST00000392649.3_Silent_p.A263A|PEX5L_ENST00000476138.1_Silent_p.A328A|PEX5L_ENST00000485199.1_Silent_p.A336A|PEX5L_ENST00000263962.8_Silent_p.A369A	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	371					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)	p.A371A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TTTCATTCTCCGCCTGGGTTA	0.448																																						uc003fki.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(1111-1113)GCG>GCA		peroxisomal biogenesis factor 5-like							178.0	167.0	171.0					3																	179529630		2203	4300	6503	SO:0001819	synonymous_variant	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179529630C>T	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1113G>A	3.37:g.179529630C>T						PEX5L_uc011bqd.1_Silent_p.A328A|PEX5L_uc011bqe.1_Silent_p.A179A|PEX5L_uc011bqf.1_Silent_p.A263A|PEX5L_uc003fkj.1_Silent_p.A336A|PEX5L_uc010hxd.1_Silent_p.A369A|PEX5L_uc011bqg.1_Silent_p.A347A|PEX5L_uc011bqh.1_Silent_p.A312A	p.A371A	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		11	1243	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		371			TPR 1.		B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Silent	SNP	ENST00000467460.1	37	c.1113G>A	CCDS3236.1																																																																																				PASS	0.448	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		60	74	60	74	---	---	---	---
EVC2	132884	broad.mit.edu	37	4	5642280	5642280	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr4:5642280C>A	ENST00000344408.5	-	10	1484	c.1431G>T	c.(1429-1431)atG>atT	p.M477I	EVC2_ENST00000310917.2_Missense_Mutation_p.M397I|EVC2_ENST00000344938.1_Missense_Mutation_p.M477I	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	477					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.M477I(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CTGCTTCCTCCATTGCCATCA	0.468																																						uc003gij.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(2)	5						c.(1429-1431)ATG>ATT		limbin							411.0	348.0	369.0					4																	5642280		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5642280C>A	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.1431G>T	4.37:g.5642280C>A	ENSP00000342144:p.Met477Ile					EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_Missense_Mutation_p.M397I	p.M477I	NM_147127	NP_667338	Q86UK5	LBN_HUMAN			10	1485	-			477			Potential.		Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.1431G>T	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565081	0.27915	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.77229	-1.08;-1.08;-1.08	3.97	3.97	0.46021	.	0.245990	0.33792	N	0.004548	T	0.73087	0.3542	M	0.65975	2.015	0.28896	N	0.893584	P	0.35656	0.514	B	0.36030	0.216	T	0.68492	-0.5394	10	0.33141	T	0.24	-20.8767	9.8353	0.40966	0.3355:0.6645:0.0:0.0	.	477	Q86UK5	LBN_HUMAN	I	477;397;477	ENSP00000339954:M477I;ENSP00000311683:M397I;ENSP00000342144:M477I	ENSP00000311683:M397I	M	-	3	0	EVC2	5693181	0.896000	0.30565	0.984000	0.44739	0.961000	0.63080	1.417000	0.34770	1.913000	0.55393	0.491000	0.48974	ATG		PASS	0.468	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		6	162	6	162	---	---	---	---
ACOX3	8310	broad.mit.edu	37	4	8383231	8383231	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr4:8383231C>G	ENST00000356406.5	-	14	1718	c.1641G>C	c.(1639-1641)agG>agC	p.R547S	ACOX3_ENST00000413009.2_Missense_Mutation_p.R547S|ACOX3_ENST00000503233.1_Missense_Mutation_p.R547S	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	547					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)	p.R547S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GGCATTTGTTCCTTGCTTCAA	0.428																																						uc010idk.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1639-1641)AGG>AGC		acyl-Coenzyme A oxidase 3 isoform a							125.0	138.0	134.0					4																	8383231		2203	4300	6503	SO:0001583	missense	8310				bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	g.chr4:8383231C>G	Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.1641G>C	4.37:g.8383231C>G	ENSP00000348775:p.Arg547Ser					ACOX3_uc003glc.3_Missense_Mutation_p.R547S|ACOX3_uc003gld.3_Missense_Mutation_p.R547S|ACOX3_uc003gle.1_Missense_Mutation_p.R452S	p.R547S	NM_003501	NP_003492	O15254	ACOX3_HUMAN			14	1786	-			547					Q96AJ8	Missense_Mutation	SNP	ENST00000356406.5	37	c.1641G>C	CCDS3401.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.537101	0.45176	.	.	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233	T;T;T	0.44482	0.92;0.92;0.92	5.06	-3.24	0.05094	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.185808	0.46758	D	0.000267	T	0.60702	0.2289	M	0.91818	3.245	0.37699	D	0.924152	D;D;D	0.60575	0.988;0.986;0.988	P;P;P	0.62649	0.905;0.844;0.905	T	0.67833	-0.5568	10	0.21014	T	0.42	-7.5044	12.1032	0.53796	0.0:0.4644:0.0:0.5356	.	547;547;547	B2R856;O15254-2;O15254	.;.;ACOX3_HUMAN	S	547	ENSP00000413994:R547S;ENSP00000348775:R547S;ENSP00000421625:R547S	ENSP00000348775:R547S	R	-	3	2	ACOX3	8434131	0.966000	0.33281	0.021000	0.16686	0.765000	0.43378	-0.067000	0.11579	-0.543000	0.06240	0.655000	0.94253	AGG		PASS	0.428	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4			24	56	24	56	---	---	---	---
CLRN2	645104	broad.mit.edu	37	4	17528651	17528651	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr4:17528651G>C	ENST00000511148.2	+	3	747	c.645G>C	c.(643-645)gaG>gaC	p.E215D	snoU13_ENST00000459186.1_RNA	NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	215						integral component of membrane (GO:0016021)		p.E232D(1)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						CCCTCCCTGAGATTAAGACCA	0.502																																						uc003gpg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(643-645)GAG>GAC		clarin 2							119.0	124.0	122.0					4																	17528651		2136	4253	6389	SO:0001583	missense	645104					integral to membrane		g.chr4:17528651G>C		CCDS47032.1	4p15.32	2008-01-17			ENSG00000249581	ENSG00000249581			33939	protein-coding gene	gene with protein product						12080385	Standard	NM_001079827		Approved		uc003gpg.1	A0PK11	OTTHUMG00000160273	ENST00000511148.2:c.645G>C	4.37:g.17528651G>C	ENSP00000424711:p.Glu215Asp						p.E215D	NM_001079827	NP_001073296	A0PK11	CLRN2_HUMAN			3	747	+			215						Missense_Mutation	SNP	ENST00000511148.2	37	c.645G>C	CCDS47032.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.853750	0.32791	.	.	ENSG00000249581	ENST00000511148	T	0.76316	-1.01	5.61	3.85	0.44370	.	0.105837	0.64402	D	0.000005	T	0.58892	0.2154	N	0.19112	0.55	0.36684	D	0.879219	B	0.17667	0.023	B	0.14023	0.01	T	0.56643	-0.7945	10	0.31617	T	0.26	-24.5876	5.4105	0.16346	0.3944:0.0:0.6056:0.0	.	215	A0PK11	CLRN2_HUMAN	D	215	ENSP00000424711:E215D	ENSP00000424711:E215D	E	+	3	2	CLRN2	17137749	1.000000	0.71417	0.921000	0.36526	0.954000	0.61252	5.394000	0.66285	1.353000	0.45828	0.655000	0.94253	GAG		PASS	0.502	CLRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359990.2	NM_001079827		30	63	30	63	---	---	---	---
MED28	80306	broad.mit.edu	37	4	17616413	17616413	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr4:17616413G>C	ENST00000237380.7	+	1	160	c.136G>C	c.(136-138)Gac>Cac	p.D46H	AC006160.5_ENST00000511010.1_RNA	NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN	mediator complex subunit 28	46					negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cortical actin cytoskeleton (GO:0030864)|mediator complex (GO:0016592)|membrane (GO:0016020)		p.D46H(1)		lung(6)|skin(2)	8						TACTTTGGTGGACGAGTTGGA	0.582																																						uc003gpi.1																			1	Substitution - Missense(1)		lung(1)		0						c.(136-138)GAC>CAC		mediator complex subunit 28							99.0	106.0	103.0					4																	17616413		2203	4300	6503	SO:0001583	missense	80306				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|nucleus	actin binding	g.chr4:17616413G>C	AF317678	CCDS33963.1	4p16	2007-07-30	2007-07-30		ENSG00000118579	ENSG00000118579			24628	protein-coding gene	gene with protein product		610311	"""mediator of RNA polymerase II transcription, subunit 28 homolog (S. cerevisiae)"""			11779215, 15467741	Standard	NM_025205		Approved	EG1, DKFZP434N185, magicin	uc003gpi.1	Q9H204	OTTHUMG00000161980	ENST00000237380.7:c.136G>C	4.37:g.17616413G>C	ENSP00000237380:p.Asp46His					MED28_uc003gpj.2_RNA	p.D46H	NM_025205	NP_079481	Q9H204	MED28_HUMAN			1	148	+			46					Q9BZJ5	Missense_Mutation	SNP	ENST00000237380.7	37	c.136G>C	CCDS33963.1	.	.	.	.	.	.	.	.	.	.	G	35	5.426460	0.96131	.	.	ENSG00000118579	ENST00000237380;ENST00000503945	.	.	.	5.46	5.46	0.80206	.	0.091359	0.64402	D	0.000001	T	0.72692	0.3492	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.74642	-0.3597	9	0.87932	D	0	-1.0148	19.5125	0.95148	0.0:0.0:1.0:0.0	.	46	Q9H204	MED28_HUMAN	H	46;43	.	ENSP00000237380:D46H	D	+	1	0	MED28	17225511	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.333000	0.96459	2.840000	0.97914	0.655000	0.94253	GAC		PASS	0.582	MED28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360055.3	NM_025205		27	60	27	60	---	---	---	---
STIM2	57620	broad.mit.edu	37	4	26921165	26921165	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr4:26921165A>G	ENST00000467011.1	+	2	616	c.191A>G	c.(190-192)gAa>gGa	p.E64G	STIM2_ENST00000465503.1_Missense_Mutation_p.E64G|STIM2_ENST00000467087.1_Missense_Mutation_p.E64G|STIM2_ENST00000237364.5_Missense_Mutation_p.E151G|STIM2_ENST00000382009.3_Missense_Mutation_p.E151G|STIM2_ENST00000412829.2_Missense_Mutation_p.E151G	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	64					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)	p.E151G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				TTTACAGAAGAAGACAGATTT	0.393																																						uc003gsh.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(451-453)GAA>GGA		stromal interaction molecule 2							159.0	157.0	158.0					4																	26921165		2203	4300	6503	SO:0001583	missense	57620				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	g.chr4:26921165A>G	AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"""Sterile alpha motif (SAM) domain containing"""	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.191A>G	4.37:g.26921165A>G	ENSP00000419383:p.Glu64Gly					STIM2_uc003gsg.3_Missense_Mutation_p.E151G|STIM2_uc010iex.2_Missense_Mutation_p.E151G	p.E151G	NM_020860	NP_065911	Q9P246	STIM2_HUMAN			2	668	+		Breast(46;0.0503)	64			Extracellular (Potential).		A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Missense_Mutation	SNP	ENST00000467011.1	37	c.452A>G	CCDS54752.1	.	.	.	.	.	.	.	.	.	.	A	14.66	2.601930	0.46423	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000467011;ENST00000412829;ENST00000465503	T;T;T;T;T;T	0.78707	-1.15;-1.19;-1.19;-1.15;-1.2;-1.15	5.5	5.5	0.81552	.	0.207414	0.39475	N	0.001357	T	0.72606	0.3481	L	0.29908	0.895	0.41665	D	0.989201	P;P;P	0.41188	0.624;0.624;0.741	B;B;B	0.44278	0.259;0.259;0.445	T	0.76011	-0.3115	10	0.56958	D	0.05	.	14.1862	0.65607	1.0:0.0:0.0:0.0	.	151;151;151	A6H8L7;E9PGD0;F5GXJ4	.;.;.	G	64;151;151;64;151;64	ENSP00000419073:E64G;ENSP00000371439:E151G;ENSP00000237364:E151G;ENSP00000419383:E64G;ENSP00000404812:E151G;ENSP00000417569:E64G	ENSP00000237364:E151G	E	+	2	0	STIM2	26530263	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.625000	0.61262	2.096000	0.63516	0.477000	0.44152	GAA		PASS	0.393	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	NM_020860		24	53	24	53	---	---	---	---
ATP8A1	10396	broad.mit.edu	37	4	42618096	42618096	+	Splice_Site	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr4:42618096C>T	ENST00000381668.5	-	5	595		c.e5-1		ATP8A1_ENST00000264449.10_Splice_Site	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1						cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.?(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TATGTCGTTTCTAAAGTTTAA	0.303																																						uc003gwr.2																			2	Unknown(2)		lung(2)	skin(2)|central_nervous_system(1)	3						c.e5-1		ATPase, aminophospholipid transporter (APLT),	Phosphatidylserine(DB00144)						165.0	157.0	160.0					4																	42618096		2200	4300	6500	SO:0001630	splice_region_variant	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42618096C>T	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.364-1G>A	4.37:g.42618096C>T						ATP8A1_uc003gws.2_Splice_Site_p.K122_splice|ATP8A1_uc011byz.1_Splice_Site_p.K122_splice	p.K122_splice	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN			5	596	-								Q32M35|Q32M36|Q4W5J7|Q4W5P2	Splice_Site	SNP	ENST00000381668.5	37	c.364_splice	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503093	0.44558	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4192	0.99033	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP8A1	42312853	1.000000	0.71417	1.000000	0.80357	0.441000	0.31987	7.110000	0.77069	2.831000	0.97527	0.650000	0.86243	.		PASS	0.303	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095	Intron	6	27	6	27	---	---	---	---
KDR	3791	broad.mit.edu	37	4	55981484	55981485	+	Missense_Mutation	DNP	GA	GA	TC			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr4:55981484_55981485GA>TC	ENST00000263923.4	-	4	747_748	c.452_453TC>GA	c.(451-453)cTC>cGA	p.L151R		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	151	Ig-like C2-type 2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.L151R(2)|p.L151L(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AAATGGACCCGAGACATGGAAT	0.371			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.2				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(451-453)CTC>CTA|c.(451-453)CTC>CGC		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)																																			SO:0001583	missense	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55981484G>T|g.chr4:55981485A>C	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.452_453delinsTC	4.37:g.55981484_55981485delinsTC	ENSP00000263923:p.Leu151Arg	TSP Lung(20;0.16)				KDR_uc003hat.1_Silent_p.L151L|KDR_uc011bzx.1_Silent_p.L151L|KDR_uc003hat.1_Missense_Mutation_p.L151R|KDR_uc011bzx.1_Missense_Mutation_p.L151R	p.L151L|p.L151R	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		4	755|754	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		151			Ig-like C2-type 2.|Extracellular (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Silent|Missense_Mutation	SNP	ENST00000263923.4	37	c.453C>A|c.452T>G	CCDS3497.1																																																																																				PASS	0.371	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			11	20	11	20	---	---	---	---
ADAMTS3	9508	broad.mit.edu	37	4	73154571	73154571	+	Silent	SNP	G	G	A	rs112565530		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr4:73154571G>A	ENST00000286657.4	-	21	2982	c.2946C>T	c.(2944-2946)tgC>tgT	p.C982C		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	982	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C982C(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTCCTTCACCGCAGGTCACTG	0.532																																					NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(2944-2946)TGC>TGT		ADAM metallopeptidase with thrombospondin type 1							74.0	62.0	66.0					4																	73154571		2203	4300	6503	SO:0001819	synonymous_variant	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73154571G>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2946C>T	4.37:g.73154571G>A							p.C982C	NM_014243	NP_055058	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		21	2983	-			982			TSP type-1 4.		A1L3U9|Q9BXZ8	Silent	SNP	ENST00000286657.4	37	c.2946C>T	CCDS3553.1																																																																																				PASS	0.532	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			13	17	13	17	---	---	---	---
LARP7	51574	broad.mit.edu	37	4	113568634	113568634	+	Missense_Mutation	SNP	G	G	T	rs371035787		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr4:113568634G>T	ENST00000344442.5	+	7	1204	c.926G>T	c.(925-927)cGa>cTa	p.R309L	MIR302B_ENST00000509938.1_RNA|LARP7_ENST00000324052.6_Missense_Mutation_p.R309L|MIR302C_ENST00000362232.1_RNA|MIR302A_ENST00000385192.1_RNA|MIR302D_ENST00000362275.1_RNA|MIR302B_ENST00000362188.1_RNA|MIR367_ENST00000362299.1_RNA|LARP7_ENST00000509061.1_Missense_Mutation_p.R316L|MIR302B_ENST00000505215.1_RNA|MIR302B_ENST00000510655.1_RNA	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	309	Lys-rich.				RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R309L(1)		endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		CTAGCTCCCCGATCAAAAGTA	0.383																																						uc003iay.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(925-927)CGA>CTA		La ribonucleoprotein domain family, member 7							82.0	83.0	83.0					4																	113568634		1829	4081	5910	SO:0001583	missense	51574				RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr4:113568634G>T	AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	24912	protein-coding gene	gene with protein product	"""P-TEFb-interaction protein for 7SK stability"""	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.926G>T	4.37:g.113568634G>T	ENSP00000344950:p.Arg309Leu					LARP7_uc003iaz.2_Missense_Mutation_p.R316L|LARP7_uc003iba.2_Missense_Mutation_p.R230L|LARP7_uc003ibb.2_Missense_Mutation_p.R309L	p.R309L	NM_016648	NP_057732	Q4G0J3	LARP7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	7	1204	+		Ovarian(17;0.0443)|Hepatocellular(203;0.217)	309			Lys-rich.		B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Missense_Mutation	SNP	ENST00000344442.5	37	c.926G>T	CCDS3701.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.64|12.64	1.998494|1.998494	0.35226|0.35226	.|.	.|.	ENSG00000174720|ENSG00000174720	ENST00000511529|ENST00000344442;ENST00000509061;ENST00000324052	.|T;T;T	.|0.42900	.|0.96;0.96;0.96	5.86|5.86	-5.09|-5.09	0.02920|0.02920	.|.	.|1.034180	.|0.07620	.|N	.|0.926903	T|T	0.34308|0.34308	0.0893|0.0893	L|L	0.56769|0.56769	1.78|1.78	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.33828|0.33828	-0.9853|-0.9853	5|10	.|0.39692	.|T	.|0.17	-14.3821|-14.3821	8.1305|8.1305	0.31024|0.31024	0.5602:0.2092:0.2307:0.0|0.5602:0.2092:0.2307:0.0	.|.	.|309	.|Q4G0J3	.|LARP7_HUMAN	Y|L	90|309;316;309	.|ENSP00000344950:R309L;ENSP00000422626:R316L;ENSP00000314311:R309L	.|ENSP00000314311:R309L	D|R	+|+	1|2	0|0	LARP7|LARP7	113788083|113788083	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.038000|0.038000	0.13279|0.13279	-0.352000|-0.352000	0.07701|0.07701	-1.110000|-1.110000	0.02992|0.02992	0.563000|0.563000	0.77884|0.77884	GAT|CGA		PASS	0.383	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256417.2	NM_016648		36	112	36	112	---	---	---	---
ASIC5	51802	broad.mit.edu	37	4	156757901	156757901	+	Missense_Mutation	SNP	G	G	T	rs139903903		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr4:156757901G>T	ENST00000537611.2	-	8	1221	c.1175C>A	c.(1174-1176)cCa>cAa	p.P392Q		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	392					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)	p.P392Q(1)									TTTTTGACTTGGAAAAGAGGA	0.338																																						uc003ipe.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1174-1176)CCA>CAA		amiloride-sensitive cation channel 5,							69.0	76.0	74.0					4																	156757901		2203	4299	6502	SO:0001583	missense	51802					integral to membrane|plasma membrane		g.chr4:156757901G>T	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"""amiloride-sensitive cation channel 5, intestinal"""	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.1175C>A	4.37:g.156757901G>T	ENSP00000442477:p.Pro392Gln						p.P392Q	NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141)	8	1222	-	all_hematologic(180;0.24)	Renal(120;0.0458)	392			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000537611.2	37	c.1175C>A	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041788	0.55003	.	.	ENSG00000256394	ENST00000537611	T	0.68181	-0.31	4.8	3.95	0.45737	.	0.296604	0.27509	N	0.019046	T	0.73938	0.3651	M	0.88906	2.99	0.31057	N	0.71459	P	0.41102	0.738	P	0.44921	0.464	T	0.78914	-0.2016	10	0.62326	D	0.03	-5.2457	10.3693	0.44044	0.0787:0.1449:0.7764:0.0	.	392	Q9NY37	ACCN5_HUMAN	Q	392	ENSP00000442477:P392Q	ENSP00000264432:P392Q	P	-	2	0	ACCN5	156977351	1.000000	0.71417	0.958000	0.39756	0.743000	0.42351	3.362000	0.52314	1.335000	0.45486	0.655000	0.94253	CCA		PASS	0.338	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			4	43	4	43	---	---	---	---
ETFDH	2110	broad.mit.edu	37	4	159620142	159620142	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr4:159620142G>A	ENST00000511912.1	+	9	1308	c.976G>A	c.(976-978)Ggt>Agt	p.G326S	U3_ENST00000607547.1_RNA|ETFDH_ENST00000307738.5_Missense_Mutation_p.G279S	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	326					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)	p.G326S(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TTTTAAGGTTGGTCTAGACTA	0.328																																						uc003iqb.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|skin(1)	3						c.(976-978)GGT>AGT		electron-transferring-flavoprotein dehydrogenase							58.0	59.0	59.0					4																	159620142		2203	4300	6503	SO:0001583	missense	2110				fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding	g.chr4:159620142G>A	S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.976G>A	4.37:g.159620142G>A	ENSP00000426638:p.Gly326Ser					ETFDH_uc011cjg.1_Missense_Mutation_p.G279S|ETFDH_uc010iqr.2_Intron|ETFDH_uc011cjh.1_Missense_Mutation_p.G265S|ETFDH_uc010iqs.2_Missense_Mutation_p.G248S	p.G326S	NM_004453	NP_004444	Q16134	ETFD_HUMAN		COAD - Colon adenocarcinoma(41;0.0172)	9	1308	+	all_hematologic(180;0.24)	Renal(120;0.0458)	326					B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	ENST00000511912.1	37	c.976G>A	CCDS3800.1	.	.	.	.	.	.	.	.	.	.	G	36	5.636341	0.96693	.	.	ENSG00000171503	ENST00000511912;ENST00000507475;ENST00000307738	D;D;D	0.95853	-3.36;-3.83;-3.36	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.95950	0.8681	M	0.73319	2.225	0.80722	D	1	B;B;P	0.39696	0.425;0.425;0.683	B;B;B	0.43331	0.416;0.302;0.416	D	0.95620	0.8680	10	0.66056	D	0.02	-5.7297	20.452	0.99131	0.0:0.0:1.0:0.0	.	279;265;326	B4E3R9;B4DEQ0;Q16134	.;.;ETFD_HUMAN	S	326;161;279	ENSP00000426638:G326S;ENSP00000422735:G161S;ENSP00000303552:G279S	ENSP00000303552:G279S	G	+	1	0	ETFDH	159839592	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.687000	0.98667	2.838000	0.97847	0.591000	0.81541	GGT		PASS	0.328	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2			13	31	13	31	---	---	---	---
ADAM29	11086	broad.mit.edu	37	4	175897673	175897673	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr4:175897673C>A	ENST00000359240.3	+	5	1667	c.997C>A	c.(997-999)Cat>Aat	p.H333N	ADAM29_ENST00000445694.1_Missense_Mutation_p.H333N|ADAM29_ENST00000514159.1_Missense_Mutation_p.H333N|ADAM29_ENST00000404450.4_Missense_Mutation_p.H333N|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	333	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.H333N(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AGTGGCTCATCATCTAGGTCA	0.398																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(997-999)CAT>AAT		ADAM metallopeptidase domain 29 preproprotein							156.0	152.0	153.0					4																	175897673		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897673C>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.997C>A	4.37:g.175897673C>A	ENSP00000352177:p.His333Asn					ADAM29_uc003iud.2_Missense_Mutation_p.H333N|ADAM29_uc010irr.2_Missense_Mutation_p.H333N|ADAM29_uc011cki.1_Missense_Mutation_p.H333N	p.H333N	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1667	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	333			Peptidase M12B.|Extracellular (Potential).		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.997C>A	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.403309	0.42613	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.09255	3.0;3.0;3.0;3.0	3.6	0.671	0.17929	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.562256	0.13169	U	0.408411	T	0.21962	0.0529	M	0.68317	2.08	0.22081	N	0.999376	P	0.45986	0.87	P	0.51833	0.681	T	0.11616	-1.0580	9	.	.	.	.	14.0867	0.64962	0.0:0.2977:0.7023:0.0	.	333	Q9UKF5	ADA29_HUMAN	N	333	ENSP00000352177:H333N;ENSP00000414544:H333N;ENSP00000384229:H333N;ENSP00000423517:H333N	.	H	+	1	0	ADAM29	176134248	1.000000	0.71417	0.253000	0.24343	0.026000	0.11368	1.744000	0.38268	0.091000	0.17302	0.579000	0.79373	CAT		PASS	0.398	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				30	70	30	70	---	---	---	---
ADAM29	11086	broad.mit.edu	37	4	175898265	175898265	+	Missense_Mutation	SNP	G	G	C	rs148692882		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr4:175898265G>C	ENST00000359240.3	+	5	2259	c.1589G>C	c.(1588-1590)cGt>cCt	p.R530P	ADAM29_ENST00000445694.1_Missense_Mutation_p.R530P|ADAM29_ENST00000514159.1_Missense_Mutation_p.R530P|ADAM29_ENST00000404450.4_Missense_Mutation_p.R530P|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	530	Cys-rich.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R530H(1)|p.R530P(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TTAGGTGACCGTGTTGGTCAC	0.418																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2																			2	Substitution - Missense(2)		lung(1)|prostate(1)	skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(1588-1590)CGT>CCT		ADAM metallopeptidase domain 29 preproprotein							87.0	91.0	90.0					4																	175898265		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175898265G>C	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1589G>C	4.37:g.175898265G>C	ENSP00000352177:p.Arg530Pro					ADAM29_uc003iud.2_Missense_Mutation_p.R530P|ADAM29_uc010irr.2_Missense_Mutation_p.R530P|ADAM29_uc011cki.1_Missense_Mutation_p.R530P	p.R530P	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	2259	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	530			Cys-rich.|Extracellular (Potential).		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.1589G>C	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.167981	0.57476	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	3.48	3.48	0.39840	ADAM, cysteine-rich (2);	0.000000	0.36200	U	0.002735	T	0.51958	0.1705	M	0.82433	2.59	0.27380	N	0.955435	D	0.89917	1.0	D	0.91635	0.999	T	0.46148	-0.9212	9	.	.	.	.	13.2614	0.60106	0.0:0.0:1.0:0.0	.	530	Q9UKF5	ADA29_HUMAN	P	530	ENSP00000352177:R530P;ENSP00000414544:R530P;ENSP00000384229:R530P;ENSP00000423517:R530P	.	R	+	2	0	ADAM29	176134840	0.986000	0.35501	0.551000	0.28230	0.006000	0.05464	4.380000	0.59581	2.239000	0.73571	0.643000	0.83706	CGT		PASS	0.418	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				25	28	25	28	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187540391	187540391	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr4:187540391G>C	ENST00000441802.2	-	10	7558	c.7349C>G	c.(7348-7350)tCa>tGa	p.S2450*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2450	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S2450*(2)|p.S2453*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTGCAGGTTTGAGAGGGTGAT	0.433										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2																			4	Substitution - Nonsense(4)		lung(4)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(7348-7350)TCA>TGA		FAT tumor suppressor 1 precursor							160.0	166.0	164.0					4																	187540391		2055	4199	6254	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187540391G>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7349C>G	4.37:g.187540391G>C	ENSP00000406229:p.Ser2450*	HNSCC(5;0.00058)					p.S2450*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	7537	-			2450			Extracellular (Potential).|Cadherin 22.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.7349C>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	47	13.224743	0.99728	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	19.3787	0.94523	0.0:0.0:1.0:0.0	.	.	.	.	X	2450;2452	.	ENSP00000260147:S2452X	S	-	2	0	FAT1	187777385	1.000000	0.71417	0.983000	0.44433	0.038000	0.13279	9.601000	0.98297	2.890000	0.99128	0.650000	0.86243	TCA		PASS	0.433	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		34	112	34	112	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187540705	187540705	+	Silent	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr4:187540705G>A	ENST00000441802.2	-	10	7244	c.7035C>T	c.(7033-7035)ctC>ctT	p.L2345L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2345	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L2348L(1)|p.L2345L(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCAGGGTTCTGAGTAGTGAGA	0.493										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2																			2	Substitution - coding silent(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(7033-7035)CTC>CTT		FAT tumor suppressor 1 precursor							150.0	153.0	152.0					4																	187540705		2122	4239	6361	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187540705G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7035C>T	4.37:g.187540705G>A		HNSCC(5;0.00058)					p.L2345L	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	7223	-			2345			Extracellular (Potential).|Cadherin 21.			Silent	SNP	ENST00000441802.2	37	c.7035C>T	CCDS47177.1																																																																																				PASS	0.493	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		31	81	31	81	---	---	---	---
SLC12A7	10723	broad.mit.edu	37	5	1085507	1085507	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr5:1085507C>A	ENST00000264930.5	-	7	800	c.757G>T	c.(757-759)Gtg>Ttg	p.V253L		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	253					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)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.V253L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GTGCCGTACACACGCATGTTG	0.647																																						uc003jbu.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(757-759)GTG>TTG		solute carrier family 12 (potassium/chloride	Potassium Chloride(DB00761)						80.0	56.0	64.0					5																	1085507		2193	4299	6492	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1085507C>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.757G>T	5.37:g.1085507C>A	ENSP00000264930:p.Val253Leu						p.V253L	NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		7	823	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		253			Helical; (Potential).		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.757G>T	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	c	13.51	2.259506	0.39995	.	.	ENSG00000113504	ENST00000264930	D	0.98849	-5.18	3.58	2.65	0.31530	Amino acid permease domain (1);	0.065621	0.64402	N	0.000011	D	0.97133	0.9063	L	0.41079	1.255	0.53688	D	0.999976	B	0.24533	0.105	B	0.39379	0.298	D	0.94271	0.7511	10	0.39692	T	0.17	.	11.4068	0.49902	0.0:0.8145:0.1855:0.0	.	253	Q9Y666	S12A7_HUMAN	L	253	ENSP00000264930:V253L	ENSP00000264930:V253L	V	-	1	0	SLC12A7	1138507	0.951000	0.32395	0.609000	0.28983	0.804000	0.45430	2.143000	0.42187	0.573000	0.29400	0.550000	0.68814	GTG		PASS	0.647	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		3	5	3	5	---	---	---	---
TRIO	7204	broad.mit.edu	37	5	14297283	14297283	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr5:14297283G>C	ENST00000344204.4	+	7	1303	c.1279G>C	c.(1279-1281)Gag>Cag	p.E427Q	TRIO_ENST00000537187.1_Missense_Mutation_p.E427Q|TRIO_ENST00000509967.2_Missense_Mutation_p.E378Q	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	427					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E427Q(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GAGTCAGCTGGAGCAGGAGTG	0.562																																						uc003jff.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(1279-1281)GAG>CAG		triple functional domain (PTPRF interacting)							91.0	78.0	82.0					5																	14297283		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14297283G>C	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.1279G>C	5.37:g.14297283G>C	ENSP00000339299:p.Glu427Gln					TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.E378Q|TRIO_uc003jfh.1_Missense_Mutation_p.E76Q	p.E427Q	NM_007118	NP_009049	O75962	TRIO_HUMAN			7	1285	+	Lung NSC(4;0.000742)		427					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.1279G>C	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032894	0.75504	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.52057	0.68;0.68;0.68	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.62816	0.2459	L	0.58810	1.83	0.80722	D	1	D;D;P	0.60575	0.957;0.988;0.951	P;P;P	0.61201	0.622;0.885;0.708	T	0.58612	-0.7606	10	0.30078	T	0.28	.	18.7327	0.91741	0.0:0.0:1.0:0.0	.	378;427;427	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	Q	427;427;378;114	ENSP00000339299:E427Q;ENSP00000446348:E427Q;ENSP00000445592:E378Q	ENSP00000339299:E427Q	E	+	1	0	TRIO	14350283	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.425000	0.82216	0.462000	0.41574	GAG		PASS	0.562	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		11	22	11	22	---	---	---	---
TRIO	7204	broad.mit.edu	37	5	14378141	14378141	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr5:14378141C>A	ENST00000344204.4	+	20	3376	c.3352C>A	c.(3352-3354)Caa>Aaa	p.Q1118K	TRIO_ENST00000537187.1_Missense_Mutation_p.Q1118K|TRIO_ENST00000509967.2_Missense_Mutation_p.Q1069K	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1118					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q1118K(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TGAACTCTTCCAACGGGAGAA	0.423																																						uc003jff.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(3352-3354)CAA>AAA		triple functional domain (PTPRF interacting)							90.0	82.0	85.0					5																	14378141		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14378141C>A	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3352C>A	5.37:g.14378141C>A	ENSP00000339299:p.Gln1118Lys					TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.Q1069K|TRIO_uc003jfh.1_Missense_Mutation_p.Q767K	p.Q1118K	NM_007118	NP_009049	O75962	TRIO_HUMAN			20	3358	+	Lung NSC(4;0.000742)		1118			Spectrin 4.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.3352C>A	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.734181	0.69189	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.40756	1.02;1.02;1.02	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.50990	0.1648	L	0.28115	0.83	0.80722	D	1	D;D;D	0.55385	0.963;0.971;0.969	P;P;D	0.64877	0.792;0.77;0.93	T	0.29305	-1.0016	10	0.19147	T	0.46	.	20.0912	0.97820	0.0:1.0:0.0:0.0	.	1069;1118;1118	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	K	1118;1118;1069;805	ENSP00000339299:Q1118K;ENSP00000446348:Q1118K;ENSP00000445592:Q1069K	ENSP00000339299:Q1118K	Q	+	1	0	TRIO	14431141	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.746000	0.94184	0.591000	0.81541	CAA		PASS	0.423	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		4	27	4	27	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24488226	24488226	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr5:24488226C>A	ENST00000264463.4	-	12	2420	c.1913G>T	c.(1912-1914)cGa>cTa	p.R638L	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	638					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R638L(1)|p.R638Q(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTCTTTTTTTCGCTGTCTTTT	0.398										HNSCC(23;0.051)																												uc003jgr.1																			2	Substitution - Missense(2)	p.R638Q(1)	lung(1)|pancreas(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(1912-1914)CGA>CTA		cadherin 10, type 2 preproprotein							43.0	45.0	45.0					5																	24488226		2203	4294	6497	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24488226C>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1913G>T	5.37:g.24488226C>A	ENSP00000264463:p.Arg638Leu	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.R638L	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2245	-			638			Cytoplasmic (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1913G>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682578	0.68157	.	.	ENSG00000040731	ENST00000264463	T	0.79554	-1.28	5.25	4.37	0.52481	Cadherin, cytoplasmic domain (1);	0.161007	0.53938	D	0.000046	D	0.85120	0.5624	L	0.60067	1.865	0.40905	D	0.984187	D	0.59357	0.985	P	0.56865	0.808	D	0.87229	0.2259	10	0.87932	D	0	.	14.9116	0.70761	0.0:0.8562:0.1438:0.0	.	638	Q9Y6N8	CAD10_HUMAN	L	638	ENSP00000264463:R638L	ENSP00000264463:R638L	R	-	2	0	CDH10	24523983	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	3.573000	0.53856	1.199000	0.43173	0.655000	0.94253	CGA		PASS	0.398	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		23	39	23	39	---	---	---	---
DROSHA	29102	broad.mit.edu	37	5	31429647	31429647	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr5:31429647C>T	ENST00000511367.2	-	26	3395	c.3151G>A	c.(3151-3153)Gtt>Att	p.V1051I	DROSHA_ENST00000344624.3_Missense_Mutation_p.V1051I|DROSHA_ENST00000513349.1_Missense_Mutation_p.V1014I|DROSHA_ENST00000442743.1_Missense_Mutation_p.V1014I	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1051	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.V1051I(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TCCAAGTAAACAGCTCCTAGA	0.368																																						uc003jhg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3151-3153)GTT>ATT		ribonuclease III, nuclear isoform 1							50.0	49.0	50.0					5																	31429647		1853	4098	5951	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31429647C>T	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.3151G>A	5.37:g.31429647C>T	ENSP00000425979:p.Val1051Ile					RNASEN_uc003jhh.2_Missense_Mutation_p.V1014I|RNASEN_uc003jhi.2_Missense_Mutation_p.V1014I	p.V1051I	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN			26	3510	-			1051			Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.3151G>A	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730919	0.48939	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88	5.73	5.73	0.89815	Ribonuclease III (5);	0.133118	0.50627	D	0.000107	T	0.68568	0.3015	N	0.02213	-0.635	0.80722	D	1	B;B	0.32526	0.374;0.083	B;B	0.28991	0.097;0.055	T	0.68573	-0.5373	10	0.18276	T	0.48	-14.914	19.8932	0.96939	0.0:1.0:0.0:0.0	.	1014;1051	E7EMP9;Q9NRR4	.;RNC_HUMAN	I	1051;1051;1014;1014;976;1007	ENSP00000425979:V1051I;ENSP00000339845:V1051I;ENSP00000409335:V1014I;ENSP00000424161:V1014I	ENSP00000265075:V976I	V	-	1	0	DROSHA	31465404	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.574000	0.74014	2.698000	0.92095	0.655000	0.94253	GTT		PASS	0.368	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		18	44	18	44	---	---	---	---
RANBP3L	202151	broad.mit.edu	37	5	36257555	36257555	+	Splice_Site	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr5:36257555C>T	ENST00000296604.3	-	9	1258		c.e9+1		RANBP3L_ENST00000502994.1_Splice_Site|RANBP3L_ENST00000515759.1_Splice_Site	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like						intracellular transport (GO:0046907)			p.?(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			AGAATTCTTACTTGAACTTAA	0.269																																						uc003jkh.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e9+1		RAN binding protein 3-like isoform 2							77.0	77.0	77.0					5																	36257555		2202	4298	6500	SO:0001630	splice_region_variant	202151				intracellular transport			g.chr5:36257555C>T	BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.772+1G>A	5.37:g.36257555C>T						RANBP3L_uc011cow.1_Splice_Site_p.R283_splice	p.R258_splice	NM_145000	NP_659437	Q86VV4	RNB3L_HUMAN	Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)		9	1265	-	all_lung(31;4.52e-05)							B7Z866|E9PGP9|Q96LK2	Splice_Site	SNP	ENST00000296604.3	37	c.772_splice	CCDS3918.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568123	0.65651	.	.	ENSG00000164188	ENST00000296604;ENST00000502994;ENST00000515759	.	.	.	5.63	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6613	0.56815	0.0:0.9174:0.0:0.0826	.	.	.	.	.	-1	.	.	.	-	.	.	RANBP3L	36293312	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.495000	0.45337	2.814000	0.96858	0.591000	0.81541	.		PASS	0.269	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253773.2	NM_145000	Intron	6	23	6	23	---	---	---	---
C6	729	broad.mit.edu	37	5	41181632	41181633	+	Missense_Mutation	DNP	TG	TG	AC	rs189209342	byFrequency	TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr5:41181632_41181633TG>AC	ENST00000263413.3	-	7	1019_1020	c.755_756CA>GT	c.(754-756)aCA>aGT	p.T252S	C6_ENST00000337836.5_Missense_Mutation_p.T252S|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	252	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.T252R(1)|p.T252S(1)|p.T252T(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGTAGAAATCTGTTTTCAAGTC	0.347																																						uc003jmk.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(754-756)ACA>ACT|c.(754-756)ACA>AGA		complement component 6 precursor																																				SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41181632T>A|g.chr5:41181633G>C	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.755_756delinsAC	5.37:g.41181632_41181633delinsAC	ENSP00000263413:p.Thr252Ser					C6_uc003jml.1_Silent_p.T252T|C6_uc003jml.1_Missense_Mutation_p.T252R	p.T252T|p.T252R	NM_000065	NP_000056	P13671	CO6_HUMAN			7	966|965	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	252			MACPF.			Silent|Missense_Mutation	SNP	ENST00000263413.3	37	c.756A>T|c.755C>G	CCDS3936.1																																																																																				PASS	0.347	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			15	37|38	15	37	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45262388	45262388	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr5:45262388T>C	ENST00000303230.4	-	8	2365	c.2308A>G	c.(2308-2310)Agc>Ggc	p.S770G		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	770					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.S770G(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						GCCTGCGTGCTCTTGTGCACT	0.637																																						uc003jok.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2308-2310)AGC>GGC		hyperpolarization activated cyclic							77.0	75.0	76.0					5																	45262388		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262388T>C	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.2308A>G	5.37:g.45262388T>C	ENSP00000307342:p.Ser770Gly						p.S770G	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2333	-			770			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.2308A>G	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	T	11.55	1.671829	0.29693	.	.	ENSG00000164588	ENST00000303230	D	0.84660	-1.88	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.78483	0.4290	L	0.34521	1.04	0.39360	D	0.965906	B	0.06786	0.001	B	0.08055	0.003	T	0.73814	-0.3864	10	0.25751	T	0.34	.	15.2949	0.73898	0.0:0.0:0.0:1.0	.	770	O60741	HCN1_HUMAN	G	770	ENSP00000307342:S770G	ENSP00000307342:S770G	S	-	1	0	HCN1	45298145	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.119000	0.57891	2.016000	0.59253	0.533000	0.62120	AGC		PASS	0.637	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		9	33	9	33	---	---	---	---
ALDH7A1	501	broad.mit.edu	37	5	125896775	125896775	+	Splice_Site	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr5:125896775C>A	ENST00000409134.3	-	10	1132	c.913G>T	c.(913-915)Gcc>Tcc	p.A305S	ALDH7A1_ENST00000553117.1_Splice_Site_p.A305S|ALDH7A1_ENST00000447989.2_Splice_Site_p.A332S	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	305					cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|glycine betaine biosynthetic process from choline (GO:0019285)|lysine catabolic process (GO:0006554)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|betaine-aldehyde dehydrogenase activity (GO:0008802)|L-aminoadipate-semialdehyde dehydrogenase activity (GO:0004043)	p.A277S(1)|p.A332S(1)		endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)		GCAGCCTTACCAATAATGGCA	0.358																																						uc003ktx.2																			2	Substitution - Missense(2)		lung(2)	kidney(2)|ovary(1)	3						c.(913-915)GCC>TCC		aldehyde dehydrogenase 7 family, member A1	NADH(DB00157)|Pyridoxine(DB00165)						139.0	137.0	137.0					5																	125896775		2203	4300	6503	SO:0001630	splice_region_variant	501				cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity	g.chr5:125896775C>A	S74728	CCDS4137.2, CCDS56380.1	5q31	2013-06-03			ENSG00000164904	ENSG00000164904	1.2.1.31	"""Aldehyde dehydrogenases"""	877	protein-coding gene	gene with protein product	"""antiquitin 1"", ""26g turgor protein homolog"", ""alpha-aminoadipic semialdehyde dehydrogenase"", ""alpha-AASA dehydrogenase"", ""delta1-piperideine-6-carboxylate dehydrogenease"", ""P6c dehydrogenase"""	107323		ATQ1		9417906	Standard	NM_001182		Approved	EPD, PDE	uc003ktx.3	P49419	OTTHUMG00000128942	ENST00000409134.3:c.913+1G>T	5.37:g.125896775C>A						ALDH7A1_uc003ktv.2_5'UTR|ALDH7A1_uc003kty.2_RNA|ALDH7A1_uc011cxa.1_Missense_Mutation_p.A332S	p.A305S	NM_001182	NP_001173	P49419	AL7A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	10	1105	-		all_cancers(142;0.24)|Prostate(80;0.081)	305					B2R669|B4DIC7|B4DMA0|E7EPT3|O14619|Q6IPU8|Q9BUL4	Missense_Mutation	SNP	ENST00000409134.3	37	c.913G>T	CCDS4137.2	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431607	0.83776	.	.	ENSG00000164904	ENST00000409134;ENST00000553117;ENST00000447989;ENST00000437170	T;T;T	0.76316	-1.01;-1.01;-1.01	5.9	5.9	0.94986	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.250564	0.40818	N	0.001007	T	0.71126	0.3303	N	0.14661	0.345	0.50171	D	0.999858	P;B	0.34699	0.464;0.148	B;B	0.42738	0.262;0.396	T	0.66408	-0.5931	9	.	.	.	.	19.8718	0.96853	0.0:1.0:0.0:0.0	.	332;305	E7EPT3;P49419	.;AL7A1_HUMAN	S	305;305;332;113	ENSP00000387123:A305S;ENSP00000448593:A305S;ENSP00000414132:A332S	.	A	-	1	0	ALDH7A1	125924674	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.101000	0.76997	2.808000	0.96608	0.650000	0.86243	GCC		PASS	0.358	ALDH7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250921.2	NM_001182	Missense_Mutation	5	140	5	140	---	---	---	---
ADAMTS19	171019	broad.mit.edu	37	5	129001218	129001218	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr5:129001218G>T	ENST00000274487.4	+	16	2579	c.2434G>T	c.(2434-2436)Gct>Tct	p.A812S	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	812	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A812S(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GGTGATACCTGCTGGAGCAAG	0.398																																						uc003kvb.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(2)|lung(1)|skin(1)	9						c.(2434-2436)GCT>TCT		ADAM metallopeptidase with thrombospondin type 1							119.0	107.0	111.0					5																	129001218		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:129001218G>T	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2434G>T	5.37:g.129001218G>T	ENSP00000274487:p.Ala812Ser					ADAMTS19_uc010jdh.1_RNA	p.A812S	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	16	2434	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	812			Spacer.			Missense_Mutation	SNP	ENST00000274487.4	37	c.2434G>T	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.257030	0.39896	.	.	ENSG00000145808	ENST00000274487	T	0.54866	0.55	4.69	2.78	0.32641	ADAM-TS Spacer 1 (1);	0.111706	0.39210	N	0.001421	T	0.40886	0.1135	L	0.35723	1.085	0.38012	D	0.93458	P	0.35192	0.489	B	0.38683	0.279	T	0.30001	-0.9993	9	.	.	.	.	8.3576	0.32340	0.2608:0.0:0.7392:0.0	.	812	Q8TE59	ATS19_HUMAN	S	812	ENSP00000274487:A812S	.	A	+	1	0	ADAMTS19	129029117	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.827000	0.55745	0.798000	0.33994	0.655000	0.94253	GCT		PASS	0.398	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		5	24	5	24	---	---	---	---
FNIP1	96459	broad.mit.edu	37	5	131008511	131008511	+	Silent	SNP	A	A	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr5:131008511A>G	ENST00000510461.1	-	14	1721	c.1626T>C	c.(1624-1626)ttT>ttC	p.F542F	CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Silent_p.F497F|FNIP1_ENST00000307968.7_Silent_p.F514F	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	542					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.F542F(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		AGCATCTTATAAAATAAGTAA	0.413																																						uc003kvs.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1624-1626)TTT>TTC		folliculin interacting protein 1 isoform 1							67.0	70.0	69.0					5																	131008511		2203	4300	6503	SO:0001819	synonymous_variant	96459				regulation of protein phosphorylation	cytoplasm	protein binding	g.chr5:131008511A>G	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1626T>C	5.37:g.131008511A>G						RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Silent_p.F514F|FNIP1_uc010jdm.1_Silent_p.F497F	p.F542F	NM_133372	NP_588613	Q8TF40	FNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	14	1768	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	542					D6RJH5|Q86T47|Q9BUT0	Silent	SNP	ENST00000510461.1	37	c.1626T>C	CCDS34227.1																																																																																				PASS	0.413	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		15	25	15	25	---	---	---	---
WNT8A	7478	broad.mit.edu	37	5	137420286	137420286	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr5:137420286A>T	ENST00000398754.1	+	3	207	c.202A>T	c.(202-204)Aat>Tat	p.N68Y	WNT8A_ENST00000506684.1_Missense_Mutation_p.N86Y	NM_058244.2	NP_490645.1	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	68					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|endoderm development (GO:0007492)|establishment of organ orientation (GO:0048561)|neural crest cell fate commitment (GO:0014034)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|polarity specification of anterior/posterior axis (GO:0009949)|polarity specification of proximal/distal axis (GO:0010085)|regulation of protein localization (GO:0032880)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.N68Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTGCCCTGAAAATGCTCTTCA	0.532																																						uc003lcd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|breast(1)|skin(1)	4						c.(202-204)AAT>TAT		wingless-type MMTV integration site family,							75.0	79.0	78.0					5																	137420286		2090	4242	6332	SO:0001583	missense	7478				brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	g.chr5:137420286A>T	AB057725	CCDS43368.1, CCDS75311.1	5q31	2008-07-18			ENSG00000061492	ENSG00000061492		"""Wingless-type MMTV integration sites"""	12788	protein-coding gene	gene with protein product		606360				11408932	Standard	XM_005272076		Approved	WNT8D	uc003lcd.1	Q9H1J5	OTTHUMG00000129196	ENST00000398754.1:c.202A>T	5.37:g.137420286A>T	ENSP00000381739:p.Asn68Tyr					BRD8_uc003lcc.1_Intron|WNT8A_uc011cyj.1_Missense_Mutation_p.N86Y|WNT8A_uc011cyk.1_Missense_Mutation_p.N86Y	p.N68Y	NM_058244	NP_490645	Q9H1J5	WNT8A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		3	207	+			68					Q96S51	Missense_Mutation	SNP	ENST00000398754.1	37	c.202A>T	CCDS43368.1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.075953	0.55646	.	.	ENSG00000061492	ENST00000506684;ENST00000504809;ENST00000398754	T;T;T	0.76060	-0.99;-0.99;-0.99	4.96	3.78	0.43462	.	0.370492	0.29410	N	0.012223	T	0.64929	0.2643	N	0.26042	0.785	0.37995	D	0.934031	P;P;P	0.44816	0.752;0.844;0.51	P;P;B	0.49597	0.616;0.515;0.225	T	0.63730	-0.6571	10	0.02654	T	1	.	11.9581	0.52993	0.8493:0.1507:0.0:0.0	.	86;86;68	D6RF47;D6RF94;Q9H1J5	.;.;WNT8A_HUMAN	Y	86;86;68	ENSP00000426653:N86Y;ENSP00000424809:N86Y;ENSP00000381739:N68Y	ENSP00000354726:N68Y	N	+	1	0	WNT8A	137448185	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.686000	0.61700	1.007000	0.39238	0.533000	0.62120	AAT		PASS	0.532	WNT8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280395.1	NM_058244		14	31	14	31	---	---	---	---
PCDHA2	56146	broad.mit.edu	37	5	140175262	140175262	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr5:140175262A>G	ENST00000526136.1	+	1	713	c.713A>G	c.(712-714)aAt>aGt	p.N238S	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.N238S|PCDHA2_ENST00000520672.2_Missense_Mutation_p.N238S	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	238	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.N238S(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAAATGACAATGAACCAACT	0.398																																						uc003lhd.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(712-714)AAT>AGT		protocadherin alpha 2 isoform 1 precursor							93.0	99.0	97.0					5																	140175262		2203	4300	6503	SO:0001583	missense	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140175262A>G	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.713A>G	5.37:g.140175262A>G	ENSP00000431748:p.Asn238Ser					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.N238S|PCDHA2_uc011czy.1_Missense_Mutation_p.N238S	p.N238S	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	819	+			238			Extracellular (Potential).|Cadherin 2.		O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.713A>G	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	a	20.8	4.048302	0.75846	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.65178	-0.14;-0.14;-0.14	4.02	4.02	0.46733	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.43110	U	0.000615	D	0.82614	0.5075	H	0.94886	3.595	0.40999	D	0.984911	D;D;D	0.63046	0.992;0.987;0.992	D;P;D	0.65140	0.932;0.524;0.932	D	0.88197	0.2881	10	0.87932	D	0	.	13.3982	0.60868	1.0:0.0:0.0:0.0	.	238;238;238	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	S	238	ENSP00000430584:N238S;ENSP00000367372:N238S;ENSP00000431748:N238S	ENSP00000367372:N238S	N	+	2	0	PCDHA2	140155446	1.000000	0.71417	0.839000	0.33178	0.994000	0.84299	7.209000	0.77916	1.815000	0.52974	0.528000	0.53228	AAT		PASS	0.398	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		10	51	10	51	---	---	---	---
PCDHB4	56131	broad.mit.edu	37	5	140502911	140502911	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr5:140502911A>G	ENST00000194152.1	+	1	1331	c.1331A>G	c.(1330-1332)aAt>aGt	p.N444S	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	444	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N444S(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCGACGTCAATGACAACGCC	0.597																																						uc003lip.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1330-1332)AAT>AGT		protocadherin beta 4 precursor							106.0	98.0	100.0					5																	140502911		2203	4300	6503	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502911A>G	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1331A>G	5.37:g.140502911A>G	ENSP00000194152:p.Asn444Ser						p.N444S	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1331	+			444			Cadherin 4.|Extracellular (Potential).		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.1331A>G	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.941669	0.73557	.	.	ENSG00000081818	ENST00000194152	T	0.70749	-0.51	3.97	3.97	0.46021	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.89252	0.6662	H	0.98238	4.18	0.46131	D	0.998888	D	0.89917	1.0	D	0.91635	0.999	D	0.92643	0.6126	9	0.87932	D	0	.	13.0621	0.59012	1.0:0.0:0.0:0.0	.	444	Q9Y5E5	PCDB4_HUMAN	S	444	ENSP00000194152:N444S	ENSP00000194152:N444S	N	+	2	0	PCDHB4	140483095	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.898000	0.92538	1.817000	0.53016	0.456000	0.33151	AAT		PASS	0.597	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		25	69	25	69	---	---	---	---
PCDHB8	56128	broad.mit.edu	37	5	140558610	140558610	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr5:140558610G>A	ENST00000239444.2	+	1	1240	c.995G>A	c.(994-996)tGc>tAc	p.C332Y	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	332	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.C332Y(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTGGAAAATGCACCGTTCTG	0.433																																						uc011dai.1																			1	Substitution - Missense(1)		lung(1)	skin(4)	4						c.(994-996)TGC>TAC		protocadherin beta 8 precursor							188.0	258.0	234.0					5																	140558610		2203	4300	6503	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558610G>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.995G>A	5.37:g.140558610G>A	ENSP00000239444:p.Cys332Tyr					PCDHB16_uc003liv.2_5'Flank	p.C332Y	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1181	+			332			Cadherin 3.|Extracellular (Potential).		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.995G>A	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.003316	0.35320	.	.	ENSG00000120322	ENST00000239444	T	0.01705	4.68	4.25	4.25	0.50352	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.15739	0.0379	H	0.96301	3.8	0.33006	D	0.526939	D	0.63880	0.993	D	0.70016	0.967	T	0.37865	-0.9687	9	0.87932	D	0	.	12.2188	0.54423	0.0:0.1722:0.8278:0.0	.	332	Q9UN66	PCDB8_HUMAN	Y	332	ENSP00000239444:C332Y	ENSP00000239444:C332Y	C	+	2	0	PCDHB8	140538794	0.452000	0.25713	0.995000	0.50966	0.474000	0.32979	1.608000	0.36847	1.911000	0.55334	0.585000	0.79938	TGC		PASS	0.433	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		36	219	36	219	---	---	---	---
PCDHGB2	56103	broad.mit.edu	37	5	140741324	140741324	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr5:140741324C>T	ENST00000522605.1	+	1	1622	c.1622C>T	c.(1621-1623)gCg>gTg	p.A541V	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_5'Flank	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	541	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A541V(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTCGCCCGCGCTCAGCGCC	0.701																																						uc003ljs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1621-1623)GCG>GTG		protocadherin gamma subfamily B, 2 isoform 1							27.0	33.0	31.0					5																	140741324		2069	4204	6273	SO:0001583	missense	56103				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140741324C>T	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1622C>T	5.37:g.140741324C>T	ENSP00000429018:p.Ala541Val					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.A541V|PCDHGA5_uc011das.1_5'Flank	p.A541V	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1622	+			541			Extracellular (Potential).|Cadherin 5.		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.1622C>T	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	15.76	2.927582	0.52759	.	.	ENSG00000253910	ENST00000522605	T	0.53206	0.63	5.11	5.11	0.69529	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.62295	0.2416	L	0.48642	1.525	0.33851	D	0.632679	P;D	0.76494	0.887;0.999	B;D	0.63597	0.345;0.916	T	0.71781	-0.4489	9	0.72032	D	0.01	.	18.5068	0.90900	0.0:1.0:0.0:0.0	.	541;541	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	V	541	ENSP00000429018:A541V	ENSP00000429018:A541V	A	+	2	0	PCDHGB2	140721508	0.591000	0.26824	0.515000	0.27774	0.014000	0.08584	5.906000	0.69900	2.528000	0.85240	0.467000	0.42956	GCG		PASS	0.701	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		9	17	9	17	---	---	---	---
KCTD16	57528	broad.mit.edu	37	5	143587013	143587013	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr5:143587013C>A	ENST00000507359.3	+	2	1827	c.736C>A	c.(736-738)Cac>Aac	p.H246N	KCTD16_ENST00000512467.1_Missense_Mutation_p.H246N	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	246					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)		p.H246N(1)		large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GTGTGGATTCCACATGGTGGC	0.438																																						uc003lnm.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(736-738)CAC>AAC		potassium channel tetramerisation domain							92.0	90.0	91.0					5																	143587013		2203	4300	6503	SO:0001583	missense	57528					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr5:143587013C>A	AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"""potassium channel tetramerisation domain containing 16"""			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.736C>A	5.37:g.143587013C>A	ENSP00000426548:p.His246Asn					KCTD16_uc003lnn.1_Missense_Mutation_p.H246N	p.H246N	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		3	1365	+		all_hematologic(541;0.118)	246					Q9P2M9	Missense_Mutation	SNP	ENST00000507359.3	37	c.736C>A	CCDS34260.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960978	0.53400	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.47177	0.85;0.85	5.69	5.69	0.88448	.	0.049633	0.85682	D	0.000000	T	0.51907	0.1702	M	0.67700	2.07	0.46396	D	0.999026	B	0.18166	0.026	B	0.18561	0.022	T	0.49224	-0.8962	10	0.56958	D	0.05	.	19.8182	0.96579	0.0:1.0:0.0:0.0	.	246	Q68DU8	KCD16_HUMAN	N	246	ENSP00000424151:H246N;ENSP00000426548:H246N	ENSP00000426548:H246N	H	+	1	0	KCTD16	143567206	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.700000	0.92200	0.561000	0.74099	CAC		PASS	0.438	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368		28	45	28	45	---	---	---	---
TENM2	57451	broad.mit.edu	37	5	167673804	167673804	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr5:167673804G>C	ENST00000518659.1	+	27	5899	c.5860G>C	c.(5860-5862)Gag>Cag	p.E1954Q	TENM2_ENST00000520394.1_Missense_Mutation_p.E1715Q|TENM2_ENST00000403607.2_Missense_Mutation_p.E1778Q|TENM2_ENST00000519204.1_Missense_Mutation_p.E1833Q|TENM2_ENST00000545108.1_Missense_Mutation_p.E1953Q	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1954					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.E1833Q(1)|p.E1787Q(1)|p.E1954Q(1)									GTATATATTTGAGTATGACTC	0.512																																						uc010jjd.2																			3	Substitution - Missense(3)		lung(3)	ovary(6)|central_nervous_system(4)	10						c.(5833-5835)GAG>CAG		odz, odd Oz/ten-m homolog 2							252.0	260.0	258.0					5																	167673804		2083	4209	6292	SO:0001583	missense	57451							g.chr5:167673804G>C	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.5860G>C	5.37:g.167673804G>C	ENSP00000429430:p.Glu1954Gln					ODZ2_uc003lzr.3_Missense_Mutation_p.E1715Q|ODZ2_uc003lzt.3_Missense_Mutation_p.E1318Q|ODZ2_uc010jje.2_Missense_Mutation_p.E1209Q	p.E1945Q	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	27	5833	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.5833G>C		.	.	.	.	.	.	.	.	.	.	G	16.22	3.061679	0.55432	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89343	-2.03;-2.02;-2.13;-2.47;-2.5	5.35	4.44	0.53790	.	0.045415	0.85682	N	0.000000	D	0.92143	0.7509	M	0.66506	2.035	0.53688	D	0.999971	D;D;P	0.63880	0.993;0.988;0.933	D;P;P	0.65573	0.936;0.864;0.542	D	0.89757	0.3944	10	0.11182	T	0.66	.	15.6277	0.76874	0.0:0.1381:0.8619:0.0	.	1953;1954;1715	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	Q	1954;1953;1833;1715;1778	ENSP00000429430:E1954Q;ENSP00000438635:E1953Q;ENSP00000428964:E1833Q;ENSP00000427874:E1715Q;ENSP00000384905:E1778Q	ENSP00000384905:E1778Q	E	+	1	0	ODZ2	167606382	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.869000	0.99810	1.193000	0.43086	0.491000	0.48974	GAG		PASS	0.512	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		8	259	8	259	---	---	---	---
TENM2	57451	broad.mit.edu	37	5	167674284	167674284	+	Missense_Mutation	SNP	G	G	T	rs201922736		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr5:167674284G>T	ENST00000518659.1	+	27	6379	c.6340G>T	c.(6340-6342)Gtt>Ttt	p.V2114F	TENM2_ENST00000520394.1_Missense_Mutation_p.V1875F|TENM2_ENST00000403607.2_Missense_Mutation_p.V1938F|TENM2_ENST00000519204.1_Missense_Mutation_p.V1993F|TENM2_ENST00000545108.1_Missense_Mutation_p.V2113F	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2114					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.V1993F(1)|p.V1947F(1)|p.V2114F(1)									TCCCCTCCCCGTTGACCTCTA	0.493																																						uc010jjd.2																			3	Substitution - Missense(3)		lung(3)	ovary(6)|central_nervous_system(4)	10						c.(6313-6315)GTT>TTT		odz, odd Oz/ten-m homolog 2							177.0	174.0	175.0					5																	167674284		2019	4176	6195	SO:0001583	missense	57451							g.chr5:167674284G>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.6340G>T	5.37:g.167674284G>T	ENSP00000429430:p.Val2114Phe					ODZ2_uc003lzr.3_Missense_Mutation_p.V1875F|ODZ2_uc003lzt.3_Missense_Mutation_p.V1478F|ODZ2_uc010jje.2_Missense_Mutation_p.V1369F	p.V2105F	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	27	6313	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.6313G>T		.	.	.	.	.	.	.	.	.	.	G	14.77	2.634663	0.47049	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89485	-2.04;-2.03;-2.15;-2.51;-2.52	5.44	5.44	0.79542	.	0.104916	0.64402	D	0.000004	D	0.92420	0.7594	L	0.44542	1.39	0.58432	D	0.999999	D;D;D	0.76494	0.996;0.994;0.999	D;P;D	0.81914	0.958;0.888;0.995	D	0.91852	0.5492	10	0.44086	T	0.13	.	19.2461	0.93902	0.0:0.0:1.0:0.0	.	2113;2114;1875	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	F	2114;2113;1993;1875;1938	ENSP00000429430:V2114F;ENSP00000438635:V2113F;ENSP00000428964:V1993F;ENSP00000427874:V1875F;ENSP00000384905:V1938F	ENSP00000384905:V1938F	V	+	1	0	ODZ2	167606862	1.000000	0.71417	0.752000	0.31206	0.359000	0.29487	5.714000	0.68422	2.560000	0.86352	0.561000	0.74099	GTT		PASS	0.493	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		36	114	36	114	---	---	---	---
RANBP17	64901	broad.mit.edu	37	5	170610401	170610401	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr5:170610401A>G	ENST00000523189.1	+	18	2169	c.2005A>G	c.(2005-2007)Aca>Gca	p.T669A	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	669					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)	p.T669A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AACCTTCTACACAGCGCTCAC	0.408			T	TRD@	ALL																																	uc003mba.2				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2005-2007)ACA>GCA		RAN binding protein 17							98.0	88.0	91.0					5																	170610401		2203	4300	6503	SO:0001583	missense	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170610401A>G	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.2005A>G	5.37:g.170610401A>G	ENSP00000427975:p.Thr669Ala					RANBP17_uc003mbb.2_5'UTR|RANBP17_uc003mbd.2_Missense_Mutation_p.T32A|RANBP17_uc010jjs.2_RNA|RANBP17_uc003mbc.2_Missense_Mutation_p.T32A	p.T669A	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		18	2021	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	669					Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	c.2005A>G	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	A	15.48	2.846400	0.51164	.	.	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.67171	-0.25	5.35	5.35	0.76521	Armadillo-type fold (1);	0.093541	0.46442	D	0.000283	T	0.54319	0.1851	L	0.39514	1.22	0.48236	D	0.999614	B;B	0.29590	0.25;0.25	B;B	0.25506	0.061;0.061	T	0.51419	-0.8708	10	0.12766	T	0.61	-12.3251	13.8571	0.63534	1.0:0.0:0.0:0.0	.	669;669	Q546R4;Q9H2T7	.;RBP17_HUMAN	A	669;99	ENSP00000427975:T669A	ENSP00000427975:T669A	T	+	1	0	RANBP17	170543006	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.878000	0.87231	2.140000	0.66376	0.459000	0.35465	ACA		PASS	0.408	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		12	58	12	58	---	---	---	---
BTNL9	153579	broad.mit.edu	37	5	180486679	180486679	+	Silent	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr5:180486679C>T	ENST00000327705.9	+	11	1656	c.1425C>T	c.(1423-1425)caC>caT	p.H475H	BTNL9_ENST00000376842.3_Silent_p.H476H	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	475	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)		p.H475H(1)		breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCACCTTCCACGACACCTTCT	0.672																																						uc003mmt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1423-1425)CAC>CAT		butyrophilin-like 9 precursor							38.0	37.0	38.0					5																	180486679		2203	4299	6502	SO:0001819	synonymous_variant	153579					integral to membrane		g.chr5:180486679C>T	AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.1425C>T	5.37:g.180486679C>T							p.H475H	NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	1656	+	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	475			Cytoplasmic (Potential).|B30.2/SPRY.		A6NL42|Q6P660|Q96DM5	Silent	SNP	ENST00000327705.9	37	c.1425C>T	CCDS4460.2																																																																																				PASS	0.672	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547		6	9	6	9	---	---	---	---
EXOC2	55770	broad.mit.edu	37	6	633008	633008	+	Silent	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:633008G>T	ENST00000230449.4	-	3	363	c.228C>A	c.(226-228)gtC>gtA	p.V76V	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	76	IPT/TIG.				cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V76V(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		ACTTAGTGGTGACAATAATGT	0.408																																						uc003mtd.2																			1	Substitution - coding silent(1)		lung(1)	breast(4)|ovary(2)|pancreas(1)	7						c.(226-228)GTC>GTA		Sec5 protein							167.0	143.0	151.0					6																	633008		2203	4300	6503	SO:0001819	synonymous_variant	55770				exocytosis|protein transport			g.chr6:633008G>T	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.228C>A	6.37:g.633008G>T						EXOC2_uc003mte.2_Silent_p.V76V|EXOC2_uc011dho.1_Intron	p.V76V	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	3	362	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	76			IPT/TIG.		B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Silent	SNP	ENST00000230449.4	37	c.228C>A	CCDS34327.1																																																																																				PASS	0.408	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		9	34	9	34	---	---	---	---
ALDH5A1	7915	broad.mit.edu	37	6	24523060	24523060	+	Silent	SNP	C	C	T	rs571602201		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:24523060C>T	ENST00000357578.3	+	7	1225	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F	ALDH5A1_ENST00000348925.2_Silent_p.F373F|ALDH5A1_ENST00000491546.1_Silent_p.F332F|ALDH5A1_ENST00000546278.1_Silent_p.F272F	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	360					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)	p.F373F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	TAAAAGCATTCGCCGAGGCCA	0.448													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16893	0.0		0.0	False		,,,				2504	0.0					uc003neg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1078-1080)TTC>TTT		aldehyde dehydrogenase 5A1 isoform 2 precursor	Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)						144.0	144.0	144.0					6																	24523060		2203	4300	6503	SO:0001819	synonymous_variant	7915				acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity	g.chr6:24523060C>T	L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"""Aldehyde dehydrogenases"""	408	protein-coding gene	gene with protein product	"""succinate-semialdehyde dehydrogenase"""	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.1080C>T	6.37:g.24523060C>T						ALDH5A1_uc003nef.2_Silent_p.F373F	p.F360F	NM_001080	NP_001071	P51649	SSDH_HUMAN			7	1108	+			360					B2RD26|G5E949|Q546H9|Q8N3W6	Silent	SNP	ENST00000357578.3	37	c.1080C>T	CCDS4555.1																																																																																				PASS	0.448	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2			9	95	9	95	---	---	---	---
HIST1H2BD	3017	broad.mit.edu	37	6	26158772	26158772	+	Silent	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:26158772C>A	ENST00000289316.2	+	1	399	c.375C>A	c.(373-375)tcC>tcA	p.S125S	HIST1H2BD_ENST00000377777.4_Silent_p.S125S	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	125					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S125S(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						ACACCAGTTCCAAGTAACTTT	0.512																																						uc003ngr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(373-375)TCC>TCA		histone cluster 1, H2bd							62.0	68.0	66.0					6																	26158772		2203	4300	6503	SO:0001819	synonymous_variant	3017				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26158772C>A	M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"""Histones / Replication-dependent"""	4747	protein-coding gene	gene with protein product		602799	"""H2B histone family, member B"", ""histone 1, H2bd"""	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.375C>A	6.37:g.26158772C>A						HIST1H2BD_uc003ngs.2_Silent_p.S125S	p.S125S	NM_021063	NP_066407	P58876	H2B1D_HUMAN			1	424	+			125						Silent	SNP	ENST00000289316.2	37	c.375C>A	CCDS4587.1																																																																																				PASS	0.512	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063		5	70	5	70	---	---	---	---
ZNF391	346157	broad.mit.edu	37	6	27368656	27368656	+	Silent	SNP	A	A	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:27368656A>G	ENST00000244576.4	+	3	1052	c.507A>G	c.(505-507)gaA>gaG	p.E169E		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	169					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.E169E(2)		endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						AATGCAATGAATGTGGAAAAG	0.383																																						uc003njf.1																			2	Substitution - coding silent(2)		lung(2)	pancreas(2)|skin(1)	3						c.(505-507)GAA>GAG		zinc finger protein 391							80.0	88.0	85.0					6																	27368656		2196	4298	6494	SO:0001819	synonymous_variant	346157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27368656A>G	BC132797	CCDS43429.1	6p21	2013-01-08			ENSG00000124613	ENSG00000124613		"""Zinc fingers, C2H2-type"""	18779	protein-coding gene	gene with protein product							Standard	NM_001076781		Approved	dJ153G14.3	uc003njf.1	Q9UJN7	OTTHUMG00000014477	ENST00000244576.4:c.507A>G	6.37:g.27368656A>G							p.E169E	NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN			3	1025	+			169			C2H2-type 3.		B4DH77	Silent	SNP	ENST00000244576.4	37	c.507A>G	CCDS43429.1																																																																																				PASS	0.383	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040145.2	NM_001076781		18	81	18	81	---	---	---	---
OR2B2	81697	broad.mit.edu	37	6	27879341	27879341	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:27879341C>A	ENST00000303324.2	-	1	833	c.757G>T	c.(757-759)Ggt>Tgt	p.G253C		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, 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.G253C(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						ATAGCTGTACCATAAAAAAGT	0.463																																						uc011dkw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(757-759)GGT>TGT		olfactory receptor, family 2, subfamily B,							115.0	104.0	108.0					6																	27879341		2203	4300	6503	SO:0001583	missense	81697				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27879341C>A	Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"""GPCR / Class A : Olfactory receptors"""	13966	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.757G>T	6.37:g.27879341C>A	ENSP00000304419:p.Gly253Cys						p.G253C	NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN			1	757	-			253			Helical; Name=6; (Potential).		B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	ENST00000303324.2	37	c.757G>T	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.504231	0.44558	.	.	ENSG00000168131	ENST00000303324	T	0.38722	1.12	4.42	3.46	0.39613	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39985	U	0.001206	T	0.58779	0.2146	M	0.90145	3.09	0.25348	N	0.988899	D	0.89917	1.0	D	0.81914	0.995	T	0.50541	-0.8816	10	0.72032	D	0.01	.	11.2072	0.48775	0.1841:0.8159:0.0:0.0	.	253	Q9GZK3	OR2B2_HUMAN	C	253	ENSP00000304419:G253C	ENSP00000304419:G253C	G	-	1	0	OR2B2	27987320	0.001000	0.12720	1.000000	0.80357	0.499000	0.33736	0.695000	0.25527	2.371000	0.80710	0.563000	0.77884	GGT		PASS	0.463	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1			5	73	5	73	---	---	---	---
GPX6	257202	broad.mit.edu	37	6	28472214	28472214	+	Nonstop_Mutation	SNP	A	A	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:28472214A>G	ENST00000474923.1	-	4	464	c.421T>C	c.(421-423)Tga>Cga	p.*141R	GPX6_ENST00000483058.1_5'Flank|GPX6_ENST00000361902.1_Missense_Mutation_p.M174T			P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	0					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)	p.M174T(1)		NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	ATGGACCTTCATGGGCTCCCA	0.498																																						uc011dlj.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(520-522)ATG>ACG		glutathione peroxidase 6 precursor	Glutathione(DB00143)						63.0	63.0	63.0					6																	28472214		1873	4122	5995	SO:0001578	stop_lost	257202				response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr6:28472214A>G		CCDS43432.1	6p22.1	2012-03-01			ENSG00000198704	ENSG00000198704	1.11.1.9		4558	protein-coding gene	gene with protein product		607913	"""glutathione peroxidase pseudogene 3"""	GPXP3			Standard	NM_182701		Approved		uc021yrx.1	P59796	OTTHUMG00000044828	ENST00000474923.1:c.421T>C	6.37:g.28472214A>G	Exception_encountered					GPX6_uc010jrg.1_RNA	p.M174T	NM_182701	NP_874360	P59796	GPX6_HUMAN			6	571	-			174					Q4PJ17	Missense_Mutation	SNP	ENST00000474923.1	37	c.521T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.88|15.88	2.962600|2.962600	0.53400|0.53400	.|.	.|.	ENSG00000198704|ENSG00000198704	ENST00000361902|ENST00000474923	T|.	0.03920|.	3.76|.	4.31|4.31	3.14|3.14	0.36123|0.36123	Thioredoxin-like fold (2);|.	0.360816|.	0.34777|.	N|.	0.003690|.	T|.	0.60314|.	0.2259|.	M|M	0.78801|0.78801	2.425|2.425	0.80722|0.80722	D|D	1|1	B|.	0.27997|.	0.197|.	B|.	0.29598|.	0.104|.	T|.	0.62402|.	-0.6862|.	10|.	0.87932|.	D|.	0|.	.|.	8.5665|8.5665	0.33543|0.33543	0.9059:0.0:0.0941:0.0|0.9059:0.0:0.0941:0.0	.|.	174|.	P59796|.	GPX6_HUMAN|.	T|R	174|141	ENSP00000354581:M174T|.	ENSP00000354581:M174T|.	M|X	-|-	2|1	0|0	GPX6|GPX6	28580193|28580193	1.000000|1.000000	0.71417|0.71417	0.953000|0.953000	0.39169|0.39169	0.990000|0.990000	0.78478|0.78478	5.954000|5.954000	0.70298|0.70298	0.962000|0.962000	0.38057|0.38057	0.482000|0.482000	0.46254|0.46254	ATG|TGA		PASS	0.498	GPX6-002	PUTATIVE	basic|exp_conf|seleno	protein_coding	protein_coding	OTTHUMT00000356246.5			6	34	6	34	---	---	---	---
OR5V1	81696	broad.mit.edu	37	6	29323727	29323727	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:29323727C>T	ENST00000377154.1	-	4	545	c.246G>A	c.(244-246)atG>atA	p.M82I	OR5V1_ENST00000543825.1_Missense_Mutation_p.M82I			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M82I(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGAGGTGCACCATCATCTGGG	0.433																																					Ovarian(32;43 883 21137 32120 42650)	uc011dlo.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)	4						c.(244-246)ATG>ATA		olfactory receptor, family 5, subfamily V,							114.0	110.0	111.0					6																	29323727		2203	4299	6502	SO:0001583	missense	81696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29323727C>T		CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"""GPCR / Class A : Olfactory receptors"""	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.246G>A	6.37:g.29323727C>T	ENSP00000366359:p.Met82Ile						p.M82I	NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN			1	328	-			82			Extracellular (Potential).		A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	ENST00000377154.1	37	c.246G>A	CCDS4657.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.519801	0.27211	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.00314	8.14;8.14	4.22	3.34	0.38264	GPCR, rhodopsin-like superfamily (1);	0.198595	0.25006	N	0.033863	T	0.00039	0.0001	N	0.10685	0.025	0.31313	N	0.686929	B	0.23540	0.087	B	0.23852	0.049	T	0.19095	-1.0316	10	0.87932	D	0	-30.8998	12.5311	0.56115	0.0:0.911:0.0:0.089	.	82	Q9UGF6	OR5V1_HUMAN	I	82	ENSP00000366359:M82I;ENSP00000443309:M82I	ENSP00000366356:M82I	M	-	3	0	OR5V1	29431706	0.000000	0.05858	1.000000	0.80357	0.469000	0.32828	-0.530000	0.06179	2.329000	0.79093	0.536000	0.68110	ATG		PASS	0.433	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			16	97	16	97	---	---	---	---
TRIM39	56658	broad.mit.edu	37	6	30309968	30309968	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:30309968C>T	ENST00000396547.1	+	8	1649	c.1489C>T	c.(1489-1491)Cca>Tca	p.P497S	RPP21_ENST00000436442.2_5'Flank|TRIM39_ENST00000376659.5_Missense_Mutation_p.P467S|RPP21_ENST00000433076.2_5'Flank|RPP21_ENST00000428040.2_5'Flank|TRIM39_ENST00000396551.3_Missense_Mutation_p.P467S|TRIM39_ENST00000540416.1_Missense_Mutation_p.P467S|TRIM39-RPP21_ENST00000513556.1_Intron|RPP21_ENST00000442966.2_5'Flank|TRIM39_ENST00000396548.1_Missense_Mutation_p.P467S|TRIM39_ENST00000376656.4_Missense_Mutation_p.P497S			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	497	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.P497S(1)		ovary(3)	3						CCTCTTCTACCCAGGCATCCG	0.527																																						uc010jrz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1489-1491)CCA>TCA		tripartite motif-containing 39 isoform 1							88.0	84.0	85.0					6																	30309968		1511	2708	4219	SO:0001583	missense	56658				apoptosis	cytosol|mitochondrion	identical protein binding|zinc ion binding	g.chr6:30309968C>T	BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10065	protein-coding gene	gene with protein product		605700	"""ring finger protein 23"", ""tripartite motif-containing 39"""	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.1489C>T	6.37:g.30309968C>T	ENSP00000379796:p.Pro497Ser					TRIM39_uc003npz.2_Missense_Mutation_p.P467S|TRIM39_uc003nqb.2_Missense_Mutation_p.P467S|TRIM39_uc003nqc.2_Missense_Mutation_p.P467S|TRIM39_uc010jsa.1_Intron|RPP21_uc003nqd.1_5'Flank|RPP21_uc003nqe.1_5'Flank|RPP21_uc003nqf.1_5'Flank	p.P497S	NM_021253	NP_067076	Q9HCM9	TRI39_HUMAN			9	1801	+			497			B30.2/SPRY.		Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	ENST00000396547.1	37	c.1489C>T	CCDS34377.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.895834	0.72639	.	.	ENSG00000204599	ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000396548;ENST00000376659;ENST00000396547	T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	6.17	6.17	0.99709	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.076345	0.56097	D	0.000032	T	0.80788	0.4690	M	0.79926	2.475	0.44194	D	0.997014	D;D	0.89917	1.0;0.979	D;B	0.75484	0.986;0.446	T	0.80188	-0.1486	10	0.54805	T	0.06	.	18.3732	0.90420	0.0:1.0:0.0:0.0	.	497;467	Q9HCM9;Q9HCM9-2	TRI39_HUMAN;.	S	467;497;497;467;467;467;497	ENSP00000379800:P467S;ENSP00000365844:P497S;ENSP00000439400:P467S;ENSP00000379797:P467S;ENSP00000365847:P467S;ENSP00000379796:P497S	ENSP00000365844:P497S	P	+	1	0	TRIM39	30417947	0.912000	0.30974	1.000000	0.80357	0.998000	0.95712	3.439000	0.52878	2.941000	0.99782	0.655000	0.94253	CCA		PASS	0.527	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		14	40	14	40	---	---	---	---
C6orf136	221545	broad.mit.edu	37	6	30619146	30619146	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:30619146G>A	ENST00000376473.5	+	4	826	c.667G>A	c.(667-669)Gag>Aag	p.E223K	AL662800.2_ENST00000583820.1_RNA|C6orf136_ENST00000293604.6_Missense_Mutation_p.E404K|C6orf136_ENST00000376471.4_Missense_Mutation_p.E89K|C6orf136_ENST00000528347.2_Missense_Mutation_p.E80K	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	223						mitochondrion (GO:0005739)		p.E80K(1)|p.E404K(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CCGCCACCCTGAGAACTGGAC	0.552																																						uc003nqw.3																			2	Substitution - Missense(2)		lung(2)		0						c.(667-669)GAG>AAG		hypothetical protein LOC221545 isoform 1							174.0	189.0	184.0					6																	30619146		2203	4300	6503	SO:0001583	missense	221545							g.chr6:30619146G>A	BC016167	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	6p21.32	2012-02-06			ENSG00000204564	ENSG00000204564			21301	protein-coding gene	gene with protein product							Standard	NM_001109938		Approved	Em:AB023049.8	uc003nqx.4	Q5SQH8	OTTHUMG00000031221	ENST00000376473.5:c.667G>A	6.37:g.30619146G>A	ENSP00000365656:p.Glu223Lys					C6orf136_uc003nqx.3_Missense_Mutation_p.E404K|C6orf136_uc011dmn.1_Missense_Mutation_p.E89K	p.E223K	NM_001109938	NP_001103408	Q5SQH8	CF136_HUMAN			4	860	+			223					A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	Missense_Mutation	SNP	ENST00000376473.5	37	c.667G>A	CCDS43443.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635075	0.87760	.	.	ENSG00000204564	ENST00000293604;ENST00000376473;ENST00000376471;ENST00000446773;ENST00000528347;ENST00000465699;ENST00000467801	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.53834	0.1821	M	0.61703	1.905	0.58432	D	0.99999	P;B;P	0.49635	0.711;0.147;0.926	P;B;P	0.48815	0.482;0.057;0.591	T	0.53906	-0.8372	8	.	.	.	-19.1893	15.7663	0.78128	0.0:0.0:1.0:0.0	.	89;404;223	A9R9P9;F8VX15;Q5SQH8	.;.;CF136_HUMAN	K	404;223;89;341;80;45;36	.	.	E	+	1	0	C6orf136	30727125	1.000000	0.71417	0.976000	0.42696	0.913000	0.54294	6.267000	0.72546	2.699000	0.92147	0.655000	0.94253	GAG		PASS	0.552	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076457.4	NM_145029		60	170	60	170	---	---	---	---
CCHCR1	54535	broad.mit.edu	37	6	31112669	31112669	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:31112669G>T	ENST00000376266.5	-	14	1913	c.1791C>A	c.(1789-1791)taC>taA	p.Y597*	CCHCR1_ENST00000451521.2_Nonsense_Mutation_p.Y650*|CCHCR1_ENST00000396263.2_Nonsense_Mutation_p.Y544*|CCHCR1_ENST00000396268.3_Nonsense_Mutation_p.Y686*	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	597					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Y597*(1)|p.Y686*(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CACCTTGCCCGTAGAGTTCCT	0.627																																						uc003nsr.3																			2	Substitution - Nonsense(2)		lung(2)	skin(1)	1						c.(1789-1791)TAC>TAA		coiled-coil alpha-helical rod protein 1 isoform							94.0	96.0	95.0					6																	31112669		2203	4300	6503	SO:0001587	stop_gained	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31112669G>T	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.1791C>A	6.37:g.31112669G>T	ENSP00000365442:p.Tyr597*					CCHCR1_uc011dne.1_Nonsense_Mutation_p.Y597*|CCHCR1_uc003nsq.3_Nonsense_Mutation_p.Y650*|CCHCR1_uc003nsp.3_Nonsense_Mutation_p.Y686*|CCHCR1_uc010jsk.1_Nonsense_Mutation_p.Y597*	p.Y597*	NM_019052	NP_061925	Q8TD31	CCHCR_HUMAN			14	1914	-			597			Potential.		A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Nonsense_Mutation	SNP	ENST00000376266.5	37	c.1791C>A	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143152	0.57044	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521	.	.	.	5.11	-7.13	0.01532	.	0.380726	0.24357	N	0.039224	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.1501	14.9207	0.70835	0.704:0.0:0.296:0.0	.	.	.	.	X	686;597;544;597;650	.	ENSP00000365442:Y597X	Y	-	3	2	CCHCR1	31220648	0.800000	0.28916	0.017000	0.16124	0.084000	0.17831	-0.512000	0.06313	-1.558000	0.01690	-0.741000	0.03529	TAC		PASS	0.627	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		4	98	4	98	---	---	---	---
SKIV2L	6499	broad.mit.edu	37	6	31936487	31936487	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:31936487C>T	ENST00000375394.2	+	25	3207	c.3094C>T	c.(3094-3096)Cag>Tag	p.Q1032*	SKIV2L_ENST00000544581.1_Nonsense_Mutation_p.Q839*|DXO_ENST00000478221.1_5'Flank	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	1032					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)	p.Q1032*(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GGAGCGAATGCAGATACAGAA	0.597																																						uc003nyn.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(3094-3096)CAG>TAG		superkiller viralicidic activity 2-like homolog							104.0	104.0	104.0					6																	31936487		1508	2709	4217	SO:0001587	stop_gained	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31936487C>T		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.3094C>T	6.37:g.31936487C>T	ENSP00000364543:p.Gln1032*					SKIV2L_uc011dou.1_Nonsense_Mutation_p.Q874*|SKIV2L_uc011dov.1_Nonsense_Mutation_p.Q839*|STK19_uc003nyt.2_5'Flank	p.Q1032*	NM_006929	NP_008860	Q15477	SKIV2_HUMAN			25	3483	+			1032					O15005|Q12902|Q15476|Q5ST66	Nonsense_Mutation	SNP	ENST00000375394.2	37	c.3094C>T	CCDS4731.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.791903|8.791903	0.98956|0.98956	.|.	.|.	ENSG00000204351|ENSG00000204351	ENST00000491994|ENST00000375394;ENST00000433155;ENST00000544581	.|.	.|.	.|.	5.11|5.11	3.29|3.29	0.37713|0.37713	.|.	.|0.416177	.|0.28504	.|N	.|0.015101	T|.	0.50531|.	0.1621|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.51156|.	-0.8741|.	3|.	.|0.32370	.|T	.|0.25	-13.4424|-13.4424	14.7474|14.7474	0.69499|0.69499	0.0:0.7404:0.2596:0.0|0.0:0.7404:0.2596:0.0	.|.	.|.	.|.	.|.	V|X	30|1032;874;839	.|.	.|ENSP00000364543:Q1032X	A|Q	+|+	2|1	0|0	SKIV2L|SKIV2L	32044466|32044466	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.943000|0.943000	0.58893|0.58893	2.965000|2.965000	0.49200|0.49200	0.636000|0.636000	0.30508|0.30508	-0.344000|-0.344000	0.07964|0.07964	GCA|CAG		PASS	0.597	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			7	57	7	57	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32032739	32032739	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:32032739G>T	ENST00000375244.3	-	19	6901	c.6700C>A	c.(6700-6702)Cag>Aag	p.Q2234K	TNXB_ENST00000375247.2_Missense_Mutation_p.Q2234K			P22105	TENX_HUMAN	tenascin XB	2306	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.Q2321K(1)|p.Q2234K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCTTGGGCTGCCCGTCCCCA	0.607																																						uc003nzl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(6700-6702)CAG>AAG		tenascin XB isoform 1 precursor							31.0	35.0	33.0					6																	32032739		1264	2540	3804	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32032739G>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.6700C>A	6.37:g.32032739G>T	ENSP00000364393:p.Gln2234Lys						p.Q2234K	NM_019105	NP_061978	P22105	TENX_HUMAN			19	6902	-			2306			Fibronectin type-III 15.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.6700C>A		.	.	.	.	.	.	.	.	.	.	G	11.35	1.612025	0.28712	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57436	0.4;0.4	4.82	4.82	0.62117	.	0.232854	0.22573	N	0.058312	T	0.28333	0.0700	M	0.67953	2.075	0.25667	N	0.985931	B	0.14805	0.011	B	0.12156	0.007	T	0.11203	-1.0597	10	0.13470	T	0.59	.	10.4668	0.44614	0.0:0.0:0.8061:0.1939	.	2234	P22105-3	.	K	2234	ENSP00000364393:Q2234K;ENSP00000364396:Q2234K	ENSP00000364393:Q2234K	Q	-	1	0	TNXB	32140717	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	1.302000	0.33459	2.484000	0.83849	0.591000	0.81541	CAG		PASS	0.607	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		6	27	6	27	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32037522	32037522	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:32037522G>A	ENST00000375244.3	-	15	5596	c.5395C>T	c.(5395-5397)Cct>Tct	p.P1799S	TNXB_ENST00000375247.2_Missense_Mutation_p.P1799S			P22105	TENX_HUMAN	tenascin XB	1881	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.P1886S(1)|p.P1799S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGGCCCTCAGGGACTGTCCAG	0.637																																						uc003nzl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(5395-5397)CCT>TCT		tenascin XB isoform 1 precursor							21.0	24.0	23.0					6																	32037522		2055	4198	6253	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32037522G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5395C>T	6.37:g.32037522G>A	ENSP00000364393:p.Pro1799Ser						p.P1799S	NM_019105	NP_061978	P22105	TENX_HUMAN			15	5597	-			1881			Fibronectin type-III 11.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.5395C>T		.	.	.	.	.	.	.	.	.	.	G	13.64	2.298804	0.40694	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.62941	-0.01;-0.01	5.5	2.65	0.31530	.	0.616456	0.14570	N	0.311516	T	0.41259	0.1151	M	0.66560	2.04	0.25309	N	0.989216	B	0.28233	0.204	B	0.36289	0.221	T	0.46190	-0.9209	10	0.46703	T	0.11	.	5.3509	0.16036	0.1745:0.0:0.664:0.1615	.	1799	P22105-3	.	S	1799	ENSP00000364393:P1799S;ENSP00000364396:P1799S	ENSP00000364393:P1799S	P	-	1	0	TNXB	32145500	0.836000	0.29430	0.953000	0.39169	0.994000	0.84299	0.615000	0.24329	0.250000	0.21479	0.591000	0.81541	CCT		PASS	0.637	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		10	21	10	21	---	---	---	---
C6orf10	10665	broad.mit.edu	37	6	32260883	32260883	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:32260883C>A	ENST00000447241.2	-	23	1739	c.1567G>T	c.(1567-1569)Ggt>Tgt	p.G523C	C6orf10_ENST00000375007.4_Missense_Mutation_p.G521C|C6orf10_ENST00000442822.2_Intron|C6orf10_ENST00000375015.4_Missense_Mutation_p.G522C|C6orf10_ENST00000533191.1_Missense_Mutation_p.G521C|C6orf10_ENST00000527965.1_Missense_Mutation_p.G507C	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	523	Lys-rich.					integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.G523C(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						cctttgtcaccttttgtgttt	0.353																																						uc011dpy.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1567-1569)GGT>TGT		chromosome 6 open reading frame 10							89.0	94.0	92.0					6																	32260883		1511	2709	4220	SO:0001583	missense	10665					integral to membrane		g.chr6:32260883C>A	U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.1567G>T	6.37:g.32260883C>A	ENSP00000415517:p.Gly523Cys					C6orf10_uc011dpx.1_Intron	p.G523C	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN			12	1740	-			523			Lys-rich.		A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Missense_Mutation	SNP	ENST00000447241.2	37	c.1567G>T	CCDS34422.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.297609	0.40694	.	.	ENSG00000204296	ENST00000447241;ENST00000375015;ENST00000533191;ENST00000527965;ENST00000375007;ENST00000375002;ENST00000305725	T;T;T;T;T	0.04317	3.66;3.66;3.66;3.66;3.65	4.35	-6.16	0.02098	.	.	.	.	.	T	0.03136	0.0092	L	0.47716	1.5	0.09310	N	1	D	0.57257	0.979	P	0.50192	0.634	T	0.01156	-1.1434	9	0.72032	D	0.01	5.4766	15.2532	0.73564	0.0:0.1787:0.0:0.8213	.	523	Q5SRN2	CF010_HUMAN	C	523;522;521;507;521;520;520	ENSP00000415517:G523C;ENSP00000364155:G522C;ENSP00000431199:G521C;ENSP00000435103:G507C;ENSP00000364146:G521C	ENSP00000303292:G520C	G	-	1	0	C6orf10	32368861	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.375000	0.01071	-1.605000	0.01593	0.555000	0.69702	GGT		PASS	0.353	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076178.4	NM_006781		4	33	4	33	---	---	---	---
GLTSCR1L	23506	broad.mit.edu	37	6	42797822	42797822	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:42797822C>A	ENST00000314073.5	+	6	1927	c.1751C>A	c.(1750-1752)tCt>tAt	p.S584Y	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S584Y			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	584								p.S584Y(1)									GTCAGTGTGTCTCATCGTCTT	0.488																																						uc003osn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1750-1752)TCT>TAT		hypothetical protein LOC23506							100.0	97.0	98.0					6																	42797822		2203	4300	6503	SO:0001583	missense	23506							g.chr6:42797822C>A	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.1751C>A	6.37:g.42797822C>A	ENSP00000313933:p.Ser584Tyr					KIAA0240_uc003osm.1_Missense_Mutation_p.S584Y|KIAA0240_uc011duw.1_Missense_Mutation_p.S584Y|KIAA0240_uc003oso.1_Missense_Mutation_p.S584Y|KIAA0240_uc003osp.1_Missense_Mutation_p.S584Y	p.S584Y	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)		6	1902	+	Colorectal(47;0.196)		584					A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.1751C>A	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196059	0.58126	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.48836	0.8;0.8	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000001	T	0.60715	0.2290	L	0.51422	1.61	0.47584	D	0.999468	D;D;D	0.69078	0.997;0.988;0.988	D;P;P	0.80764	0.994;0.804;0.804	T	0.59429	-0.7456	10	0.66056	D	0.02	-11.2664	20.6397	0.99537	0.0:1.0:0.0:0.0	.	584;584;584	F5H616;Q6AI39;B7Z2G7	.;K0240_HUMAN;.	Y	584	ENSP00000313933:S584Y;ENSP00000377723:S584Y	ENSP00000313933:S584Y	S	+	2	0	KIAA0240	42905800	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	3.371000	0.52379	2.880000	0.98712	0.650000	0.86243	TCT		PASS	0.488	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		16	49	16	49	---	---	---	---
ABCC10	89845	broad.mit.edu	37	6	43400305	43400305	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:43400305G>T	ENST00000372530.4	+	3	802	c.587G>T	c.(586-588)cGa>cTa	p.R196L	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000244533.3_Missense_Mutation_p.R153L	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	196					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.R153L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GGGGGACCACGAGAACCCTGG	0.627																																						uc003ouy.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(1)	7						c.(586-588)CGA>CTA		ATP-binding cassette, sub-family C, member 10							68.0	71.0	70.0					6																	43400305		2201	4300	6501	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43400305G>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.587G>T	6.37:g.43400305G>T	ENSP00000361608:p.Arg196Leu					ABCC10_uc003ouz.1_Missense_Mutation_p.R153L	p.R196L	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		3	802	+	all_lung(25;0.00536)		196					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.587G>T	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	7.099	0.573650	0.13623	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	T;T	0.36878	1.23;1.23	5.76	-5.87	0.02297	.	0.558261	0.19062	N	0.123725	T	0.07413	0.0187	L	0.27053	0.805	0.09310	N	1	B;B	0.28082	0.151;0.2	B;B	0.25987	0.041;0.065	T	0.16837	-1.0389	10	0.27785	T	0.31	-28.9424	11.6042	0.51022	0.581:0.0839:0.3351:0.0	.	153;196	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	L	196;153	ENSP00000361608:R196L;ENSP00000244533:R153L	ENSP00000244533:R153L	R	+	2	0	ABCC10	43508283	0.000000	0.05858	0.000000	0.03702	0.297000	0.27493	-3.571000	0.00427	-1.380000	0.02115	0.561000	0.74099	CGA		PASS	0.627	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		5	62	5	62	---	---	---	---
GPR115	221393	broad.mit.edu	37	6	47682138	47682138	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:47682138C>A	ENST00000283303.2	+	6	1415	c.1157C>A	c.(1156-1158)tCt>tAt	p.S386Y	GPR115_ENST00000327753.3_Missense_Mutation_p.S386Y|RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000371220.1_Missense_Mutation_p.S443Y	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	386	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S386Y(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GTGGTGATGTCTTTTTCCATT	0.463																																					GBM(22;431 510 9010 26644 32828)	uc003oza.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1156-1158)TCT>TAT		G-protein coupled receptor 115 precursor							146.0	114.0	125.0					6																	47682138		2203	4300	6503	SO:0001583	missense	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47682138C>A	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1157C>A	6.37:g.47682138C>A	ENSP00000283303:p.Ser386Tyr					GPR115_uc003oyz.1_Missense_Mutation_p.S443Y|GPR115_uc003ozb.1_Missense_Mutation_p.S384Y	p.S386Y	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN			6	1415	+			386			GPS.|Extracellular (Potential).		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	c.1157C>A	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978067	0.74360	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.71461	-0.57;-0.57;-0.57	5.26	5.26	0.73747	GPS domain (2);	0.176539	0.41097	D	0.000953	T	0.81508	0.4837	M	0.70275	2.135	0.47949	D	0.999554	D	0.89917	1.0	D	0.87578	0.998	T	0.83186	-0.0086	10	0.87932	D	0	-14.3527	18.2275	0.89923	0.0:1.0:0.0:0.0	.	386	Q8IZF3	GP115_HUMAN	Y	443;386;386	ENSP00000360264:S443Y;ENSP00000328319:S386Y;ENSP00000283303:S386Y	ENSP00000283303:S386Y	S	+	2	0	GPR115	47790097	1.000000	0.71417	0.992000	0.48379	0.749000	0.42624	7.791000	0.85805	2.619000	0.88677	0.655000	0.94253	TCT		PASS	0.463	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		13	45	13	45	---	---	---	---
CRISP1	167	broad.mit.edu	37	6	49803029	49803029	+	Nonstop_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:49803029C>A	ENST00000335847.4	-	8	851	c.750G>T	c.(748-750)taG>taT	p.*250Y	CRISP1_ENST00000329411.5_3'UTR|CRISP1_ENST00000355791.2_Nonstop_Mutation_p.*250Y|CRISP1_ENST00000507853.1_3'UTR|CRISP1_ENST00000536021.1_3'UTR|CRISP1_ENST00000505118.1_Nonstop_Mutation_p.*250Y	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	0					binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)	p.*250Y(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					TAACAAAGACCTATTTTATCT	0.393																																						uc003ozw.2																			1	Nonstop extension(1)		lung(1)		0						c.(748-750)TAG>TAT		acidic epididymal glycoprotein-like 1 isoform 1							178.0	167.0	171.0					6																	49803029		2203	4300	6503	SO:0001578	stop_lost	167				fusion of sperm to egg plasma membrane	extracellular space		g.chr6:49803029C>A	D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812			304	protein-coding gene	gene with protein product		601193	"""acidic epididymal glycoprotein-like 1"""	AEGL1		8838800	Standard	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.750G>T	6.37:g.49803029C>A						CRISP1_uc003ozx.2_3'UTR	p.*250Y	NM_001131	NP_001122	P54107	CRIS1_HUMAN			8	829	-	Lung NSC(77;0.0358)		250					B5BU98|O00698|Q13248|Q14082|Q96SF6	Nonstop_Mutation	SNP	ENST00000335847.4	37	c.750G>T	CCDS4931.1	.	.	.	.	.	.	.	.	.	.	C	6.510	0.462359	0.12342	.	.	ENSG00000124812	ENST00000335847;ENST00000355791;ENST00000505118	.	.	.	5.12	-3.81	0.04294	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1324	0.53950	0.0:0.6475:0.0:0.3525	.	.	.	.	Y	250	.	.	X	-	3	2	CRISP1	49910988	0.013000	0.17824	0.011000	0.14972	0.303000	0.27691	-0.467000	0.06664	-0.573000	0.05998	-0.345000	0.07892	TAG		PASS	0.393	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040875.2	NM_001131		6	124	6	124	---	---	---	---
MLIP	90523	broad.mit.edu	37	6	54095515	54095515	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:54095515G>T	ENST00000274897.5	+	11	1230	c.1117G>T	c.(1117-1119)Gta>Tta	p.V373L	MLIP_ENST00000358276.5_Intron|MLIP_ENST00000502396.1_Missense_Mutation_p.V908L|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000370876.2_Intron	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	373						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)		p.V373L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CCACCAGGATGTAACAGTCCC	0.458																																						uc003pcg.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1117-1119)GTA>TTA		hypothetical protein LOC90523							284.0	273.0	277.0					6																	54095515		2203	4300	6503	SO:0001583	missense	90523					nuclear envelope|PML body	protein binding	g.chr6:54095515G>T	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.1117G>T	6.37:g.54095515G>T	ENSP00000274897:p.Val373Leu					C6orf142_uc003pch.3_Intron|C6orf142_uc011dxa.1_Missense_Mutation_p.V908L	p.V373L	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN			11	1230	+	Lung NSC(77;0.0317)		373					B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	ENST00000274897.5	37	c.1117G>T	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812570	0.32053	.	.	ENSG00000146147	ENST00000274897;ENST00000502396;ENST00000514433	T;T;T	0.25912	2.12;1.77;1.81	5.2	3.41	0.39046	.	0.382643	0.20296	N	0.095125	T	0.07458	0.0188	L	0.40543	1.245	0.80722	D	1	B;B	0.23249	0.003;0.082	B;B	0.23018	0.007;0.043	T	0.11717	-1.0576	10	0.17369	T	0.5	.	7.723	0.28744	0.1973:0.0:0.8027:0.0	.	908;373	Q5VWP3-3;Q5VWP3	.;MLIP_HUMAN	L	373;908;302	ENSP00000274897:V373L;ENSP00000426290:V908L;ENSP00000421444:V302L	ENSP00000274897:V373L	V	+	1	0	MLIP	54203474	0.001000	0.12720	0.978000	0.43139	0.702000	0.40608	0.616000	0.24344	0.674000	0.31244	-0.143000	0.13931	GTA		PASS	0.458	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		53	181	53	181	---	---	---	---
BMP5	653	broad.mit.edu	37	6	55739374	55739374	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:55739374G>T	ENST00000370830.3	-	1	988	c.290C>A	c.(289-291)tCg>tAg	p.S97*	BMP5_ENST00000446683.2_Nonsense_Mutation_p.S97*	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	97					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)	p.S97*(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGAGTACTCCGACTCTTCAGG	0.493																																						uc003pcq.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(289-291)TCG>TAG		bone morphogenetic protein 5 preproprotein							143.0	132.0	135.0					6																	55739374		2203	4300	6503	SO:0001587	stop_gained	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55739374G>T		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.290C>A	6.37:g.55739374G>T	ENSP00000359866:p.Ser97*					BMP5_uc011dxf.1_Nonsense_Mutation_p.S97*	p.S97*	NM_021073	NP_066551	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		1	1002	-	Lung NSC(77;0.0462)		97					B4E0Y4|Q9H547|Q9NTM5	Nonsense_Mutation	SNP	ENST00000370830.3	37	c.290C>A	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	G	42	9.168115	0.99087	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	.	.	.	5.82	2.65	0.31530	.	0.850198	0.10241	N	0.698370	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	2.7265	0.05215	0.3809:0.2451:0.374:0.0	.	.	.	.	X	97	.	ENSP00000359866:S97X	S	-	2	0	BMP5	55847333	0.808000	0.29022	0.004000	0.12327	0.919000	0.55068	3.567000	0.53813	0.777000	0.33496	0.650000	0.86243	TCG		PASS	0.493	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			30	73	30	73	---	---	---	---
ZNF451	26036	broad.mit.edu	37	6	57012894	57012894	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:57012894C>A	ENST00000370706.4	+	10	2255	c.2011C>A	c.(2011-2013)Ctt>Att	p.L671I	RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.L671I|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.L671I|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	671					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.L671I(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CTTCTGTGGGCTTTGTGATCT	0.368																																						uc003pdm.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(2011-2013)CTT>ATT		zinc finger protein 451 isoform 1							63.0	66.0	65.0					6																	57012894		2202	4299	6501	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57012894C>A	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.2011C>A	6.37:g.57012894C>A	ENSP00000359740:p.Leu671Ile					ZNF451_uc003pdl.2_Missense_Mutation_p.L671I|ZNF451_uc003pdn.1_Missense_Mutation_p.L671I|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.L671I	p.L671I	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		10	2235	+	Lung NSC(77;0.145)		671			C2H2-type 9.		Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.2011C>A	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.792859	0.50102	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.19806	2.15;2.12;2.13	5.4	5.4	0.78164	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.23806	0.0576	M	0.74258	2.255	0.80722	D	1	P;P;P;P	0.48230	0.886;0.818;0.907;0.818	P;P;P;P	0.49252	0.59;0.462;0.604;0.462	T	0.01090	-1.1455	10	0.30078	T	0.28	-20.7615	15.1784	0.72934	0.1416:0.8584:0.0:0.0	.	671;671;671;671	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	I	671	ENSP00000359740:L671I;ENSP00000350083:L671I;ENSP00000421645:L671I	ENSP00000350083:L671I	L	+	1	0	ZNF451	57120853	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.211000	0.58507	2.691000	0.91804	0.557000	0.71058	CTT		PASS	0.368	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		10	53	10	53	---	---	---	---
ZNF451	26036	broad.mit.edu	37	6	57012976	57012976	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:57012976C>G	ENST00000370706.4	+	10	2337	c.2093C>G	c.(2092-2094)tCa>tGa	p.S698*	RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|ZNF451_ENST00000357489.3_Nonsense_Mutation_p.S698*|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000491832.2_Nonsense_Mutation_p.S698*|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	698					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.S698*(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GTATTTGTGTCAGAAAAAACT	0.353																																						uc003pdm.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(2092-2094)TCA>TGA		zinc finger protein 451 isoform 1							38.0	38.0	38.0					6																	57012976		2203	4299	6502	SO:0001587	stop_gained	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57012976C>G	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.2093C>G	6.37:g.57012976C>G	ENSP00000359740:p.Ser698*					ZNF451_uc003pdl.2_Nonsense_Mutation_p.S698*|ZNF451_uc003pdn.1_Nonsense_Mutation_p.S698*|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Nonsense_Mutation_p.S698*	p.S698*	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		10	2317	+	Lung NSC(77;0.145)		698					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Nonsense_Mutation	SNP	ENST00000370706.4	37	c.2093C>G	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	C	39	7.348746	0.98228	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	.	.	.	5.4	5.4	0.78164	.	0.309409	0.27961	N	0.017144	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-2.6817	19.5382	0.95264	0.0:1.0:0.0:0.0	.	.	.	.	X	698	.	ENSP00000350083:S698X	S	+	2	0	ZNF451	57120935	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.484000	0.60271	2.691000	0.91804	0.557000	0.71058	TCA		PASS	0.353	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		5	31	5	31	---	---	---	---
COL19A1	1310	broad.mit.edu	37	6	70847580	70847580	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:70847580G>A	ENST00000322773.4	+	19	1489	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	COL19A1_ENST00000393344.1_Missense_Mutation_p.E85K	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	463	Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.E463K(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TTGAAAGGGTGAAACTGGACT	0.408																																						uc003pfc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(1387-1389)GAA>AAA		alpha 1 type XIX collagen precursor							179.0	174.0	176.0					6																	70847580		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70847580G>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1387G>A	6.37:g.70847580G>A	ENSP00000316030:p.Glu463Lys					COL19A1_uc010kam.1_Missense_Mutation_p.E359K	p.E463K	NM_001858	NP_001849	Q14993	COJA1_HUMAN			19	1504	+			463			Triple-helical region 3 (COL3).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.1387G>A	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803469	0.31869	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.92647	-3.08;-3.08	5.23	3.45	0.39498	.	0.491400	0.21380	N	0.075498	T	0.73806	0.3634	L	0.41492	1.28	0.29892	N	0.825143	B	0.10296	0.003	B	0.11329	0.006	T	0.57051	-0.7877	10	0.08837	T	0.75	.	8.284	0.31917	0.18:0.0:0.82:0.0	.	463	Q14993	COJA1_HUMAN	K	463;85	ENSP00000316030:E463K;ENSP00000377013:E85K	ENSP00000316030:E463K	E	+	1	0	COL19A1	70904301	1.000000	0.71417	0.991000	0.47740	0.908000	0.53690	2.663000	0.46774	0.895000	0.36342	0.655000	0.94253	GAA		PASS	0.408	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			46	119	46	119	---	---	---	---
IMPG1	3617	broad.mit.edu	37	6	76728524	76728524	+	Missense_Mutation	SNP	C	C	A	rs139136879	byFrequency	TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:76728524C>A	ENST00000369950.3	-	7	907	c.718G>T	c.(718-720)Gtc>Ttc	p.V240F	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.V240F(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				ACCAGAGAGACGCTGAGCTCC	0.463																																					Pancreas(37;839 1141 2599 26037)	uc003pik.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(718-720)GTC>TTC		interphotoreceptor matrix proteoglycan 1							108.0	100.0	103.0					6																	76728524		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76728524C>A	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.718G>T	6.37:g.76728524C>A	ENSP00000358966:p.Val240Phe						p.V240F	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			7	848	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	240			SEA 1.			Missense_Mutation	SNP	ENST00000369950.3	37	c.718G>T	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440295	0.43326	.	.	ENSG00000112706	ENST00000369950	T	0.16324	2.35	6.07	-1.94	0.07571	SEA (3);	0.385935	0.24813	N	0.035385	T	0.11024	0.0269	L	0.34521	1.04	0.80722	D	1	P	0.38992	0.653	P	0.55345	0.774	T	0.20840	-1.0263	10	0.72032	D	0.01	.	6.5056	0.22194	0.0:0.4109:0.1381:0.451	.	240	Q17R60	IMPG1_HUMAN	F	240	ENSP00000358966:V240F	ENSP00000358966:V240F	V	-	1	0	IMPG1	76785244	0.517000	0.26226	0.975000	0.42487	0.009000	0.06853	0.006000	0.13152	-0.077000	0.12752	-1.152000	0.01820	GTC		PASS	0.463	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		17	49	17	49	---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83839921	83839921	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:83839921G>C	ENST00000349129.2	+	17	2681	c.2421G>C	c.(2419-2421)caG>caC	p.Q807H	DOPEY1_ENST00000237163.5_Missense_Mutation_p.Q788H|DOPEY1_ENST00000369739.3_Missense_Mutation_p.Q798H	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	807					protein transport (GO:0015031)			p.Q807H(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCAGTGTTCAGAGTGTTGCTA	0.493																																						uc003pjs.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(2419-2421)CAG>CAC		dopey family member 1							137.0	131.0	133.0					6																	83839921		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83839921G>C	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.2421G>C	6.37:g.83839921G>C	ENSP00000195654:p.Gln807His					DOPEY1_uc011dyy.1_Missense_Mutation_p.Q798H|DOPEY1_uc010kbl.1_Missense_Mutation_p.Q798H	p.Q807H	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	17	2681	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	807					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.2421G>C	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584765	0.65992	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.29917	1.55;1.57	5.72	3.62	0.41486	.	0.000000	0.85682	D	0.000000	T	0.44912	0.1316	M	0.78049	2.395	0.80722	D	1	D;D;D	0.69078	0.995;0.997;0.997	D;D;D	0.77557	0.983;0.99;0.99	T	0.52238	-0.8602	10	0.87932	D	0	.	11.7873	0.52049	0.2373:0.0:0.7627:0.0	.	698;798;807	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	H	807;788;788	ENSP00000195654:Q807H;ENSP00000237163:Q788H	ENSP00000237163:Q788H	Q	+	3	2	DOPEY1	83896640	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.431000	0.52814	1.428000	0.47296	0.467000	0.42956	CAG		PASS	0.493	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		14	37	14	37	---	---	---	---
SNAP91	9892	broad.mit.edu	37	6	84417613	84417613	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:84417613C>A	ENST00000439399.2	-	2	350	c.34G>T	c.(34-36)Gcc>Tcc	p.A12S	SNAP91_ENST00000521743.1_Missense_Mutation_p.A12S|SNAP91_ENST00000437520.1_Missense_Mutation_p.A12S|SNAP91_ENST00000428679.2_Missense_Mutation_p.A12S|SNAP91_ENST00000195649.6_Missense_Mutation_p.A12S|SNAP91_ENST00000520213.1_Missense_Mutation_p.A12S|SNAP91_ENST00000520302.1_Missense_Mutation_p.A12S|SNAP91_ENST00000521485.1_Missense_Mutation_p.A12S|SNAP91_ENST00000369694.2_Missense_Mutation_p.A12S	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	12					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)	p.A12S(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TACTGAGCGGCGGCGATCCGA	0.562																																						uc011dze.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(34-36)GCC>TCC		synaptosomal-associated protein, 91kDa homolog							64.0	71.0	69.0					6																	84417613		2007	4181	6188	SO:0001583	missense	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84417613C>A	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.34G>T	6.37:g.84417613C>A	ENSP00000400459:p.Ala12Ser					SNAP91_uc003pkb.2_5'UTR|SNAP91_uc003pkc.2_Missense_Mutation_p.A12S|SNAP91_uc003pkd.2_Missense_Mutation_p.A12S|SNAP91_uc003pka.2_Missense_Mutation_p.A12S|SNAP91_uc011dzf.1_5'UTR	p.A12S	NM_014841	NP_055656	O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	2	351	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	12					A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	c.34G>T	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873155	0.91664	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000521931;ENST00000519779;ENST00000518309;ENST00000369690;ENST00000523484;ENST00000519825	T;T;T;T;T;T;T;T;T;T	0.37235	2.05;2.04;2.04;2.05;2.04;2.24;2.04;2.04;2.24;1.21	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.59238	0.2179	M	0.81497	2.545	0.80722	D	1	P;P;P	0.48162	0.905;0.906;0.906	D;D;D	0.73380	0.98;0.956;0.956	T	0.63580	-0.6605	10	0.87932	D	0	-7.3999	19.0968	0.93255	0.0:1.0:0.0:0.0	.	12;12;12	O60641-3;E5RI02;E1P549	.;.;.	S	12	ENSP00000429776:A12S;ENSP00000358708:A12S;ENSP00000400459:A12S;ENSP00000195649:A12S;ENSP00000412492:A12S;ENSP00000413277:A12S;ENSP00000428511:A12S;ENSP00000428215:A12S;ENSP00000428026:A12S;ENSP00000430071:A12S	ENSP00000195649:A12S	A	-	1	0	SNAP91	84474332	1.000000	0.71417	0.992000	0.48379	0.977000	0.68977	7.818000	0.86416	2.516000	0.84829	0.462000	0.41574	GCC		PASS	0.562	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			9	26	9	26	---	---	---	---
TBX18	9096	broad.mit.edu	37	6	85472385	85472385	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:85472385G>A	ENST00000369663.5	-	2	711	c.374C>T	c.(373-375)tCc>tTc	p.S125F	TBX18_ENST00000606784.1_5'UTR|TBX18_ENST00000606521.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	125					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.S125F(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CCGGGCCAGGGAGCGCGCCGG	0.701																																						uc003pkl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|lung(1)	5						c.(373-375)TCC>TTC		T-box 18							21.0	26.0	25.0					6																	85472385		2188	4287	6475	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85472385G>A	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.374C>T	6.37:g.85472385G>A	ENSP00000358677:p.Ser125Phe					TBX18_uc010kbq.1_5'UTR	p.S125F	NM_001080508	NP_001073977	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	2	374	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	125					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.374C>T	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304346	0.23736	.	.	ENSG00000112837	ENST00000416980;ENST00000369663	D	0.87256	-2.23	5.74	2.96	0.34315	.	0.531595	0.20658	N	0.088070	T	0.56016	0.1957	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.53816	-0.8385	10	0.56958	D	0.05	.	8.2381	0.31638	0.1465:0.3811:0.4724:0.0	.	125	O95935	TBX18_HUMAN	F	40;125	ENSP00000358677:S125F	ENSP00000358677:S125F	S	-	2	0	TBX18	85529104	0.475000	0.25894	0.073000	0.20177	0.055000	0.15305	1.712000	0.37940	0.758000	0.33059	0.561000	0.74099	TCC		PASS	0.701	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		7	26	7	26	---	---	---	---
RRAGD	58528	broad.mit.edu	37	6	90097269	90097269	+	Silent	SNP	C	C	A	rs142842793		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:90097269C>A	ENST00000369415.4	-	2	465	c.189G>T	c.(187-189)ccG>ccT	p.P63P	RRAGD_ENST00000359203.3_Intron|RRAGD_ENST00000492783.1_5'UTR	NM_021244.4	NP_067067.1			Ras-related GTP binding D									p.P63P(2)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		GCAGGATTCTCGGCTTCACTT	0.463																																						uc003pnd.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(187-189)CCG>CCT		Ras-related GTP binding D							220.0	237.0	231.0					6																	90097269		2203	4300	6503	SO:0001819	synonymous_variant	58528				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity	g.chr6:90097269C>A	AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039			19903	protein-coding gene	gene with protein product		608268				11073942	Standard	NM_021244		Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200	ENST00000369415.4:c.189G>T	6.37:g.90097269C>A						RRAGD_uc010kcc.2_Intron	p.P63P	NM_021244	NP_067067	Q9NQL2	RRAGD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0144)	2	472	-		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)	63						Silent	SNP	ENST00000369415.4	37	c.189G>T	CCDS5022.1																																																																																				PASS	0.463	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041484.1	NM_021244		73	224	73	224	---	---	---	---
FUT9	10690	broad.mit.edu	37	6	96651208	96651208	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:96651208T>G	ENST00000302103.5	+	3	503	c.177T>G	c.(175-177)gaT>gaG	p.D59E		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	59					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.D59E(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CCAAAACTGATTATTTTAATG	0.418																																					Melanoma(98;1369 1476 6592 22940 26587)	uc003pop.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)	5						c.(175-177)GAT>GAG		fucosyltransferase 9 (alpha (1,3)							109.0	101.0	104.0					6																	96651208		2203	4300	6503	SO:0001583	missense	10690				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr6:96651208T>G	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.177T>G	6.37:g.96651208T>G	ENSP00000302599:p.Asp59Glu						p.D59E	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	3	518	+		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)	59			Lumenal (Potential).		Q5T0W4	Missense_Mutation	SNP	ENST00000302103.5	37	c.177T>G	CCDS5033.1	.	.	.	.	.	.	.	.	.	.	T	5.789	0.329938	0.10956	.	.	ENSG00000172461	ENST00000302103	T	0.24151	1.87	5.17	1.43	0.22495	.	0.256920	0.43919	D	0.000509	T	0.07234	0.0183	L	0.59912	1.85	0.42153	D	0.99156	B	0.13594	0.008	B	0.17433	0.018	T	0.35549	-0.9784	10	0.02654	T	1	-7.7672	8.6653	0.34116	0.0:0.2253:0.0:0.7747	.	59	Q9Y231	FUT9_HUMAN	E	59	ENSP00000302599:D59E	ENSP00000302599:D59E	D	+	3	2	FUT9	96757929	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	0.632000	0.24583	0.363000	0.24346	-0.264000	0.10439	GAT		PASS	0.418	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581		15	35	15	35	---	---	---	---
MCHR2	84539	broad.mit.edu	37	6	100403844	100403844	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:100403844T>C	ENST00000281806.2	-	2	494	c.180A>G	c.(178-180)atA>atG	p.I60M	MCHR2_ENST00000369212.2_Missense_Mutation_p.I60M	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I60M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTCCTTACCTTATTATAGTGA	0.403																																						uc003pqh.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8						c.(178-180)ATA>ATG		melanin-concentrating hormone receptor 2							65.0	62.0	63.0					6																	100403844		2203	4300	6503	SO:0001583	missense	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100403844T>C	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.180A>G	6.37:g.100403844T>C	ENSP00000281806:p.Ile60Met					MCHR2_uc003pqi.1_Missense_Mutation_p.I60M	p.I60M	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	2	495	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	60			Helical; Name=1; (Potential).		B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	c.180A>G	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	T	12.35	1.913100	0.33815	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.38560	1.13;1.13;1.13	4.86	0.894	0.19242	GPCR, rhodopsin-like superfamily (1);	0.174828	0.36519	N	0.002554	T	0.17831	0.0428	M	0.72479	2.2	0.28739	N	0.90209	B	0.15473	0.013	B	0.19946	0.027	T	0.20874	-1.0262	10	0.33940	T	0.23	.	5.6626	0.17676	0.2933:0.0:0.1525:0.5543	.	60	Q969V1	MCHR2_HUMAN	M	60	ENSP00000403490:I60M;ENSP00000281806:I60M;ENSP00000358214:I60M	ENSP00000281806:I60M	I	-	3	3	MCHR2	100510565	1.000000	0.71417	0.983000	0.44433	0.908000	0.53690	0.761000	0.26489	-0.032000	0.13758	0.459000	0.35465	ATA		PASS	0.403	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		4	24	4	24	---	---	---	---
QRSL1	55278	broad.mit.edu	37	6	107103556	107103556	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:107103556A>G	ENST00000369046.4	+	9	1213	c.1109A>G	c.(1108-1110)aAt>aGt	p.N370S		NM_018292.4	NP_060762.3			glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1									p.N370S(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		GAAGGGTTTAATGATGTGGTG	0.363																																					NSCLC(192;2127 2142 11668 26277 49545)	uc003prm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1108-1110)AAT>AGT		glutaminyl-tRNA synthase							109.0	107.0	108.0					6																	107103556		2203	4300	6503	SO:0001583	missense	55278				translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor	g.chr6:107103556A>G	AK001851	CCDS5057.1	6q21	2014-08-04			ENSG00000130348	ENSG00000130348			21020	protein-coding gene	gene with protein product	"""glutamyl-tRNA(Gln) amidotransferase, subunit A"""					11230166, 19805282	Standard	NM_018292		Approved	GatA, FLJ10989, FLJ12189, DKFZP564C1278, FLJ13447	uc003prm.3	Q9H0R6	OTTHUMG00000015301	ENST00000369046.4:c.1109A>G	6.37:g.107103556A>G	ENSP00000358042:p.Asn370Ser						p.N370S	NM_018292	NP_060762	Q9H0R6	QRSL1_HUMAN	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)	9	1225	+	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	370						Missense_Mutation	SNP	ENST00000369046.4	37	c.1109A>G	CCDS5057.1	.	.	.	.	.	.	.	.	.	.	A	13.20	2.167126	0.38217	.	.	ENSG00000130348	ENST00000369046	T	0.52057	0.68	5.46	4.3	0.51218	.	0.041727	0.85682	D	0.000000	T	0.30448	0.0765	L	0.56769	1.78	0.80722	D	1	B	0.12630	0.006	B	0.28305	0.088	T	0.26395	-1.0104	10	0.72032	D	0.01	-26.3135	9.9997	0.41920	0.8583:0.0:0.1417:0.0	.	370	Q9H0R6	GATA_HUMAN	S	370	ENSP00000358042:N370S	ENSP00000358042:N370S	N	+	2	0	QRSL1	107210249	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	5.839000	0.69395	0.913000	0.36797	-0.379000	0.06801	AAT		PASS	0.363	QRSL1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041667.1	NM_018292		12	50	12	50	---	---	---	---
PDSS2	57107	broad.mit.edu	37	6	107475972	107475972	+	Nonsense_Mutation	SNP	T	T	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:107475972T>A	ENST00000369037.4	-	8	1328	c.1051A>T	c.(1051-1053)Aga>Tga	p.R351*	PDSS2_ENST00000453874.2_Nonsense_Mutation_p.R249*	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	351					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|regulation of body fluid levels (GO:0050878)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)	p.R351*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		GCTTTGATTCTTTCTCGCAAC	0.453																																						uc003prt.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(1051-1053)AGA>TGA		prenyl diphosphate synthase, subunit 2							58.0	54.0	56.0					6																	107475972		2203	4300	6503	SO:0001587	stop_gained	57107				isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity	g.chr6:107475972T>A	AF254956	CCDS5059.1	6q21	2006-02-14	2006-02-14	2006-02-14	ENSG00000164494	ENSG00000164494			23041	protein-coding gene	gene with protein product		610564	"""chromosome 6 open reading frame 210"""	C6orf210		16262699	Standard	NM_020381		Approved	bA59I9.3	uc003prt.2	Q86YH6	OTTHUMG00000059359	ENST00000369037.4:c.1051A>T	6.37:g.107475972T>A	ENSP00000358033:p.Arg351*					PDSS2_uc011eak.1_Nonsense_Mutation_p.R215*|PDSS2_uc011eal.1_Nonsense_Mutation_p.R249*	p.R351*	NM_020381	NP_065114	Q86YH6	DLP1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)	8	1341	-	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	351					Q33DR4|Q4G158|Q5VU38|Q5VU39|Q9NR58	Nonsense_Mutation	SNP	ENST00000369037.4	37	c.1051A>T	CCDS5059.1	.	.	.	.	.	.	.	.	.	.	T	36	5.891694	0.97074	.	.	ENSG00000164494	ENST00000369037;ENST00000453874	.	.	.	5.53	3.19	0.36642	.	0.320592	0.36893	N	0.002344	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	4.5592	0.12152	0.0:0.471:0.0:0.529	.	.	.	.	X	351;249	.	ENSP00000358033:R351X	R	-	1	2	PDSS2	107582665	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.859000	0.48364	0.939000	0.37446	0.533000	0.62120	AGA		PASS	0.453	PDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131954.1	NM_020381		6	36	6	36	---	---	---	---
CEP57L1	285753	broad.mit.edu	37	6	109484003	109484003	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:109484003G>T	ENST00000517392.1	+	11	1639	c.1213G>T	c.(1213-1215)Ggt>Tgt	p.G405C	CEP57L1_ENST00000521522.1_Missense_Mutation_p.G352C|CEP57L1_ENST00000407272.1_Missense_Mutation_p.G405C|CEP57L1_ENST00000523787.1_Missense_Mutation_p.G408C|CEP57L1_ENST00000336977.4_Missense_Mutation_p.G305C|CEP57L1_ENST00000368968.2_3'UTR|CEP57L1_ENST00000359793.3_Missense_Mutation_p.G405C|CEP57L1_ENST00000368970.2_Missense_Mutation_p.G422C|CEP57L1_ENST00000520883.1_Missense_Mutation_p.G305C	NM_001271852.1|NM_001271853.1	NP_001258781.1|NP_001258782.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	405					microtubule anchoring (GO:0034453)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.G405C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						TGAAGCTTCAGGTATTCAGCA	0.333																																						uc010kdk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1213-1215)GGT>TGT		hypothetical protein LOC285753							61.0	61.0	61.0					6																	109484003		2203	4300	6503	SO:0001583	missense	285753					microtubule|microtubule organizing center		g.chr6:109484003G>T	AK092723	CCDS5071.1, CCDS64491.1	6q21	2014-01-28	2010-09-30	2010-09-30	ENSG00000183137	ENSG00000183137			21561	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 182"""	C6orf182			Standard	NM_001083535		Approved	bA487F23.2, MGC21731	uc003psy.4	Q8IYX8	OTTHUMG00000015336	ENST00000517392.1:c.1213G>T	6.37:g.109484003G>T	ENSP00000427844:p.Gly405Cys					C6orf182_uc003psx.3_3'UTR|C6orf182_uc010kdl.2_Missense_Mutation_p.G405C|C6orf182_uc003psy.3_Missense_Mutation_p.G405C	p.G405C	NM_001083535	NP_001077004	Q8IYX8	CE57L_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00123)|Epithelial(106;0.0022)|all cancers(137;0.00405)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)	13	1790	+		all_cancers(87;4.45e-07)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(75;3.25e-08)|all_epithelial(87;0.000254)|Colorectal(196;0.0293)|all_lung(197;0.11)	405					G5E992	Missense_Mutation	SNP	ENST00000517392.1	37	c.1213G>T	CCDS5071.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.427353	0.25726	.	.	ENSG00000183137	ENST00000517392;ENST00000407272;ENST00000336977;ENST00000521522;ENST00000368970;ENST00000520883;ENST00000523787;ENST00000359793	T;T;T;T;T;T;T;T	0.45276	0.91;0.91;0.9;0.9;0.9;0.9;0.91;0.91	5.57	3.73	0.42828	.	1.275200	0.04991	N	0.467399	T	0.18002	0.0432	L	0.43152	1.355	0.09310	N	0.999997	B	0.09022	0.002	B	0.09377	0.004	T	0.22068	-1.0227	10	0.52906	T	0.07	2.2679	6.0147	0.19596	0.1397:0.0:0.6859:0.1744	.	405	Q8IYX8	CE57L_HUMAN	C	405;405;305;352;422;305;408;405	ENSP00000427844:G405C;ENSP00000383936:G405C;ENSP00000337392:G305C;ENSP00000428344:G352C;ENSP00000357966:G422C;ENSP00000430011:G305C;ENSP00000430529:G408C;ENSP00000352841:G405C	ENSP00000337392:G305C	G	+	1	0	CEP57L1	109590696	0.000000	0.05858	0.976000	0.42696	0.750000	0.42670	0.610000	0.24253	1.437000	0.47472	0.591000	0.81541	GGT		PASS	0.333	CEP57L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041734.4	NM_173830		5	71	5	71	---	---	---	---
CDK19	23097	broad.mit.edu	37	6	110953347	110953347	+	Nonsense_Mutation	SNP	T	T	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:110953347T>A	ENST00000368911.3	-	6	711	c.532A>T	c.(532-534)Aga>Tga	p.R178*	CDK19_ENST00000413605.2_Nonsense_Mutation_p.R54*|CDK19_ENST00000323817.3_Nonsense_Mutation_p.R118*	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	178	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.R178*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						TTGAATAATCTGGCAAAACCC	0.353																																						uc003puh.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(532-534)AGA>TGA		cell division cycle 2-like 6 (CDK8-like)							61.0	60.0	60.0					6																	110953347		2203	4300	6503	SO:0001587	stop_gained	23097						ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr6:110953347T>A	AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.532A>T	6.37:g.110953347T>A	ENSP00000357907:p.Arg178*					CDK19_uc003pui.1_Nonsense_Mutation_p.R118*|CDK19_uc011eax.1_Nonsense_Mutation_p.R54*	p.R178*	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN			6	605	-			178			Protein kinase.		Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Nonsense_Mutation	SNP	ENST00000368911.3	37	c.532A>T	CCDS5085.1	.	.	.	.	.	.	.	.	.	.	T	33	5.259881	0.95368	.	.	ENSG00000155111	ENST00000368911;ENST00000323817;ENST00000392576;ENST00000413605;ENST00000457688	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.1023	15.2378	0.73443	0.0:0.0:0.0:1.0	.	.	.	.	X	178;118;117;54;118	.	ENSP00000317665:R118X	R	-	1	2	CDK19	111060040	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.975000	0.49281	2.003000	0.58678	0.528000	0.53228	AGA		PASS	0.353	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041804.1	NM_015076		11	27	11	27	---	---	---	---
LAMA4	3910	broad.mit.edu	37	6	112496574	112496574	+	Missense_Mutation	SNP	C	C	A	rs369658574		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:112496574C>A	ENST00000230538.7	-	11	1695	c.1298G>T	c.(1297-1299)cGt>cTt	p.R433L	LAMA4_ENST00000389463.4_Missense_Mutation_p.R426L|LAMA4_ENST00000522006.1_Missense_Mutation_p.R426L|LAMA4_ENST00000424408.2_Missense_Mutation_p.R426L	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	433	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.R426H(1)|p.R426L(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AAATGGTTGACGGCTTCTAAT	0.488																																						uc003pvu.2																			2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(1297-1299)CGT>CTT		laminin, alpha 4 isoform 1 precursor							167.0	162.0	164.0					6																	112496574		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112496574C>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1298G>T	6.37:g.112496574C>A	ENSP00000230538:p.Arg433Leu					LAMA4_uc003pvv.2_Missense_Mutation_p.R426L|LAMA4_uc003pvt.2_Missense_Mutation_p.R426L	p.R433L	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	11	1607	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	433			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.1298G>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	7.877	0.729500	0.15507	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	5.91	3.14	0.36123	Laminin I (1);	0.206570	0.42964	D	0.000640	T	0.06188	0.0160	L	0.40543	1.245	0.18873	N	0.999986	B;B	0.29835	0.258;0.218	B;B	0.30855	0.121;0.074	T	0.28073	-1.0055	10	0.39692	T	0.17	.	7.6433	0.28307	0.0:0.7203:0.1347:0.145	.	433;426	Q16363;Q16363-2	LAMA4_HUMAN;.	L	433;426;426;426	ENSP00000230538:R433L;ENSP00000429488:R426L;ENSP00000374114:R426L;ENSP00000416470:R426L	ENSP00000230538:R433L	R	-	2	0	LAMA4	112603267	0.965000	0.33210	0.011000	0.14972	0.008000	0.06430	3.022000	0.49659	0.390000	0.25115	-0.140000	0.14226	CGT		PASS	0.488	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		14	82	14	82	---	---	---	---
RSPO3	84870	broad.mit.edu	37	6	127517050	127517050	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:127517050A>C	ENST00000356698.4	+	5	1306	c.717A>C	c.(715-717)gaA>gaC	p.E239D	RSPO3_ENST00000368317.3_Missense_Mutation_p.E239D	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	239					branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)	extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.E239D(1)	PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		AAAGTCTGGAATCCAGCAAAG	0.388																																						uc003qar.2																			1	Substitution - Missense(1)		lung(1)		0						c.(715-717)GAA>GAC		R-spondin 3 precursor							122.0	124.0	123.0					6																	127517050		2203	4300	6503	SO:0001583	missense	84870					extracellular region	heparin binding	g.chr6:127517050A>C	BC022367	CCDS5135.1	6q22.33	2013-02-28	2011-06-29	2005-08-08	ENSG00000146374	ENSG00000146374		"""Endogenous ligands"""	20866	protein-coding gene	gene with protein product		610574	"""thrombospondin, type I, domain containing 2"", ""R-spondin 3 homolog (Xenopus laevis)"""	THSD2		10842357, 15469841	Standard	NM_032784		Approved	FLJ14440	uc003qar.3	Q9BXY4	OTTHUMG00000015521	ENST00000356698.4:c.717A>C	6.37:g.127517050A>C	ENSP00000349131:p.Glu239Asp					RSPO3_uc003qas.1_Missense_Mutation_p.E239D	p.E239D	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN		GBM - Glioblastoma multiforme(226;0.0555)	5	1007	+			239					B2RC27|Q5VTV4|Q96K87	Missense_Mutation	SNP	ENST00000356698.4	37	c.717A>C	CCDS5135.1	.	.	.	.	.	.	.	.	.	.	A	11.27	1.590453	0.28357	.	.	ENSG00000146374	ENST00000356698;ENST00000368317	T;T	0.79247	-1.25;-1.25	5.65	-2.46	0.06461	.	0.126265	0.51477	D	0.000090	T	0.30324	0.0761	N	0.11560	0.145	0.29162	N	0.877708	B;B	0.12630	0.006;0.001	B;B	0.13407	0.009;0.002	T	0.25745	-1.0123	10	0.23891	T	0.37	-38.0285	6.9468	0.24522	0.4122:0.0:0.4647:0.1232	.	239;239	Q9BXY4-2;Q9BXY4	.;RSPO3_HUMAN	D	239	ENSP00000349131:E239D;ENSP00000357300:E239D	ENSP00000349131:E239D	E	+	3	2	RSPO3	127558743	0.959000	0.32827	0.995000	0.50966	0.297000	0.27493	0.243000	0.18106	-0.107000	0.12088	0.383000	0.25322	GAA		PASS	0.388	RSPO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042111.1	NM_032784		9	58	9	58	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129785527	129785527	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:129785527C>G	ENST00000421865.2	+	50	7134	c.7085C>G	c.(7084-7086)tCc>tGc	p.S2362C		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2362	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.S2362C(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCCAACATCTCCACTGTCATG	0.463																																						uc003qbn.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.(7084-7086)TCC>TGC		laminin alpha 2 subunit isoform a precursor							301.0	238.0	259.0					6																	129785527		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129785527C>G	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7085C>G	6.37:g.129785527C>G	ENSP00000400365:p.Ser2362Cys					LAMA2_uc003qbo.2_Missense_Mutation_p.S2362C	p.S2362C	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	49	7190	+			2362			Laminin G-like 2.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.7085C>G	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.894805	0.91962	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.79940	-1.32	5.87	5.87	0.94306	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.099217	0.64402	D	0.000001	D	0.84880	0.5570	L	0.48642	1.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.82018	-0.0665	9	.	.	.	.	20.1922	0.98231	0.0:1.0:0.0:0.0	.	2363;2362	A6NF00;P24043	.;LAMA2_HUMAN	C	2362;2361;2362;380	ENSP00000400365:S2362C	.	S	+	2	0	LAMA2	129827220	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.394000	0.79862	2.767000	0.95098	0.655000	0.94253	TCC		PASS	0.463	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			22	94	22	94	---	---	---	---
TCF21	6943	broad.mit.edu	37	6	134210701	134210701	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:134210701C>A	ENST00000367882.4	+	1	426	c.166C>A	c.(166-168)Ctg>Atg	p.L56M	RP3-323P13.2_ENST00000606544.1_RNA|RP3-323P13.2_ENST00000607033.1_RNA|RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.L56M|RP3-323P13.2_ENST00000607641.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	56					branching involved in ureteric bud morphogenesis (GO:0001658)|branchiomeric skeletal muscle development (GO:0014707)|bronchiole development (GO:0060435)|diaphragm development (GO:0060539)|embryonic digestive tract morphogenesis (GO:0048557)|epithelial cell differentiation (GO:0030855)|gland development (GO:0048732)|glomerulus development (GO:0032835)|kidney development (GO:0001822)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|metanephric glomerular capillary formation (GO:0072277)|metanephric mesenchymal cell differentiation (GO:0072162)|morphogenesis of a branching structure (GO:0001763)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reproductive structure development (GO:0048608)|respiratory system development (GO:0060541)|Sertoli cell differentiation (GO:0060008)|sex determination (GO:0007530)|spleen development (GO:0048536)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|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)	p.L56M(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		CCGCGGCGGCCTGGGCAAGAG	0.632																																						uc003qei.3																			1	Substitution - Missense(1)		lung(1)		0						c.(166-168)CTG>ATG		transcription factor 21							29.0	38.0	35.0					6																	134210701		2203	4300	6503	SO:0001583	missense	6943				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:134210701C>A	AF047419	CCDS5167.1	6q23.2	2014-09-17			ENSG00000118526	ENSG00000118526		"""Basic helix-loop-helix proteins"""	11632	protein-coding gene	gene with protein product		603306				9507058	Standard	NM_198392		Approved	POD1, bHLHa23	uc003qei.4	O43680	OTTHUMG00000015608	ENST00000367882.4:c.166C>A	6.37:g.134210701C>A	ENSP00000356857:p.Leu56Met					uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.L56M	p.L56M	NM_003206	NP_003197	O43680	TCF21_HUMAN		GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)	1	442	+	Colorectal(23;0.221)|Breast(56;0.247)		56					E1P581|O43545|Q6ICV0|Q9BZ14	Missense_Mutation	SNP	ENST00000367882.4	37	c.166C>A	CCDS5167.1	.	.	.	.	.	.	.	.	.	.	C	7.944	0.743353	0.15642	.	.	ENSG00000118526	ENST00000367882;ENST00000237316	D;D	0.96396	-4.0;-4.0	4.64	3.54	0.40534	.	0.413589	0.24828	N	0.035276	T	0.81394	0.4813	N	0.08118	0	0.23581	N	0.997367	B	0.31519	0.327	B	0.25291	0.059	T	0.75396	-0.3332	10	0.46703	T	0.11	-9.3382	7.0948	0.25303	0.0:0.6733:0.1563:0.1704	.	56	O43680	TCF21_HUMAN	M	56	ENSP00000356857:L56M;ENSP00000237316:L56M	ENSP00000237316:L56M	L	+	1	2	TCF21	134252394	0.988000	0.35896	1.000000	0.80357	0.443000	0.32047	0.533000	0.23082	2.117000	0.64856	0.313000	0.20887	CTG		PASS	0.632	TCF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042292.1	NM_198392		4	25	4	25	---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144769802	144769802	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:144769802C>T	ENST00000367545.3	+	16	1969	c.1969C>T	c.(1969-1971)Cgt>Tgt	p.R657C		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	657	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.R657C(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GGAGACTGTTCGTGTAAGAGA	0.423																																						uc003qkt.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(1969-1971)CGT>TGT		utrophin							108.0	105.0	106.0					6																	144769802		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144769802C>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1969C>T	6.37:g.144769802C>T	ENSP00000356515:p.Arg657Cys					UTRN_uc010khq.1_Missense_Mutation_p.R657C	p.R657C	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	16	2061	+		Ovarian(120;0.218)	657			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.1969C>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.618161	0.46736	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.60040	0.22	5.86	3.99	0.46301	.	0.988412	0.08237	N	0.976680	T	0.19525	0.0469	N	0.08118	0	0.09310	N	0.999999	P	0.48911	0.917	B	0.40329	0.326	T	0.01152	-1.1435	10	0.56958	D	0.05	.	5.2458	0.15496	0.1283:0.6262:0.1247:0.1207	.	657	P46939	UTRO_HUMAN	C	657	ENSP00000356515:R657C	ENSP00000356499:R657C	R	+	1	0	UTRN	144811495	0.002000	0.14202	0.793000	0.32043	0.971000	0.66376	0.926000	0.28804	2.937000	0.99478	0.650000	0.86243	CGT		PASS	0.423	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			30	49	30	49	---	---	---	---
CCR6	1235	broad.mit.edu	37	6	167549917	167549917	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:167549917G>T	ENST00000341935.5	+	3	751	c.199G>T	c.(199-201)Gtg>Ttg	p.V67L	CCR6_ENST00000400926.2_Missense_Mutation_p.V67L|CCR6_ENST00000349984.4_Missense_Mutation_p.V67L|RP11-517H2.6_ENST00000609590.1_RNA	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	67					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)	p.V67L(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		GAATATTCTGGTGGTGATCAC	0.478																																						uc003qvl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(199-201)GTG>TTG		chemokine (C-C motif) receptor 6							179.0	177.0	178.0					6																	167549917		2203	4300	6503	SO:0001583	missense	1235				cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity	g.chr6:167549917G>T	U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.199G>T	6.37:g.167549917G>T	ENSP00000343952:p.Val67Leu					CCR6_uc010kkm.2_Missense_Mutation_p.V67L|CCR6_uc003qvn.3_Missense_Mutation_p.V67L|CCR6_uc003qvm.3_Missense_Mutation_p.V67L	p.V67L	NM_031409	NP_113597	P51684	CCR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)	13	2675	+		Breast(66;1.53e-05)|Ovarian(120;0.0606)	67			Helical; Name=1; (Potential).		E1P5C6|P78553|Q92846	Missense_Mutation	SNP	ENST00000341935.5	37	c.199G>T	CCDS5298.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047255	0.55110	.	.	ENSG00000112486	ENST00000400926;ENST00000341935;ENST00000349984	D;D;D	0.84070	-1.8;-1.8;-1.8	4.72	4.72	0.59763	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000011	D	0.90328	0.6974	M	0.83692	2.655	0.58432	D	0.999999	D	0.76494	0.999	D	0.87578	0.998	D	0.92056	0.5652	10	0.87932	D	0	.	16.6631	0.85246	0.0:0.0:1.0:0.0	.	67	P51684	CCR6_HUMAN	L	67	ENSP00000383715:V67L;ENSP00000343952:V67L;ENSP00000339393:V67L	ENSP00000343952:V67L	V	+	1	0	CCR6	167469907	1.000000	0.71417	0.998000	0.56505	0.096000	0.18686	7.084000	0.76866	2.152000	0.67230	0.561000	0.74099	GTG		PASS	0.478	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1			26	52	26	52	---	---	---	---
HDAC9	9734	broad.mit.edu	37	7	18631171	18631171	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr7:18631171C>A	ENST00000432645.2	+	4	439	c.439C>A	c.(439-441)Ctt>Att	p.L147I	HDAC9_ENST00000405010.3_Missense_Mutation_p.L147I|HDAC9_ENST00000428307.2_Missense_Mutation_p.L147I|HDAC9_ENST00000417496.2_Missense_Mutation_p.L189I|HDAC9_ENST00000441542.2_Missense_Mutation_p.L150I|HDAC9_ENST00000406451.4_Missense_Mutation_p.L147I|HDAC9_ENST00000524023.1_Missense_Mutation_p.L116I|HDAC9_ENST00000406072.1_Missense_Mutation_p.L178I|HDAC9_ENST00000456174.2_Missense_Mutation_p.L119I|HDAC9_ENST00000401921.1_Missense_Mutation_p.L150I	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	147	Interaction with MEF2. {ECO:0000250}.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.L150I(2)|p.L189I(1)|p.L147I(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AAAGCAGAAGCTTCAAGAGTT	0.448																																						uc003suh.2																			4	Substitution - Missense(4)		lung(4)	lung(2)|central_nervous_system(2)|kidney(1)	5						c.(439-441)CTT>ATT		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						55.0	57.0	56.0					7																	18631171		1959	4156	6115	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18631171C>A	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.439C>A	7.37:g.18631171C>A	ENSP00000410337:p.Leu147Ile					HDAC9_uc003sue.2_Missense_Mutation_p.L147I|HDAC9_uc011jyd.1_Missense_Mutation_p.L147I|HDAC9_uc003sui.2_Missense_Mutation_p.L150I|HDAC9_uc003suj.2_Missense_Mutation_p.L150I|HDAC9_uc011jya.1_Missense_Mutation_p.L188I|HDAC9_uc003sua.1_Missense_Mutation_p.L169I|HDAC9_uc011jyb.1_Missense_Mutation_p.L147I|HDAC9_uc003sud.1_Missense_Mutation_p.L147I|HDAC9_uc011jyc.1_Missense_Mutation_p.L150I|HDAC9_uc003suf.1_Missense_Mutation_p.L178I|HDAC9_uc010kud.1_Missense_Mutation_p.L150I|HDAC9_uc011jye.1_Missense_Mutation_p.L119I|HDAC9_uc011jyf.1_Missense_Mutation_p.L116I|HDAC9_uc010kue.1_5'UTR	p.L147I	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			4	480	+	all_lung(11;0.187)		147			Interaction with MEF2 (By similarity).		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.439C>A	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	C	36	5.730267	0.96856	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;D;T;T;T;T	0.83914	-1.4;-1.01;-1.35;-1.27;-1.35;-1.78;-1.36;-1.35;-1.02;-1.22	5.74	5.74	0.90152	.	0.117737	0.38436	N	0.001683	D	0.91663	0.7365	M	0.78637	2.42	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.71674	0.993;0.997;0.998;0.998;0.993;0.993;0.998;0.998;0.998;0.997;0.998;0.998;0.997	D;D;D;D;D;D;D;D;D;D;D;D;D	0.85130	0.987;0.991;0.996;0.997;0.987;0.967;0.996;0.996;0.994;0.978;0.996;0.996;0.991	D	0.91623	0.5312	10	0.62326	D	0.03	-17.3055	19.9403	0.97159	0.0:1.0:0.0:0.0	.	116;119;147;178;189;150;150;150;147;119;147;147;169	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	I	189;192;147;147;147;178;150;147;150;119;116;147	ENSP00000401669:L189I;ENSP00000384382:L147I;ENSP00000384657:L147I;ENSP00000395655:L147I;ENSP00000384017:L178I;ENSP00000383912:L150I;ENSP00000410337:L147I;ENSP00000408617:L150I;ENSP00000388568:L119I;ENSP00000430036:L116I	ENSP00000262069:L192I	L	+	1	0	HDAC9	18597696	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.988000	0.70579	2.712000	0.92718	0.650000	0.86243	CTT		PASS	0.448	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			10	20	10	20	---	---	---	---
AMPH	273	broad.mit.edu	37	7	38471795	38471795	+	Silent	SNP	T	T	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr7:38471795T>C	ENST00000356264.2	-	13	1367	c.1152A>G	c.(1150-1152)ctA>ctG	p.L384L	AMPH_ENST00000325590.5_Silent_p.L384L|AMPH_ENST00000471913.1_5'Flank|AMPH_ENST00000428293.2_Silent_p.L384L	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	384					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.L384L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTACCGTCCATAGGTCCCAGG	0.318																																						uc003tgu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|liver(1)|skin(1)	5						c.(1150-1152)CTA>CTG		amphiphysin isoform 1							107.0	109.0	108.0					7																	38471795		2203	4300	6503	SO:0001819	synonymous_variant	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38471795T>C		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1152A>G	7.37:g.38471795T>C						AMPH_uc003tgv.2_Silent_p.L384L|AMPH_uc003tgt.2_Silent_p.L137L|AMPH_uc003tgw.1_5'Flank|AMPH_uc010kxl.1_5'Flank	p.L384L	NM_001635	NP_001626	P49418	AMPH_HUMAN			13	1221	-			384					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Silent	SNP	ENST00000356264.2	37	c.1152A>G	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	T	9.487	1.099633	0.20552	.	.	ENSG00000078053	ENST00000441628	.	.	.	5.55	-5.04	0.02964	.	.	.	.	.	T	0.39655	0.1086	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38499	-0.9658	4	.	.	.	-12.049	3.9531	0.09377	0.0944:0.4013:0.1916:0.3126	.	.	.	.	V	135	.	.	M	-	1	0	AMPH	38438320	0.776000	0.28616	0.948000	0.38648	0.988000	0.76386	-0.454000	0.06770	-0.821000	0.04312	-0.256000	0.11100	ATG		PASS	0.318	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		12	70	12	70	---	---	---	---
URGCP	55665	broad.mit.edu	37	7	43916608	43916608	+	Silent	SNP	T	T	C	rs369828947		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr7:43916608T>C	ENST00000453200.1	-	6	2947	c.2454A>G	c.(2452-2454)gtA>gtG	p.V818V	URGCP_ENST00000402306.3_Silent_p.V809V|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000336086.6_Silent_p.V775V|URGCP_ENST00000223341.7_Silent_p.V775V|URGCP_ENST00000447717.3_Silent_p.V775V|URGCP_ENST00000443736.1_Silent_p.V775V|URGCP-MRPS24_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	818	VLIG-type G.				cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.V818V(1)|p.V775V(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGTTCTGGTATACAAACTGGT	0.522																																						uc003tiw.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|liver(1)|skin(1)	4						c.(2452-2454)GTA>GTG		up-regulated gene 4 isoform 3		T	,,,	1,3875		0,1,1937	90.0	86.0	87.0		2454,2325,,2427	-2.9	0.9	7		87	0,8274		0,0,4137	no	coding-synonymous,coding-synonymous,intron,coding-synonymous	URGCP,URGCP-MRPS24	NM_001077663.1,NM_001077664.1,NM_001204871.1,NM_017920.3	,,,	0,1,6074	CC,CT,TT		0.0,0.0258,0.0082	,,,	818/932,775/889,,809/923	43916608	1,12149	1938	4137	6075	SO:0001819	synonymous_variant	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43916608T>C		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.2454A>G	7.37:g.43916608T>C						URGCP_uc003tiu.2_Silent_p.V775V|URGCP_uc003tiv.2_Silent_p.V743V|URGCP_uc003tix.2_Silent_p.V809V|URGCP_uc003tiy.2_Silent_p.V775V|URGCP_uc003tiz.2_Silent_p.V775V|URGCP_uc011kbj.1_Silent_p.V775V	p.V818V	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN			6	2511	-			818					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Silent	SNP	ENST00000453200.1	37	c.2454A>G	CCDS47578.1																																																																																				PASS	0.522	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		11	44	11	44	---	---	---	---
ZNF680	340252	broad.mit.edu	37	7	64004166	64004166	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr7:64004166T>C	ENST00000309683.6	-	3	323	c.172A>G	c.(172-174)Aag>Gag	p.K58E	ZNF680_ENST00000476563.1_5'UTR|ZNF680_ENST00000447137.2_Missense_Mutation_p.K58E	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	58	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.K58E(1)		breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				AGGTGAGGCTTAGAGACAGCA	0.403																																						uc003tta.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(172-174)AAG>GAG		zinc finger protein 680 isoform 1							111.0	109.0	110.0					7																	64004166		2203	4300	6503	SO:0001583	missense	340252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64004166T>C	AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"""Zinc fingers, C2H2-type"", ""-"""	26897	protein-coding gene	gene with protein product	"""hypothetical protein FLJ90430"""					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.172A>G	7.37:g.64004166T>C	ENSP00000309330:p.Lys58Glu					ZNF680_uc010kzr.2_Intron|ZNF680_uc003ttb.2_Missense_Mutation_p.K58E	p.K58E	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN			3	345	-		Lung NSC(55;0.118)|all_lung(88;0.243)	58			KRAB.		B3KVJ4|Q6ZNF3|Q8NC79	Missense_Mutation	SNP	ENST00000309683.6	37	c.172A>G	CCDS34644.1	.	.	.	.	.	.	.	.	.	.	N	12.43	1.934381	0.34096	.	.	ENSG00000173041	ENST00000309683;ENST00000447137	T;T	0.00932	5.53;5.53	0.665	0.665	0.17896	Krueppel-associated box (3);	.	.	.	.	T	0.02494	0.0076	M	0.84948	2.725	0.09310	N	1	D;P	0.54772	0.968;0.557	P;B	0.47673	0.554;0.162	T	0.37126	-0.9719	8	0.72032	D	0.01	.	.	.	.	.	58;58	Q6ZNF3;Q8NEM1	.;ZN680_HUMAN	E	58	ENSP00000309330:K58E;ENSP00000393506:K58E	ENSP00000309330:K58E	K	-	1	0	ZNF680	63641601	0.076000	0.21285	0.044000	0.18714	0.297000	0.27493	0.180000	0.16860	0.528000	0.28580	0.397000	0.26171	AAG		PASS	0.403	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344568.1	NM_178558		28	60	28	60	---	---	---	---
TMEM248	55069	broad.mit.edu	37	7	66410077	66410077	+	Missense_Mutation	SNP	G	G	A	rs56128303		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr7:66410077G>A	ENST00000341567.4	+	3	529	c.274G>A	c.(274-276)Ggg>Agg	p.G92R		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	92						integral component of membrane (GO:0016021)		p.G92R(1)									AATGACCAGCGGGCAGGCCCG	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		18466	0.0		0.001	False		,,,				2504	0.0					uc003tvk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(274-276)GGG>AGG		hypothetical protein LOC55069							58.0	60.0	59.0					7																	66410077		2203	4300	6503	SO:0001583	missense	55069					integral to membrane		g.chr7:66410077G>A		CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 42"""	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.274G>A	7.37:g.66410077G>A	ENSP00000340668:p.Gly92Arg					C7orf42_uc010lah.2_RNA|C7orf42_uc003tvl.2_Missense_Mutation_p.G92R	p.G92R	NM_017994	NP_060464	Q9NWD8	CG042_HUMAN			3	538	+			92					Q53H07|Q96FR2	Missense_Mutation	SNP	ENST00000341567.4	37	c.274G>A	CCDS5536.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	22.7	4.318484	0.81469	.	.	ENSG00000106609	ENST00000341567;ENST00000424964;ENST00000418375	.	.	.	5.84	4.01	0.46588	.	0.183151	0.64402	D	0.000015	T	0.32763	0.0840	L	0.27053	0.805	0.48395	D	0.999642	D	0.53619	0.961	B	0.39904	0.313	T	0.09751	-1.0660	9	0.54805	T	0.06	-0.6218	10.8767	0.46915	0.0703:0.1308:0.7989:0.0	rs56128303	92	Q9NWD8	CG042_HUMAN	R	92	.	ENSP00000340668:G92R	G	+	1	0	C7orf42	66047512	1.000000	0.71417	0.989000	0.46669	0.962000	0.63368	6.023000	0.70848	0.796000	0.33947	-0.258000	0.10820	GGG		PASS	0.547	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251745.2	NM_017994		8	26	8	26	---	---	---	---
ELN	2006	broad.mit.edu	37	7	73474756	73474756	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr7:73474756G>A	ENST00000252034.7	+	25	2071	c.1672G>A	c.(1672-1674)Ggc>Agc	p.G558S	ELN_ENST00000320399.6_Missense_Mutation_p.G558S|ELN_ENST00000380562.4_Missense_Mutation_p.G564S|ELN_ENST00000380575.4_Missense_Mutation_p.G529S|ELN_ENST00000358929.4_Missense_Mutation_p.G593S|ELN_ENST00000445912.1_Missense_Mutation_p.G558S|ELN_ENST00000380576.5_Missense_Mutation_p.G539S|ELN_ENST00000357036.5_Missense_Mutation_p.G563S|ELN_ENST00000380584.4_Missense_Mutation_p.G510S|ELN_ENST00000458204.1_Missense_Mutation_p.G548S|ELN_ENST00000414324.1_Missense_Mutation_p.G534S|ELN_ENST00000429192.1_Missense_Mutation_p.G544S|ELN_ENST00000380553.4_Missense_Mutation_p.G422S|ELN_ENST00000320492.7_Missense_Mutation_p.G477S|CTB-51J22.1_ENST00000435932.1_RNA	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)	p.G558S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				AGTTGGTGTCGGCGTCCCTGG	0.627			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															uc003tzw.2				Dom	yes		7	7q11.23	2006	T	elastin	yes	Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome	L	PAX5		B-ALL		1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)	5						c.(1690-1692)GGC>AGC		elastin isoform a precursor	Rofecoxib(DB00533)						292.0	292.0	292.0					7																	73474756		2203	4300	6503	SO:0001583	missense	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73474756G>A		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1672G>A	7.37:g.73474756G>A	ENSP00000252034:p.Gly558Ser					RFC2_uc011kfa.1_Intron|ELN_uc003tzn.2_Missense_Mutation_p.G558S|ELN_uc003tzz.2_Missense_Mutation_p.G477S|ELN_uc003tzo.2_Missense_Mutation_p.G510S|ELN_uc003tzp.2_Missense_Mutation_p.G469S|ELN_uc003tzq.2_Missense_Mutation_p.G422S|ELN_uc003tzr.2_Intron|ELN_uc003tzs.2_Missense_Mutation_p.G539S|ELN_uc003tzt.2_Missense_Mutation_p.G563S|ELN_uc003tzu.2_Missense_Mutation_p.G544S|ELN_uc003tzv.2_Missense_Mutation_p.G529S|ELN_uc003tzx.2_Missense_Mutation_p.G548S|ELN_uc011kff.1_Missense_Mutation_p.G558S|ELN_uc003tzy.2_Missense_Mutation_p.G534S	p.G564S	NM_000501	NP_001075224	P15502	ELN_HUMAN			25	1781	+		Lung NSC(55;0.159)	587			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	c.1690G>A	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256995	0.39896	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000442462;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.59083	0.33;0.37;0.74;0.71;0.39;0.38;0.56;1.22;0.39;0.29;0.46;0.49;0.39;0.57	3.98	3.98	0.46160	.	.	.	.	.	T	0.58061	0.2096	.	.	.	0.33101	D	0.539264	D;D;D;D;D;D;D;D;D;D;D;D;D	0.56035	0.974;0.974;0.974;0.974;0.974;0.974;0.974;0.974;0.974;0.974;0.974;0.974;0.974	P;P;P;P;P;P;P;P;P;P;P;P;P	0.47573	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	T	0.71255	-0.4647	8	0.66056	D	0.02	-0.7292	11.9059	0.52713	0.0:0.0:1.0:0.0	.	558;477;534;548;564;529;544;563;539;422;469;510;558	E7ENM0;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.	S	558;558;593;477;534;564;529;510;548;563;544;497;422;539;558	ENSP00000389857:G558S;ENSP00000252034:G558S;ENSP00000351807:G593S;ENSP00000315607:G477S;ENSP00000392575:G534S;ENSP00000369936:G564S;ENSP00000369949:G529S;ENSP00000369958:G510S;ENSP00000403162:G548S;ENSP00000349540:G563S;ENSP00000391129:G544S;ENSP00000369926:G422S;ENSP00000369950:G539S;ENSP00000313565:G558S	ENSP00000252034:G558S	G	+	1	0	ELN	73112692	1.000000	0.71417	0.594000	0.28785	0.034000	0.12701	5.916000	0.69981	2.247000	0.74100	0.449000	0.29647	GGC		PASS	0.627	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		13	63	13	63	---	---	---	---
PTPN12	5782	broad.mit.edu	37	7	77256840	77256840	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr7:77256840G>T	ENST00000248594.6	+	13	2116	c.1844G>T	c.(1843-1845)gGt>gTt	p.G615V	PTPN12_ENST00000415482.2_Missense_Mutation_p.G496V|PTPN12_ENST00000435495.2_Missense_Mutation_p.G485V	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	615					protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)	p.G615V(1)		breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						AACTCTGATGGTGCTGTGACC	0.413																																						uc003ugh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|pancreas(1)	3						c.(1843-1845)GGT>GTT		protein tyrosine phosphatase, non-receptor type							102.0	102.0	102.0					7																	77256840		2203	4300	6503	SO:0001583	missense	5782					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77256840G>T		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.1844G>T	7.37:g.77256840G>T	ENSP00000248594:p.Gly615Val					PTPN12_uc011kgp.1_Missense_Mutation_p.G496V|PTPN12_uc011kgq.1_Missense_Mutation_p.G485V|PTPN12_uc010lds.2_Missense_Mutation_p.G347V	p.G615V	NM_002835	NP_002826	Q05209	PTN12_HUMAN			13	1935	+			615					A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	c.1844G>T	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.348735	0.41599	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495;ENST00000407343	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.8	4.0	0.46444	.	0.286982	0.39615	N	0.001320	T	0.44117	0.1278	M	0.68593	2.085	0.80722	D	1	B	0.21309	0.054	B	0.28553	0.091	T	0.49041	-0.8980	10	0.87932	D	0	.	11.9999	0.53224	0.1384:0.0:0.8616:0.0	.	615	Q05209	PTN12_HUMAN	V	615;496;496;485;123	ENSP00000248594:G615V;ENSP00000392429:G496V;ENSP00000397991:G485V;ENSP00000385079:G123V	ENSP00000248594:G615V	G	+	2	0	PTPN12	77094776	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.082000	0.50128	1.479000	0.48272	0.563000	0.77884	GGT		PASS	0.413	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			18	80	18	80	---	---	---	---
ANKIB1	54467	broad.mit.edu	37	7	92027804	92027804	+	Silent	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr7:92027804G>A	ENST00000265742.3	+	20	3187	c.2811G>A	c.(2809-2811)ctG>ctA	p.L937L		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	937							zinc ion binding (GO:0008270)	p.L937L(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTGACACCCTGAGCTCACACC	0.512																																						uc003ulw.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(2809-2811)CTG>CTA		ankyrin repeat and IBR domain containing 1							105.0	101.0	102.0					7																	92027804		2012	4183	6195	SO:0001819	synonymous_variant	54467						protein binding|zinc ion binding	g.chr7:92027804G>A	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.2811G>A	7.37:g.92027804G>A						ANKIB1_uc010lew.1_Silent_p.L206L	p.L937L	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		20	3187	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		937					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Silent	SNP	ENST00000265742.3	37	c.2811G>A	CCDS47639.1																																																																																				PASS	0.512	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			19	52	19	52	---	---	---	---
CALCR	799	broad.mit.edu	37	7	93055874	93055874	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr7:93055874C>A	ENST00000394441.1	-	13	1534	c.1219G>T	c.(1219-1221)Gcc>Tcc	p.A407S	CALCR_ENST00000426151.1_Missense_Mutation_p.A407S|CALCR_ENST00000421592.1_Missense_Mutation_p.A423S|CALCR_ENST00000360249.4_Missense_Mutation_p.A423S|CALCR_ENST00000359558.2_Missense_Mutation_p.A441S	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	441					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.A407S(1)|p.A441S(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	TTGAATTGGGCCCATTGGCGC	0.537																																						uc003umv.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(1321-1323)GCC>TCC		calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)						39.0	44.0	42.0					7																	93055874		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	g.chr7:93055874C>A	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.1219G>T	7.37:g.93055874C>A	ENSP00000377959:p.Ala407Ser					CALCR_uc011kia.1_Missense_Mutation_p.A221S|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.A407S|CALCR_uc003umw.2_Missense_Mutation_p.A407S	p.A441S	NM_001742	NP_001733	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		15	1582	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		423			Cytoplasmic (Potential).		A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.1321G>T	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	C	5.175	0.217850	0.09810	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	4.92	-1.6	0.08426	.	.	.	.	.	T	0.20495	0.0493	N	0.25647	0.755	0.09310	N	1	B;B	0.21225	0.053;0.007	B;B	0.28916	0.096;0.007	T	0.37619	-0.9698	9	0.10636	T	0.68	.	5.3277	0.15915	0.0:0.434:0.1412:0.4248	.	441;407	F5H605;A4D1G6	.;.	S	441;423;423;407;407	ENSP00000352561:A441S;ENSP00000353385:A423S;ENSP00000399552:A423S;ENSP00000377959:A407S;ENSP00000389295:A407S	ENSP00000352561:A441S	A	-	1	0	CALCR	92893810	0.028000	0.19301	0.006000	0.13384	0.155000	0.21991	0.115000	0.15540	-0.422000	0.07405	0.585000	0.79938	GCC		PASS	0.537	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		5	31	5	31	---	---	---	---
SLC25A13	10165	broad.mit.edu	37	7	95822420	95822420	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr7:95822420C>A	ENST00000265631.5	-	6	680	c.544G>T	c.(544-546)Gac>Tac	p.D182Y	SLC25A13_ENST00000416240.2_Missense_Mutation_p.D182Y|SLC25A13_ENST00000542654.1_Missense_Mutation_p.D74Y			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	182	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)	p.D182Y(1)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TCTCGGAAGTCGATGGCTGTG	0.453																																						uc003uof.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|skin(1)	4						c.(544-546)GAC>TAC		solute carrier family 25, member 13 isoform 2	L-Aspartic Acid(DB00128)						161.0	143.0	149.0					7																	95822420		2203	4300	6503	SO:0001583	missense	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95822420C>A	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.544G>T	7.37:g.95822420C>A	ENSP00000265631:p.Asp182Tyr					SLC25A13_uc003uog.3_Missense_Mutation_p.D182Y|SLC25A13_uc011kik.1_Missense_Mutation_p.D74Y	p.D182Y	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		6	735	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		182			3.|EF-hand 4.		O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	c.544G>T	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421040	0.83559	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	D;D;D	0.81659	-1.52;-1.52;-1.52	5.09	5.09	0.68999	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.91280	0.7251	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.99;0.99	D	0.92271	0.5825	10	0.87932	D	0	-21.1288	19.0741	0.93151	0.0:1.0:0.0:0.0	.	74;182;182	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	Y	182;182;74	ENSP00000265631:D182Y;ENSP00000400101:D182Y;ENSP00000440484:D74Y	ENSP00000265631:D182Y	D	-	1	0	SLC25A13	95660356	1.000000	0.71417	0.999000	0.59377	0.554000	0.35429	7.651000	0.83577	2.817000	0.96982	0.563000	0.77884	GAC		PASS	0.453	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		12	45	12	45	---	---	---	---
PTCD1	26024	broad.mit.edu	37	7	99022669	99022669	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr7:99022669C>G	ENST00000292478.4	-	6	1736	c.1486G>C	c.(1486-1488)Gtg>Ctg	p.V496L	PTCD1_ENST00000555673.1_Missense_Mutation_p.V545L|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.V545L	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	496					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)	p.V496L(1)		endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GACTCCACCACCTCGGCCAGT	0.617																																						uc003uqh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1486-1488)GTG>CTG		pentatricopeptide repeat domain 1							64.0	65.0	64.0					7																	99022669		2203	4300	6503	SO:0001583	missense	26024							g.chr7:99022669C>G	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.1486G>C	7.37:g.99022669C>G	ENSP00000292478:p.Val496Leu					PTCD1_uc011kiw.1_Missense_Mutation_p.V545L	p.V496L	NM_015545	NP_056360	O75127	PTCD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		6	1617	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		496					Q3ZB78|Q66K60|Q9UDV2	Missense_Mutation	SNP	ENST00000292478.4	37	c.1486G>C	CCDS34691.1	.	.	.	.	.	.	.	.	.	.	C	9.446	1.089382	0.20390	.	.	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000438524;ENST00000555673;ENST00000413834	T;T;T	0.59364	0.28;0.27;0.27	5.58	3.45	0.39498	.	0.520709	0.21746	N	0.069758	T	0.31544	0.0800	N	0.12471	0.22	0.41289	D	0.986966	B;B	0.12013	0.005;0.003	B;B	0.15484	0.013;0.004	T	0.09335	-1.0679	10	0.08179	T	0.78	-22.7083	7.2397	0.26090	0.0:0.6236:0.1446:0.2318	.	545;496	G3V325;O75127	.;PTCD1_HUMAN	L	496;278;545;545	ENSP00000292478:V496L;ENSP00000450995:V545L;ENSP00000400168:V545L	ENSP00000400168:V545L	V	-	1	0	ATP5J2-PTCD1;PTCD1	98860605	0.829000	0.29322	0.998000	0.56505	0.368000	0.29767	0.044000	0.13992	1.356000	0.45884	0.561000	0.74099	GTG		PASS	0.617	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		7	29	7	29	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100372950	100372950	+	RNA	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr7:100372950G>T	ENST00000348028.3	+	0	5944				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G1926V(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GTCCTCCCAGGTGTGGGAGTG	0.567																																						uc003uwj.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(5779-5781)GGT>GTT		zonadhesin isoform 3							36.0	38.0	37.0					7																	100372950		2000	4164	6164			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100372950G>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100372950G>T						ZAN_uc003uwk.2_Missense_Mutation_p.G1927V|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Missense_Mutation_p.G14V	p.G1927V	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		33	5945	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		1927			Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.5780G>T		.	.	.	.	.	.	.	.	.	.	G	14.10	2.434428	0.43224	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;D	0.82344	2.44;2.43;2.41;-1.6	3.75	0.557	0.17260	von Willebrand factor, type D domain (1);	0.550760	0.15330	N	0.268096	T	0.76550	0.4003	N	0.12961	0.28	0.45662	D	0.998587	D;D;D	0.71674	0.998;0.98;0.965	D;P;P	0.64776	0.929;0.814;0.656	T	0.70185	-0.4941	9	.	.	.	.	3.3741	0.07232	0.2552:0.2202:0.5246:0.0	.	437;1926;1927	F5GX59;F5H0T8;Q9Y493	.;.;ZAN_HUMAN	V	1926;1926;1926;437	ENSP00000445943:G1926V;ENSP00000445091:G1926V;ENSP00000444427:G1926V;ENSP00000441117:G437V	.	G	+	2	0	ZAN	100210886	0.975000	0.34042	0.290000	0.24890	0.163000	0.22366	1.636000	0.37144	0.327000	0.23409	0.462000	0.41574	GGT		PASS	0.567	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		4	17	4	17	---	---	---	---
MYL10	93408	broad.mit.edu	37	7	101267539	101267539	+	Silent	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr7:101267539C>A	ENST00000223167.4	-	2	261	c.84G>T	c.(82-84)ccG>ccT	p.P28P		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	28						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.P28P(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						GAGCTCTTCTCGGTGCCTGCG	0.602																																					Esophageal Squamous(24;575 709 17516 40384 51639)	uc003uyr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(82-84)CCG>CCT		myosin, light chain 10, regulatory							106.0	101.0	103.0					7																	101267539		2203	4300	6503	SO:0001819	synonymous_variant	93408					mitochondrion	calcium ion binding	g.chr7:101267539C>A	BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"""Myosins / Light chain"", ""EF-hand domain containing"""	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.84G>T	7.37:g.101267539C>A							p.P28P	NM_138403	NP_612412	Q9BUA6	MYL10_HUMAN			2	262	-			28						Silent	SNP	ENST00000223167.4	37	c.84G>T	CCDS34713.1																																																																																				PASS	0.602	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1	NM_138403		4	41	4	41	---	---	---	---
CPA4	51200	broad.mit.edu	37	7	129950677	129950677	+	Missense_Mutation	SNP	G	G	C	rs570075096		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr7:129950677G>C	ENST00000222482.4	+	9	872	c.844G>C	c.(844-846)Gcc>Ccc	p.A282P	CPA4_ENST00000445470.2_Missense_Mutation_p.A249P|CPA4_ENST00000493259.1_Missense_Mutation_p.A178P	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	282					histone acetylation (GO:0016573)	extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.A282P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					TGGACCCCACGCCAATTCGGA	0.493																																						uc003vpr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(844-846)GCC>CCC		carboxypeptidase A4 preproprotein							102.0	96.0	98.0					7																	129950677		2203	4300	6503	SO:0001583	missense	51200				histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129950677G>C	AF095719	CCDS5818.1, CCDS55163.1	7q32	2008-07-18			ENSG00000128510	ENSG00000128510			15740	protein-coding gene	gene with protein product	"""carboxypeptidase A3"""	607635				10383164, 10860668	Standard	NM_016352		Approved	CPA3	uc003vpr.3	Q9UI42	OTTHUMG00000157825	ENST00000222482.4:c.844G>C	7.37:g.129950677G>C	ENSP00000222482:p.Ala282Pro					CPA4_uc011kpd.1_Missense_Mutation_p.A249P|CPA4_uc011kpe.1_Missense_Mutation_p.A178P	p.A282P	NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN			9	891	+	Melanoma(18;0.0435)		282					B7Z576|Q86UY9	Missense_Mutation	SNP	ENST00000222482.4	37	c.844G>C	CCDS5818.1	.	.	.	.	.	.	.	.	.	.	G	1.527	-0.545450	0.04024	.	.	ENSG00000128510	ENST00000445470;ENST00000222482;ENST00000538687;ENST00000493259	T;T;T	0.10099	2.91;2.91;2.91	6.07	2.08	0.27032	Peptidase M14, carboxypeptidase A (2);	0.234517	0.42682	N	0.000661	T	0.05456	0.0144	N	0.05441	-0.05	0.52099	D	0.999944	B;B	0.26744	0.025;0.158	B;B	0.32677	0.146;0.15	T	0.26849	-1.0091	10	0.02654	T	1	.	13.7178	0.62708	0.07:0.4263:0.5038:0.0	.	249;282	B7Z576;Q9UI42	.;CBPA4_HUMAN	P	249;282;87;178	ENSP00000412947:A249P;ENSP00000222482:A282P;ENSP00000419660:A178P	ENSP00000222482:A282P	A	+	1	0	CPA4	129737913	0.060000	0.20803	0.946000	0.38457	0.449000	0.32228	0.634000	0.24614	0.422000	0.26005	-0.910000	0.02820	GCC		PASS	0.493	CPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349725.1	NM_016352		16	71	16	71	---	---	---	---
CHRM2	1129	broad.mit.edu	37	7	136700338	136700338	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr7:136700338G>T	ENST00000445907.2	+	3	1254	c.726G>T	c.(724-726)aaG>aaT	p.K242N	hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.K242N|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.K242N|CHRM2_ENST00000397608.3_Missense_Mutation_p.K242N|CHRM2_ENST00000320658.5_Missense_Mutation_p.K242N|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.K242N	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	242					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.K242N(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GGATAGTGAAGCCAAACAATA	0.502																																						uc003vtf.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(724-726)AAG>AAT		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						54.0	53.0	53.0					7																	136700338		2203	4300	6503	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700338G>T		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.726G>T	7.37:g.136700338G>T	ENSP00000399745:p.Lys242Asn					CHRM2_uc003vtg.1_Missense_Mutation_p.K242N|CHRM2_uc003vtj.1_Missense_Mutation_p.K242N|CHRM2_uc003vtk.1_Missense_Mutation_p.K242N|CHRM2_uc003vtl.1_Missense_Mutation_p.K242N|CHRM2_uc003vtm.1_Missense_Mutation_p.K242N|CHRM2_uc003vti.1_Missense_Mutation_p.K242N|CHRM2_uc003vto.1_Missense_Mutation_p.K242N|CHRM2_uc003vtn.1_Missense_Mutation_p.K242N|uc003vtp.1_Intron	p.K242N	NM_001006630	NP_001006631	P08172	ACM2_HUMAN			4	1349	+			242			Cytoplasmic (By similarity).		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.726G>T	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	G	9.478	1.097396	0.20552	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.4	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.420165	0.25919	N	0.027446	T	0.60314	0.2259	L	0.58302	1.8	0.53005	D	0.999966	B	0.27997	0.197	B	0.39935	0.314	T	0.56974	-0.7890	10	0.32370	T	0.25	-5.3063	6.3603	0.21425	0.3136:0.0:0.6864:0.0	.	242	P08172	ACM2_HUMAN	N	242	ENSP00000399745:K242N;ENSP00000415386:K242N;ENSP00000319984:K242N;ENSP00000380733:K242N;ENSP00000384937:K242N;ENSP00000384401:K242N	ENSP00000319984:K242N	K	+	3	2	CHRM2	136350878	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.136000	0.42121	1.289000	0.44618	0.655000	0.94253	AAG		PASS	0.502	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			7	23	7	23	---	---	---	---
UBN2	254048	broad.mit.edu	37	7	138978162	138978162	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr7:138978162C>T	ENST00000473989.3	+	16	3854	c.3854C>T	c.(3853-3855)aCc>aTc	p.T1285I	UBN2_ENST00000288561.8_Missense_Mutation_p.T1202I	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1285						extracellular space (GO:0005615)|nucleus (GO:0005634)		p.T1202I(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GGAGTGACAACCACCTCGGGA	0.517																																						uc011kqr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(3853-3855)ACC>ATC		ubinuclein 2							91.0	87.0	88.0					7																	138978162		1921	4125	6046	SO:0001583	missense	254048							g.chr7:138978162C>T	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.3854C>T	7.37:g.138978162C>T	ENSP00000418648:p.Thr1285Ile						p.T1285I	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN			16	3854	+			1285					A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.3854C>T	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688650	0.68271	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.29397	1.61;1.57	5.76	5.76	0.90799	.	0.237331	0.38164	N	0.001791	T	0.31358	0.0794	L	0.43152	1.355	0.41197	D	0.986344	B	0.31227	0.314	B	0.30782	0.12	T	0.02991	-1.1085	10	0.31617	T	0.26	-0.2882	20.3242	0.98691	0.0:1.0:0.0:0.0	.	1285	Q6ZU65	UBN2_HUMAN	I	1285;1202	ENSP00000418648:T1285I;ENSP00000288561:T1202I	ENSP00000288561:T1202I	T	+	2	0	UBN2	138628702	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.805000	0.47939	2.882000	0.98803	0.655000	0.94253	ACC		PASS	0.517	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		14	52	14	52	---	---	---	---
WEE2	494551	broad.mit.edu	37	7	141408804	141408804	+	Silent	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr7:141408804G>A	ENST00000397541.2	+	1	652	c.246G>A	c.(244-246)agG>agA	p.R82R	WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000462383.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	82					female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)	p.R82R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					AGATTTTGAGGACTCCAGTGT	0.522																																						uc003vwn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|stomach(1)	2						c.(244-246)AGG>AGA		WEE1 homolog 2							143.0	140.0	141.0					7																	141408804		1959	4159	6118	SO:0001819	synonymous_variant	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141408804G>A	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.246G>A	7.37:g.141408804G>A						FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	p.R82R	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN			1	652	+	Melanoma(164;0.0171)		82						Silent	SNP	ENST00000397541.2	37	c.246G>A	CCDS43660.1																																																																																				PASS	0.522	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		43	150	43	150	---	---	---	---
PDIA4	9601	broad.mit.edu	37	7	148716232	148716232	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr7:148716232C>A	ENST00000286091.4	-	3	559	c.327G>T	c.(325-327)aaG>aaT	p.K109N		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	109	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)	p.K109N(1)		large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			GATCTTTATCCTTTAATATGT	0.448																																						uc003wff.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(1)	6						c.(325-327)AAG>AAT		protein disulfide isomerase A4 precursor							110.0	104.0	106.0					7																	148716232		2203	4300	6503	SO:0001583	missense	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148716232C>A	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.327G>T	7.37:g.148716232C>A	ENSP00000286091:p.Lys109Asn						p.K109N	NM_004911	NP_004902	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		3	609	-	Melanoma(164;0.15)		109			Thioredoxin 1.		A8K4K6|Q549T6	Missense_Mutation	SNP	ENST00000286091.4	37	c.327G>T	CCDS5893.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.743585	0.30865	.	.	ENSG00000155660	ENST00000286091;ENST00000413966	T;T	0.44881	0.91;0.91	5.15	3.31	0.37934	Thioredoxin domain (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	0.161766	0.53938	D	0.000056	T	0.39809	0.1092	M	0.72576	2.205	0.53005	D	0.99996	B	0.22211	0.066	B	0.23574	0.047	T	0.37267	-0.9713	10	0.49607	T	0.09	.	7.5343	0.27702	0.0:0.6071:0.2446:0.1483	.	109	P13667	PDIA4_HUMAN	N	109;157	ENSP00000286091:K109N;ENSP00000408628:K157N	ENSP00000286091:K109N	K	-	3	2	PDIA4	148347165	1.000000	0.71417	0.695000	0.30226	0.499000	0.33736	0.822000	0.27352	1.314000	0.45095	0.563000	0.77884	AAG		PASS	0.448	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		5	66	5	66	---	---	---	---
ABCF2	10061	broad.mit.edu	37	7	150921066	150921066	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr7:150921066C>G	ENST00000287844.2	-	4	611	c.502G>C	c.(502-504)Gag>Cag	p.E168Q	ABCF2_ENST00000473874.1_5'Flank|ABCF2_ENST00000222388.2_Missense_Mutation_p.E168Q	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	168	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)	p.E168Q(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATGGCCCGCTCTGTGTCGACT	0.592																																						uc003wjp.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(502-504)GAG>CAG		ATP-binding cassette, sub-family F, member 2							105.0	92.0	96.0					7																	150921066		2203	4300	6503	SO:0001583	missense	10061					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity	g.chr7:150921066C>G	AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"""ATP binding cassette transporters / subfamily F"""	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.502G>C	7.37:g.150921066C>G	ENSP00000287844:p.Glu168Gln					ABCF2_uc003wjo.1_Missense_Mutation_p.E168Q	p.E168Q	NM_007189	NP_009120	Q9UG63	ABCF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	4	613	-			168			ABC transporter 1.		O60864|Q75MJ0|Q75MJ1|Q96TE8	Missense_Mutation	SNP	ENST00000287844.2	37	c.502G>C	CCDS5923.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837036	0.71373	.	.	ENSG00000033050	ENST00000222388;ENST00000287844;ENST00000468073;ENST00000441774	D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34	5.81	5.81	0.92471	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.093044	0.64402	N	0.000001	D	0.94311	0.8172	L	0.60455	1.87	0.80722	D	1	B;B	0.32876	0.388;0.388	B;B	0.44044	0.439;0.439	D	0.93223	0.6610	10	0.54805	T	0.06	0.5584	19.0707	0.93134	0.0:1.0:0.0:0.0	.	168;168	Q9UG63;Q75MJ1	ABCF2_HUMAN;.	Q	168	ENSP00000222388:E168Q;ENSP00000287844:E168Q;ENSP00000419720:E168Q;ENSP00000395785:E168Q	ENSP00000222388:E168Q	E	-	1	0	ABCF2	150551999	0.999000	0.42202	0.992000	0.48379	0.991000	0.79684	3.813000	0.55636	2.746000	0.94184	0.655000	0.94253	GAG		PASS	0.592	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336086.1	NM_005692		8	56	8	56	---	---	---	---
ABCF2	10061	broad.mit.edu	37	7	150921083	150921083	+	Missense_Mutation	SNP	A	A	T	rs202093897		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr7:150921083A>T	ENST00000287844.2	-	4	594	c.485T>A	c.(484-486)gTg>gAg	p.V162E	ABCF2_ENST00000473874.1_5'Flank|ABCF2_ENST00000222388.2_Missense_Mutation_p.V162E	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	162	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)	p.V162E(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACTTCCATCACACAATGCAA	0.577																																						uc003wjp.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(484-486)GTG>GAG		ATP-binding cassette, sub-family F, member 2							117.0	100.0	106.0					7																	150921083		2203	4300	6503	SO:0001583	missense	10061					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity	g.chr7:150921083A>T	AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"""ATP binding cassette transporters / subfamily F"""	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.485T>A	7.37:g.150921083A>T	ENSP00000287844:p.Val162Glu					ABCF2_uc003wjo.1_Missense_Mutation_p.V162E	p.V162E	NM_007189	NP_009120	Q9UG63	ABCF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	4	596	-			162			ABC transporter 1.		O60864|Q75MJ0|Q75MJ1|Q96TE8	Missense_Mutation	SNP	ENST00000287844.2	37	c.485T>A	CCDS5923.1	.	.	.	.	.	.	.	.	.	.	A	32	5.107712	0.94292	.	.	ENSG00000033050	ENST00000222388;ENST00000287844;ENST00000468073;ENST00000441774	D;D;T;T	0.93906	-3.25;-3.31;3.9;3.9	5.81	5.81	0.92471	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.97726	0.9254	H	0.95611	3.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98888	1.0772	10	0.87932	D	0	-1.1926	15.3511	0.74389	1.0:0.0:0.0:0.0	.	162;162	Q9UG63;Q75MJ1	ABCF2_HUMAN;.	E	162	ENSP00000222388:V162E;ENSP00000287844:V162E;ENSP00000419720:V162E;ENSP00000395785:V162E	ENSP00000222388:V162E	V	-	2	0	ABCF2	150552016	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.016000	0.93645	2.217000	0.71921	0.533000	0.62120	GTG		PASS	0.577	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336086.1	NM_005692		8	58	8	58	---	---	---	---
HTR5A	3361	broad.mit.edu	37	7	154876035	154876035	+	Silent	SNP	C	C	G	rs140450324	byFrequency	TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr7:154876035C>G	ENST00000287907.2	+	2	1488	c.912C>G	c.(910-912)acC>acG	p.T304T	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	304					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)	p.T304T(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	TCTTTCTCACCGAGCTCATCA	0.587																																						uc003wlu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(910-912)ACC>ACG		5-hydroxytryptamine receptor 5A							231.0	190.0	204.0					7																	154876035		2203	4300	6503	SO:0001819	synonymous_variant	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154876035C>G		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.912C>G	7.37:g.154876035C>G							p.T304T	NM_024012	NP_076917	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	2	976	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	304			Extracellular (By similarity).		Q2M2D2	Silent	SNP	ENST00000287907.2	37	c.912C>G	CCDS5936.1																																																																																				PASS	0.587	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		20	73	20	73	---	---	---	---
SGK223	157285	broad.mit.edu	37	8	8233763	8233763	+	Splice_Site	SNP	C	C	T	rs375344955		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr8:8233763C>T	ENST00000520004.1	-	3	2420	c.2156G>A	c.(2155-2157)cGg>cAg	p.R719Q	SGK223_ENST00000330777.4_Splice_Site_p.R719Q			Q86YV5	SG223_HUMAN		721							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.R719Q(1)									TGGTACTCACCGCGACTTTGG	0.552																																					GBM(34;731 755 10259 33573 33867)	uc003wsh.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2155-2157)CGG>CAG		pragmin		C	GLN/ARG	0,3886		0,0,1943	83.0	92.0	89.0		2156	5.4	1.0	8		89	1,8261		0,1,4130	no	missense-near-splice	SGK223	NM_001080826.1	43	0,1,6073	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	719/1403	8233763	1,12147	1943	4131	6074	SO:0001630	splice_region_variant	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8233763C>T																												ENST00000520004.1:c.2156+1G>A	8.37:g.8233763C>T							p.R719Q	NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN			2	2156	-			719					Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.2156G>A	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810400	0.70797	0.0	1.21E-4	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.62364	0.03;0.03	5.42	5.42	0.78866	.	0.445889	0.21694	N	0.070526	T	0.64670	0.2619	N	0.19112	0.55	0.36020	D	0.83864	D	0.89917	1.0	D	0.79108	0.992	T	0.66999	-0.5781	9	.	.	.	.	12.5858	0.56416	0.0:0.9195:0.0:0.0805	.	719	Q86YV5	SG223_HUMAN	Q	719	ENSP00000330930:R719Q;ENSP00000428054:R719Q	.	R	-	2	0	AC068353.1	8271173	0.992000	0.36948	0.986000	0.45419	0.477000	0.33069	2.700000	0.47085	2.725000	0.93324	0.655000	0.94253	CGG		PASS	0.552	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1		Missense_Mutation	9	28	9	28	---	---	---	---
KIF13B	23303	broad.mit.edu	37	8	28989937	28989937	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr8:28989937C>T	ENST00000524189.1	-	23	2868	c.2830G>A	c.(2830-2832)Gaa>Aaa	p.E944K	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	944					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)	p.E944K(2)		endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AATGCTCCTTCGGAAAGATGC	0.413																																						uc003xhh.3																			2	Substitution - Missense(2)		lung(2)		0						c.(2830-2832)GAA>AAA		kinesin family member 13B							70.0	70.0	70.0					8																	28989937		1834	4083	5917	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:28989937C>T	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.2830G>A	8.37:g.28989937C>T	ENSP00000427900:p.Glu944Lys					uc003xhi.1_Intron	p.E944K	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	23	2889	-		Ovarian(32;0.000536)	944					B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.2830G>A	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	33	5.211660	0.95069	.	.	ENSG00000197892	ENST00000524189	T	0.71698	-0.59	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.81941	0.4929	M	0.84326	2.69	0.80722	D	1	D	0.62365	0.991	P	0.55087	0.768	D	0.85541	0.1215	10	0.66056	D	0.02	.	17.2898	0.87152	0.0:1.0:0.0:0.0	.	944	F8VPJ2	.	K	944	ENSP00000427900:E944K	ENSP00000427900:E944K	E	-	1	0	KIF13B	29045856	1.000000	0.71417	0.998000	0.56505	0.811000	0.45836	7.320000	0.79064	2.410000	0.81850	0.467000	0.42956	GAA		PASS	0.413	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			13	22	13	22	---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30702390	30702390	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr8:30702390C>G	ENST00000256246.2	-	1	4218	c.4144G>C	c.(4144-4146)Gag>Cag	p.E1382Q		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1382					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.E1382Q(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)		TTTAGAAGCTCTTTTTCTCTA	0.398																																						uc003xil.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(4144-4146)GAG>CAG		testis expressed 15							88.0	88.0	88.0					8																	30702390		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30702390C>G	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.4144G>C	8.37:g.30702390C>G	ENSP00000256246:p.Glu1382Gln						p.E1382Q	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	4144	-			1382						Missense_Mutation	SNP	ENST00000256246.2	37	c.4144G>C	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102143	0.37048	.	.	ENSG00000133863	ENST00000256246	T	0.24538	1.85	5.7	3.91	0.45181	.	0.387780	0.22298	N	0.061916	T	0.38904	0.1058	L	0.47716	1.5	0.09310	N	1	D	0.76494	0.999	D	0.67382	0.951	T	0.12889	-1.0530	10	0.87932	D	0	.	8.5372	0.33371	0.0:0.8242:0.0:0.1758	.	1382	Q9BXT5	TEX15_HUMAN	Q	1382	ENSP00000256246:E1382Q	ENSP00000256246:E1382Q	E	-	1	0	TEX15	30821932	0.000000	0.05858	0.003000	0.11579	0.015000	0.08874	0.773000	0.26661	0.770000	0.33336	0.655000	0.94253	GAG		PASS	0.398	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			17	37	17	37	---	---	---	---
SOX17	64321	broad.mit.edu	37	8	55372456	55372456	+	Silent	SNP	T	T	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr8:55372456T>C	ENST00000297316.4	+	2	1350	c.1146T>C	c.(1144-1146)caT>caC	p.H382H		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	382	Sox C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00849}.				angiogenesis (GO:0001525)|canonical Wnt signaling pathway (GO:0060070)|cardiac cell fate determination (GO:0060913)|cardiogenic plate morphogenesis (GO:0003142)|cell migration involved in gastrulation (GO:0042074)|common bile duct development (GO:0061009)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|endoderm formation (GO:0001706)|endodermal cell fate determination (GO:0007493)|endodermal digestive tract morphogenesis (GO:0061031)|gall bladder development (GO:0061010)|heart formation (GO:0060914)|heart looping (GO:0001947)|inner cell mass cellular morphogenesis (GO:0001828)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth (GO:0030308)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell differentiation (GO:0045597)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein destabilization (GO:0031648)|protein stabilization (GO:0050821)|regulation of cardiac cell fate specification (GO:2000043)|regulation of embryonic development (GO:0045995)|regulation of stem cell division (GO:2000035)|regulation of stem cell proliferation (GO:0072091)|regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification (GO:0060807)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|rostrocaudal neural tube patterning (GO:0021903)|signal transduction involved in regulation of gene expression (GO:0023019)|spermatogenesis (GO:0007283)|stem cell fate specification (GO:0048866)|vasculogenesis (GO:0001570)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.H382H(1)		endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			ACCAGGGGCATGACTCCGGTG	0.612																																						uc003xsb.3																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(1144-1146)CAT>CAC		SRY-box 17							41.0	46.0	45.0					8																	55372456		2203	4300	6503	SO:0001819	synonymous_variant	64321				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr8:55372456T>C	AB073988	CCDS6159.1	8q11.23	2014-09-04			ENSG00000164736	ENSG00000164736		"""SRY (sex determining region Y)-boxes"""	18122	protein-coding gene	gene with protein product		610928				11786926	Standard	NM_022454		Approved		uc003xsb.4	Q9H6I2	OTTHUMG00000164377	ENST00000297316.4:c.1146T>C	8.37:g.55372456T>C							p.H382H	NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)		2	1350	+		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	382			Sox C-terminal.			Silent	SNP	ENST00000297316.4	37	c.1146T>C	CCDS6159.1																																																																																				PASS	0.612	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378526.2			5	20	5	20	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55541069	55541069	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr8:55541069G>C	ENST00000220676.1	+	4	4775	c.4627G>C	c.(4627-4629)Gat>Cat	p.D1543H		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1543					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.D1543H(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTTTTGCTATGATTCTAAGCA	0.333																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(4627-4629)GAT>CAT		retinitis pigmentosa RP1 protein							44.0	46.0	45.0					8																	55541069		2201	4300	6501	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541069G>C	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4627G>C	8.37:g.55541069G>C	ENSP00000220676:p.Asp1543His					RP1_uc011ldy.1_Intron	p.D1543H	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	4775	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1543						Missense_Mutation	SNP	ENST00000220676.1	37	c.4627G>C	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892070	0.52014	.	.	ENSG00000104237	ENST00000220676	T	0.69040	-0.37	5.75	5.75	0.90469	.	0.000000	0.51477	D	0.000093	T	0.77032	0.4071	M	0.68952	2.095	0.36408	D	0.863547	D	0.71674	0.998	P	0.60173	0.87	T	0.82908	-0.0224	10	0.87932	D	0	-15.4186	13.1763	0.59629	0.0727:0.0:0.9273:0.0	.	1543	P56715	RP1_HUMAN	H	1543	ENSP00000220676:D1543H	ENSP00000220676:D1543H	D	+	1	0	RP1	55703622	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	6.186000	0.72026	2.713000	0.92767	0.655000	0.94253	GAT		PASS	0.333	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		11	31	11	31	---	---	---	---
YTHDF3	253943	broad.mit.edu	37	8	64099372	64099372	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr8:64099372C>T	ENST00000539294.1	+	4	1116	c.800C>T	c.(799-801)cCt>cTt	p.P267L	YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000542911.2_Missense_Mutation_p.P78L	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	268							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			GTACCACCACCTCCTATAAAA	0.488																																						uc003xuy.2																			0					0						c.(802-804)CCT>CTT		YTH domain family, member 3							91.0	91.0	91.0					8																	64099372		1925	4128	6053	SO:0001583	missense	253943							g.chr8:64099372C>T	BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"""YTH domain family 3"""			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000539294.1:c.800C>T	8.37:g.64099372C>T	ENSP00000473496:p.Pro267Leu					YTHDF3_uc010lys.2_Missense_Mutation_p.P212L|YTHDF3_uc003xuz.2_Missense_Mutation_p.P212L|YTHDF3_uc003xva.2_Missense_Mutation_p.P212L|YTHDF3_uc011len.1_Missense_Mutation_p.P212L	p.P268L	NM_152758	NP_689971	Q7Z739	YTHD3_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		5	1119	+	Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	268					B3KXL4|Q63Z37|Q659A3	Missense_Mutation	SNP	ENST00000539294.1	37	c.803C>T																																																																																					PASS	0.488	YTHDF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152758		20	84	20	84	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77776502	77776502	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr8:77776502C>T	ENST00000521891.2	+	11	11000	c.10552C>T	c.(10552-10554)Ctt>Ttt	p.L3518F	ZFHX4_ENST00000455469.2_Missense_Mutation_p.L3473F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L3492F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L3469F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3469	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.L3502F(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTATCCTCATCTTTCTTGCTT	0.483										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(10417-10419)CTT>TTT		zinc finger homeodomain 4							101.0	102.0	102.0					8																	77776502		2069	4227	6296	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77776502C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.10552C>T	8.37:g.77776502C>T	ENSP00000430497:p.Leu3518Phe	HNSCC(33;0.089)					p.L3473F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		11	10804	+			3469			Ser-rich.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.10417C>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742879	0.49151	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.51325	0.71;0.76;0.72;0.72	4.66	4.66	0.58398	.	0.000000	0.40064	U	0.001182	T	0.64216	0.2578	L	0.57536	1.79	0.58432	D	0.999999	D	0.71674	0.998	D	0.64877	0.93	T	0.67078	-0.5761	10	0.59425	D	0.04	.	17.748	0.88426	0.0:1.0:0.0:0.0	.	3473	Q86UP3-4	.	F	3518;3502;3473;3469;3492	ENSP00000430497:L3518F;ENSP00000399605:L3473F;ENSP00000050961:L3469F;ENSP00000430848:L3492F	ENSP00000050961:L3469F	L	+	1	0	ZFHX4	77939057	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.605000	0.82844	2.435000	0.82474	0.650000	0.86243	CTT		PASS	0.483	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		23	51	23	51	---	---	---	---
CNBD1	168975	broad.mit.edu	37	8	88365862	88365862	+	Splice_Site	SNP	A	A	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr8:88365862A>T	ENST00000518476.1	+	10	1203		c.e10-1			NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1									p.?(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TTTTTTTAACAGAAAAGATCT	0.318																																						uc003ydy.2																			2	Unknown(2)		lung(2)	ovary(3)	3						c.e10-2		cyclic nucleotide binding domain containing 1							48.0	48.0	48.0					8																	88365862		1795	4061	5856	SO:0001630	splice_region_variant	168975							g.chr8:88365862A>T	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.1153-1A>T	8.37:g.88365862A>T							p.K385_splice	NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN			10	1201	+									Splice_Site	SNP	ENST00000518476.1	37	c.1153_splice	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	A	9.065	0.995360	0.19043	.	.	ENSG00000176571	ENST00000518476;ENST00000523299;ENST00000521593	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1056	0.48201	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNBD1	88434978	1.000000	0.71417	0.980000	0.43619	0.110000	0.19582	2.883000	0.48554	1.880000	0.54463	0.454000	0.30748	.		PASS	0.318	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538	Intron	8	24	8	24	---	---	---	---
SMARCA2	6595	broad.mit.edu	37	9	2116022	2116022	+	Silent	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr9:2116022C>T	ENST00000382203.1	+	25	3866	c.3657C>T	c.(3655-3657)gcC>gcT	p.A1219A	SMARCA2_ENST00000349721.2_Silent_p.A1219A|SMARCA2_ENST00000382194.1_Silent_p.A1219A|SMARCA2_ENST00000357248.2_Silent_p.A1219A			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1219					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|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)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.A1215A(1)|p.A1219A(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TCCTGCAGGCCATCTTGGAGC	0.478											OREG0019074	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003zhc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(3655-3657)GCC>GCT		SWI/SNF-related matrix-associated							34.0	36.0	35.0					9																	2116022		2203	4300	6503	SO:0001819	synonymous_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2116022C>T	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3657C>T	9.37:g.2116022C>T			OREG0019074	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	601	SMARCA2_uc003zhd.2_Silent_p.A1219A|SMARCA2_uc010mha.2_Silent_p.A1152A	p.A1219A	NM_003070	NP_003061	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	25	3756	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	1219					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	c.3657C>T	CCDS34977.1																																																																																				PASS	0.478	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		6	30	6	30	---	---	---	---
RIC1	57589	broad.mit.edu	37	9	5753220	5753220	+	Missense_Mutation	SNP	G	G	T	rs576723207		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr9:5753220G>T	ENST00000414202.2	+	13	1664	c.1473G>T	c.(1471-1473)gaG>gaT	p.E491D	KIAA1432_ENST00000251879.6_Missense_Mutation_p.E491D|KIAA1432_ENST00000381532.2_Missense_Mutation_p.E412D|KIAA1432_ENST00000418622.3_Missense_Mutation_p.E412D|KIAA1432_ENST00000449720.2_Missense_Mutation_p.E412D	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2												p.E412D(1)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CCTATCTAGAGAGCAATTGGC	0.363																																						uc003zji.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1234-1236)GAG>GAT		connexin 43-interacting protein 150 isoform a							206.0	201.0	203.0					9																	5753220		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5753220G>T																												ENST00000414202.2:c.1473G>T	9.37:g.5753220G>T	ENSP00000416696:p.Glu491Asp					KIAA1432_uc003zjh.2_Missense_Mutation_p.E412D|KIAA1432_uc003zjl.3_Missense_Mutation_p.E412D|KIAA1432_uc003zjj.1_Intron	p.E412D	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	12	1329	+		Acute lymphoblastic leukemia(23;0.154)	491						Missense_Mutation	SNP	ENST00000414202.2	37	c.1236G>T	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.85|10.85	1.467377|1.467377	0.26335|0.26335	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720|ENST00000545641	T;T;T;T|.	0.41065|.	1.01;1.01;1.01;1.01|.	5.78|5.78	2.65|2.65	0.31530|0.31530	.|.	0.104525|0.104525	0.64402|0.64402	D|D	0.000004|0.000004	T|.	0.51890|.	0.1701|.	L|L	0.55481|0.55481	1.735|1.735	0.40308|0.40308	D|D	0.978683|0.978683	P;P;B|.	0.40144|.	0.651;0.704;0.023|.	B;B;B|.	0.24394|.	0.039;0.053;0.007|.	T|.	0.41288|.	-0.9517|.	10|.	0.15066|0.06494	T|T	0.55|0.89	-16.9201|-16.9201	10.7049|10.7049	0.45950|0.45950	0.265:0.0:0.735:0.0|0.265:0.0:0.735:0.0	.|.	412;491;491|.	B7ZM67;Q4ADV7;G5E932|.	.;RIC1_HUMAN;.|.	D|X	491;491;412;412;412|420	ENSP00000251879:E491D;ENSP00000416696:E491D;ENSP00000370943:E412D;ENSP00000402240:E412D|.	ENSP00000251879:E491D|ENSP00000439488:E420X	E|E	+|+	3|1	2|0	KIAA1432|KIAA1432	5743220|5743220	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.175000|4.175000	0.58263|0.58263	0.252000|0.252000	0.21531|0.21531	0.655000|0.655000	0.94253|0.94253	GAG|GAG		PASS	0.363	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			28	32	28	32	---	---	---	---
C9orf85	138241	broad.mit.edu	37	9	74526683	74526683	+	Silent	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr9:74526683C>A	ENST00000377031.3	+	1	223	c.33C>A	c.(31-33)tcC>tcA	p.S11S	ABHD17B_ENST00000333421.6_5'Flank|C9orf85_ENST00000334731.2_Silent_p.S11S|C9orf85_ENST00000486911.2_Silent_p.S11S|ABHD17B_ENST00000377041.2_5'Flank			Q96MD7	CI085_HUMAN	chromosome 9 open reading frame 85	11								p.S11S(2)		kidney(2)|large_intestine(1)|lung(4)	7						TGGCTCGTTCCAGACCTCAGA	0.507																																						uc004ain.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(31-33)TCC>TCA		hypothetical protein LOC138241							175.0	174.0	174.0					9																	74526683		2203	4300	6503	SO:0001819	synonymous_variant	138241							g.chr9:74526683C>A	BC010179	CCDS6639.1	9q21.2	2012-03-16			ENSG00000155621	ENSG00000155621			28784	protein-coding gene	gene with protein product						12477932	Standard	NM_182505		Approved	MGC61599	uc004ain.3	Q96MD7	OTTHUMG00000020002	ENST00000377031.3:c.33C>A	9.37:g.74526683C>A						C9orf85_uc004aio.2_RNA|C9orf85_uc010mou.2_RNA|C9orf85_uc010mov.2_RNA|FAM108B1_uc004ail.2_5'Flank|FAM108B1_uc004aim.1_5'Flank	p.S11S	NM_182505	NP_872311	Q96MD7	CI085_HUMAN			1	261	+			11					Q5W0N1|Q5W0N3|Q6PJW9|Q86U95	Silent	SNP	ENST00000377031.3	37	c.33C>A																																																																																					PASS	0.507	C9orf85-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052628.2	NM_182505		6	202	6	202	---	---	---	---
SHC3	53358	broad.mit.edu	37	9	91661806	91661806	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr9:91661806G>A	ENST00000375835.4	-	8	1372	c.1066C>T	c.(1066-1068)Ctt>Ttt	p.L356F	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	356	CH1.				central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|insulin receptor signaling pathway (GO:0008286)|learning or memory (GO:0007611)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	signal transducer activity (GO:0004871)	p.L356F(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						CTAGTATCAAGAAAGCCCCCT	0.488																																						uc004aqg.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|skin(1)	4						c.(1066-1068)CTT>TTT		src homology 2 domain-containing transforming							121.0	113.0	115.0					9																	91661806		2203	4300	6503	SO:0001583	missense	53358				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity	g.chr9:91661806G>A	D84361	CCDS6681.1	9q22.1	2013-02-14	2005-05-24		ENSG00000148082	ENSG00000148082		"""SH2 domain containing"""	18181	protein-coding gene	gene with protein product		605263	"""src homology 2 domain containing transforming protein C3"""			8808684	Standard	NM_016848		Approved	N-Shc, NSHC, SHCC	uc004aqf.2	Q92529	OTTHUMG00000020179	ENST00000375835.4:c.1066C>T	9.37:g.91661806G>A	ENSP00000364995:p.Leu356Phe						p.L356F	NM_016848	NP_058544	Q92529	SHC3_HUMAN			8	1373	-			356			CH1.		Q5T7I7|Q8TAP2|Q9UCX5	Missense_Mutation	SNP	ENST00000375835.4	37	c.1066C>T	CCDS6681.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369752	0.24771	.	.	ENSG00000148082	ENST00000375835	T	0.29655	1.56	5.34	3.47	0.39725	.	0.572876	0.17923	N	0.157425	T	0.13670	0.0331	N	0.08118	0	0.19945	N	0.999945	B	0.02656	0.0	B	0.04013	0.001	T	0.09357	-1.0678	10	0.45353	T	0.12	-11.0084	4.2206	0.10556	0.081:0.2855:0.4413:0.1922	.	356	Q92529	SHC3_HUMAN	F	356	ENSP00000364995:L356F	ENSP00000364995:L356F	L	-	1	0	SHC3	90851626	0.989000	0.36119	0.791000	0.31998	0.811000	0.45836	1.307000	0.33516	1.480000	0.48289	0.655000	0.94253	CTT		PASS	0.488	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052986.1	NM_016848		17	60	17	60	---	---	---	---
SPTLC1	10558	broad.mit.edu	37	9	94812283	94812283	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr9:94812283C>A	ENST00000262554.2	-	9	852	c.847G>T	c.(847-849)Gga>Tga	p.G283*		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	283					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)	p.G283*(1)		breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	CCATGCTCTCCTAGGACTCCA	0.368																																						uc004arl.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|breast(1)	2						c.(847-849)GGA>TGA		serine palmitoyltransferase subunit 1 isoform a	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						159.0	150.0	153.0					9																	94812283		2203	4300	6503	SO:0001587	stop_gained	10558					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr9:94812283C>A	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.847G>T	9.37:g.94812283C>A	ENSP00000262554:p.Gly283*					SPTLC1_uc011ltv.1_Nonsense_Mutation_p.G283*	p.G283*	NM_006415	NP_006406	O15269	SPTC1_HUMAN			9	885	-			283			Cytoplasmic (Potential).		A8K681|Q5VWB4|Q96IX6	Nonsense_Mutation	SNP	ENST00000262554.2	37	c.847G>T	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	C	36	5.741905	0.96873	.	.	ENSG00000090054	ENST00000262554	.	.	.	4.66	4.66	0.58398	.	0.109197	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.9882	17.7986	0.88579	0.0:1.0:0.0:0.0	.	.	.	.	X	283	.	ENSP00000262554:G283X	G	-	1	0	SPTLC1	93852104	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	7.407000	0.80029	2.411000	0.81874	0.551000	0.68910	GGA		PASS	0.368	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415		5	113	5	113	---	---	---	---
ZNF367	195828	broad.mit.edu	37	9	99160542	99160542	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr9:99160542C>T	ENST00000375256.4	-	2	771	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	159					regulation of transcription from RNA polymerase II promoter (GO:0006357)|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.E159K(1)		cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				TGCTCTCCTTCATTTATTAAA	0.403																																						uc004awf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(475-477)GAA>AAA		zinc finger protein 367							173.0	172.0	172.0					9																	99160542		2203	4300	6503	SO:0001583	missense	195828				regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:99160542C>T	AK091289	CCDS6718.1	9q22	2008-05-02			ENSG00000165244	ENSG00000165244		"""Zinc fingers, C2H2-type"""	18320	protein-coding gene	gene with protein product		610160					Standard	NM_153695		Approved	FLJ33970	uc004awf.3	Q7RTV3	OTTHUMG00000020295	ENST00000375256.4:c.475G>A	9.37:g.99160542C>T	ENSP00000364405:p.Glu159Lys					ZNF367_uc004awg.2_Missense_Mutation_p.E159K	p.E159K	NM_153695	NP_710162	Q7RTV3	ZN367_HUMAN			2	830	-		Acute lymphoblastic leukemia(62;0.0167)	159					Q6Q7C8	Missense_Mutation	SNP	ENST00000375256.4	37	c.475G>A	CCDS6718.1	.	.	.	.	.	.	.	.	.	.	C	36	5.761759	0.96906	.	.	ENSG00000165244	ENST00000375256	T	0.05649	3.41	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.23133	0.0559	L	0.60455	1.87	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.985	T	0.00030	-1.2284	10	0.38643	T	0.18	-16.6047	19.6745	0.95926	0.0:1.0:0.0:0.0	.	159;159	Q7RTV3-2;Q7RTV3	.;ZN367_HUMAN	K	159	ENSP00000364405:E159K	ENSP00000364405:E159K	E	-	1	0	ZNF367	98200363	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.222000	0.78025	2.880000	0.98712	0.650000	0.86243	GAA		PASS	0.403	ZNF367-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053266.1			25	92	25	92	---	---	---	---
PAPPA	5069	broad.mit.edu	37	9	119109373	119109373	+	Silent	SNP	C	C	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr9:119109373C>G	ENST00000328252.3	+	15	4218	c.3849C>G	c.(3847-3849)gtC>gtG	p.V1283V	PAPPA_ENST00000534838.1_Silent_p.V321V	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1283	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V1283V(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTGAGCCAGTCGACTGCAGCA	0.572																																						uc004bjn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(4)|pancreas(1)	9						c.(3847-3849)GTC>GTG		pregnancy-associated plasma protein A							157.0	113.0	128.0					9																	119109373		2203	4300	6503	SO:0001819	synonymous_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119109373C>G		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3849C>G	9.37:g.119109373C>G						PAPPA_uc011lxq.1_Silent_p.V658V	p.V1283V	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			15	4230	+			1283			Sushi 2.		B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	c.3849C>G	CCDS6813.1																																																																																				PASS	0.572	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		15	33	15	33	---	---	---	---
BRINP1	1620	broad.mit.edu	37	9	122075433	122075433	+	Silent	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr9:122075433G>T	ENST00000265922.3	-	2	662	c.201C>A	c.(199-201)acC>acA	p.T67T	BRINP1_ENST00000373964.2_Silent_p.T67T	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	67					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.T67T(1)									TTTTATATCTGGTTGTAAATC	0.448																																						uc004bkc.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						c.(199-201)ACC>ACA		deleted in bladder cancer 1 precursor							62.0	60.0	61.0					9																	122075433		2203	4300	6503	SO:0001819	synonymous_variant	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:122075433G>T	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.201C>A	9.37:g.122075433G>T						DBC1_uc004bkd.2_Silent_p.T67T	p.T67T	NM_014618	NP_055433	O60477	DBC1_HUMAN			2	657	-			67					Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	ENST00000265922.3	37	c.201C>A	CCDS6822.1																																																																																				PASS	0.448	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		9	30	9	30	---	---	---	---
SPTAN1	6709	broad.mit.edu	37	9	131345357	131345357	+	Splice_Site	SNP	A	A	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr9:131345357A>G	ENST00000372731.4	+	15	1918	c.1808A>G	c.(1807-1809)gAt>gGt	p.D603G	SPTAN1_ENST00000358161.5_Splice_Site_p.D603G|SPTAN1_ENST00000372739.3_Splice_Site_p.D603G	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	603					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.D603G(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TATTCACAGGATCCATCCAAC	0.433																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3																			1	Substitution - Missense(1)		lung(1)	breast(5)|ovary(4)|pancreas(1)	10						c.(1807-1809)GAT>GGT		spectrin, alpha, non-erythrocytic 1							49.0	51.0	50.0					9																	131345357		2203	4300	6503	SO:0001630	splice_region_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131345357A>G	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.1807-1A>G	9.37:g.131345357A>G						SPTAN1_uc011mbg.1_Missense_Mutation_p.D603G|SPTAN1_uc011mbh.1_Missense_Mutation_p.D615G|SPTAN1_uc004bvm.3_Missense_Mutation_p.D603G|SPTAN1_uc004bvn.3_Missense_Mutation_p.D603G	p.D603G	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			15	1921	+			603			Spectrin 7.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.1808A>G	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.238561	0.79800	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.48522	0.81;0.81;0.81	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.70945	0.3282	M	0.81682	2.555	0.80722	D	1	D;D;D;B;D	0.89917	1.0;0.997;1.0;0.244;1.0	D;D;D;B;D	0.97110	0.999;0.992;0.999;0.348;1.0	T	0.75207	-0.3399	10	0.87932	D	0	.	15.6048	0.76658	1.0:0.0:0.0:0.0	.	603;603;603;603;603	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	G	603	ENSP00000350882:D603G;ENSP00000361816:D603G;ENSP00000361824:D603G	ENSP00000350882:D603G	D	+	2	0	SPTAN1	130385178	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	8.962000	0.93254	2.279000	0.76181	0.533000	0.62120	GAT		PASS	0.433	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127	Missense_Mutation	12	33	12	33	---	---	---	---
TTF1	7270	broad.mit.edu	37	9	135273587	135273587	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr9:135273587G>T	ENST00000334270.2	-	4	1757	c.1718C>A	c.(1717-1719)cCt>cAt	p.P573H		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	573					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.P573H(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TTTTTCCTCAGGATATCTGTC	0.403																																						uc004cbl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(1717-1719)CCT>CAT		transcription termination factor, RNA polymerase							166.0	144.0	151.0					9																	135273587		2203	4300	6503	SO:0001583	missense	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135273587G>T	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1718C>A	9.37:g.135273587G>T	ENSP00000333920:p.Pro573His					TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Missense_Mutation_p.P58H	p.P573H	NM_007344	NP_031370	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	4	1770	-		Myeloproliferative disorder(178;0.204)	573					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	c.1718C>A	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448425	0.43429	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.12039	2.72	5.41	5.41	0.78517	.	0.170516	0.40064	N	0.001195	T	0.34890	0.0913	M	0.63843	1.955	0.41610	D	0.988903	D	0.89917	1.0	D	0.87578	0.998	T	0.02991	-1.1085	10	0.62326	D	0.03	.	14.7151	0.69262	0.0:0.0:1.0:0.0	.	573	Q15361	TTF1_HUMAN	H	573	ENSP00000333920:P573H	ENSP00000245588:P573H	P	-	2	0	TTF1	134263408	1.000000	0.71417	0.943000	0.38184	0.046000	0.14306	4.201000	0.58439	2.539000	0.85634	0.655000	0.94253	CCT		PASS	0.403	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		4	45	4	45	---	---	---	---
ADAMTS13	11093	broad.mit.edu	37	9	136319552	136319552	+	Silent	SNP	C	C	A	rs370359180		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr9:136319552C>A	ENST00000371929.3	+	24	3504	c.3060C>A	c.(3058-3060)tcC>tcA	p.S1020S	ADAMTS13_ENST00000355699.2_Silent_p.S1020S|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000356589.2_Silent_p.S989S|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000371910.1_5'Flank	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1020	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S1020S(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		AAGTCATGTCCCTTGGCCCAT	0.637																																						uc004cdv.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6						c.(3058-3060)TCC>TCA		ADAM metallopeptidase with thrombospondin type 1							107.0	89.0	95.0					9																	136319552		2203	4300	6503	SO:0001819	synonymous_variant	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136319552C>A	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.3060C>A	9.37:g.136319552C>A						ADAMTS13_uc004cdp.3_Silent_p.S247S|ADAMTS13_uc004cdt.1_Silent_p.S1020S|ADAMTS13_uc004cdu.1_Silent_p.S989S|ADAMTS13_uc004cdw.3_Silent_p.S1020S|ADAMTS13_uc004cdx.3_Silent_p.S989S|ADAMTS13_uc004cdz.3_Silent_p.S690S|ADAMTS13_uc004cea.1_5'Flank|ADAMTS13_uc004ceb.3_5'Flank	p.S1020S	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	24	3504	+			1020			TSP type-1 7.		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Silent	SNP	ENST00000371929.3	37	c.3060C>A	CCDS6970.1																																																																																				PASS	0.637	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		11	48	11	48	---	---	---	---
MLLT10	8028	broad.mit.edu	37	10	21959505	21959505	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr10:21959505C>G	ENST00000307729.7	+	10	1101	c.923C>G	c.(922-924)tCa>tGa	p.S308*	MLLT10_ENST00000377072.3_Nonsense_Mutation_p.S308*|MLLT10_ENST00000446906.2_Nonsense_Mutation_p.S308*|MLLT10_ENST00000377059.3_Nonsense_Mutation_p.S308*			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	308					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S308*(2)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						AAAGATGTTTCAGAGACTAGA	0.453			T	"""MLL, PICALM, CDK6"""	AL																																	uc001iqs.2				Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	MLL|PICALM|CDK6		AL		2	Substitution - Nonsense(2)		lung(2)	lung(1)|skin(1)	2						c.(922-924)TCA>TGA		myeloid/lymphoid or mixed-lineage leukemia							67.0	65.0	66.0					10																	21959505		2203	4300	6503	SO:0001587	stop_gained	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:21959505C>G	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.923C>G	10.37:g.21959505C>G	ENSP00000307411:p.Ser308*					MLLT10_uc001iqt.2_Nonsense_Mutation_p.S308*|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Nonsense_Mutation_p.S308*|MLLT10_uc001ira.2_5'UTR|MLLT10_uc001iqz.2_Nonsense_Mutation_p.S63*	p.S308*	NM_004641	NP_004632	P55197	AF10_HUMAN			10	1271	+			308					B1ANA8|Q5JT37|Q5VX90|Q66K63	Nonsense_Mutation	SNP	ENST00000307729.7	37	c.923C>G	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	C	40	8.045211	0.98627	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639	.	.	.	5.8	5.8	0.92144	.	0.779066	0.12225	N	0.487984	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	13.2811	0.60214	0.0:0.9278:0.0:0.0722	.	.	.	.	X	308;308;308;154;308;48;47	.	ENSP00000307411:S308X	S	+	2	0	MLLT10	21999511	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.563000	0.53784	2.741000	0.93983	0.655000	0.94253	TCA		PASS	0.453	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			14	32	14	32	---	---	---	---
C10orf67	256815	broad.mit.edu	37	10	23622020	23622020	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr10:23622020A>T	ENST00000323327.4	-	2	368	c.301T>A	c.(301-303)Ttg>Atg	p.L101M		NM_153714.2	NP_714925.2	Q8IYJ2	CJ067_HUMAN	chromosome 10 open reading frame 67	101								p.L101M(1)		central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5						GATGAACTCAATTCTTTTACT	0.343																																						uc010qcx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(301-303)TTG>ATG		hypothetical protein LOC256815							119.0	112.0	114.0					10																	23622020		1838	4082	5920	SO:0001583	missense	256815							g.chr10:23622020A>T	BC035732	CCDS44365.1	10p12.31	2012-05-31			ENSG00000179133	ENSG00000179133			28716	protein-coding gene	gene with protein product						12477932	Standard	NM_153714		Approved	MGC46732	uc010qcx.2	Q8IYJ2	OTTHUMG00000017818	ENST00000323327.4:c.301T>A	10.37:g.23622020A>T	ENSP00000321464:p.Leu101Met						p.L101M	NM_153714	NP_714925	Q8IYJ2	CJ067_HUMAN			2	367	-			101					A8MUP9|Q5SWD4	Missense_Mutation	SNP	ENST00000323327.4	37	c.301T>A	CCDS44365.1	.	.	.	.	.	.	.	.	.	.	A	11.47	1.649096	0.29336	.	.	ENSG00000179133	ENST00000376500;ENST00000323327	.	.	.	4.53	0.863	0.19062	.	0.139967	0.32314	N	0.006262	T	0.27798	0.0684	L	0.37750	1.13	0.09310	N	1	P	0.50943	0.94	P	0.47299	0.543	T	0.10753	-1.0616	9	0.32370	T	0.25	-13.4139	5.96	0.19295	0.625:0.0:0.375:0.0	.	101	Q8IYJ2	CJ067_HUMAN	M	51;101	.	ENSP00000321464:L101M	L	-	1	2	C10orf67	23662026	0.018000	0.18449	0.012000	0.15200	0.034000	0.12701	0.112000	0.15479	0.318000	0.23185	0.533000	0.62120	TTG		PASS	0.343	C10orf67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047213.1	NM_153714		5	17	5	17	---	---	---	---
ARID5B	84159	broad.mit.edu	37	10	63852295	63852295	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr10:63852295G>A	ENST00000279873.7	+	10	3483	c.3073G>A	c.(3073-3075)Ggg>Agg	p.G1025R	ARID5B_ENST00000309334.5_Missense_Mutation_p.G782R	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1025					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)	p.G1025R(1)		NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TGTGATTGCAGGGAAAAAGGC	0.597																																						uc001jlt.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						c.(3073-3075)GGG>AGG		AT rich interactive domain 5B (MRF1-like)							67.0	77.0	73.0					10																	63852295		2203	4300	6503	SO:0001583	missense	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63852295G>A	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.3073G>A	10.37:g.63852295G>A	ENSP00000279873:p.Gly1025Arg						p.G1025R	NM_032199	NP_115575	Q14865	ARI5B_HUMAN			10	3099	+	Prostate(12;0.016)|all_hematologic(501;0.215)		1025					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	c.3073G>A	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200291	0.58126	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.47869	0.83;0.83	5.72	5.72	0.89469	.	0.098018	0.64402	D	0.000001	T	0.50205	0.1602	M	0.62723	1.935	0.49687	D	0.999816	P	0.45902	0.868	B	0.39706	0.307	T	0.56786	-0.7921	10	0.62326	D	0.03	-17.7688	19.8646	0.96799	0.0:0.0:1.0:0.0	.	1025	Q14865	ARI5B_HUMAN	R	1025;782	ENSP00000279873:G1025R;ENSP00000308862:G782R	ENSP00000279873:G1025R	G	+	1	0	ARID5B	63522301	1.000000	0.71417	0.967000	0.41034	0.882000	0.50991	9.222000	0.95196	2.702000	0.92279	0.655000	0.94253	GGG		PASS	0.597	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		22	40	22	40	---	---	---	---
CDHR1	92211	broad.mit.edu	37	10	85972907	85972907	+	Missense_Mutation	SNP	G	G	A	rs144856473		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr10:85972907G>A	ENST00000372117.3	+	16	1946	c.1843G>A	c.(1843-1845)Gag>Aag	p.E615K	CDHR1_ENST00000332904.3_Missense_Mutation_p.E615K|CDHR1_ENST00000440770.2_Missense_Mutation_p.E319K	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	615	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)	p.E615K(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CACCCATGCAGAGCCCGCCAA	0.572																																						uc001kcv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1843-1845)GAG>AAG		protocadherin 21 precursor		G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	121.0	107.0	112.0		1843,1843	5.9	1.0	10	dbSNP_134	112	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	CDHR1	NM_001171971.1,NM_033100.2	56,56	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	615/746,615/860	85972907	2,13004	2203	4300	6503	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85972907G>A	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1843G>A	10.37:g.85972907G>A	ENSP00000361189:p.Glu615Lys					CDHR1_uc001kcw.2_Missense_Mutation_p.E615K|CDHR1_uc009xst.2_Missense_Mutation_p.E319K|CDHR1_uc001kcx.2_5'UTR	p.E615K	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN			16	1843	+			615			Cadherin 6.|Extracellular (Potential).		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.1843G>A	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440437	0.83993	0.0	2.33E-4	ENSG00000148600	ENST00000332904;ENST00000372117;ENST00000440770	T;T;T	0.53423	0.62;0.62;0.62	5.93	5.93	0.95920	Cadherin (4);Cadherin-like (1);	0.199139	0.52532	D	0.000071	T	0.57961	0.2089	L	0.55743	1.74	0.58432	D	0.99999	P;P;P	0.50819	0.939;0.692;0.931	P;B;P	0.54815	0.735;0.364;0.761	T	0.47058	-0.9146	10	0.24483	T	0.36	-28.6022	17.8347	0.88692	0.0:0.0:1.0:0.0	.	319;615;615	E7EN47;Q96JP9-2;Q96JP9	.;.;CDHR1_HUMAN	K	615;615;319	ENSP00000331063:E615K;ENSP00000361189:E615K;ENSP00000415980:E319K	ENSP00000331063:E615K	E	+	1	0	CDHR1	85962887	1.000000	0.71417	0.980000	0.43619	0.588000	0.36517	9.326000	0.96389	2.814000	0.96858	0.655000	0.94253	GAG		PASS	0.572	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		11	47	11	47	---	---	---	---
DNMBP	23268	broad.mit.edu	37	10	101636941	101636941	+	Silent	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr10:101636941G>A	ENST00000324109.4	-	17	4792	c.4701C>T	c.(4699-4701)ccC>ccT	p.P1567P	DNMBP_ENST00000342239.3_Silent_p.P1591P|DNMBP_ENST00000543621.1_Silent_p.P813P|DNMBP_ENST00000540316.1_Silent_p.P503P	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1567	SH3 6. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P1567P(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TATAATTGGAGGGAACGTAGC	0.522																																						uc001kqj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(1)	6						c.(4699-4701)CCC>CCT		dynamin binding protein							191.0	144.0	160.0					10																	101636941		2203	4300	6503	SO:0001819	synonymous_variant	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101636941G>A	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.4701C>T	10.37:g.101636941G>A						DNMBP_uc010qpl.1_Silent_p.P503P|DNMBP_uc001kqg.2_Silent_p.P855P|DNMBP_uc001kqh.2_Silent_p.P1199P	p.P1567P	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	17	4793	-		Colorectal(252;0.234)	1567			SH3 6.		Q8IVY3|Q9Y2L3	Silent	SNP	ENST00000324109.4	37	c.4701C>T	CCDS7485.1																																																																																				PASS	0.522	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		19	25	19	25	---	---	---	---
PPRC1	23082	broad.mit.edu	37	10	103901552	103901552	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr10:103901552C>T	ENST00000278070.2	+	5	3326	c.3287C>T	c.(3286-3288)gCa>gTa	p.A1096V	PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000413464.2_Missense_Mutation_p.A1096V|PPRC1_ENST00000370012.1_Missense_Mutation_p.A63V	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1096	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A1096V(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GAGGAGCCTGCATCAGAGAGG	0.577																																						uc001kum.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3286-3288)GCA>GTA		peroxisome proliferator-activated receptor							80.0	74.0	76.0					10																	103901552		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103901552C>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.3287C>T	10.37:g.103901552C>T	ENSP00000278070:p.Ala1096Val					PPRC1_uc001kun.2_Missense_Mutation_p.A976V|PPRC1_uc010qqj.1_Missense_Mutation_p.A1096V|PPRC1_uc009xxa.2_RNA	p.A1096V	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	5	3326	+		Colorectal(252;0.122)	1096			Pro-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.3287C>T	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.276415	0.23307	.	.	ENSG00000148840	ENST00000278070;ENST00000413464;ENST00000370012	T;T;T	0.33865	1.8;1.66;1.39	6.04	-7.36	0.01417	.	1.241700	0.05489	N	0.556308	T	0.14917	0.0360	N	0.17082	0.46	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.16719	-1.0393	10	0.22706	T	0.39	.	0.6015	0.00745	0.1933:0.2431:0.2243:0.3393	.	1096;976;1096	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	V	1096;1096;63	ENSP00000278070:A1096V;ENSP00000399743:A1096V;ENSP00000359029:A63V	ENSP00000278070:A1096V	A	+	2	0	PPRC1	103891542	0.000000	0.05858	0.001000	0.08648	0.054000	0.15201	-0.497000	0.06428	-0.947000	0.03673	0.563000	0.77884	GCA		PASS	0.577	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		8	11	8	11	---	---	---	---
SORCS1	114815	broad.mit.edu	37	10	108447979	108447979	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr10:108447979G>T	ENST00000263054.6	-	10	1538	c.1531C>A	c.(1531-1533)Cta>Ata	p.L511I	SORCS1_ENST00000344440.6_Missense_Mutation_p.L511I|SORCS1_ENST00000369698.1_Missense_Mutation_p.L46I	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	511					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.L511I(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCCCCCCTTAGATCCGTGTCC	0.483																																						uc001kym.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(1531-1533)CTA>ATA		SORCS receptor 1 isoform a							106.0	97.0	100.0					10																	108447979		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108447979G>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1531C>A	10.37:g.108447979G>T	ENSP00000263054:p.Leu511Ile					SORCS1_uc001kyl.2_Missense_Mutation_p.L511I|SORCS1_uc009xxs.2_Missense_Mutation_p.L511I|SORCS1_uc001kyn.1_Missense_Mutation_p.L511I|SORCS1_uc001kyo.2_Missense_Mutation_p.L511I	p.L511I	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	10	1539	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	511			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.1531C>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613454	0.87359	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.37235	1.21;1.21;1.21	6.17	4.21	0.49690	VPS10 (1);	0.000000	0.64402	D	0.000001	T	0.51822	0.1697	M	0.63428	1.95	0.44359	D	0.997254	D;D;D;D;D	0.60575	0.98;0.968;0.988;0.98;0.988	P;P;D;P;D	0.64410	0.844;0.885;0.925;0.844;0.925	T	0.47611	-0.9104	9	.	.	.	-7.3189	10.4961	0.44778	0.0732:0.0:0.7961:0.1307	.	511;511;511;511;511	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	I	46;511;511	ENSP00000358712:L46I;ENSP00000263054:L511I;ENSP00000345964:L511I	.	L	-	1	2	SORCS1	108437969	1.000000	0.71417	0.857000	0.33713	0.958000	0.62258	5.198000	0.65147	0.814000	0.34374	0.655000	0.94253	CTA		PASS	0.483	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		17	35	17	35	---	---	---	---
PLEKHS1	79949	broad.mit.edu	37	10	115534730	115534730	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr10:115534730C>A	ENST00000369310.3	+	9	1469	c.907C>A	c.(907-909)Cag>Aag	p.Q303K	PLEKHS1_ENST00000369309.1_Missense_Mutation_p.Q123K|PLEKHS1_ENST00000354462.3_Missense_Mutation_p.Q53K|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.Q221K|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.Q309K	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	303								p.Q221K(2)|p.Q309K(2)									TGTGGAAGCACAGACCACAAA	0.483																																						uc001lat.1																			4	Substitution - Missense(4)		lung(2)|prostate(2)	central_nervous_system(1)	1						c.(907-909)CAG>AAG		hypothetical protein LOC79949							86.0	74.0	78.0					10																	115534730		2203	4300	6503	SO:0001583	missense	79949							g.chr10:115534730C>A	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"""Pleckstrin homology (PH) domain containing"""	26285	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 81"""	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.907C>A	10.37:g.115534730C>A	ENSP00000358316:p.Gln303Lys					C10orf81_uc001lar.1_Missense_Mutation_p.Q309K|C10orf81_uc009xyc.1_Missense_Mutation_p.Q221K|C10orf81_uc001las.1_Missense_Mutation_p.Q221K|C10orf81_uc001lau.1_Missense_Mutation_p.Q123K	p.Q303K	NM_024889	NP_079165	Q5SXH7	CJ081_HUMAN		Epithelial(162;0.0181)|all cancers(201;0.0204)	9	1469	+		Colorectal(252;0.175)	303					A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Missense_Mutation	SNP	ENST00000369310.3	37	c.907C>A	CCDS53580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.354|0.354	-0.943175|-0.943175	0.02322|0.02322	.|.	.|.	ENSG00000148735|ENSG00000148735	ENST00000361048;ENST00000369312;ENST00000369310;ENST00000369309;ENST00000354462|ENST00000448805	T;T;T;T;T|.	0.29142|.	1.58;1.58;1.58;1.58;1.58|.	5.49|5.49	3.41|3.41	0.39046|0.39046	.|.	0.642198|.	0.15730|.	N|.	0.247455|.	T|T	0.37999|0.37999	0.1024|0.1024	L|L	0.43923|0.43923	1.385|1.385	0.09310|0.09310	N|N	1|1	B;B;B;P|.	0.36315|.	0.404;0.394;0.347;0.547|.	B;B;B;B|.	0.37989|.	0.172;0.12;0.12;0.262|.	T|T	0.21965|0.21965	-1.0230|-1.0230	10|5	0.25751|.	T|.	0.34|.	-6.1022|-6.1022	6.9725|6.9725	0.24656|0.24656	0.2497:0.5909:0.1594:0.0|0.2497:0.5909:0.1594:0.0	.|.	303;303;303;309|.	Q5SXH7;Q5SXH7-5;Q5SXH7-2;Q5SXH7-4|.	CJ081_HUMAN;.;.;.|.	K|K	309;221;303;123;53|19	ENSP00000354332:Q309K;ENSP00000358318:Q221K;ENSP00000358316:Q303K;ENSP00000358315:Q123K;ENSP00000346451:Q53K|.	ENSP00000346451:Q53K|.	Q|T	+|+	1|2	0|0	C10orf81|C10orf81	115524720|115524720	0.021000|0.021000	0.18746|0.18746	0.092000|0.092000	0.20876|0.20876	0.047000|0.047000	0.14425|0.14425	0.253000|0.253000	0.18296|0.18296	1.271000|1.271000	0.44313|0.44313	0.591000|0.591000	0.81541|0.81541	CAG|ACA		PASS	0.483	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050432.1	NM_024889		19	34	19	34	---	---	---	---
OAT	4942	broad.mit.edu	37	10	126094046	126094046	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr10:126094046C>A	ENST00000368845.5	-	5	699	c.607G>T	c.(607-609)Gga>Tga	p.G203*	OAT_ENST00000539214.1_Nonsense_Mutation_p.G65*|OAT_ENST00000467675.1_5'UTR	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	203					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-proline biosynthetic process (GO:0055129)|protein hexamerization (GO:0034214)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ornithine-oxo-acid transaminase activity (GO:0004587)|pyridoxal phosphate binding (GO:0030170)	p.G203*(1)		endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)	ATGTCGAATCCCGGCATAAAT	0.458																																						uc001lhp.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(607-609)GGA>TGA		ornithine aminotransferase precursor	L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)						113.0	94.0	100.0					10																	126094046		2203	4300	6503	SO:0001587	stop_gained	4942				cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding	g.chr10:126094046C>A	BC016928	CCDS7639.1, CCDS53586.1	10q26	2014-09-17	2010-01-20		ENSG00000065154	ENSG00000065154	2.6.1.13		8091	protein-coding gene	gene with protein product	"""Ornithine aminotransferase"", ""ornithine aminotransferase precursor"", ""gyrate atrophy"""	613349				1682785	Standard	NM_000274		Approved	HOGA	uc001lhp.3	P04181	OTTHUMG00000019213	ENST00000368845.5:c.607G>T	10.37:g.126094046C>A	ENSP00000357838:p.Gly203*					OAT_uc001lhq.2_RNA|OAT_uc001lhr.2_Nonsense_Mutation_p.G65*	p.G203*	NM_000274	NP_000265	P04181	OAT_HUMAN			5	714	-		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)	203					D3DRF0|Q16068|Q16069|Q68CS0|Q6IAV9|Q9UD03	Nonsense_Mutation	SNP	ENST00000368845.5	37	c.607G>T	CCDS7639.1	.	.	.	.	.	.	.	.	.	.	C	38	6.653436	0.97739	.	.	ENSG00000065154	ENST00000539214;ENST00000368845	.	.	.	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-14.4544	18.3773	0.90439	0.0:1.0:0.0:0.0	.	.	.	.	X	65;203	.	ENSP00000357838:G203X	G	-	1	0	OAT	126084036	1.000000	0.71417	0.432000	0.26747	0.391000	0.30476	7.406000	0.80017	2.518000	0.84900	0.563000	0.77884	GGA		PASS	0.458	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050863.1	NM_000274		13	34	13	34	---	---	---	---
STIM1	6786	broad.mit.edu	37	11	4104625	4104625	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr11:4104625C>G	ENST00000300737.4	+	10	1940	c.1371C>G	c.(1369-1371)gaC>gaG	p.D457E	STIM1_ENST00000533977.1_Missense_Mutation_p.D284E|STIM1_ENST00000527651.1_Missense_Mutation_p.D457E	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	457					activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)	p.D457E(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		TCAACATAGACCCCAGCTGGA	0.572																																						uc001lyv.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1369-1371)GAC>GAG		stromal interaction molecule 1 precursor							92.0	74.0	80.0					11																	4104625		2201	4298	6499	SO:0001583	missense	6786				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding	g.chr11:4104625C>G	BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"""Sterile alpha motif (SAM) domain containing"""	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.1371C>G	11.37:g.4104625C>G	ENSP00000300737:p.Asp457Glu					STIM1_uc009yef.2_Missense_Mutation_p.D457E|STIM1_uc009yeg.2_Missense_Mutation_p.D284E	p.D457E	NM_003156	NP_003147	Q13586	STIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)	10	1939	+		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)	457			Cytoplasmic (Potential).		E9PQJ4|Q8N382	Missense_Mutation	SNP	ENST00000300737.4	37	c.1371C>G	CCDS7749.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.61|15.61	2.884788|2.884788	0.51908|0.51908	.|.	.|.	ENSG00000167323|ENSG00000167323	ENST00000300737;ENST00000527651;ENST00000533977|ENST00000526596	T;T;T|.	0.78364|.	-0.23;-1.17;-0.22|.	5.69|5.69	1.14|1.14	0.20703|0.20703	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68833|0.68833	0.3044|0.3044	M|M	0.71036|0.71036	2.16|2.16	0.43308|0.43308	D|D	0.995313|0.995313	P;D|.	0.76494|.	0.952;0.999|.	P;D|.	0.78314|.	0.452;0.991|.	T|T	0.66964|0.66964	-0.5790|-0.5790	10|5	0.48119|.	T|.	0.1|.	-28.1696|-28.1696	11.6609|11.6609	0.51345|0.51345	0.0:0.7107:0.0:0.2893|0.0:0.7107:0.0:0.2893	.|.	457;457|.	E9PQJ4;Q13586|.	.;STIM1_HUMAN|.	E|S	457;457;284|188	ENSP00000300737:D457E;ENSP00000436208:D457E;ENSP00000434767:D284E|.	ENSP00000300737:D457E|.	D|T	+|+	3|2	2|0	STIM1|STIM1	4061201|4061201	0.991000|0.991000	0.36638|0.36638	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.379000|0.379000	0.20585|0.20585	0.342000|0.342000	0.23796|0.23796	0.557000|0.557000	0.71058|0.71058	GAC|ACC		PASS	0.572	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257196.1	NM_003156		10	38	10	38	---	---	---	---
TRIM68	55128	broad.mit.edu	37	11	4621770	4621770	+	Silent	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr11:4621770C>T	ENST00000300747.5	-	7	1483	c.1194G>A	c.(1192-1194)ctG>ctA	p.L398L		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	398	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L398L(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTCCCTTCCTCAGCCTTATCA	0.557																																						uc001lzf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1192-1194)CTG>CTA		ring finger protein 137							85.0	75.0	78.0					11																	4621770		2201	4298	6499	SO:0001819	synonymous_variant	55128				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4621770C>T	AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.1194G>A	11.37:g.4621770C>T						TRIM68_uc001lzg.1_Silent_p.L175L|TRIM68_uc010qyj.1_RNA	p.L398L	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	7	1432	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	398			B30.2/SPRY.		A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Silent	SNP	ENST00000300747.5	37	c.1194G>A	CCDS31356.1																																																																																				PASS	0.557	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		13	52	13	52	---	---	---	---
OR51L1	119682	broad.mit.edu	37	11	5021116	5021116	+	Missense_Mutation	SNP	C	C	T	rs139272622	byFrequency	TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr11:5021116C>T	ENST00000321543.1	+	1	904	c.904C>T	c.(904-906)Cgt>Tgt	p.R302C		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R302C(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGCAGATTCGTCTAGGAAT	0.433													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19620	0.0		0.001	False		,,,				2504	0.0					uc010qyu.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(904-906)CGT>TGT		olfactory receptor, family 51, subfamily L,		C	CYS/ARG	2,4400	4.2+/-10.8	0,2,2199	87.0	81.0	83.0		904	5.4	0.8	11	dbSNP_134	83	2,8594	2.2+/-6.3	0,2,4296	yes	missense	OR51L1	NM_001004755.1	180	0,4,6495	TT,TC,CC		0.0233,0.0454,0.0308	probably-damaging	302/316	5021116	4,12994	2201	4298	6499	SO:0001583	missense	119682				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5021116C>T	AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.904C>T	11.37:g.5021116C>T	ENSP00000322156:p.Arg302Cys						p.R302C	NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	904	+		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	302			Cytoplasmic (Potential).		Q6IFE5	Missense_Mutation	SNP	ENST00000321543.1	37	c.904C>T	CCDS31369.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	13.59	2.283383	0.40394	4.54E-4	2.33E-4	ENSG00000176798	ENST00000321543	T	0.58358	0.34	5.43	5.43	0.79202	.	0.000000	0.43110	D	0.000620	T	0.72061	0.3414	M	0.92317	3.295	0.31944	N	0.61053	D	0.62365	0.991	P	0.50231	0.635	T	0.82255	-0.0548	10	0.72032	D	0.01	.	17.9684	0.89105	0.0:1.0:0.0:0.0	.	302	Q8NGJ5	O51L1_HUMAN	C	302	ENSP00000322156:R302C	ENSP00000322156:R302C	R	+	1	0	OR51L1	4977692	0.006000	0.16342	0.784000	0.31847	0.429000	0.31625	0.841000	0.27613	2.822000	0.97130	0.650000	0.86243	CGT		PASS	0.433	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755		6	47	6	47	---	---	---	---
HPX	3263	broad.mit.edu	37	11	6453010	6453010	+	Silent	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr11:6453010C>A	ENST00000265983.3	-	9	1090	c.990G>T	c.(988-990)ctG>ctT	p.L330L		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	330					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)	p.L330L(1)		endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		CTCCCTTTGTCAGGAAGACAT	0.522																																						uc001mdg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(988-990)CTG>CTT		hemopexin precursor							132.0	140.0	137.0					11																	6453010		2201	4296	6497	SO:0001819	synonymous_variant	3263				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding	g.chr11:6453010C>A	J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.990G>T	11.37:g.6453010C>A						HPX_uc001mdf.2_Silent_p.L76L|HPX_uc009yfc.2_RNA	p.L330L	NM_000613	NP_000604	P02790	HEMO_HUMAN		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)	9	1051	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	330			Hemopexin-like 5.		B2R957	Silent	SNP	ENST00000265983.3	37	c.990G>T	CCDS7763.1																																																																																				PASS	0.522	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257256.1	NM_000613		7	119	7	119	---	---	---	---
SCUBE2	57758	broad.mit.edu	37	11	9111341	9111341	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr11:9111341G>T	ENST00000309263.3	-	2	241	c.169C>A	c.(169-171)Cat>Aat	p.H57N	SCUBE2_ENST00000450649.2_Missense_Mutation_p.H57N|MIR5691_ENST00000579525.1_RNA|SCUBE2_ENST00000520467.1_Missense_Mutation_p.H57N|SCUBE2_ENST00000457346.2_Missense_Mutation_p.H57N|SCUBE2_ENST00000534295.1_5'UTR			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	57	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.H57N(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GCGTCGGCATGGCAGTCATCT	0.592																																						uc001mhh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(169-171)CAT>AAT		CEGP1 protein precursor							249.0	196.0	214.0					11																	9111341		2201	4296	6497	SO:0001583	missense	57758					extracellular region	calcium ion binding	g.chr11:9111341G>T	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.169C>A	11.37:g.9111341G>T	ENSP00000310658:p.His57Asn					SCUBE2_uc001mhi.1_Missense_Mutation_p.H57N|SCUBE2_uc001mhj.1_Missense_Mutation_p.H57N	p.H57N	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	2	249	-			57			EGF-like 1; calcium-binding (Potential).		Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37	c.169C>A		.	.	.	.	.	.	.	.	.	.	G	19.83	3.900673	0.72754	.	.	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92	4.83	4.83	0.62350	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.156238	0.56097	D	0.000029	D	0.95322	0.8482	M	0.63428	1.95	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.91635	0.998;0.956;0.999	D	0.95684	0.8734	10	0.72032	D	0.01	.	17.7067	0.88310	0.0:0.0:1.0:0.0	.	57;57;57	Q9NQ36-3;Q9NQ36-2;Q9NQ36	.;.;SCUB2_HUMAN	N	57	ENSP00000390481:H57N;ENSP00000310658:H57N;ENSP00000415187:H57N;ENSP00000429969:H57N	ENSP00000310658:H57N	H	-	1	0	SCUBE2	9067917	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.931000	0.63469	2.496000	0.84212	0.557000	0.71058	CAT		PASS	0.592	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		6	91	6	91	---	---	---	---
NUCB2	4925	broad.mit.edu	37	11	17332502	17332502	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr11:17332502C>T	ENST00000529010.1	+	7	833	c.614C>T	c.(613-615)tCt>tTt	p.S205F	NUCB2_ENST00000458064.2_Missense_Mutation_p.S205F|NUCB2_ENST00000323688.6_Missense_Mutation_p.S205F	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	205						cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)	p.S205F(1)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GAAGAAGAGTCTAAATTTGAA	0.279																																						uc001mmw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(613-615)TCT>TTT		nucleobindin 2 precursor							73.0	75.0	74.0					11																	17332502		1795	4045	5840	SO:0001583	missense	4925					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding	g.chr11:17332502C>T	AF052642	CCDS41623.1	11p15.1	2013-01-10						"""EF-hand domain containing"""	8044	protein-coding gene	gene with protein product		608020				7811391	Standard	NM_005013		Approved	NEFA	uc001mmw.3	P80303		ENST00000529010.1:c.614C>T	11.37:g.17332502C>T	ENSP00000436455:p.Ser205Phe					NUCB2_uc001mms.1_Missense_Mutation_p.S206F|NUCB2_uc001mmt.1_Missense_Mutation_p.S205F|NUCB2_uc001mmv.1_Missense_Mutation_p.S205F|NUCB2_uc009ygz.2_Missense_Mutation_p.S205F	p.S205F	NM_005013	NP_005004	P80303	NUCB2_HUMAN			7	859	+			205			By similarity.		A8K642|D3DQX5|Q8NFT5	Missense_Mutation	SNP	ENST00000529010.1	37	c.614C>T	CCDS41623.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135137	0.77662	.	.	ENSG00000070081	ENST00000323688;ENST00000529010;ENST00000458064	T;T;T	0.18502	2.21;2.21;2.21	5.93	4.89	0.63831	.	0.446073	0.25961	N	0.027181	T	0.17066	0.0410	L	0.29908	0.895	0.47621	D	0.999479	P;P;P	0.43477	0.771;0.808;0.537	B;P;P	0.47162	0.404;0.54;0.54	T	0.02075	-1.1218	10	0.72032	D	0.01	0.0404	7.8235	0.29300	0.151:0.7526:0.0:0.0964	.	205;205;205	E7EV42;P80303;D3DQX5	.;NUCB2_HUMAN;.	F	205	ENSP00000320168:S205F;ENSP00000436455:S205F;ENSP00000408702:S205F	ENSP00000320168:S205F	S	+	2	0	NUCB2	17289078	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	5.138000	0.64795	1.247000	0.43917	0.655000	0.94253	TCT		PASS	0.279	NUCB2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387614.2	NM_005013		6	65	6	65	---	---	---	---
NUCB2	4925	broad.mit.edu	37	11	17332538	17332538	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr11:17332538A>C	ENST00000529010.1	+	7	869	c.650A>C	c.(649-651)cAc>cCc	p.H217P	NUCB2_ENST00000458064.2_Missense_Mutation_p.H217P|NUCB2_ENST00000323688.6_Missense_Mutation_p.H217P	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	217	Binds to necdin. {ECO:0000250}.					cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)	p.H217P(1)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						CATGAAAATCACCCTAAAGTT	0.294																																						uc001mmw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(649-651)CAC>CCC		nucleobindin 2 precursor							75.0	76.0	76.0					11																	17332538		1797	4061	5858	SO:0001583	missense	4925					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding	g.chr11:17332538A>C	AF052642	CCDS41623.1	11p15.1	2013-01-10						"""EF-hand domain containing"""	8044	protein-coding gene	gene with protein product		608020				7811391	Standard	NM_005013		Approved	NEFA	uc001mmw.3	P80303		ENST00000529010.1:c.650A>C	11.37:g.17332538A>C	ENSP00000436455:p.His217Pro					NUCB2_uc001mms.1_Missense_Mutation_p.H218P|NUCB2_uc001mmt.1_Missense_Mutation_p.H217P|NUCB2_uc001mmv.1_Missense_Mutation_p.H217P|NUCB2_uc009ygz.2_Missense_Mutation_p.H217P	p.H217P	NM_005013	NP_005004	P80303	NUCB2_HUMAN			7	895	+			217			By similarity.|Binds to necdin (By similarity).		A8K642|D3DQX5|Q8NFT5	Missense_Mutation	SNP	ENST00000529010.1	37	c.650A>C	CCDS41623.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.500904	0.85176	.	.	ENSG00000070081	ENST00000323688;ENST00000529010;ENST00000458064	T;T;T	0.28895	1.67;1.67;1.59	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.60314	0.2259	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.992;0.993;0.993	T	0.66031	-0.6024	10	0.87932	D	0	-16.224	16.3721	0.83368	1.0:0.0:0.0:0.0	.	217;217;217	E7EV42;P80303;D3DQX5	.;NUCB2_HUMAN;.	P	217	ENSP00000320168:H217P;ENSP00000436455:H217P;ENSP00000408702:H217P	ENSP00000320168:H217P	H	+	2	0	NUCB2	17289114	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.212000	0.95126	2.257000	0.74773	0.533000	0.62120	CAC		PASS	0.294	NUCB2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387614.2	NM_005013		9	67	9	67	---	---	---	---
QSER1	79832	broad.mit.edu	37	11	32975556	32975556	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr11:32975556C>G	ENST00000399302.2	+	5	4279	c.3944C>G	c.(3943-3945)tCa>tGa	p.S1315*	QSER1_ENST00000527788.1_Nonsense_Mutation_p.S1076*	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1315								p.S1315*(1)		breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCAGAATCCTCAAAGCCCATT	0.428																																						uc001mty.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(3943-3945)TCA>TGA		glutamine and serine rich 1							82.0	78.0	79.0					11																	32975556		1887	4105	5992	SO:0001587	stop_gained	79832							g.chr11:32975556C>G	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.3944C>G	11.37:g.32975556C>G	ENSP00000382241:p.Ser1315*					QSER1_uc001mtz.1_Nonsense_Mutation_p.S1076*|QSER1_uc001mua.2_Nonsense_Mutation_p.S820*	p.S1315*	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN			5	4211	+	Breast(20;0.158)		1315					Q6ZU30|Q6ZUR5	Nonsense_Mutation	SNP	ENST00000399302.2	37	c.3944C>G	CCDS41631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.138914|8.138914	0.98672|0.98672	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000524678|ENST00000399302;ENST00000078652;ENST00000527788	.|.	.|.	.|.	5.92|5.92	5.02|5.02	0.67125|0.67125	.|.	.|0.874764	.|0.09723	.|N	.|0.764168	T|.	0.44726|.	0.1307|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.50767|.	-0.8789|.	3|.	.|0.34782	.|T	.|0.22	.|.	7.0721|7.0721	0.25183|0.25183	0.0:0.7179:0.0:0.2821|0.0:0.7179:0.0:0.2821	.|.	.|.	.|.	.|.	E|X	336|1315;1076;1076	.|.	.|ENSP00000078652:S1076X	Q|S	+|+	1|2	0|0	QSER1|QSER1	32932132|32932132	0.597000|0.597000	0.26874|0.26874	0.615000|0.615000	0.29064|0.29064	0.003000|0.003000	0.03518|0.03518	1.170000|1.170000	0.31883|0.31883	1.521000|1.521000	0.48983|0.48983	-0.225000|-0.225000	0.12378|0.12378	CAA|TCA		PASS	0.428	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		14	35	14	35	---	---	---	---
EHF	26298	broad.mit.edu	37	11	34680084	34680084	+	Silent	SNP	G	G	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr11:34680084G>C	ENST00000533754.1	+	8	829	c.612G>C	c.(610-612)ccG>ccC	p.P204P	EHF_ENST00000257831.3_Silent_p.P204P|EHF_ENST00000531794.1_Silent_p.P226P|EHF_ENST00000450654.2_Silent_p.P181P|EHF_ENST00000530286.1_Silent_p.P204P					ets homologous factor									p.P204P(1)	NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			CATCAGACCCGAGAGGGACTC	0.468																																						uc001mvr.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(610-612)CCG>CCC		ets homologous factor							68.0	70.0	69.0					11																	34680084		2202	4298	6500	SO:0001819	synonymous_variant	26298				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:34680084G>C	AF170583	CCDS7894.1, CCDS55752.1, CCDS55753.1	11p12	2008-07-18				ENSG00000135373			3246	protein-coding gene	gene with protein product	"""epithelium-specific ets factor 3"", ""ESE3 transcription factor"""	605439				10527851	Standard	NM_012153		Approved	ESE3, ESEJ	uc021qfu.1	Q9NZC4		ENST00000533754.1:c.612G>C	11.37:g.34680084G>C						EHF_uc009yke.1_Silent_p.P181P|EHF_uc009ykf.1_Silent_p.P207P	p.P204P	NM_012153	NP_036285	Q9NZC4	EHF_HUMAN	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)		8	723	+		all_hematologic(20;0.117)	204						Silent	SNP	ENST00000533754.1	37	c.612G>C	CCDS7894.1																																																																																				PASS	0.468	EHF-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389855.1	NM_012153		14	59	14	59	---	---	---	---
OR4A15	81328	broad.mit.edu	37	11	55135797	55135797	+	Missense_Mutation	SNP	G	G	T	rs368598718		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr11:55135797G>T	ENST00000314706.3	+	1	438	c.438G>T	c.(436-438)atG>atT	p.M146I		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M146I(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TGGTGGTAATGGCCTATGATC	0.438																																						uc010rif.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(436-438)ATG>ATT		olfactory receptor, family 4, subfamily A,							192.0	182.0	185.0					11																	55135797		2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135797G>T	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.438G>T	11.37:g.55135797G>T	ENSP00000325065:p.Met146Ile						p.M146I	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	438	+			146			Helical; Name=3; (Potential).		Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.438G>T	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	g	15.87	2.961318	0.53400	.	.	ENSG00000181958	ENST00000314706	T	0.01126	5.3	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	T	0.05135	0.0137	H	0.98005	4.125	0.40597	D	0.981544	P	0.41524	0.753	B	0.38500	0.275	T	0.03503	-1.1030	10	0.87932	D	0	.	12.5491	0.56216	0.0:0.0:1.0:0.0	.	146	Q8NGL6	O4A15_HUMAN	I	146	ENSP00000325065:M146I	ENSP00000325065:M146I	M	+	3	0	OR4A15	54892373	1.000000	0.71417	0.998000	0.56505	0.751000	0.42716	6.461000	0.73522	1.785000	0.52413	0.492000	0.49549	ATG		PASS	0.438	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		22	118	22	118	---	---	---	---
OR4S2	219431	broad.mit.edu	37	11	55418439	55418439	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr11:55418439G>T	ENST00000312422.2	+	1	60	c.60G>T	c.(58-60)gaG>gaT	p.E20D		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E20D(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				AGAGCCCAGAGATTGAGAAAG	0.373																																						uc001nhs.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(58-60)GAG>GAT		olfactory receptor, family 4, subfamily S,							87.0	76.0	80.0					11																	55418439		2180	4013	6193	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418439G>T	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.60G>T	11.37:g.55418439G>T	ENSP00000310337:p.Glu20Asp						p.E20D	NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN			1	60	+		all_epithelial(135;0.0748)	20			Extracellular (Potential).		Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.60G>T	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	G	6.956	0.546186	0.13312	.	.	ENSG00000174982	ENST00000312422	T	0.00433	7.43	5.25	-5.15	0.02866	.	0.240385	0.28630	N	0.014670	T	0.00178	0.0005	N	0.25825	0.765	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.47394	-0.9121	10	0.32370	T	0.25	.	2.1375	0.03766	0.35:0.2011:0.3468:0.102	.	20	Q8NH73	OR4S2_HUMAN	D	20	ENSP00000310337:E20D	ENSP00000310337:E20D	E	+	3	2	OR4S2	55175015	0.000000	0.05858	0.000000	0.03702	0.310000	0.27922	-1.229000	0.02945	-0.582000	0.05929	-0.275000	0.10095	GAG		PASS	0.373	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		17	68	17	68	---	---	---	---
OR5D13	390142	broad.mit.edu	37	11	55541234	55541234	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr11:55541234C>A	ENST00000361760.1	+	1	321	c.321C>A	c.(319-321)tgC>tgA	p.C107*		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C107*(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GTTTTGCTTGCATTTTTGGAG	0.398																																						uc010ril.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(319-321)TGC>TGA		olfactory receptor, family 5, subfamily D,							196.0	190.0	192.0					11																	55541234		2200	4296	6496	SO:0001587	stop_gained	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541234C>A	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.321C>A	11.37:g.55541234C>A	ENSP00000354800:p.Cys107*						p.C107*	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			1	321	+		all_epithelial(135;0.196)	107			Helical; Name=3; (Potential).		Q6IF68|Q6IFC9	Nonsense_Mutation	SNP	ENST00000361760.1	37	c.321C>A	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	C	8.945	0.966786	0.18659	.	.	ENSG00000198877	ENST00000361760	.	.	.	3.52	-2.17	0.07059	.	0.831580	0.09826	U	0.750882	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-4.9278	10.2778	0.43521	0.0:0.2675:0.0:0.7325	.	.	.	.	X	107	.	ENSP00000354800:C107X	C	+	3	2	OR5D13	55297810	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.962000	0.01514	-0.597000	0.05813	-0.400000	0.06385	TGC		PASS	0.398	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		25	93	25	93	---	---	---	---
OR5L1	219437	broad.mit.edu	37	11	55579243	55579243	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr11:55579243T>C	ENST00000333973.2	+	1	390	c.301T>C	c.(301-303)Ttc>Ctc	p.F101L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F101L(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CATGGTGCAATTCTACTTGTT	0.453																																						uc001nhw.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(301-303)TTC>CTC		olfactory receptor, family 5, subfamily L,							236.0	210.0	219.0					11																	55579243		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579243T>C	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.301T>C	11.37:g.55579243T>C	ENSP00000335529:p.Phe101Leu						p.F101L	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			1	301	+		all_epithelial(135;0.208)	101			Helical; Name=3; (Potential).		B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.301T>C	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	t	9.968	1.224780	0.22457	.	.	ENSG00000186117	ENST00000333973	T	0.00448	7.38	4.18	1.52	0.23074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000062	T	0.00210	0.0006	N	0.22421	0.69	0.09310	N	1	B	0.20368	0.044	B	0.21151	0.033	T	0.32322	-0.9911	10	0.15499	T	0.54	-36.0702	7.2707	0.26254	0.3516:0.0:0.0:0.6484	.	101	Q8NGL2	OR5L1_HUMAN	L	101	ENSP00000335529:F101L	ENSP00000335529:F101L	F	+	1	0	OR5L1	55335819	0.000000	0.05858	0.002000	0.10522	0.039000	0.13416	-0.324000	0.07986	0.445000	0.26639	0.358000	0.22013	TTC		PASS	0.453	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		29	93	29	93	---	---	---	---
SERPING1	710	broad.mit.edu	37	11	57367679	57367679	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr11:57367679G>A	ENST00000278407.4	+	3	606	c.379G>A	c.(379-381)Gtt>Att	p.V127I	SERPING1_ENST00000378324.2_Missense_Mutation_p.V75I|SERPING1_ENST00000403558.1_Missense_Mutation_p.V161I|SERPING1_ENST00000340687.6_Missense_Mutation_p.V127I|SERPING1_ENST00000378323.4_Missense_Mutation_p.V132I	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	127			Missing (in HAE; phenotype consistent with hereditary angioedema type 2). {ECO:0000269|PubMed:12773530}.		blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V127I(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CCCAGGACCTGTTACTCTCTG	0.557																																						uc001nkp.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(379-381)GTT>ATT		serpin peptidase inhibitor, clade G, member 1							181.0	191.0	188.0					11																	57367679		2201	4296	6497	SO:0001583	missense	710	Hereditary_Angioedema			blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	g.chr11:57367679G>A	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.379G>A	11.37:g.57367679G>A	ENSP00000278407:p.Val127Ile					SERPING1_uc001nkq.1_Missense_Mutation_p.V127I|SERPING1_uc010rju.1_Missense_Mutation_p.V75I|SERPING1_uc010rjv.1_Missense_Mutation_p.V132I|SERPING1_uc001nkr.1_Missense_Mutation_p.V127I|SERPING1_uc009ymi.1_Missense_Mutation_p.V127I|SERPING1_uc009ymj.1_Missense_Mutation_p.V127I|SERPING1_uc001nks.1_Intron	p.V127I	NM_000062	NP_000053	P05155	IC1_HUMAN			3	570	+			127		Missing (in HAE; type 2).			A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Missense_Mutation	SNP	ENST00000278407.4	37	c.379G>A	CCDS7962.1	.	.	.	.	.	.	.	.	.	.	G	8.165	0.790435	0.16258	.	.	ENSG00000149131	ENST00000405496;ENST00000278407;ENST00000340687;ENST00000378323;ENST00000378324;ENST00000403558	D;D;D;D;D;D	0.89939	-2.59;-2.29;-2.29;-2.29;-2.29;-2.29	5.94	1.82	0.25136	Serpin domain (1);	2.113980	0.01990	N	0.045424	D	0.85566	0.5726	L	0.43152	1.355	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.67268	-0.5713	10	0.49607	T	0.09	.	6.8728	0.24131	0.1345:0.2831:0.5824:0.0	.	132;161;127;127	B4E1F0;E9PGN7;E9KL26;P05155	.;.;.;IC1_HUMAN	I	127;127;127;132;75;161	ENSP00000384561:V127I;ENSP00000278407:V127I;ENSP00000341861:V127I;ENSP00000367574:V132I;ENSP00000367575:V75I;ENSP00000384420:V161I	ENSP00000278407:V127I	V	+	1	0	SERPING1	57124255	0.000000	0.05858	0.000000	0.03702	0.148000	0.21650	-0.361000	0.07612	0.091000	0.17302	0.561000	0.74099	GTT		PASS	0.557	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062		37	126	37	126	---	---	---	---
OR10W1	81341	broad.mit.edu	37	11	58034512	58034512	+	Silent	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr11:58034512G>T	ENST00000395079.2	-	1	1220	c.819C>A	c.(817-819)acC>acA	p.T273T		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T273T(1)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				TGAGCAGTGGGGTTCCCAATG	0.537																																						uc001nmq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(817-819)ACC>ACA		olfactory receptor, family 10, subfamily W,							107.0	98.0	101.0					11																	58034512		2201	4295	6496	SO:0001819	synonymous_variant	81341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58034512G>T	AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"""GPCR / Class A : Olfactory receptors"""	15139	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily W, member 1 pseudogene"""	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.819C>A	11.37:g.58034512G>T							p.T273T	NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN			1	1221	-		Breast(21;0.0589)	273			Helical; Name=7; (Potential).		A2RUD2|A8MTE1|Q6UXQ2	Silent	SNP	ENST00000395079.2	37	c.819C>A	CCDS7968.1																																																																																				PASS	0.537	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394704.1	NM_207374		15	49	15	49	---	---	---	---
OR10W1	81341	broad.mit.edu	37	11	58034871	58034871	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr11:58034871T>A	ENST00000395079.2	-	1	861	c.460A>T	c.(460-462)Atc>Ttc	p.I154F		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I154F(1)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				AGAGAGAAGATGAAGGCCACC	0.488																																						uc001nmq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(460-462)ATC>TTC		olfactory receptor, family 10, subfamily W,							103.0	70.0	82.0					11																	58034871		2201	4295	6496	SO:0001583	missense	81341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58034871T>A	AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"""GPCR / Class A : Olfactory receptors"""	15139	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily W, member 1 pseudogene"""	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.460A>T	11.37:g.58034871T>A	ENSP00000378516:p.Ile154Phe						p.I154F	NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN			1	862	-		Breast(21;0.0589)	154			Extracellular (Potential).		A2RUD2|A8MTE1|Q6UXQ2	Missense_Mutation	SNP	ENST00000395079.2	37	c.460A>T	CCDS7968.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.940876	0.52972	.	.	ENSG00000172772	ENST00000395079	T	0.00123	8.7	5.81	0.911	0.19343	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000093	T	0.00328	0.0010	M	0.79123	2.44	0.09310	N	0.999999	P	0.51147	0.942	P	0.55455	0.776	T	0.35425	-0.9789	10	0.87932	D	0	.	10.1345	0.42697	0.0:0.3377:0.0:0.6623	.	154	Q8NGF6	O10W1_HUMAN	F	154	ENSP00000378516:I154F	ENSP00000378516:I154F	I	-	1	0	OR10W1	57791447	0.000000	0.05858	0.983000	0.44433	0.622000	0.37654	-1.210000	0.02999	0.141000	0.18875	-0.250000	0.11733	ATC		PASS	0.488	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394704.1	NM_207374		6	29	6	29	---	---	---	---
OR10W1	81341	broad.mit.edu	37	11	58034879	58034879	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr11:58034879A>C	ENST00000395079.2	-	1	853	c.452T>G	c.(451-453)gTg>gGg	p.V151G		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V151G(1)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GATGAAGGCCACCAGTTGTAA	0.507																																						uc001nmq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(451-453)GTG>GGG		olfactory receptor, family 10, subfamily W,							108.0	72.0	84.0					11																	58034879		2201	4295	6496	SO:0001583	missense	81341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58034879A>C	AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"""GPCR / Class A : Olfactory receptors"""	15139	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily W, member 1 pseudogene"""	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.452T>G	11.37:g.58034879A>C	ENSP00000378516:p.Val151Gly						p.V151G	NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN			1	854	-		Breast(21;0.0589)	151			Helical; Name=4; (Potential).		A2RUD2|A8MTE1|Q6UXQ2	Missense_Mutation	SNP	ENST00000395079.2	37	c.452T>G	CCDS7968.1	.	.	.	.	.	.	.	.	.	.	A	14.78	2.637203	0.47049	.	.	ENSG00000172772	ENST00000395079	T	0.00207	8.55	5.81	2.23	0.28157	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45361	D	0.000368	T	0.00356	0.0011	M	0.73372	2.23	0.23862	N	0.996634	D	0.54047	0.964	P	0.55055	0.767	T	0.42137	-0.9469	10	0.87932	D	0	.	9.1857	0.37170	0.7836:0.0:0.2164:0.0	.	151	Q8NGF6	O10W1_HUMAN	G	151	ENSP00000378516:V151G	ENSP00000378516:V151G	V	-	2	0	OR10W1	57791455	0.000000	0.05858	0.866000	0.34008	0.527000	0.34593	0.389000	0.20751	0.476000	0.27440	-0.256000	0.11100	GTG		PASS	0.507	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394704.1	NM_207374		11	24	11	24	---	---	---	---
OR4D9	390199	broad.mit.edu	37	11	59282787	59282787	+	Silent	SNP	C	C	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr11:59282787C>G	ENST00000329328.3	+	1	402	c.402C>G	c.(400-402)acC>acG	p.T134T		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T134T(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						ACTATATGACCATCATGAGTA	0.537																																						uc010rkv.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(400-402)ACC>ACG		olfactory receptor, family 4, subfamily D,							77.0	76.0	76.0					11																	59282787		2201	4295	6496	SO:0001819	synonymous_variant	390199				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59282787C>G	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"""GPCR / Class A : Olfactory receptors"""	15178	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily D, member 9 pseudogene"""				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.402C>G	11.37:g.59282787C>G							p.T134T	NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN			1	402	+			134			Cytoplasmic (Potential).		Q6IFF3	Silent	SNP	ENST00000329328.3	37	c.402C>G	CCDS31564.1																																																																																				PASS	0.537	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		10	42	10	42	---	---	---	---
TCN1	6947	broad.mit.edu	37	11	59623397	59623397	+	Silent	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr11:59623397C>A	ENST00000257264.3	-	6	986	c.882G>T	c.(880-882)ctG>ctT	p.L294L	TCN1_ENST00000532419.1_Intron	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	294	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)	p.L294L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTTTCCCATCAGGGCAGGTA	0.448																																						uc001noj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(880-882)CTG>CTT		transcobalamin I precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						129.0	128.0	128.0					11																	59623397		2201	4295	6496	SO:0001819	synonymous_variant	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59623397C>A	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.882G>T	11.37:g.59623397C>A							p.L294L	NM_001062	NP_001053	P20061	TCO1_HUMAN			6	980	-		all_epithelial(135;0.198)	294					A8KAC5|Q8WV77	Silent	SNP	ENST00000257264.3	37	c.882G>T	CCDS7978.1																																																																																				PASS	0.448	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		11	67	11	67	---	---	---	---
FERMT3	83706	broad.mit.edu	37	11	63978760	63978760	+	Silent	SNP	A	A	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr11:63978760A>G	ENST00000279227.5	+	5	623	c.528A>G	c.(526-528)gcA>gcG	p.A176A	FERMT3_ENST00000345728.5_Silent_p.A176A	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	176					integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)	p.A176A(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						TGGCACCTGCACTGTTCCGGG	0.716																																						uc001nyl.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(526-528)GCA>GCG		fermitin family homolog 3 long form							29.0	27.0	28.0					11																	63978760		2200	4296	6496	SO:0001819	synonymous_variant	83706				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	g.chr11:63978760A>G	L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	23151	protein-coding gene	gene with protein product	"""kindlin-3"""	607901	"""fermitin family homolog 3 (Drosophila)"""				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.528A>G	11.37:g.63978760A>G						FERMT3_uc001nym.2_Silent_p.A176A	p.A176A	NM_178443	NP_848537	Q86UX7	URP2_HUMAN			5	677	+			176					Q8IUA1|Q8N207|Q9BT48	Silent	SNP	ENST00000279227.5	37	c.528A>G	CCDS8060.1																																																																																				PASS	0.716	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		3	11	3	11	---	---	---	---
MALAT1	378938	broad.mit.edu	37	11	65269052	65269052	+	lincRNA	SNP	G	G	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr11:65269052G>C	ENST00000534336.1	+	0	3820					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TTTTTTCTAAGATTTTCCACA	0.423																																						uc010roh.1																			0					0								Homo sapiens clone alpha1 mRNA sequence.							97.0	96.0	96.0					11																	65269052		874	1988	2862			378938							g.chr11:65269052G>C	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65269052G>C						uc001ody.2_RNA|MALAT1_uc001odz.2_5'Flank		NR_002819						1		+									RNA	SNP	ENST00000534336.1	37	c.3820G>C																																																																																					PASS	0.423	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		5	64	5	64	---	---	---	---
C11orf72	100505621	broad.mit.edu	37	11	67372302	67372302	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr11:67372302G>T	ENST00000333139.3	-	3	479	c.239C>A	c.(238-240)gCc>gAc	p.A80D	NDUFV1_ENST00000415352.2_5'Flank|C11orf72_ENST00000446232.1_Missense_Mutation_p.A80D|NDUFV1_ENST00000529927.1_5'Flank|NDUFV1_ENST00000532303.1_5'Flank|RP11-655M14.12_ENST00000533876.1_RNA|NDUFV1_ENST00000322776.6_5'Flank			Q8NBR9	CK072_HUMAN	chromosome 11 open reading frame 72	80								p.A80D(1)		central_nervous_system(1)|lung(2)|stomach(1)	4						atacctcttggcttgtggcct	0.557																																						uc001omi.1																			1	Substitution - Missense(1)		lung(1)								c.(238-240)GCC>GAC		RecName: Full=Uncharacterized protein C11orf72;							84.0	75.0	78.0					11																	67372302		2200	4295	6495	SO:0001583	missense	0							g.chr11:67372302G>T	AK075315		11q13.2	2011-05-24			ENSG00000184224	ENSG00000184224			26915	protein-coding gene	gene with protein product							Standard			Approved	FLJ90834	uc001omi.1	Q8NBR9	OTTHUMG00000156309	ENST00000333139.3:c.239C>A	11.37:g.67372302G>T	ENSP00000328640:p.Ala80Asp					NDUFV1_uc001omj.2_5'Flank|NDUFV1_uc010rpv.1_5'Flank|NDUFV1_uc001oml.2_5'Flank|NDUFV1_uc001omk.3_5'Flank	p.A80D							2	395	-									Missense_Mutation	SNP	ENST00000333139.3	37	c.239C>A		.	.	.	.	.	.	.	.	.	.	g	10.39	1.337360	0.24253	.	.	ENSG00000184224	ENST00000333139;ENST00000446232	T;T	0.55413	0.52;0.52	2.06	-0.0172	0.13969	.	.	.	.	.	T	0.42314	0.1197	.	.	.	.	.	.	D	0.58268	0.982	P	0.44623	0.455	T	0.48340	-0.9044	7	0.87932	D	0	.	3.1151	0.06371	0.1826:0.2872:0.5303:0.0	.	80	Q8NBR9	CK072_HUMAN	D	80	ENSP00000328640:A80D;ENSP00000416700:A80D	ENSP00000328640:A80D	A	-	2	0	C11orf72	67128878	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	-0.026000	0.12392	-0.004000	0.14419	0.506000	0.49869	GCC		PASS	0.557	C11orf72-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343852.2	NM_173578		8	17	8	17	---	---	---	---
MRGPRD	116512	broad.mit.edu	37	11	68748108	68748108	+	Silent	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr11:68748108C>T	ENST00000309106.3	-	1	347	c.348G>A	c.(346-348)ctG>ctA	p.L116L		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	116						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L116L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGATGGCCGTCAGCAGGCTCA	0.587																																						uc010rqf.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(346-348)CTG>CTA		MAS-related GPR, member D							80.0	68.0	72.0					11																	68748108		2200	4294	6494	SO:0001819	synonymous_variant	116512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68748108C>T	AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"""GPCR / Class A : Orphans"""	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.348G>A	11.37:g.68748108C>T							p.L116L	NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		1	348	-			116			Helical; Name=3; (Potential).		Q8NGK7	Silent	SNP	ENST00000309106.3	37	c.348G>A	CCDS31625.1																																																																																				PASS	0.587	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	NM_198923		7	20	7	20	---	---	---	---
MRGPRD	116512	broad.mit.edu	37	11	68748447	68748447	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr11:68748447C>G	ENST00000309106.3	-	1	8	c.9G>C	c.(7-9)caG>caC	p.Q3H		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	3						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Q3H(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TATTCAAAGTCTGGTTCATCC	0.557																																						uc010rqf.1																			2	Substitution - Missense(2)		NS(1)|lung(1)	pancreas(1)	1						c.(7-9)CAG>CAC		MAS-related GPR, member D							72.0	69.0	70.0					11																	68748447		2200	4290	6490	SO:0001583	missense	116512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68748447C>G	AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"""GPCR / Class A : Orphans"""	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.9G>C	11.37:g.68748447C>G	ENSP00000310631:p.Gln3His						p.Q3H	NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		1	9	-			3			Extracellular (Potential).		Q8NGK7	Missense_Mutation	SNP	ENST00000309106.3	37	c.9G>C	CCDS31625.1	.	.	.	.	.	.	.	.	.	.	C	8.374	0.835926	0.16820	.	.	ENSG00000172938	ENST00000309106	T	0.03889	3.77	3.37	0.0949	0.14483	.	4.542750	0.01792	U	0.032388	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	B	0.25563	0.129	B	0.18871	0.023	T	0.40627	-0.9553	10	0.19590	T	0.45	-0.5761	6.5156	0.22246	0.1849:0.4241:0.391:0.0	.	3	Q8TDS7	MRGRD_HUMAN	H	3	ENSP00000310631:Q3H	ENSP00000310631:Q3H	Q	-	3	2	MRGPRD	68505023	0.000000	0.05858	0.027000	0.17364	0.311000	0.27955	-1.375000	0.02563	-0.079000	0.12707	0.313000	0.20887	CAG		PASS	0.557	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	NM_198923		9	61	9	61	---	---	---	---
P2RY2	5029	broad.mit.edu	37	11	72945520	72945520	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr11:72945520T>A	ENST00000311131.2	+	3	783	c.316T>A	c.(316-318)Tgc>Agc	p.C106S	P2RY2_ENST00000393597.2_Missense_Mutation_p.C106S|P2RY2_ENST00000393596.2_Missense_Mutation_p.C106S	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	106					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)	p.C106S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CACGGTGCTCTGCAAGCTGGT	0.602																																						uc001otj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(316-318)TGC>AGC		purinergic receptor P2Y2	Suramin(DB04786)						98.0	89.0	92.0					11																	72945520		2200	4293	6493	SO:0001583	missense	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72945520T>A	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.316T>A	11.37:g.72945520T>A	ENSP00000310305:p.Cys106Ser					P2RY2_uc001otk.2_Missense_Mutation_p.C106S|P2RY2_uc001otl.2_Missense_Mutation_p.C106S	p.C106S	NM_002564	NP_002555	P41231	P2RY2_HUMAN			3	649	+			106			Extracellular (Potential).		B2R9W3|Q96EM8	Missense_Mutation	SNP	ENST00000311131.2	37	c.316T>A	CCDS8219.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.667388	0.88348	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.62105	0.05;0.05;0.05	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.87759	0.6258	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92642	0.6125	10	0.87932	D	0	.	14.3469	0.66672	0.0:0.0:0.0:1.0	.	106	P41231	P2RY2_HUMAN	S	106	ENSP00000377222:C106S;ENSP00000310305:C106S;ENSP00000377221:C106S	ENSP00000310305:C106S	C	+	1	0	P2RY2	72623168	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.943000	0.87716	1.990000	0.58119	0.528000	0.53228	TGC		PASS	0.602	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		14	50	14	50	---	---	---	---
MED17	9440	broad.mit.edu	37	11	93545108	93545108	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr11:93545108G>T	ENST00000251871.3	+	12	2121	c.1834G>T	c.(1834-1836)Gat>Tat	p.D612Y		NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	612					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.D612Y(1)		large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGTTTTACAAGATAACAAATG	0.383																																						uc001pem.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1834-1836)GAT>TAT		mediator complex subunit 17							149.0	150.0	149.0					11																	93545108		2201	4298	6499	SO:0001583	missense	9440				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr11:93545108G>T	AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"""cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)"", ""cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"""	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.1834G>T	11.37:g.93545108G>T	ENSP00000251871:p.Asp612Tyr						p.D612Y	NM_004268	NP_004259	Q9NVC6	MED17_HUMAN			12	2109	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	612					B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Missense_Mutation	SNP	ENST00000251871.3	37	c.1834G>T	CCDS8295.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189723	0.78789	.	.	ENSG00000042429	ENST00000251871;ENST00000427225	T	0.61627	0.09	5.55	5.55	0.83447	.	0.042828	0.85682	D	0.000000	T	0.71169	0.3308	L	0.53249	1.67	0.80722	D	1	D	0.71674	0.998	P	0.60789	0.879	T	0.73266	-0.4037	10	0.87932	D	0	-23.8364	19.5077	0.95125	0.0:0.0:1.0:0.0	.	612	Q9NVC6	MED17_HUMAN	Y	612;582	ENSP00000251871:D612Y	ENSP00000251871:D612Y	D	+	1	0	MED17	93184756	1.000000	0.71417	0.988000	0.46212	0.686000	0.39977	9.332000	0.96446	2.624000	0.88883	0.563000	0.77884	GAT		PASS	0.383	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	NM_004268		17	73	17	73	---	---	---	---
DLAT	1737	broad.mit.edu	37	11	111908010	111908010	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr11:111908010G>T	ENST00000280346.6	+	6	1460	c.801G>T	c.(799-801)caG>caT	p.Q267H	DLAT_ENST00000537636.1_Missense_Mutation_p.Q38H|DLAT_ENST00000393051.1_Intron	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	267	Lipoyl-binding 2. {ECO:0000255|PROSITE- ProRule:PRU01066}.				cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)	p.Q267H(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-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;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		TTGAAGTACAGGAAGAAGGTT	0.383																																						uc001pmo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(799-801)CAG>CAT		dihydrolipoamide S-acetyltransferase precursor	NADH(DB00157)						79.0	85.0	83.0					11																	111908010		2201	4297	6498	SO:0001583	missense	1737				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding	g.chr11:111908010G>T	Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"""E2 component of pyruvate dehydrogenase complex"""	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.801G>T	11.37:g.111908010G>T	ENSP00000280346:p.Gln267His					DLAT_uc009yyk.1_Intron|DLAT_uc010rwr.1_Missense_Mutation_p.Q140H	p.Q267H	NM_001931	NP_001922	P10515	ODP2_HUMAN		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	6	1460	+		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-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)	267			Lipoyl-binding 2.		Q16783|Q53EP3	Missense_Mutation	SNP	ENST00000280346.6	37	c.801G>T	CCDS8354.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624171	0.66901	.	.	ENSG00000150768	ENST00000280346;ENST00000531306;ENST00000537636	T;T;T	0.58210	0.35;0.35;0.35	5.93	1.47	0.22746	Single hybrid motif (1);Biotin/lipoyl attachment (2);	0.060240	0.64402	D	0.000002	T	0.61489	0.2351	M	0.76574	2.34	0.45718	D	0.99862	P;P	0.47910	0.902;0.902	P;P	0.57960	0.83;0.83	T	0.58741	-0.7583	10	0.15499	T	0.54	-0.8437	10.0467	0.42190	0.4388:0.0:0.5612:0.0	.	267;267	Q86YI5;P10515	.;ODP2_HUMAN	H	267;99;38	ENSP00000280346:Q267H;ENSP00000433432:Q99H;ENSP00000442427:Q38H	ENSP00000280346:Q267H	Q	+	3	2	DLAT	111413220	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.819000	0.39022	0.404000	0.25506	0.585000	0.79938	CAG		PASS	0.383	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931		5	62	5	62	---	---	---	---
TTC12	54970	broad.mit.edu	37	11	113222836	113222836	+	Silent	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr11:113222836C>T	ENST00000529221.1	+	16	1458	c.1353C>T	c.(1351-1353)tgC>tgT	p.C451C	TTC12_ENST00000314756.3_Silent_p.C451C|TTC12_ENST00000483239.2_Silent_p.C457C|TTC12_ENST00000393020.1_Silent_p.C451C|TTC12_ENST00000478125.1_3'UTR	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	451								p.C451C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TGTGCCAGTGCATTGCCATCA	0.542																																						uc001pnu.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(1351-1353)TGC>TGT		tetratricopeptide repeat domain 12							127.0	114.0	118.0					11																	113222836		2201	4296	6497	SO:0001819	synonymous_variant	54970						binding	g.chr11:113222836C>T	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.1353C>T	11.37:g.113222836C>T						TTC12_uc001pnv.2_Silent_p.C457C|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Silent_p.C301C	p.C451C	NM_017868	NP_060338	Q9H892	TTC12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	16	1458	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	451					Q8N5H9|Q9NWY3	Silent	SNP	ENST00000529221.1	37	c.1353C>T	CCDS8360.2																																																																																				PASS	0.542	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		15	38	15	38	---	---	---	---
FOXRED1	55572	broad.mit.edu	37	11	126146370	126146370	+	Silent	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr11:126146370C>A	ENST00000263578.5	+	9	1127	c.1053C>A	c.(1051-1053)cgC>cgA	p.R351R	FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000532125.1_Silent_p.R337R|FOXRED1_ENST00000442061.2_Silent_p.R181R	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	351						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)	p.R351R(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		CCTATTTTCGCCGGGAAGGAT	0.552																																						uc001qdi.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1051-1053)CGC>CGA		FAD-dependent oxidoreductase domain containing							110.0	104.0	106.0					11																	126146370		2201	4297	6498	SO:0001819	synonymous_variant	55572					integral to membrane|mitochondrion	oxidoreductase activity|protein binding	g.chr11:126146370C>A		CCDS8471.1	11q24.2	2006-02-03			ENSG00000110074	ENSG00000110074			26927	protein-coding gene	gene with protein product		613622				10497265	Standard	NM_017547		Approved	H17	uc001qdi.3	Q96CU9	OTTHUMG00000165827	ENST00000263578.5:c.1053C>A	11.37:g.126146370C>A						FOXRED1_uc010sbn.1_Silent_p.R181R|FOXRED1_uc010sbo.1_RNA|FOXRED1_uc010sbp.1_Silent_p.R164R|FOXRED1_uc010sbq.1_Silent_p.R218R|FOXRED1_uc001qdj.2_Silent_p.R140R|FOXRED1_uc010sbr.1_Silent_p.R337R|FOXRED1_uc001qdk.2_Silent_p.R140R	p.R351R	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)	9	1100	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)	351					B3KN84|B4DHU2|Q71MG0|Q9BU39|Q9UKY9	Silent	SNP	ENST00000263578.5	37	c.1053C>A	CCDS8471.1																																																																																				PASS	0.552	FOXRED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386434.1	NM_017547		18	114	18	114	---	---	---	---
NFRKB	4798	broad.mit.edu	37	11	129762615	129762615	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr11:129762615C>A	ENST00000446488.3	-	2	233	c.130G>T	c.(130-132)Gag>Tag	p.E44*	NFRKB_ENST00000524794.1_Nonsense_Mutation_p.E57*|NFRKB_ENST00000526940.1_Nonsense_Mutation_p.E44*|NFRKB_ENST00000304521.5_Nonsense_Mutation_p.E44*|NFRKB_ENST00000524746.1_Nonsense_Mutation_p.E44*	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	44					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)	p.E57*(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CTCACATCCTCCAGAAGGTCC	0.522																																						uc001qfi.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(130-132)GAG>TAG		nuclear factor related to kappaB binding protein							152.0	128.0	136.0					11																	129762615		2201	4297	6498	SO:0001587	stop_gained	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129762615C>A		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.130G>T	11.37:g.129762615C>A	ENSP00000400476:p.Glu44*					NFRKB_uc001qfg.2_Nonsense_Mutation_p.E57*|NFRKB_uc001qfh.2_Nonsense_Mutation_p.E67*|NFRKB_uc010sbw.1_Nonsense_Mutation_p.E44*	p.E44*	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	3	331	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	44					Q12869|Q15312|Q9H048	Nonsense_Mutation	SNP	ENST00000446488.3	37	c.130G>T	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	C	38	7.119348	0.98077	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746;ENST00000531755;ENST00000532225;ENST00000529319;ENST00000526940;ENST00000526884;ENST00000531318	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.1742	18.8739	0.92327	0.0:1.0:0.0:0.0	.	.	.	.	X	44;44;57;44;44;44;44;44;44;44	.	ENSP00000303800:E44X	E	-	1	0	NFRKB	129267825	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.264000	0.78432	2.458000	0.83093	0.585000	0.79938	GAG		PASS	0.522	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		12	71	12	71	---	---	---	---
KCNA1	3736	broad.mit.edu	37	12	5021036	5021036	+	Silent	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr12:5021036G>T	ENST00000382545.3	+	2	1599	c.492G>T	c.(490-492)ggG>ggT	p.G164G	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	164					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)	p.G164G(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	AGAGCTCGGGGCCCGCCAGGG	0.622																																						uc001qnh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(490-492)GGG>GGT		potassium voltage-gated channel subfamily A	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						62.0	66.0	65.0					12																	5021036		2203	4300	6503	SO:0001819	synonymous_variant	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021036G>T	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.492G>T	12.37:g.5021036G>T							p.G164G	NM_000217	NP_000208	Q09470	KCNA1_HUMAN			2	1597	+			164					A6NM83|Q3MIQ9	Silent	SNP	ENST00000382545.3	37	c.492G>T	CCDS8535.1																																																																																				PASS	0.622	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		9	16	9	16	---	---	---	---
KCNA5	3741	broad.mit.edu	37	12	5153731	5153731	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr12:5153731C>G	ENST00000252321.3	+	1	647	c.418C>G	c.(418-420)Cag>Gag	p.Q140E		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	140					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)	p.Q140E(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	CACCCTGGCGCAGTTCCCCAA	0.667																																						uc001qni.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(418-420)CAG>GAG		potassium voltage-gated channel, shaker-related							29.0	30.0	29.0					12																	5153731		2203	4300	6503	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5153731C>G	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.418C>G	12.37:g.5153731C>G	ENSP00000252321:p.Gln140Glu						p.Q140E	NM_002234	NP_002225	P22460	KCNA5_HUMAN			1	647	+			140					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.418C>G	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750615	0.69533	.	.	ENSG00000130037	ENST00000252321	T	0.76060	-0.99	4.7	4.7	0.59300	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	U	0.000002	T	0.79644	0.4481	M	0.66506	2.035	0.49389	D	0.999781	P	0.45283	0.855	P	0.48982	0.597	T	0.82837	-0.0260	10	0.72032	D	0.01	.	16.8208	0.85745	0.0:1.0:0.0:0.0	.	140	P22460	KCNA5_HUMAN	E	140	ENSP00000252321:Q140E	ENSP00000252321:Q140E	Q	+	1	0	KCNA5	5023992	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.709000	0.61867	2.443000	0.82685	0.511000	0.50034	CAG		PASS	0.667	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		7	35	7	35	---	---	---	---
TAS2R8	50836	broad.mit.edu	37	12	10958656	10958656	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr12:10958656C>T	ENST00000240615.2	-	1	1236	c.924G>A	c.(922-924)atG>atA	p.M308I		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	308			M -> V (in dbSNP:rs2537817). {ECO:0000269|PubMed:15496549}.		detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.M308I(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GATTTCATATCATGCAGGCAA	0.303																																						uc010shh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(922-924)ATG>ATA		taste receptor, type 2, member 8							23.0	24.0	23.0					12																	10958656		2191	4273	6464	SO:0001583	missense	50836				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10958656C>T	AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14915	protein-coding gene	gene with protein product		604794				10761934, 10766242	Standard	NM_023918		Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.924G>A	12.37:g.10958656C>T	ENSP00000240615:p.Met308Ile						p.M308I	NM_023918	NP_076407	Q9NYW2	TA2R8_HUMAN			1	924	-			308			Cytoplasmic (Potential).		Q4KN29|Q645Y2	Missense_Mutation	SNP	ENST00000240615.2	37	c.924G>A	CCDS8632.1	.	.	.	.	.	.	.	.	.	.	C	8.165	0.790375	0.16258	.	.	ENSG00000121314	ENST00000240615	T	0.00695	5.83	4.88	0.937	0.19494	.	1.650250	0.04419	U	0.367240	T	0.00754	0.0025	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.48433	-0.9036	10	0.37606	T	0.19	.	3.5276	0.07765	0.1758:0.5375:0.0:0.2867	.	308	Q9NYW2	TA2R8_HUMAN	I	308	ENSP00000240615:M308I	ENSP00000240615:M308I	M	-	3	0	TAS2R8	10849923	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.018000	0.12568	-0.000000	0.14550	0.655000	0.94253	ATG		PASS	0.303	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399932.1			8	22	8	22	---	---	---	---
TAS2R20	259295	broad.mit.edu	37	12	11150207	11150207	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr12:11150207C>T	ENST00000538986.1	-	1	267	c.268G>A	c.(268-270)Gta>Ata	p.V90I	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	90					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V90I(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						TGATTGGTTACTGCCCAGGCA	0.328																																						uc001qzm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(268-270)GTA>ATA		taste receptor, type 2, member 20							64.0	69.0	67.0					12																	11150207		2202	4299	6501	SO:0001583	missense	259295				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11150207C>T	AX097732, AF494236	CCDS8639.1	12p13.2	2012-08-22			ENSG00000255837	ENSG00000255837		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19109	protein-coding gene	gene with protein product		613962	"""taste receptor, type 2, member 49"""	TAS2R49			Standard	NM_176889		Approved	T2R20, T2R56	uc001qzm.2	P59543	OTTHUMG00000162695	ENST00000538986.1:c.268G>A	12.37:g.11150207C>T	ENSP00000441624:p.Val90Ile					PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.V90I	NM_176889	NP_795370	P59543	T2R20_HUMAN			1	268	-			90			Helical; Name=3; (Potential).		P59549|Q2HIZ4|Q496D8|Q645X9	Missense_Mutation	SNP	ENST00000538986.1	37	c.268G>A	CCDS8639.1	.	.	.	.	.	.	.	.	.	.	C	7.245	0.602112	0.13939	.	.	ENSG00000255837	ENST00000538986	T	0.00730	5.77	2.77	-0.318	0.12728	.	0.792383	0.10354	N	0.684737	T	0.00784	0.0026	L	0.31207	0.915	0.09310	N	1	B	0.29531	0.247	B	0.33960	0.173	T	0.47195	-0.9136	10	0.40728	T	0.16	.	5.7115	0.17937	0.0:0.4367:0.0:0.5633	.	90	P59543	T2R20_HUMAN	I	90	ENSP00000441624:V90I	ENSP00000441624:V90I	V	-	1	0	TAS2R20	11041474	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.890000	0.00710	0.057000	0.16193	-0.229000	0.12294	GTA		PASS	0.328	TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370130.2	NM_176889		18	64	18	64	---	---	---	---
SLCO1C1	53919	broad.mit.edu	37	12	20893149	20893149	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr12:20893149C>A	ENST00000266509.2	+	12	1948	c.1580C>A	c.(1579-1581)gCa>gAa	p.A527E	SLCO1C1_ENST00000381552.1_Missense_Mutation_p.A527E|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.A478E|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.A527E|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.A409E	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	527					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.A527E(2)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	GTGGGAATTGCAGCTTCTAAA	0.353																																						uc001rej.3																			2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(1)|skin(1)	7						c.(1579-1581)GCA>GAA		solute carrier organic anion transporter family,							148.0	140.0	143.0					12																	20893149		2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20893149C>A	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1580C>A	12.37:g.20893149C>A	ENSP00000266509:p.Ala527Glu					SLCO1C1_uc010sii.1_Missense_Mutation_p.A527E|SLCO1C1_uc010sij.1_Missense_Mutation_p.A478E|SLCO1C1_uc009zip.2_Missense_Mutation_p.A361E|SLCO1C1_uc001rei.2_Missense_Mutation_p.A527E|SLCO1C1_uc010sik.1_Missense_Mutation_p.A409E	p.A527E	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			13	1935	+	Esophageal squamous(101;0.149)		527			Extracellular (Potential).		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.1580C>A	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	C	4.104	0.017301	0.07959	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.38722	1.12;1.21;1.17;1.12;1.2	4.89	1.95	0.26073	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.534254	0.14335	N	0.326098	T	0.25158	0.0611	L	0.38838	1.175	0.09310	N	1	B;B;B;B	0.11235	0.004;0.001;0.003;0.001	B;B;B;B	0.15870	0.012;0.009;0.014;0.013	T	0.33471	-0.9867	10	0.02654	T	1	.	6.4972	0.22148	0.256:0.6019:0.0:0.1421	.	409;478;527;527	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	E	527;478;527;527;409	ENSP00000444149:A527E;ENSP00000438665:A478E;ENSP00000266509:A527E;ENSP00000370964:A527E;ENSP00000444527:A409E	ENSP00000266509:A527E	A	+	2	0	SLCO1C1	20784416	0.000000	0.05858	0.007000	0.13788	0.423000	0.31445	0.108000	0.15396	0.222000	0.20900	0.563000	0.77884	GCA		PASS	0.353	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		6	54	6	54	---	---	---	---
ST8SIA1	6489	broad.mit.edu	37	12	22354570	22354570	+	Silent	SNP	G	G	T	rs113763889	byFrequency	TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr12:22354570G>T	ENST00000396037.4	-	5	1468	c.987C>A	c.(985-987)ctC>ctA	p.L329L	ST8SIA1_ENST00000539510.1_Silent_p.L186L	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	329					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)	p.L329L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						ACCAGAGTTGGAGAAATTCCT	0.493																																						uc001rfo.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(985-987)CTC>CTA		alpha-2,8-sialyltransferase 1							101.0	102.0	102.0					12																	22354570		2203	4300	6503	SO:0001819	synonymous_variant	6489				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr12:22354570G>T	L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"""Sialyltransferases"""	10869	protein-coding gene	gene with protein product	"""ST8Sia I"""	601123	"""sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"""	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.987C>A	12.37:g.22354570G>T						ST8SIA1_uc009zix.2_Silent_p.L186L	p.L329L	NM_003034	NP_003025	Q92185	SIA8A_HUMAN			5	1469	-			329			Lumenal (Potential).		A8K4H6|Q17RL0|Q6PZN5|Q93064	Silent	SNP	ENST00000396037.4	37	c.987C>A	CCDS8697.1																																																																																				PASS	0.493	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034		5	110	5	110	---	---	---	---
KIAA1551	55196	broad.mit.edu	37	12	32145370	32145370	+	Silent	SNP	A	A	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr12:32145370A>G	ENST00000312561.4	+	6	5559	c.5145A>G	c.(5143-5145)ctA>ctG	p.L1715L	KIAA1551_ENST00000535596.1_3'UTR	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1715								p.L1715L(1)									TTGAGATGCTACAAAACCCAG	0.343																																						uc001rks.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(5143-5145)CTA>CTG		hypothetical protein LOC55196							134.0	149.0	144.0					12																	32145370		2203	4300	6503	SO:0001819	synonymous_variant	55196							g.chr12:32145370A>G	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.5145A>G	12.37:g.32145370A>G						C12orf35_uc001rkt.2_RNA	p.L1715L	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		6	5559	+	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		1715					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	ENST00000312561.4	37	c.5145A>G	CCDS8725.2																																																																																				PASS	0.343	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		55	157	55	157	---	---	---	---
NCKAP5L	57701	broad.mit.edu	37	12	50195633	50195633	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr12:50195633G>T	ENST00000335999.6	-	6	550	c.349C>A	c.(349-351)Cag>Aag	p.Q117K		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	113	Pro-rich.							p.Q117K(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						ATGCCTACCTGAGGGAGCGAG	0.582																																						uc009zlk.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(349-351)CAG>AAG		NCK-associated protein 5-like							122.0	138.0	132.0					12																	50195633		2174	4269	6443	SO:0001583	missense	57701							g.chr12:50195633G>T	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.349C>A	12.37:g.50195633G>T	ENSP00000337998:p.Gln117Lys						p.Q117K	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN			6	551	-			113			Pro-rich.		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	ENST00000335999.6	37	c.349C>A	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099844	0.56183	.	.	ENSG00000167566	ENST00000335999;ENST00000354423	T	0.50277	0.75	4.74	4.74	0.60224	.	.	.	.	.	T	0.49133	0.1539	L	0.27053	0.805	0.30682	N	0.752232	P	0.51933	0.949	P	0.55615	0.78	T	0.50701	-0.8797	9	0.49607	T	0.09	-9.0675	12.7558	0.57335	0.0:0.1656:0.8344:0.0	.	113	E2QRB5	.	K	117;113	ENSP00000337998:Q117K	ENSP00000337998:Q117K	Q	-	1	0	NCKAP5L	48481900	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	6.957000	0.76019	2.359000	0.80004	0.561000	0.74099	CAG		PASS	0.582	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		4	47	4	47	---	---	---	---
PAN2	9924	broad.mit.edu	37	12	56713650	56713650	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr12:56713650C>T	ENST00000425394.2	-	21	3332	c.2956G>A	c.(2956-2958)Gag>Aag	p.E986K	PAN2_ENST00000549090.1_5'Flank|PAN2_ENST00000548043.1_Missense_Mutation_p.E986K|PAN2_ENST00000440411.3_Missense_Mutation_p.E982K|PAN2_ENST00000257931.5_Missense_Mutation_p.E985K	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)	p.E982K(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	TTGGTTACCTCATTAAGGGTG	0.448																																						uc001skx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						c.(2956-2958)GAG>AAG		PAN2 polyA specific ribonuclease subunit homolog							126.0	106.0	112.0					12																	56713650		2203	4300	6503	SO:0001583	missense	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56713650C>T	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.2956G>A	12.37:g.56713650C>T	ENSP00000401721:p.Glu986Lys					PAN2_uc001skw.2_Missense_Mutation_p.E134K|PAN2_uc001skz.2_Missense_Mutation_p.E985K|PAN2_uc001sky.2_Missense_Mutation_p.E982K	p.E986K	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			21	3329	-			986			Exonuclease.			Missense_Mutation	SNP	ENST00000425394.2	37	c.2956G>A	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989717	0.54041	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	5.57	5.57	0.84162	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.054987	0.64402	D	0.000001	T	0.14356	0.0347	N	0.13299	0.325	0.49483	D	0.999796	B;B;B	0.15473	0.01;0.005;0.013	B;B;B	0.23150	0.026;0.026;0.044	T	0.09143	-1.0688	10	0.30854	T	0.27	-24.0167	14.3405	0.66622	0.0:0.8515:0.1485:0.0	.	985;982;986	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	K	986;982;985;986	ENSP00000401721:E986K;ENSP00000388231:E982K;ENSP00000257931:E985K;ENSP00000449861:E986K	ENSP00000257931:E985K	E	-	1	0	PAN2	54999917	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.267000	0.65530	2.793000	0.96121	0.591000	0.81541	GAG		PASS	0.448	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		10	40	10	40	---	---	---	---
LRRC10	376132	broad.mit.edu	37	12	70004494	70004494	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr12:70004494C>A	ENST00000361484.3	-	1	448	c.125G>T	c.(124-126)cGc>cTc	p.R42L		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	42					cardiac muscle cell development (GO:0055013)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sarcomere (GO:0030017)		p.R42L(1)		large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GGGGAAGCGGCGTAACTGGCT	0.607																																						uc001svc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(124-126)CGC>CTC		leucine rich repeat containing 10							61.0	48.0	52.0					12																	70004494		2203	4300	6503	SO:0001583	missense	376132					nucleus		g.chr12:70004494C>A	AK095935	CCDS31856.1	12q15	2009-09-08				ENSG00000198812			20264	protein-coding gene	gene with protein product		610846				14751244	Standard	NM_201550		Approved	HRLRRP, LRRC10A	uc001svc.3	Q5BKY1		ENST00000361484.3:c.125G>T	12.37:g.70004494C>A	ENSP00000355166:p.Arg42Leu						p.R42L	NM_201550	NP_963844	Q5BKY1	LRC10_HUMAN	Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		1	449	-	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		42					Q6ZVY4	Missense_Mutation	SNP	ENST00000361484.3	37	c.125G>T	CCDS31856.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284777	0.80803	.	.	ENSG00000198812	ENST00000361484	T	0.24538	1.85	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.37972	0.1023	M	0.68593	2.085	0.58432	D	0.999999	P	0.48589	0.912	P	0.46208	0.507	T	0.06232	-1.0838	10	0.37606	T	0.19	.	20.0275	0.97527	0.0:1.0:0.0:0.0	.	42	Q5BKY1	LRC10_HUMAN	L	42	ENSP00000355166:R42L	ENSP00000355166:R42L	R	-	2	0	LRRC10	68290761	1.000000	0.71417	0.963000	0.40424	0.357000	0.29423	7.744000	0.85034	2.811000	0.96726	0.555000	0.69702	CGC		PASS	0.607	LRRC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403834.1	NM_201550		3	27	3	27	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78522538	78522538	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr12:78522538C>T	ENST00000397909.2	+	18	4506	c.4333C>T	c.(4333-4335)Cgt>Tgt	p.R1445C	NAV3_ENST00000266692.7_Missense_Mutation_p.R1268C|NAV3_ENST00000228327.6_Missense_Mutation_p.R1445C|NAV3_ENST00000536525.2_Missense_Mutation_p.R1445C			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1445	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.R1445C(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGAGTGGTTGCGTTCTCATTC	0.498										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(4333-4335)CGT>TGT		neuron navigator 3							136.0	134.0	135.0					12																	78522538		1989	4163	6152	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78522538C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4333C>T	12.37:g.78522538C>T	ENSP00000381007:p.Arg1445Cys	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.R1445C|NAV3_uc010sub.1_Missense_Mutation_p.R931C|NAV3_uc009zsf.2_Missense_Mutation_p.R276C	p.R1445C	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			18	4506	+			1445			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.4333C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.3|23.3	4.398948|4.398948	0.83120|0.83120	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	.|T;T;T;T;T	.|0.39592	.|1.09;1.07;1.11;1.23;2.15	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.000000	.|0.39020	.|U	.|0.001490	T|T	0.66076|0.66076	0.2753|0.2753	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.87578	.|0.985;0.996;0.998;0.998	T|T	0.66756|0.66756	-0.5843|-0.5843	5|10	.|0.87932	.|D	.|0	-14.257|-14.257	20.0755|20.0755	0.97742|0.97742	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1445;1268;1445;1445	.|E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.|.;.;NAV3_HUMAN;.	V|C	339|1445;1445;1445;1268;66;74	.|ENSP00000446132:R1445C;ENSP00000381007:R1445C;ENSP00000228327:R1445C;ENSP00000266692:R1268C;ENSP00000448303:R74C	.|ENSP00000228327:R1445C	A|R	+|+	2|1	0|0	NAV3|NAV3	77046669|77046669	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.992000|0.992000	0.81027|0.81027	4.816000|4.816000	0.62642|0.62642	2.749000|2.749000	0.94314|0.94314	0.460000|0.460000	0.39030|0.39030	GCG|CGT		PASS	0.498	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		20	55	20	55	---	---	---	---
HAL	3034	broad.mit.edu	37	12	96387243	96387243	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr12:96387243C>A	ENST00000261208.3	-	8	943	c.575G>T	c.(574-576)cGc>cTc	p.R192L	HAL_ENST00000538703.1_Missense_Mutation_p.R192L|HAL_ENST00000551562.1_5'Flank|HAL_ENST00000541929.1_5'UTR	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	192					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)	p.R192L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	AGAATGTGAGCGTACTAAGTT	0.428																																					NSCLC(169;943 2815 23563 30031)	uc001tem.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(574-576)CGC>CTC		histidine ammonia-lyase	L-Histidine(DB00117)						122.0	104.0	110.0					12																	96387243		2203	4300	6503	SO:0001583	missense	3034				biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	g.chr12:96387243C>A		CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.575G>T	12.37:g.96387243C>A	ENSP00000261208:p.Arg192Leu					HAL_uc009zti.1_RNA|HAL_uc010suw.1_5'UTR|HAL_uc010sux.1_Missense_Mutation_p.R192L	p.R192L	NM_002108	NP_002099	P42357	HUTH_HUMAN			8	872	-			192					B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	ENST00000261208.3	37	c.575G>T	CCDS9058.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059702	0.55325	.	.	ENSG00000084110	ENST00000261208;ENST00000538703;ENST00000552509;ENST00000546579	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.3	5.3	0.74995	L-Aspartase-like (1);L-Aspartase-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83008	0.5161	M	0.63208	1.945	0.80722	D	1	D;P	0.67145	0.996;0.882	D;P	0.64877	0.93;0.797	T	0.78181	-0.2304	10	0.08837	T	0.75	-11.7777	14.8679	0.70430	0.0:0.8567:0.1433:0.0	.	192;192	F5GXF2;P42357	.;HUTH_HUMAN	L	192;192;180;102	ENSP00000261208:R192L;ENSP00000440861:R192L;ENSP00000450372:R180L;ENSP00000447543:R102L	ENSP00000261208:R192L	R	-	2	0	HAL	94911374	1.000000	0.71417	0.862000	0.33874	0.398000	0.30690	4.632000	0.61311	2.629000	0.89072	0.561000	0.74099	CGC		PASS	0.428	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1			14	55	14	55	---	---	---	---
ASCL4	121549	broad.mit.edu	37	12	108169032	108169032	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr12:108169032C>A	ENST00000342331.4	+	1	871	c.40C>A	c.(40-42)Cca>Aca	p.P14T		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	13					regulation of transcription from RNA polymerase II promoter (GO:0006357)|skin development (GO:0043588)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P13T(1)		breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						GCTGGCCTTGCCATACTCGCT	0.637																																					GBM(170;776 3695 11650)	uc001tmr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(40-42)CCA>ACA		achaete-scute complex-like 4							59.0	66.0	63.0					12																	108169032		2203	4300	6503	SO:0001583	missense	121549				regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:108169032C>A	AY238895	CCDS31894.2	12q24.11	2013-10-17	2013-10-17		ENSG00000187855	ENSG00000187855		"""Basic helix-loop-helix proteins"""	24311	protein-coding gene	gene with protein product		609155	"""achaete-scute complex-like 4 (Drosophila)"", ""achaete-scute complex homolog 4 (Drosophila)"""				Standard	NM_203436		Approved	HASH4, bHLHa44	uc001tmr.3	Q6XD76	OTTHUMG00000156964	ENST00000342331.4:c.40C>A	12.37:g.108169032C>A	ENSP00000345420:p.Pro14Thr						p.P14T	NM_203436	NP_982260	Q6XD76	ASCL4_HUMAN			1	871	+			13					Q7RTS2	Missense_Mutation	SNP	ENST00000342331.4	37	c.40C>A	CCDS31894.2	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714685	0.30413	.	.	ENSG00000187855	ENST00000342331	D	0.96396	-4.0	4.74	2.76	0.32466	.	0.515562	0.16804	N	0.198855	D	0.90466	0.7014	L	0.29908	0.895	0.09310	N	1	B	0.26120	0.142	B	0.24701	0.055	T	0.79577	-0.1746	10	0.15952	T	0.53	-19.0467	5.9959	0.19493	0.2921:0.609:0.0:0.0988	.	13	Q6XD76	ASCL4_HUMAN	T	14	ENSP00000345420:P14T	ENSP00000345420:P14T	P	+	1	0	ASCL4	106693162	0.102000	0.21896	0.041000	0.18516	0.143000	0.21401	2.295000	0.43576	1.128000	0.42052	0.484000	0.47621	CCA		PASS	0.637	ASCL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346845.1	NM_203436		14	40	14	40	---	---	---	---
CORO1C	23603	broad.mit.edu	37	12	109052593	109052593	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr12:109052593C>T	ENST00000261401.3	-	5	723	c.551G>A	c.(550-552)cGg>cAg	p.R184Q	CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000541050.1_Missense_Mutation_p.R184Q|CORO1C_ENST00000549772.1_Missense_Mutation_p.R190Q|CORO1C_ENST00000421578.2_Missense_Mutation_p.R79Q|CORO1C_ENST00000420959.2_Missense_Mutation_p.R237Q	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	184					actin cytoskeleton organization (GO:0030036)|phagocytosis (GO:0006909)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.R184Q(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						ACTGCCATTCCGGTTCCAGCT	0.428																																						uc001tnj.2																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(550-552)CGG>CAG		coronin, actin binding protein, 1C isoform 1							207.0	183.0	191.0					12																	109052593		2203	4300	6503	SO:0001583	missense	23603				actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding	g.chr12:109052593C>T	BC002342	CCDS9120.1, CCDS61236.1	12q24.1	2013-01-10	2001-11-28			ENSG00000110880		"""Coronins"", ""WD repeat domain containing"""	2254	protein-coding gene	gene with protein product		605269	"""coronin, actin-binding protein, 1C"""			9778037, 10461187	Standard	NM_014325		Approved	coronin-3, HCRNN4	uc009zva.4	Q9ULV4		ENST00000261401.3:c.551G>A	12.37:g.109052593C>T	ENSP00000261401:p.Arg184Gln					CORO1C_uc009zva.2_Missense_Mutation_p.R237Q|CORO1C_uc010sxf.1_Missense_Mutation_p.R147Q	p.R184Q	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN			5	647	-			184			WD 3.		A7MAP0|A7MAP1|B3KU12|Q9NSK5	Missense_Mutation	SNP	ENST00000261401.3	37	c.551G>A	CCDS9120.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077407	0.76528	.	.	ENSG00000110880	ENST00000261401;ENST00000541050;ENST00000421578;ENST00000549772;ENST00000420959;ENST00000552871	T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33	5.81	5.81	0.92471	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.51719	0.1691	L	0.41415	1.275	0.80722	D	1	B;P;B	0.37864	0.35;0.61;0.136	B;B;B	0.35607	0.206;0.019;0.028	T	0.46162	-0.9211	10	0.29301	T	0.29	-13.2904	20.0912	0.97820	0.0:1.0:0.0:0.0	.	147;237;184	B4DMH3;A7MAP1;Q9ULV4	.;.;COR1C_HUMAN	Q	184;184;79;190;237;79	ENSP00000261401:R184Q;ENSP00000438341:R184Q;ENSP00000415554:R79Q;ENSP00000447534:R190Q;ENSP00000394496:R237Q;ENSP00000449658:R79Q	ENSP00000261401:R184Q	R	-	2	0	CORO1C	107576722	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.742000	0.68646	2.746000	0.94184	0.591000	0.81541	CGG		PASS	0.428	CORO1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403802.1	NM_014325		16	51	16	51	---	---	---	---
ACACB	32	broad.mit.edu	37	12	109698427	109698427	+	Silent	SNP	G	G	T	rs61753862	byFrequency	TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr12:109698427G>T	ENST00000338432.7	+	48	6758	c.6639G>T	c.(6637-6639)ccG>ccT	p.P2213P	ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377854.5_Silent_p.P2143P|ACACB_ENST00000377848.3_Silent_p.P2213P			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2213	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.P2213P(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CCATCAACCCGCTGTGCATAG	0.542																																						uc001tob.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(6637-6639)CCG>CCT		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)	G		0,4406		0,0,2203	138.0	140.0	139.0		6639	-1.8	1.0	12	dbSNP_129	139	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ACACB	NM_001093.3		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077		2213/2459	109698427	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109698427G>T	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.6639G>T	12.37:g.109698427G>T						ACACB_uc001toc.2_Silent_p.P2213P|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Silent_p.P879P	p.P2213P	NM_001093	NP_001084	O00763	ACACB_HUMAN			48	6758	+			2213			Carboxyltransferase.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.6639G>T	CCDS31898.1																																																																																				PASS	0.542	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		21	90	21	90	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112694272	112694272	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr12:112694272G>T	ENST00000430131.2	-	20	3028	c.1883C>A	c.(1882-1884)cCt>cAt	p.P628H	HECTD4_ENST00000550722.1_Missense_Mutation_p.P914H|RP3-521E19.2_ENST00000547401.1_RNA|HECTD4_ENST00000377560.5_Missense_Mutation_p.P878H			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	628					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.P878H(1)|p.P628H(1)									CCATGGGGCAGGAATCTTTAA	0.448																																						uc009zwc.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(1882-1884)CCT>CAT		chromosome 12 open reading frame 51							51.0	52.0	52.0					12																	112694272		2203	4300	6503	SO:0001583	missense	283450							g.chr12:112694272G>T	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.1883C>A	12.37:g.112694272G>T	ENSP00000404379:p.Pro628His					C12orf51_uc010syk.1_Missense_Mutation_p.P451H|C12orf51_uc001tts.2_Missense_Mutation_p.P451H|C12orf51_uc001ttt.3_Missense_Mutation_p.P449H	p.P628H	NM_001109662	NP_001103132					14	1901	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.1883C>A		.	.	.	.	.	.	.	.	.	.	G	31	5.083701	0.94050	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.54479	0.58;0.59;0.57	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.62636	0.2444	N	0.24115	0.695	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.994;0.996	T	0.65981	-0.6036	10	0.87932	D	0	.	19.1125	0.93323	0.0:0.0:1.0:0.0	.	628;628;628	Q9Y4D8-2;Q9Y4D8;Q9Y4D8-3	.;K0614_HUMAN;.	H	878;628;914	ENSP00000366783:P878H;ENSP00000404379:P628H;ENSP00000449784:P914H	ENSP00000366783:P878H	P	-	2	0	C12orf51	111178655	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.182000	0.94881	2.820000	0.97059	0.655000	0.94253	CCT		PASS	0.448	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		4	30	4	30	---	---	---	---
MSI1	4440	broad.mit.edu	37	12	120789151	120789151	+	Silent	SNP	A	A	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr12:120789151A>G	ENST00000257552.2	-	11	874	c.786T>C	c.(784-786)ctT>ctC	p.L262L	MSI1_ENST00000546622.1_5'Flank	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	262					epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)	p.L262L(1)		breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTGACCTGTAAGCTCGGGGA	0.557																																						uc001tye.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|breast(1)	3						c.(784-786)CTT>CTC		musashi 1							38.0	41.0	40.0					12																	120789151		2203	4299	6502	SO:0001819	synonymous_variant	4440				nervous system development	cytoplasm|nucleus	nucleotide binding	g.chr12:120789151A>G	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	7330	protein-coding gene	gene with protein product		603328	"""Musashi (Drosophila) homolog 1"", ""musashi homolog 1 (Drosophila)"""			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.786T>C	12.37:g.120789151A>G							p.L262L	NM_002442	NP_002433	O43347	MSI1H_HUMAN			11	850	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		262					Q96PU0|Q96PU1|Q96PU2|Q96PU3	Silent	SNP	ENST00000257552.2	37	c.786T>C	CCDS9196.1																																																																																				PASS	0.557	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		11	10	11	10	---	---	---	---
TCTN2	79867	broad.mit.edu	37	12	124163813	124163813	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr12:124163813G>A	ENST00000303372.5	+	5	669	c.541G>A	c.(541-543)Gat>Aat	p.D181N	TCTN2_ENST00000426174.2_Missense_Mutation_p.D180N	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	181	Cys-rich.				cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.D181N(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TGGAGCCTGTGATGTTCGCTG	0.458																																						uc001ufp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(541-543)GAT>AAT		tectonic family member 2 isoform 1							227.0	200.0	209.0					12																	124163813		2203	4300	6503	SO:0001583	missense	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124163813G>A	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.541G>A	12.37:g.124163813G>A	ENSP00000304941:p.Asp181Asn					TCTN2_uc009zya.2_Missense_Mutation_p.D180N	p.D181N	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	5	669	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		181			Extracellular (Potential).|Cys-rich.		A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	ENST00000303372.5	37	c.541G>A	CCDS9253.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887960	0.91814	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.96554	-4.05;-4.05	5.05	5.05	0.67936	Domain of unknown function DUF1619 (1);	0.000000	0.85682	D	0.000000	D	0.98108	0.9376	M	0.82517	2.595	0.51482	D	0.999927	D;D	0.71674	0.998;0.998	D;D	0.70935	0.971;0.971	D	0.99204	1.0874	10	0.87932	D	0	-6.9701	18.0585	0.89370	0.0:0.0:1.0:0.0	.	180;181	A8K7Y8;Q96GX1	.;TECT2_HUMAN	N	180;181	ENSP00000395171:D180N;ENSP00000304941:D181N	ENSP00000304941:D181N	D	+	1	0	TCTN2	122729766	1.000000	0.71417	0.986000	0.45419	0.965000	0.64279	6.567000	0.73983	2.343000	0.79666	0.416000	0.27883	GAT		PASS	0.458	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		24	56	24	56	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124257441	124257441	+	Nonsense_Mutation	SNP	G	G	T	rs142898915		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr12:124257441G>T	ENST00000409039.3	+	4	299	c.274G>T	c.(274-276)Gag>Tag	p.E92*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	92	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E92*(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCCTCTTCCCGAGGAGTTCCT	0.468																																						uc001uft.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(274-276)GAG>TAG		dynein, axonemal, heavy chain 10							169.0	164.0	166.0					12																	124257441		1937	4159	6096	SO:0001587	stop_gained	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124257441G>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.274G>T	12.37:g.124257441G>T	ENSP00000386770:p.Glu92*						p.E92*	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	4	299	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		92			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Nonsense_Mutation	SNP	ENST00000409039.3	37	c.274G>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806205	0.50421	.	.	ENSG00000197653	ENST00000409039	.	.	.	5.93	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	14.4837	0.67599	0.1028:0.0:0.8972:0.0	.	.	.	.	X	92	.	ENSP00000386770:E92X	E	+	1	0	DNAH10	122823394	0.972000	0.33761	0.307000	0.25127	0.000000	0.00434	1.724000	0.38064	0.438000	0.26450	-1.736000	0.00690	GAG		PASS	0.468	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			5	162	5	162	---	---	---	---
ZDHHC20	253832	broad.mit.edu	37	13	21976986	21976986	+	Silent	SNP	T	T	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr13:21976986T>C	ENST00000400590.3	-	5	588	c.390A>G	c.(388-390)aaA>aaG	p.K130K	ZDHHC20_ENST00000542645.1_Silent_p.K67K|ZDHHC20_ENST00000382466.3_Silent_p.K130K|ZDHHC20_ENST00000494731.1_5'UTR|ZDHHC20_ENST00000320220.9_Silent_p.K130K|ZDHHC20_ENST00000415724.1_Silent_p.K130K			Q5W0Z9	ZDH20_HUMAN	zinc finger, DHHC-type containing 20	130					protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.K130K(2)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)		TCAGCTGACATTTTTCACAAT	0.358																																						uc001uob.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(388-390)AAA>AAG		zinc finger, DHHC-type containing 20							67.0	65.0	65.0					13																	21976986		1867	4109	5976	SO:0001819	synonymous_variant	253832					integral to membrane	acyltransferase activity|zinc ion binding	g.chr13:21976986T>C	AK090979	CCDS45017.1, CCDS73551.1	13q12.11	2008-10-21			ENSG00000180776	ENSG00000180776		"""Zinc fingers, DHHC-type"""	20749	protein-coding gene	gene with protein product							Standard	NM_153251		Approved	FLJ25952	uc001uoa.2	Q5W0Z9	OTTHUMG00000017410	ENST00000400590.3:c.390A>G	13.37:g.21976986T>C						ZDHHC20_uc001uod.2_RNA|ZDHHC20_uc001uoc.2_RNA|ZDHHC20_uc001uoe.2_RNA|ZDHHC20_uc010tcs.1_Silent_p.K67K	p.K130K	NM_153251	NP_694983	Q5W0Z9	ZDH20_HUMAN		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)	5	503	-		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)	130			DHHC-type.		A8MTV9|C9JG20|I6L9D4|Q2TB82|Q6NVU8	Silent	SNP	ENST00000400590.3	37	c.390A>G																																																																																					PASS	0.358	ZDHHC20-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000045994.1	NM_153251		6	19	6	19	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23906130	23906130	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr13:23906130A>G	ENST00000382292.3	-	9	12158	c.11885T>C	c.(11884-11886)aTa>aCa	p.I3962T	SACS_ENST00000382298.3_Missense_Mutation_p.I3962T|SACS_ENST00000402364.1_Missense_Mutation_p.I3212T			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3962					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.I3815T(1)|p.I3962T(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)		AAAGAGCATTATCAACTTAGT	0.383																																						uc001uon.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(11884-11886)ATA>ACA		sacsin							126.0	123.0	124.0					13																	23906130		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23906130A>G	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.11885T>C	13.37:g.23906130A>G	ENSP00000371729:p.Ile3962Thr					SACS_uc001uoo.2_Missense_Mutation_p.I3815T|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.I3962T	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	12474	-		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)	3962					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.11885T>C	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	A	14.27	2.485951	0.44147	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.89270	-2.35;-2.49;-2.35	5.64	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.82098	0.4963	L	0.27053	0.805	0.48395	D	0.999649	B	0.10296	0.003	B	0.06405	0.002	T	0.76710	-0.2859	10	0.66056	D	0.02	.	11.8059	0.52155	0.9307:0.0:0.0693:0.0	.	3962	Q9NZJ4	SACS_HUMAN	T	3962;3212;3962	ENSP00000371729:I3962T;ENSP00000385844:I3212T;ENSP00000371735:I3962T	ENSP00000371729:I3962T	I	-	2	0	SACS	22804130	1.000000	0.71417	0.120000	0.21714	0.429000	0.31625	6.314000	0.72848	0.939000	0.37446	0.533000	0.62120	ATA		PASS	0.383	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		31	69	31	69	---	---	---	---
N4BP2L2	10443	broad.mit.edu	37	13	33110164	33110164	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr13:33110164T>C	ENST00000267068.3	-	2	1165	c.1001A>G	c.(1000-1002)aAc>aGc	p.N334S	N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.N334S|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000357505.6_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	334					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.N334S(1)		kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		ATATTCATTGTTCTGATCAAA	0.358																																						uc001uuk.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1000-1002)AAC>AGC		phosphonoformate immuno-associated protein 5							85.0	83.0	84.0					13																	33110164		2203	4300	6503	SO:0001583	missense	10443							g.chr13:33110164T>C	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000267068.3:c.1001A>G	13.37:g.33110164T>C	ENSP00000267068:p.Asn334Ser					N4BP2L2_uc010abe.1_Intron|N4BP2L2_uc010tdz.1_Intron|N4BP2L2_uc001uul.1_Missense_Mutation_p.N334S|N4BP2L2_uc001uum.2_5'Flank	p.N334S	NM_014887	NP_055702	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	2	1179	-		Lung SC(185;0.0262)	334					A3KME8	Missense_Mutation	SNP	ENST00000267068.3	37	c.1001A>G	CCDS9346.1	.	.	.	.	.	.	.	.	.	.	T	4.353	0.065051	0.08388	.	.	ENSG00000244754	ENST00000446957;ENST00000505213;ENST00000267068	T;T;T	0.47177	0.86;0.86;0.85	5.94	-4.94	0.03057	.	.	.	.	.	T	0.32585	0.0834	L	0.45581	1.43	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.27706	-1.0066	9	0.32370	T	0.25	0.5148	5.2764	0.15651	0.0978:0.4405:0.0911:0.3706	.	334;334	D6R968;Q92802	.;N42L2_HUMAN	S	334	ENSP00000394239:N334S;ENSP00000423362:N334S;ENSP00000267068:N334S	ENSP00000267068:N334S	N	-	2	0	N4BP2L2	32008164	0.000000	0.05858	0.002000	0.10522	0.481000	0.33189	-0.680000	0.05197	-0.660000	0.05352	-2.125000	0.00346	AAC		PASS	0.358	N4BP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044421.1	NM_014887		10	30	10	30	---	---	---	---
CSNK1A1L	122011	broad.mit.edu	37	13	37679333	37679333	+	Missense_Mutation	SNP	G	G	C	rs56158728	byFrequency	TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr13:37679333G>C	ENST00000379800.3	-	1	470	c.61C>G	c.(61-63)Cgg>Ggg	p.R21G		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	21	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> Q (in a colorectal cancer sample; somatic mutation; dbSNP:rs56158728). {ECO:0000269|PubMed:16959974}.|R -> W (in dbSNP:rs56158728). {ECO:0000269|PubMed:17344846}.		cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R21G(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		CCGATCTTCCGCACCAGTTTG	0.557																																						uc001uwm.1																			1	Substitution - Missense(1)	p.R21Q(1)	lung(1)	large_intestine(1)	1						c.(61-63)CGG>GGG		casein kinase 1, alpha 1-like							118.0	110.0	113.0					13																	37679333		2203	4300	6503	SO:0001583	missense	122011				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr13:37679333G>C	BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.61C>G	13.37:g.37679333G>C	ENSP00000369126:p.Arg21Gly						p.R21G	NM_145203	NP_660204	Q8N752	KC1AL_HUMAN		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)	1	469	-		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)	21		R -> W.	Protein kinase.		Q5T2N2	Missense_Mutation	SNP	ENST00000379800.3	37	c.61C>G	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138816	0.37728	.	.	ENSG00000180138	ENST00000379800	T	0.20598	2.06	0.858	-0.308	0.12773	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	M	0.91972	3.26	0.40212	D	0.977637	D	0.65815	0.995	D	0.67382	0.951	T	0.39251	-0.9623	10	0.87932	D	0	.	5.4779	0.16706	0.0:0.0:0.6765:0.3234	.	21	Q8N752	KC1AL_HUMAN	G	21	ENSP00000369126:R21G	ENSP00000369126:R21G	R	-	1	2	CSNK1A1L	36577333	0.998000	0.40836	0.925000	0.36789	0.986000	0.74619	0.298000	0.19120	-0.147000	0.11254	0.561000	0.74099	CGG		PASS	0.557	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203		17	31	17	31	---	---	---	---
UFM1	51569	broad.mit.edu	37	13	38934882	38934882	+	Silent	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr13:38934882G>A	ENST00000239878.4	+	6	264	c.225G>A	c.(223-225)cgG>cgA	p.R75R	UFM1_ENST00000379641.1_Silent_p.R93R|UFM1_ENST00000379649.1_Silent_p.R93R	NM_016617.2	NP_057701.1	P61960	UFM1_HUMAN	ubiquitin-fold modifier 1	75					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.R75R(1)		lung(2)|ovary(1)	3		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132)		CAGAACTGCGGATTATTCCTA	0.284																																						uc001uwu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(223-225)CGG>CGA		ubiquitin-fold modifier 1 precursor							115.0	109.0	111.0					13																	38934882		2202	4300	6502	SO:0001819	synonymous_variant	51569				protein ufmylation	cytoplasm|nucleus	protein binding	g.chr13:38934882G>A	AF208844	CCDS9366.1, CCDS66533.1	13q13.3	2008-02-05	2005-05-27	2005-05-27	ENSG00000120686	ENSG00000120686			20597	protein-coding gene	gene with protein product		610553	"""chromosome 13 open reading frame 20"""	C13orf20		15071506	Standard	NM_001286706		Approved	bA131P10.1	uc001uwu.3	P61960	OTTHUMG00000017409	ENST00000239878.4:c.225G>A	13.37:g.38934882G>A						UFM1_uc010aca.2_3'UTR	p.R75R	NM_016617	NP_057701	P61960	UFM1_HUMAN		all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132)	6	340	+		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)	75					Q14346|Q5VXS0|Q6IAG6|Q9CPX2|Q9NZF2	Silent	SNP	ENST00000239878.4	37	c.225G>A	CCDS9366.1																																																																																				PASS	0.284	UFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045989.1	NM_016617		7	28	7	28	---	---	---	---
PCDH20	64881	broad.mit.edu	37	13	61986832	61986832	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr13:61986832C>A	ENST00000409186.1	-	5	3505	c.1400G>T	c.(1399-1401)tGc>tTc	p.C467F	PCDH20_ENST00000409204.4_Missense_Mutation_p.C467F			Q8N6Y1	PCD20_HUMAN	protocadherin 20	467	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.C440F(1)|p.C467F(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ATCCAGGTAGCAGTTAACCTT	0.403																																						uc001vid.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(1)|central_nervous_system(1)	6						c.(1399-1401)TGC>TTC		protocadherin 20							115.0	113.0	113.0					13																	61986832		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986832C>A	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1400G>T	13.37:g.61986832C>A	ENSP00000386653:p.Cys467Phe					PCDH20_uc010thj.1_Missense_Mutation_p.C467F	p.C467F	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	2	1764	-		Breast(118;0.195)|Prostate(109;0.229)	440			Cadherin 3.|Extracellular (Potential).		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.1400G>T	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357333	0.61293	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.55930	0.49;0.49	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000001	T	0.69700	0.3140	M	0.85859	2.78	0.80722	D	1	D	0.60160	0.987	P	0.50708	0.648	T	0.74362	-0.3690	10	0.62326	D	0.03	.	20.2768	0.98488	0.0:1.0:0.0:0.0	.	467	A8K1K9	.	F	467;467;213	ENSP00000387250:C467F;ENSP00000386653:C467F	ENSP00000351500:C213F	C	-	2	0	PCDH20	60884833	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.770000	0.85390	2.808000	0.96608	0.650000	0.86243	TGC		PASS	0.403	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		6	45	6	45	---	---	---	---
DACH1	1602	broad.mit.edu	37	13	72014822	72014822	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr13:72014822C>A	ENST00000359684.2	-	12	2247	c.2248G>T	c.(2248-2250)Gga>Tga	p.G750*	DACH1_ENST00000354591.4_Nonsense_Mutation_p.G496*|DACH1_ENST00000313174.7_Nonsense_Mutation_p.G550*|DACH1_ENST00000305425.4_Nonsense_Mutation_p.G698*			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	750					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)	p.G698*(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TACAGTCTTCCATCTAGAAAT	0.313																																						uc010thn.1																			1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(2086-2088)GGA>TGA		dachshund homolog 1 isoform a							84.0	83.0	83.0					13																	72014822		1805	4055	5860	SO:0001587	stop_gained	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72014822C>A	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.2248G>T	13.37:g.72014822C>A	ENSP00000352712:p.Gly750*					DACH1_uc010tho.1_Nonsense_Mutation_p.G548*|DACH1_uc010thp.1_Nonsense_Mutation_p.G494*	p.G696*	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	12	2509	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	748					D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Nonsense_Mutation	SNP	ENST00000359684.2	37	c.2086G>T		.	.	.	.	.	.	.	.	.	.	C	39	7.910507	0.98557	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000354591;ENST00000359684	.	.	.	5.31	5.31	0.75309	.	0.191251	0.44902	D	0.000418	.	.	.	.	.	.	0.52099	D	0.999941	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-0.5155	18.9765	0.92738	0.0:1.0:0.0:0.0	.	.	.	.	X	698;550;496;750	.	ENSP00000304994:G698X	G	-	1	0	DACH1	70912823	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.296000	0.65698	2.481000	0.83766	0.585000	0.79938	GGA		PASS	0.313	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		4	55	4	55	---	---	---	---
EDNRB	1910	broad.mit.edu	37	13	78492262	78492262	+	Silent	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr13:78492262C>A	ENST00000334286.5	-	1	683	c.447G>T	c.(445-447)ctG>ctT	p.L149L	EDNRB_ENST00000475537.1_5'Flank|EDNRB_ENST00000446573.1_Silent_p.L149L|RNF219-AS1_ENST00000607862.1_RNA|EDNRB_ENST00000377211.4_Silent_p.L239L	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	149					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)	p.L149L(1)|p.L239L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	TGACGATGTGCAGCAGGTCTC	0.517																																						uc001vko.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(445-447)CTG>CTT		endothelin receptor type B isoform 1 precursor	Bosentan(DB00559)						131.0	120.0	124.0					13																	78492262		2203	4300	6503	SO:0001819	synonymous_variant	1910				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	g.chr13:78492262C>A	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.447G>T	13.37:g.78492262C>A						uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Silent_p.L149L|EDNRB_uc010aez.1_Silent_p.L149L|EDNRB_uc001vkp.1_Silent_p.L232L|EDNRB_uc010afa.1_Silent_p.L149L	p.L149L	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN		GBM - Glioblastoma multiforme(99;0.0933)	1	705	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	149			Helical; Name=2; (Potential).		A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Silent	SNP	ENST00000334286.5	37	c.447G>T	CCDS9461.1																																																																																				PASS	0.517	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1			32	89	32	89	---	---	---	---
CLDN10	9071	broad.mit.edu	37	13	96086145	96086145	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr13:96086145G>A	ENST00000376873.3	+	1	288	c.58G>A	c.(58-60)Gtt>Att	p.V20I		NM_001160100.1|NM_182848.3	NP_001153572.1|NP_878268.1	P78369	CLD10_HUMAN	claudin 10	22					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|ion transport (GO:0006811)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.V20I(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			TGGAGCTCTCGTTGCTGCTAC	0.592																																						uc001vmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(58-60)GTT>ATT		claudin 10 isoform a							155.0	110.0	125.0					13																	96086145		2203	4300	6503	SO:0001583	missense	9071				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr13:96086145G>A	U89916	CCDS9475.1, CCDS9476.1	13q31-q34	2008-07-18			ENSG00000134873	ENSG00000134873		"""Claudins"""	2033	protein-coding gene	gene with protein product						18025272	Standard	NM_182848		Approved	OSP-L, CPETRL3	uc001vmh.2	P78369	OTTHUMG00000017217	ENST00000376873.3:c.58G>A	13.37:g.96086145G>A	ENSP00000366069:p.Val20Ile					CLDN10_uc010tii.1_Missense_Mutation_p.V20I	p.V20I	NM_182848	NP_878268	P78369	CLD10_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.18)		1	293	+	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q6IBF9|Q96N78	Missense_Mutation	SNP	ENST00000376873.3	37	c.58G>A	CCDS9475.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.525398	0.27299	.	.	ENSG00000134873	ENST00000376873	D	0.89485	-2.52	5.44	3.33	0.38152	.	.	.	.	.	T	0.70718	0.3256	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.62378	-0.6867	8	0.02654	T	1	.	4.569	0.12200	0.3636:0.0:0.6364:0.0	.	20	Q96N78	.	I	20	ENSP00000366069:V20I	ENSP00000366069:V20I	V	+	1	0	CLDN10	94884146	1.000000	0.71417	0.149000	0.22428	0.854000	0.48673	4.372000	0.59530	1.436000	0.47453	0.563000	0.77884	GTT		PASS	0.592	CLDN10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045483.3	NM_006984		14	23	14	23	---	---	---	---
DOCK9	23348	broad.mit.edu	37	13	99452707	99452707	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr13:99452707C>G	ENST00000376460.1	-	53	5873	c.5793G>C	c.(5791-5793)aaG>aaC	p.K1931N	DOCK9_ENST00000339416.2_Missense_Mutation_p.K1918N	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1932	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K1932N(1)|p.K1931N(1)		breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGATGCGCTTCTTCACATAAG	0.507																																						uc001vnt.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(5794-5796)AAG>AAC		dedicator of cytokinesis 9 isoform a							60.0	61.0	61.0					13																	99452707		2113	4238	6351	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99452707C>G	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.5793G>C	13.37:g.99452707C>G	ENSP00000365643:p.Lys1931Asn					DOCK9_uc001vnw.2_Missense_Mutation_p.K1931N|DOCK9_uc001vnq.2_Missense_Mutation_p.K479N|DOCK9_uc001vnr.2_Missense_Mutation_p.K561N|DOCK9_uc010tin.1_Missense_Mutation_p.K550N|DOCK9_uc001vns.2_Missense_Mutation_p.K467N|DOCK9_uc010tio.1_Missense_Mutation_p.K587N|DOCK9_uc010tip.1_Missense_Mutation_p.K628N	p.K1932N	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN			52	5851	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		1932			DHR-2.		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.5796G>C	CCDS45062.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	20.7|20.7|20.7	4.026998|4.026998|4.026998	0.75390|0.75390|0.75390	.|.|.	.|.|.	ENSG00000088387|ENSG00000088387|ENSG00000088387	ENST00000400228|ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000376453|ENST00000419908	.|T;T|.	.|0.20881|.	.|2.04;2.04|.	5.32|5.32|5.32	3.57|3.57|3.57	0.40892|0.40892|0.40892	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.79805|0.79805|0.79805	0.4509|0.4509|0.4509	M|M|M	0.92691|0.92691|0.92691	3.335|3.335|3.335	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;D;D;D;D|.	.|0.89917|.	.|1.0;0.998;1.0;0.997;1.0;0.997|.	.|D;D;D;D;D;D|.	.|0.85130|.	.|0.995;0.992;0.997;0.986;0.996;0.986|.	T|T|T	0.83072|0.83072|0.83072	-0.0142|-0.0142|-0.0142	5|10|5	.|0.87932|.	.|D|.	.|0|.	.|.|.	10.0433|10.0433|10.0433	0.42171|0.42171|0.42171	0.0:0.7856:0.0:0.2144|0.0:0.7856:0.0:0.2144|0.0:0.7856:0.0:0.2144	.|.|.	.|637;550;1931;1932;587;549|.	.|B7Z6H5;B7Z2J2;Q9BZ29-5;Q9BZ29;B7Z6G9;F5H1Q4|.	.|.;.;.;DOCK9_HUMAN;.;.|.	Q|N|T	494|1931;1932;1924;1909;1931;839;1918;549|335	.|ENSP00000365643:K1931N;ENSP00000341086:K1918N|.	.|ENSP00000341086:K1918N|.	E|K|R	-|-|-	1|3|2	0|2|0	DOCK9|DOCK9|DOCK9	98250708|98250708|98250708	0.998000|0.998000|0.998000	0.40836|0.40836|0.40836	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.939000|0.939000|0.939000	0.58152|0.58152|0.58152	0.642000|0.642000|0.642000	0.24735|0.24735|0.24735	1.373000|1.373000|1.373000	0.46208|0.46208|0.46208	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GAA|AAG|AGA		PASS	0.507	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		8	33	8	33	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101753194	101753194	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr13:101753194C>T	ENST00000251127.6	-	27	3184	c.3103G>A	c.(3103-3105)Gga>Aga	p.G1035R		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1035					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.G1035R(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGCTGAACTCCAAAGCTTGCA	0.333																																						uc001vox.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(3103-3105)GGA>AGA		voltage gated channel like 1							67.0	63.0	64.0					13																	101753194		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101753194C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3103G>A	13.37:g.101753194C>T	ENSP00000251127:p.Gly1035Arg						p.G1035R	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			27	3292	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1035			Helical; Name=S5 of repeat III; (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.3103G>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053002	0.93793	.	.	ENSG00000102452	ENST00000251127	D	0.97665	-4.48	5.68	5.68	0.88126	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99190	0.9719	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98863	1.0763	10	0.87932	D	0	.	19.7959	0.96481	0.0:1.0:0.0:0.0	.	1035	Q8IZF0	NALCN_HUMAN	R	1035	ENSP00000251127:G1035R	ENSP00000251127:G1035R	G	-	1	0	NALCN	100551195	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.387000	0.79785	2.689000	0.91719	0.655000	0.94253	GGA		PASS	0.333	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		13	37	13	37	---	---	---	---
ERCC5	2073	broad.mit.edu	37	13	103528079	103528079	+	Silent	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr13:103528079G>T	ENST00000355739.4	+	15	4810	c.3387G>T	c.(3385-3387)tcG>tcT	p.S1129S	ERCC5_ENST00000375954.1_Silent_p.S362S|ERCC5_ENST00000472247.1_3'UTR	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	1129					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)	p.S1129S(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CTTCAGATTCGCAGAACTCAG	0.468			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc001vpw.2			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	Mis|N|F	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E		skin basal cell|skin squamous cell|melanoma			1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(3385-3387)TCG>TCT	Direct_reversal_of_damage|NER	XPG-complementing protein							46.0	45.0	46.0					13																	103528079		2203	4300	6503	SO:0001819	synonymous_variant	2073	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding	g.chr13:103528079G>T	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.3387G>T	13.37:g.103528079G>T							p.S1129S	NM_000123	NP_000114	P28715	ERCC5_HUMAN			15	3830	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		1129					A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Silent	SNP	ENST00000355739.4	37	c.3387G>T	CCDS32004.1																																																																																				PASS	0.468	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			22	33	22	33	---	---	---	---
FAM155A	728215	broad.mit.edu	37	13	108518186	108518186	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr13:108518186C>A	ENST00000375915.2	-	1	897	c.759G>T	c.(757-759)aaG>aaT	p.K253N		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	253						integral component of membrane (GO:0016021)		p.K253N(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CGCCGCCTTCCTTGAGCACCA	0.498																																						uc001vql.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(757-759)AAG>AAT		family with sequence similarity 155, member A							139.0	125.0	130.0					13																	108518186		2203	4300	6503	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518186C>A	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.759G>T	13.37:g.108518186C>A	ENSP00000365080:p.Lys253Asn						p.K253N	NM_001080396	NP_001073865	B1AL88	F155A_HUMAN			1	1275	-			253					B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.759G>T	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	C	2.879	-0.232337	0.05983	.	.	ENSG00000204442	ENST00000375915	T	0.12569	2.67	5.9	3.18	0.36537	.	0.516996	0.17633	N	0.167325	T	0.05823	0.0152	N	0.08118	0	0.26296	N	0.978042	B	0.26258	0.145	B	0.24541	0.054	T	0.37979	-0.9682	10	0.21014	T	0.42	.	5.6469	0.17594	0.0:0.6322:0.1459:0.2219	.	253	B1AL88	F155A_HUMAN	N	253	ENSP00000365080:K253N	ENSP00000365080:K253N	K	-	3	2	FAM155A	107316187	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.007000	0.40883	0.800000	0.34041	0.563000	0.77884	AAG		PASS	0.498	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		7	154	7	154	---	---	---	---
LIG4	3981	broad.mit.edu	37	13	108861558	108861558	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr13:108861558C>A	ENST00000356922.4	-	2	2331	c.2059G>T	c.(2059-2061)Ggt>Tgt	p.G687C	LIG4_ENST00000405925.1_Missense_Mutation_p.G687C|LIG4_ENST00000442234.1_Missense_Mutation_p.G687C	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	687	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.G687C(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ACTATATAACCACCAAATTCT	0.368								Non-homologous end-joining																														uc001vqn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2059-2061)GGT>TGT	NHEJ	DNA ligase IV							73.0	73.0	73.0					13																	108861558		2203	4300	6503	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108861558C>A	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2059G>T	13.37:g.108861558C>A	ENSP00000349393:p.Gly687Cys					LIG4_uc001vqo.2_Missense_Mutation_p.G687C|LIG4_uc010agg.1_Missense_Mutation_p.G620C|LIG4_uc010agf.2_Missense_Mutation_p.G687C|LIG4_uc001vqp.2_Missense_Mutation_p.G687C	p.G687C	NM_002312	NP_002303	P49917	DNLI4_HUMAN			2	2332	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		687			BRCT 1.		Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.2059G>T	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146429	0.57044	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.28454	1.61;1.61;1.61	5.69	5.69	0.88448	BRCT (4);	0.000000	0.85682	D	0.000000	T	0.66287	0.2774	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73711	-0.3897	10	0.87932	D	0	.	18.8676	0.92300	0.0:1.0:0.0:0.0	.	687	P49917	DNLI4_HUMAN	C	687	ENSP00000385955:G687C;ENSP00000402030:G687C;ENSP00000349393:G687C	ENSP00000349393:G687C	G	-	1	0	LIG4	107659559	1.000000	0.71417	0.881000	0.34555	0.147000	0.21601	7.755000	0.85180	2.688000	0.91661	0.539000	0.68188	GGT		PASS	0.368	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		25	34	25	34	---	---	---	---
OR4Q3	441669	broad.mit.edu	37	14	20216032	20216032	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr14:20216032G>C	ENST00000331723.1	+	1	446	c.446G>C	c.(445-447)tGc>tCc	p.C149S		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C149S(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTTCTTGCCTGCTGGTGTGGG	0.498																																						uc010tkt.1																			1	Substitution - Missense(1)		lung(1)	breast(3)	3						c.(445-447)TGC>TCC		olfactory receptor, family 4, subfamily Q,							88.0	91.0	90.0					14																	20216032		2203	4298	6501	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216032G>C	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.446G>C	14.37:g.20216032G>C	ENSP00000330049:p.Cys149Ser						p.C149S	NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	446	+	all_cancers(95;0.00108)		149			Helical; Name=4; (Potential).		Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.446G>C	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	0.009	-1.829809	0.00584	.	.	ENSG00000182652	ENST00000331723	T	0.35421	1.31	4.09	3.14	0.36123	GPCR, rhodopsin-like superfamily (1);	0.182769	0.25925	U	0.027407	T	0.08582	0.0213	N	0.00815	-1.16	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.40232	-0.9574	10	0.02654	T	1	.	5.631	0.17510	0.1107:0.2027:0.6866:0.0	.	149	Q8NH05	OR4Q3_HUMAN	S	149	ENSP00000330049:C149S	ENSP00000330049:C149S	C	+	2	0	OR4Q3	19285872	0.000000	0.05858	0.987000	0.45799	0.767000	0.43475	0.015000	0.13355	2.105000	0.64084	0.406000	0.27484	TGC		PASS	0.498	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			15	108	15	108	---	---	---	---
OR4M1	441670	broad.mit.edu	37	14	20248958	20248958	+	Missense_Mutation	SNP	G	G	C	rs373976062		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr14:20248958G>C	ENST00000315957.4	+	1	558	c.477G>C	c.(475-477)caG>caC	p.Q159H		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q159H(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTATAATACAGGTGGCTCTCA	0.507																																						uc010tku.1																			1	Substitution - Missense(1)		lung(1)		0						c.(475-477)CAG>CAC		olfactory receptor, family 4, subfamily M,							249.0	258.0	255.0					14																	20248958		2203	4300	6503	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248958G>C		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.477G>C	14.37:g.20248958G>C	ENSP00000319654:p.Gln159His						p.Q159H	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	477	+	all_cancers(95;0.00108)		159			Extracellular (Potential).		B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.477G>C	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	14.36	2.513053	0.44660	.	.	ENSG00000176299	ENST00000315957	T	0.00019	9.06	4.43	-0.843	0.10744	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000262	T	0.00109	0.0003	L	0.33710	1.025	0.30043	N	0.812465	B	0.21071	0.051	B	0.30251	0.113	T	0.19910	-1.0291	10	0.62326	D	0.03	-7.1773	5.1162	0.14834	0.4893:0.1542:0.3565:0.0	.	159	Q8NGD0	OR4M1_HUMAN	H	159	ENSP00000319654:Q159H	ENSP00000319654:Q159H	Q	+	3	2	OR4M1	19318798	0.000000	0.05858	0.992000	0.48379	0.973000	0.67179	-0.455000	0.06762	-0.268000	0.09312	-0.360000	0.07572	CAG		PASS	0.507	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			26	329	26	329	---	---	---	---
OR4K15	81127	broad.mit.edu	37	14	20444613	20444613	+	Silent	SNP	G	G	C	rs373977358		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr14:20444613G>C	ENST00000305051.5	+	1	1011	c.936G>C	c.(934-936)acG>acC	p.T312T		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	312						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T312T(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TAATCTACACGCTAAGAAACA	0.398																																						uc010tkx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(934-936)ACG>ACC		olfactory receptor, family 4, subfamily K,							89.0	89.0	89.0					14																	20444613		2202	4300	6502	SO:0001819	synonymous_variant	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20444613G>C		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.936G>C	14.37:g.20444613G>C							p.T312T	NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	936	+	all_cancers(95;0.00108)		312			Helical; Name=7; (Potential).		B9EIL3|Q6IEZ4	Silent	SNP	ENST00000305051.5	37	c.936G>C	CCDS32026.1																																																																																				PASS	0.398	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			25	62	25	62	---	---	---	---
NGDN	25983	broad.mit.edu	37	14	23945346	23945346	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr14:23945346G>T	ENST00000408901.3	+	7	557	c.529G>T	c.(529-531)Gtt>Ttt	p.V177F	NGDN_ENST00000556580.1_5'Flank|NGDN_ENST00000397154.3_Missense_Mutation_p.V177F	NM_001042635.1|NM_015514.1	NP_001036100.1|NP_056329.1	Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	177					regulation of translation (GO:0006417)	cell projection (GO:0042995)|chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.V177F(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		TCCACGCTTGGTTCCAGTACA	0.433																																						uc001wjy.2																			2	Substitution - Missense(2)		lung(2)		0						c.(529-531)GTT>TTT		neuroguidin isoform 1							124.0	124.0	124.0					14																	23945346		2203	4300	6503	SO:0001583	missense	25983				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus		g.chr14:23945346G>T	AK022215	CCDS32051.1, CCDS41926.1	14q11.2	2014-06-13	2006-08-02	2006-08-02	ENSG00000129460	ENSG00000129460			20271	protein-coding gene	gene with protein product		610777	"""chromosome 14 open reading frame 120"""	C14orf120		16705177	Standard	NM_001042635		Approved	DKFZP564O092, LCP5, lpd-2, NGD	uc001wjy.3	Q8NEJ9	OTTHUMG00000171501	ENST00000408901.3:c.529G>T	14.37:g.23945346G>T	ENSP00000386134:p.Val177Phe					NGDN_uc001wjz.2_Missense_Mutation_p.V177F|NGDN_uc001wka.2_5'Flank	p.V177F	NM_001042635	NP_001036100	Q8NEJ9	NGDN_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	7	556	+	all_cancers(95;0.000251)		177					A8K760|Q9Y400	Missense_Mutation	SNP	ENST00000408901.3	37	c.529G>T	CCDS41926.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.1|25.1	4.603836|4.603836	0.87157|0.87157	.|.	.|.	ENSG00000129460|ENSG00000129460	ENST00000556483|ENST00000408901;ENST00000397154	.|T;T	.|0.30981	.|1.51;1.51	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	.|0.054174	.|0.64402	.|D	.|0.000001	T|T	0.51517|0.51517	0.1679|0.1679	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|D;D	.|0.65815	.|0.995;0.991	.|P;P	.|0.61201	.|0.885;0.77	T|T	0.44952|0.44952	-0.9294|-0.9294	5|10	.|0.59425	.|D	.|0.04	-13.8749|-13.8749	19.0276|19.0276	0.92939|0.92939	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|177;177	.|Q8NEJ9-2;Q8NEJ9	.|.;NGDN_HUMAN	V|F	124|177	.|ENSP00000386134:V177F;ENSP00000380340:V177F	.|ENSP00000380340:V177F	G|V	+|+	2|1	0|0	NGDN|NGDN	23015186|23015186	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.839000|0.839000	0.47603|0.47603	6.324000|6.324000	0.72896|0.72896	2.797000|2.797000	0.96272|0.96272	0.563000|0.563000	0.77884|0.77884	GGT|GTT		PASS	0.433	NGDN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413782.3	NM_001042635		15	60	15	60	---	---	---	---
AKAP6	9472	broad.mit.edu	37	14	33291286	33291286	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr14:33291286C>T	ENST00000280979.4	+	13	4437	c.4267C>T	c.(4267-4269)Cca>Tca	p.P1423S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1423					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.P1423S(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CATTAAGCTTCCAAATAGCTC	0.413																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2																			1	Substitution - Missense(1)		lung(1)	breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(4267-4269)CCA>TCA		A-kinase anchor protein 6							54.0	54.0	54.0					14																	33291286		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33291286C>T	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4267C>T	14.37:g.33291286C>T	ENSP00000280979:p.Pro1423Ser						p.P1423S	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	4437	+	Breast(36;0.0388)|Prostate(35;0.15)		1423					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.4267C>T	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	0.378	-0.930290	0.02359	.	.	ENSG00000151320	ENST00000280979	T	0.04275	3.66	5.6	2.77	0.32553	.	0.481200	0.22661	N	0.057185	T	0.02230	0.0069	N	0.16066	0.365	0.80722	D	1	B	0.12630	0.006	B	0.06405	0.002	T	0.39014	-0.9634	10	0.02654	T	1	-0.8826	5.7832	0.18318	0.0:0.5668:0.0:0.4332	.	1423	Q13023	AKAP6_HUMAN	S	1423	ENSP00000280979:P1423S	ENSP00000280979:P1423S	P	+	1	0	AKAP6	32361037	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	1.061000	0.30542	0.706000	0.31912	0.563000	0.77884	CCA		PASS	0.413	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		15	51	15	51	---	---	---	---
RALGAPA1	253959	broad.mit.edu	37	14	36219896	36219896	+	Splice_Site	SNP	T	T	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr14:36219896T>A	ENST00000389698.3	-	9	1193	c.803A>T	c.(802-804)gAc>gTc	p.D268V	RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000307138.6_Splice_Site_p.D268V|RALGAPA1_ENST00000258840.6_Splice_Site_p.D268V|RALGAPA1_ENST00000382366.3_Splice_Site_p.D268V	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	268					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.D268V(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTGCGGGATGTCTGTGCAAAA	0.323																																						uc001wti.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(1)	4						c.(802-804)GAC>GTC		Ral GTPase activating protein, alpha subunit 1							77.0	69.0	72.0					14																	36219896		2203	4300	6503	SO:0001630	splice_region_variant	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36219896T>A	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.803-1A>T	14.37:g.36219896T>A						RALGAPA1_uc001wtj.2_Missense_Mutation_p.D268V|RALGAPA1_uc010tpv.1_Missense_Mutation_p.D268V|RALGAPA1_uc010tpw.1_Missense_Mutation_p.D268V|RALGAPA1_uc001wtk.1_Missense_Mutation_p.D119V	p.D268V	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN			9	1194	-			268					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.803A>T	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	T	16.88	3.243698	0.58995	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22	4.89	4.89	0.63831	.	0.053469	0.64402	D	0.000001	T	0.81498	0.4835	L	0.36672	1.1	0.80722	D	1	D;P;B;D;D	0.63880	0.993;0.856;0.099;0.987;0.985	P;P;B;D;P	0.63283	0.809;0.528;0.138;0.913;0.787	D	0.83958	0.0320	10	0.87932	D	0	.	14.7948	0.69870	0.0:0.0:0.0:1.0	.	268;268;268;268;268	Q6GYQ0-6;B9EK38;Q6GYQ0-3;Q6GYQ0-2;Q6GYQ0	.;.;.;.;RGPA1_HUMAN	V	268	ENSP00000374348:D268V;ENSP00000302647:D268V;ENSP00000258840:D268V;ENSP00000371803:D268V;ENSP00000451877:D268V	ENSP00000258840:D268V	D	-	2	0	RALGAPA1	35289647	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.776000	0.85560	1.967000	0.57214	0.460000	0.39030	GAC		PASS	0.323	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022	Missense_Mutation	11	45	11	45	---	---	---	---
LRFN5	145581	broad.mit.edu	37	14	42356584	42356584	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr14:42356584G>C	ENST00000298119.4	+	3	1945	c.756G>C	c.(754-756)agG>agC	p.R252S	LRFN5_ENST00000554171.1_Missense_Mutation_p.R252S|LRFN5_ENST00000554120.1_Missense_Mutation_p.R252S	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	252	LRRCT.					integral component of membrane (GO:0016021)		p.R252S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGTGGTTGAGGCGTCTGTCCA	0.443										HNSCC(30;0.082)																												uc001wvm.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(754-756)AGG>AGC		leucine rich repeat and fibronectin type III							172.0	170.0	171.0					14																	42356584		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356584G>C	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.756G>C	14.37:g.42356584G>C	ENSP00000298119:p.Arg252Ser	HNSCC(30;0.082)				LRFN5_uc010ana.2_Missense_Mutation_p.R252S	p.R252S	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	1954	+			252			Extracellular (Potential).|LRRCT.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.756G>C	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547154	0.45383	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.51071	0.72;0.72;0.72	5.69	0.0774	0.14407	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.64402	D	0.000006	T	0.61073	0.2318	M	0.69823	2.125	0.51012	D	0.999905	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.56968	-0.7891	10	0.31617	T	0.26	.	10.4937	0.44764	0.3683:0.0:0.6317:0.0	.	252;252	G3V364;Q96NI6	.;LRFN5_HUMAN	S	252	ENSP00000298119:R252S;ENSP00000451897:R252S;ENSP00000451067:R252S	ENSP00000298119:R252S	R	+	3	2	LRFN5	41426334	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.470000	0.35354	0.040000	0.15660	0.557000	0.71058	AGG		PASS	0.443	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		26	101	26	101	---	---	---	---
FSCB	84075	broad.mit.edu	37	14	44973864	44973864	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr14:44973864A>T	ENST00000340446.4	-	1	2618	c.2327T>A	c.(2326-2328)gTt>gAt	p.V776D	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	776						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.V776D(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTCCAAAACAACCGATCCTAA	0.413																																						uc001wvn.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(2326-2328)GTT>GAT		fibrous sheath CABYR binding protein							82.0	89.0	87.0					14																	44973864		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44973864A>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2327T>A	14.37:g.44973864A>T	ENSP00000344579:p.Val776Asp						p.V776D	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	2636	-			776					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.2327T>A	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	A	14.44	2.537511	0.45176	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.15256	2.44	4.28	-5.69	0.02428	.	.	.	.	.	T	0.07548	0.0190	L	0.34521	1.04	0.09310	N	1	B	0.23806	0.091	B	0.19666	0.026	T	0.42932	-0.9422	9	0.11485	T	0.65	0.2277	0.4051	0.00432	0.2168:0.263:0.2614:0.2588	.	776	Q5H9T9	FSCB_HUMAN	D	776;669	ENSP00000344579:V776D	ENSP00000344579:V776D	V	-	2	0	FSCB	44043614	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.808000	0.04515	-1.006000	0.03412	0.397000	0.26171	GTT		PASS	0.413	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		25	82	25	82	---	---	---	---
ERO1L	30001	broad.mit.edu	37	14	53120022	53120022	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr14:53120022C>G	ENST00000395686.3	-	12	1043	c.820G>C	c.(820-822)Gaa>Caa	p.E274Q		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	274					4-hydroxyproline metabolic process (GO:0019471)|brown fat cell differentiation (GO:0050873)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum unfolded protein response (GO:0030968)|extracellular matrix organization (GO:0030198)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to temperature stimulus (GO:0009266)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)	p.E274Q(1)	ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					CATTTCTTTTCTAACCAGGTC	0.303																																						uc001wzv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(820-822)GAA>CAA		ERO1-like precursor							90.0	100.0	96.0					14																	53120022		2202	4300	6502	SO:0001583	missense	30001				chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor	g.chr14:53120022C>G	AF081886	CCDS9709.1	14q22.1	2010-10-06	2001-11-28		ENSG00000197930	ENSG00000197930			13280	protein-coding gene	gene with protein product		615435	"""ERO1 (S. cerevisiae)-like"""			10671517	Standard	NM_014584		Approved	ERO1A, ERO1-alpha	uc001wzv.3	Q96HE7	OTTHUMG00000140301	ENST00000395686.3:c.820G>C	14.37:g.53120022C>G	ENSP00000379042:p.Glu274Gln					ERO1L_uc001wzw.2_RNA|ERO1L_uc010aof.2_RNA	p.E274Q	NM_014584	NP_055399	Q96HE7	ERO1A_HUMAN			12	1046	-	Breast(41;0.226)		274					A8K9X4|A8MYW1|Q7LD45|Q9P1Q9|Q9UKV6	Missense_Mutation	SNP	ENST00000395686.3	37	c.820G>C	CCDS9709.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534876	0.27475	.	.	ENSG00000197930	ENST00000395686	T	0.40476	1.03	5.67	5.67	0.87782	.	0.252557	0.45126	D	0.000387	T	0.29652	0.0740	N	0.12637	0.245	0.51767	D	0.999939	B	0.14012	0.009	B	0.19666	0.026	T	0.08046	-1.0741	10	0.19590	T	0.45	-9.5645	19.7712	0.96366	0.0:1.0:0.0:0.0	.	274	Q96HE7	ERO1A_HUMAN	Q	274	ENSP00000379042:E274Q	ENSP00000379042:E274Q	E	-	1	0	ERO1L	52189772	0.998000	0.40836	1.000000	0.80357	0.841000	0.47740	3.524000	0.53495	2.677000	0.91161	0.585000	0.79938	GAA		PASS	0.303	ERO1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276892.1	NM_014584		31	81	31	81	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64692225	64692225	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr14:64692225A>G	ENST00000344113.4	+	115	20851	c.20639A>G	c.(20638-20640)aAt>aGt	p.N6880S	SYNE2_ENST00000358025.3_Missense_Mutation_p.N6902S|SYNE2_ENST00000555022.1_Missense_Mutation_p.N758S|SYNE2_ENST00000394768.2_Missense_Mutation_p.N3265S|SYNE2_ENST00000554805.1_Missense_Mutation_p.N663S|SYNE2_ENST00000554584.1_Silent_p.Q6800Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000441438.2_Missense_Mutation_p.N424S|SYNE2_ENST00000458046.2_Missense_Mutation_p.N551S|SYNE2_ENST00000357395.3_Missense_Mutation_p.N3265S|SYNE2_ENST00000555002.1_Missense_Mutation_p.N3536S	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6880	KASH. {ECO:0000255|PROSITE- ProRule:PRU00385}.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.N6902S(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGGTACACCAATGGGCCACCC	0.607																																						uc001xgm.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(20638-20640)AAT>AGT		spectrin repeat containing, nuclear envelope 2							34.0	31.0	32.0					14																	64692225		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64692225A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.20639A>G	14.37:g.64692225A>G	ENSP00000341781:p.Asn6880Ser					SYNE2_uc001xgl.2_Missense_Mutation_p.N6902S|SYNE2_uc010apy.2_Missense_Mutation_p.N3265S|SYNE2_uc001xgn.2_Missense_Mutation_p.N1841S|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.N850S|SYNE2_uc001xgq.2_Missense_Mutation_p.N1259S|SYNE2_uc001xgr.2_Missense_Mutation_p.N663S|SYNE2_uc010tsi.1_Missense_Mutation_p.N537S|SYNE2_uc001xgs.2_Missense_Mutation_p.N551S|SYNE2_uc001xgt.2_Missense_Mutation_p.N424S	p.N6880S	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	115	20869	+			6880			Perinuclear space (Potential).|KASH.		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.20639A>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	29.6	5.023490	0.93462	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71	5.99	5.99	0.97316	Klarsicht/ANC-1/syne-1 homology (2);	0.000000	0.52532	D	0.000080	T	0.57213	0.2038	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;1.0;1.0;0.999	T	0.63479	-0.6628	10	0.72032	D	0.01	.	16.4943	0.84223	1.0:0.0:0.0:0.0	.	537;3265;424;551;1282;6880;6902	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;Q8WXH0;Q8WXH0-2	.;.;.;.;.;SYNE2_HUMAN;.	S	6902;3265;6880;3536;3265;758;663;551;424	ENSP00000350719:N6902S;ENSP00000349969:N3265S;ENSP00000341781:N6880S;ENSP00000450831:N3536S;ENSP00000378249:N3265S;ENSP00000451009:N758S;ENSP00000450605:N663S;ENSP00000391937:N551S;ENSP00000396794:N424S	ENSP00000341781:N6880S	N	+	2	0	SYNE2	63761978	1.000000	0.71417	0.988000	0.46212	0.904000	0.53231	9.339000	0.96797	2.291000	0.77112	0.533000	0.62120	AAT		PASS	0.607	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		7	31	7	31	---	---	---	---
KIAA0247	9766	broad.mit.edu	37	14	70171368	70171368	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr14:70171368G>A	ENST00000342745.4	+	4	680	c.367G>A	c.(367-369)Gct>Act	p.A123T		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	123						integral component of membrane (GO:0016021)		p.A123T(1)		endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		GTCTATAGTGGCTTCTACTGC	0.493																																						uc001xlk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(367-369)GCT>ACT		hypothetical protein LOC9766 precursor							80.0	68.0	72.0					14																	70171368		2203	4300	6503	SO:0001583	missense	9766					integral to membrane		g.chr14:70171368G>A	D87434	CCDS9796.1	14q24.1	2012-11-29			ENSG00000100647	ENSG00000100647			19956	protein-coding gene	gene with protein product						9039502	Standard	NM_014734		Approved		uc001xlk.3	Q92537	OTTHUMG00000171234	ENST00000342745.4:c.367G>A	14.37:g.70171368G>A	ENSP00000344424:p.Ala123Thr					KIAA0247_uc010aqz.2_Missense_Mutation_p.A98T	p.A123T	NM_014734	NP_055549	Q92537	K0247_HUMAN		all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)	4	683	+			123			Helical; (Potential).			Missense_Mutation	SNP	ENST00000342745.4	37	c.367G>A	CCDS9796.1	.	.	.	.	.	.	.	.	.	.	G	36	5.636299	0.96693	.	.	ENSG00000100647	ENST00000342745	T	0.71341	-0.56	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.84714	0.5533	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86179	0.1605	10	0.87932	D	0	-8.2061	19.2191	0.93789	0.0:0.0:1.0:0.0	.	123	Q92537	K0247_HUMAN	T	123	ENSP00000344424:A123T	ENSP00000344424:A123T	A	+	1	0	KIAA0247	69241121	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.268000	0.72552	2.541000	0.85698	0.561000	0.74099	GCT		PASS	0.493	KIAA0247-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412453.1	NM_014734		8	20	8	20	---	---	---	---
DPF3	8110	broad.mit.edu	37	14	73238469	73238469	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr14:73238469G>C	ENST00000556509.1	-	2	164	c.165C>G	c.(163-165)atC>atG	p.I55M	DPF3_ENST00000541685.1_Missense_Mutation_p.I55M|DPF3_ENST00000546183.1_Missense_Mutation_p.I65M	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	55					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)	p.I55M(2)|p.I54M(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TCTCCATCCAGATGTAGCAGT	0.627																																						uc001xnc.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(163-165)ATC>ATG		D4, zinc and double PHD fingers, family 3							86.0	94.0	91.0					14																	73238469		2194	4299	6493	SO:0001583	missense	8110				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding	g.chr14:73238469G>C	U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.165C>G	14.37:g.73238469G>C	ENSP00000450518:p.Ile55Met					DPF3_uc001xnf.2_RNA|DPF3_uc010ari.1_Missense_Mutation_p.I55M|DPF3_uc010ttq.1_Missense_Mutation_p.I65M	p.I55M	NM_012074	NP_036206	Q92784	DPF3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	2	178	-			55					A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Missense_Mutation	SNP	ENST00000556509.1	37	c.165C>G		.	.	.	.	.	.	.	.	.	.	g	19.36	3.813336	0.70912	.	.	ENSG00000205683	ENST00000540281;ENST00000556509;ENST00000398816;ENST00000541685;ENST00000546183	D;T;T	0.91407	-2.84;-0.33;-0.32	5.54	3.68	0.42216	.	.	.	.	.	D	0.93035	0.7783	M	0.67953	2.075	0.53005	D	0.999966	D;D;D	0.89917	0.999;1.0;0.991	D;D;D	0.91635	0.999;0.999;0.98	D	0.91407	0.5148	9	0.87932	D	0	.	5.7673	0.18233	0.1426:0.0:0.5824:0.275	.	65;55;55	F5H575;Q92784-2;Q92784	.;.;DPF3_HUMAN	M	55;55;54;55;65	ENSP00000450518:I55M;ENSP00000441640:I55M;ENSP00000444662:I65M	ENSP00000381791:I110M	I	-	3	3	DPF3	72308222	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.779000	0.47734	0.675000	0.31264	-0.130000	0.14895	ATC		PASS	0.627	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2			13	51	13	51	---	---	---	---
NEK9	91754	broad.mit.edu	37	14	75590749	75590749	+	Splice_Site	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr14:75590749C>A	ENST00000238616.5	-	2	555	c.397G>T	c.(397-399)Gga>Tga	p.G133*		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	133	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.G133*(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		TCTATCTTACCATTACAATAT	0.383																																						uc001xrl.2																			1	Substitution - Nonsense(1)		lung(1)	lung(2)|stomach(2)|ovary(1)	5						c.(397-399)GGA>TGA		NIMA-related kinase 9							150.0	139.0	142.0					14																	75590749		2203	4300	6503	SO:0001630	splice_region_variant	91754				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr14:75590749C>A	AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"""NIMA (never in mitosis gene a)- related kinase 9"""			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.397+1G>T	14.37:g.75590749C>A							p.G133*	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00718)	2	551	-			133			Protein kinase.		Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Nonsense_Mutation	SNP	ENST00000238616.5	37	c.397G>T	CCDS9839.1	.	.	.	.	.	.	.	.	.	.	C	39	7.546330	0.98352	.	.	ENSG00000119638	ENST00000238616;ENST00000540227;ENST00000557673;ENST00000553823	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	133;115;15;15	.	.	G	-	1	0	NEK9	74660502	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GGA		PASS	0.383	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	NM_033116	Nonsense_Mutation	5	80	5	80	---	---	---	---
SPTLC2	9517	broad.mit.edu	37	14	77987879	77987879	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr14:77987879C>T	ENST00000216484.2	-	10	1542	c.1349G>A	c.(1348-1350)aGg>aAg	p.R450K		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	450				KECVQQLAENTRYFRRRLKEMGFIIYGNEDSPVV -> NGI TIHEVVQTRNTYHRFSPLSPVFSHQCLWIML (in Ref. 5). {ECO:0000305}.	ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)	p.R450K(1)		kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	CAGGCGTCTCCTGAAATACCT	0.413																																						uc001xub.2																			1	Substitution - Missense(1)	p.R450R(1)	lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1348-1350)AGG>AAG		serine palmitoyltransferase, long chain base	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						124.0	107.0	113.0					14																	77987879		2203	4300	6503	SO:0001583	missense	9517					integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr14:77987879C>T	AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.1349G>A	14.37:g.77987879C>T	ENSP00000216484:p.Arg450Lys						p.R450K	NM_004863	NP_004854	O15270	SPTC2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	10	1537	-			450	KECVQQLAENTRYFRRRLKEMGFIIYGNEDSPVV -> NGI TIHEVVQTRNTYHRFSPLSPVFSHQCLWIML (in Ref. 5).				Q16685	Missense_Mutation	SNP	ENST00000216484.2	37	c.1349G>A	CCDS9865.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.979557	0.92982	.	.	ENSG00000100596	ENST00000216484	D	0.90955	-2.76	5.73	5.73	0.89815	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.95329	0.8484	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94584	0.7782	10	0.49607	T	0.09	-20.4218	19.9019	0.96988	0.0:1.0:0.0:0.0	.	450	O15270	SPTC2_HUMAN	K	450	ENSP00000216484:R450K	ENSP00000216484:R450K	R	-	2	0	SPTLC2	77057632	1.000000	0.71417	1.000000	0.80357	0.516000	0.34256	7.818000	0.86416	2.712000	0.92718	0.557000	0.71058	AGG		PASS	0.413	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414030.1	NM_004863		8	48	8	48	---	---	---	---
SPATA7	55812	broad.mit.edu	37	14	88857754	88857754	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr14:88857754G>T	ENST00000393545.4	+	2	338	c.49G>T	c.(49-51)Ggt>Tgt	p.G17C	SPATA7_ENST00000045347.7_Missense_Mutation_p.G17C|SPATA7_ENST00000554102.1_3'UTR|SPATA7_ENST00000356583.5_Missense_Mutation_p.G17C|SPATA7_ENST00000556553.1_Missense_Mutation_p.G17C	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	17					response to stimulus (GO:0050896)|visual perception (GO:0007601)			p.G17C(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						TCCCAGATATGGTCCACCGTG	0.358																																						uc001xwq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(49-51)GGT>TGT		spermatogenesis-associated protein 7 isoform a							85.0	78.0	80.0					14																	88857754		2203	4300	6503	SO:0001583	missense	55812				response to stimulus|visual perception			g.chr14:88857754G>T	AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"""Leber congenital amaurosis 3"""	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.49G>T	14.37:g.88857754G>T	ENSP00000377176:p.Gly17Cys					SPATA7_uc001xwr.2_Missense_Mutation_p.G17C	p.G17C	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN			2	200	+			17					Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Missense_Mutation	SNP	ENST00000393545.4	37	c.49G>T	CCDS9883.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305766	0.40795	.	.	ENSG00000042317	ENST00000556553;ENST00000393545;ENST00000356583;ENST00000553885;ENST00000045347	T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13	4.97	1.54	0.23209	.	0.978321	0.08322	N	0.963622	T	0.25938	0.0632	L	0.43152	1.355	0.26037	N	0.98165	B;D	0.63046	0.02;0.992	B;P	0.53146	0.025;0.719	T	0.15435	-1.0437	10	0.62326	D	0.03	0.355	4.1141	0.10072	0.2383:0.0:0.59:0.1717	.	17;17	Q9P0W8-2;Q9P0W8	.;SPAT7_HUMAN	C	17	ENSP00000451128:G17C;ENSP00000377176:G17C;ENSP00000348991:G17C;ENSP00000450606:G17C;ENSP00000045347:G17C	ENSP00000045347:G17C	G	+	1	0	SPATA7	87927507	0.996000	0.38824	0.233000	0.24025	0.975000	0.68041	1.583000	0.36579	0.062000	0.16340	0.585000	0.79938	GGT		PASS	0.358	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410172.1			4	14	4	14	---	---	---	---
ASB2	51676	broad.mit.edu	37	14	94420769	94420769	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr14:94420769C>A	ENST00000315988.4	-	2	716	c.228G>T	c.(226-228)atG>atT	p.M76I	ASB2_ENST00000555019.1_Missense_Mutation_p.M124I|ASB2_ENST00000556337.1_Intron	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	76					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.M76I(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CTTCCTTGATCATGGTCTTCA	0.592																																						uc001ycc.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(226-228)ATG>ATT		ankyrin repeat and SOCS box-containing protein							107.0	84.0	92.0					14																	94420769		2203	4300	6503	SO:0001583	missense	51676				intracellular signal transduction			g.chr14:94420769C>A	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.228G>T	14.37:g.94420769C>A	ENSP00000320675:p.Met76Ile					ASB2_uc001ycd.2_Missense_Mutation_p.M124I|ASB2_uc001yce.1_Missense_Mutation_p.M22I	p.M76I	NM_016150	NP_057234	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	2	717	-		all_cancers(154;0.13)	76			ANK 1.		B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	ENST00000315988.4	37	c.228G>T	CCDS9915.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820313	0.71028	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507;ENST00000556062;ENST00000555287;ENST00000557613	T;T;T;T;T;T	0.70282	2.52;2.52;0.11;-0.47;0.11;0.11	5.3	5.3	0.74995	Ankyrin repeat-containing domain (4);	0.047420	0.85682	D	0.000000	T	0.71204	0.3312	N	0.05158	-0.105	0.44539	D	0.99749	P;D;P	0.59357	0.77;0.985;0.77	P;D;P	0.72338	0.525;0.977;0.525	T	0.79127	-0.1931	10	0.66056	D	0.02	-0.5617	18.9542	0.92653	0.0:1.0:0.0:0.0	.	92;124;76	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	I	124;92;76;22;22;22;42;89	ENSP00000451575:M124I;ENSP00000320675:M76I;ENSP00000450940:M22I;ENSP00000451694:M22I;ENSP00000451654:M42I;ENSP00000451355:M89I	ENSP00000320675:M76I	M	-	3	0	ASB2	93490522	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	2.540000	0.45727	2.490000	0.84030	0.655000	0.94253	ATG		PASS	0.592	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			6	28	6	28	---	---	---	---
TNFAIP2	7127	broad.mit.edu	37	14	103598002	103598002	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr14:103598002T>G	ENST00000560869.1	+	8	1964	c.1325T>G	c.(1324-1326)gTa>gGa	p.V442G	TNFAIP2_ENST00000451723.2_Missense_Mutation_p.V111G|TNFAIP2_ENST00000538222.1_5'Flank|TNFAIP2_ENST00000333007.1_Missense_Mutation_p.V442G			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	442					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|exocytosis (GO:0006887)	exocyst (GO:0000145)|extracellular space (GO:0005615)		p.V442G(1)		NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			AATTGGCAGGTACCCCAGGAC	0.622																																						uc001ymm.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1324-1326)GTA>GGA		tumor necrosis factor, alpha-induced protein 2							28.0	25.0	26.0					14																	103598002		2202	4300	6502	SO:0001583	missense	7127				angiogenesis|cell differentiation	extracellular space		g.chr14:103598002T>G		CCDS9979.1	14q32	2011-01-31				ENSG00000185215			11895	protein-coding gene	gene with protein product	"""exocyst complex component 3-like 3"""	603300				1374453	Standard	NM_006291		Approved	B94, EXOC3L3	uc001ymm.1	Q03169		ENST00000560869.1:c.1325T>G	14.37:g.103598002T>G	ENSP00000452634:p.Val442Gly					TNFAIP2_uc010awo.1_Missense_Mutation_p.V154G|TNFAIP2_uc010txz.1_Missense_Mutation_p.V111G|TNFAIP2_uc010tya.1_5'Flank	p.V442G	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	Epithelial(46;0.191)		7	1456	+		Melanoma(154;0.155)	442					Q86VI0	Missense_Mutation	SNP	ENST00000560869.1	37	c.1325T>G	CCDS9979.1	.	.	.	.	.	.	.	.	.	.	T	6.001	0.368662	0.11352	.	.	ENSG00000185215	ENST00000333007;ENST00000451723	T;T	0.06218	3.33;3.33	2.79	-1.22	0.09494	.	1.033560	0.07654	N	0.932468	T	0.04227	0.0117	N	0.22421	0.69	0.09310	N	1	B;B	0.30146	0.166;0.27	B;B	0.28916	0.062;0.096	T	0.47484	-0.9114	10	0.23302	T	0.38	0.58	6.0392	0.19724	0.0:0.4227:0.0:0.5773	.	219;442	A1A584;Q03169	.;TNAP2_HUMAN	G	442;111	ENSP00000332326:V442G;ENSP00000393256:V111G	ENSP00000332326:V442G	V	+	2	0	TNFAIP2	102667755	0.000000	0.05858	0.009000	0.14445	0.471000	0.32888	-1.362000	0.02595	-0.261000	0.09405	0.254000	0.18369	GTA		PASS	0.622	TNFAIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415674.1	NM_006291		4	4	4	4	---	---	---	---
OR4M2	390538	broad.mit.edu	37	15	22369360	22369360	+	Missense_Mutation	SNP	G	G	T	rs138137222	byFrequency	TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr15:22369360G>T	ENST00000332663.2	+	1	883	c.785G>T	c.(784-786)cGc>cTc	p.R262L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R262L(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATTTATGCTCGCCCATTTGAC	0.418																																						uc010tzu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(784-786)CGC>CTC		olfactory receptor, family 4, subfamily M,							306.0	228.0	254.0					15																	22369360		2203	4300	6503	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369360G>T	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.785G>T	15.37:g.22369360G>T	ENSP00000329467:p.Arg262Leu					LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	p.R262L	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	785	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	262			Extracellular (Potential).		B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.785G>T	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	10.49	1.364097	0.24684	.	.	ENSG00000182974	ENST00000332663	T	0.36699	1.24	2.28	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000118	T	0.43809	0.1264	M	0.86740	2.835	0.09310	N	1	B	0.15930	0.015	B	0.28385	0.089	T	0.44544	-0.9321	10	0.41790	T	0.15	-5.3801	10.3191	0.43756	0.0:0.0:1.0:0.0	.	262	Q8NGB6	OR4M2_HUMAN	L	262	ENSP00000329467:R262L	ENSP00000329467:R262L	R	+	2	0	OR4M2	19870724	0.036000	0.19791	0.998000	0.56505	0.885000	0.51271	1.895000	0.39778	1.297000	0.44761	0.448000	0.29417	CGC		PASS	0.418	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			22	89	22	89	---	---	---	---
OR4N4	283694	broad.mit.edu	37	15	22382912	22382912	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr15:22382912C>A	ENST00000328795.4	+	1	531	c.440C>A	c.(439-441)gCt>gAt	p.A147D	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A147D(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATGATGTTGGCTCTGTGGCTT	0.527																																						uc001yuc.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(439-441)GCT>GAT		olfactory receptor, family 4, subfamily N,							141.0	123.0	129.0					15																	22382912		2189	4262	6451	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382912C>A	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.440C>A	15.37:g.22382912C>A	ENSP00000332500:p.Ala147Asp					LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Missense_Mutation_p.A147D	p.A147D	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	7	1421	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	147			Helical; Name=4; (Potential).		Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.440C>A	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	9.361	1.068122	0.20067	.	.	ENSG00000183706	ENST00000328795	T	0.40476	1.03	3.37	0.203	0.15195	GPCR, rhodopsin-like superfamily (1);	0.978321	0.08345	N	0.960256	T	0.67373	0.2886	H	0.95539	3.685	0.09310	N	1	P	0.50528	0.936	P	0.58266	0.836	T	0.53767	-0.8392	10	0.56958	D	0.05	-1.223	6.6776	0.23103	0.0:0.5516:0.3429:0.1055	.	147	Q8N0Y3	OR4N4_HUMAN	D	147	ENSP00000332500:A147D	ENSP00000332500:A147D	A	+	2	0	OR4N4	19884276	0.000000	0.05858	0.074000	0.20217	0.128000	0.20619	-0.513000	0.06305	-0.056000	0.13221	-0.714000	0.03626	GCT		PASS	0.527	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			16	75	16	75	---	---	---	---
NPAP1	23742	broad.mit.edu	37	15	24924184	24924184	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr15:24924184C>G	ENST00000329468.2	+	1	3644	c.3170C>G	c.(3169-3171)gCa>gGa	p.A1057G		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	1057					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.A1057G(1)									TTTGGTCAGGCAGCCTGGGAC	0.547																																						uc001ywo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(3169-3171)GCA>GGA		hypothetical protein LOC23742							69.0	69.0	69.0					15																	24924184		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24924184C>G	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.3170C>G	15.37:g.24924184C>G	ENSP00000333735:p.Ala1057Gly						p.A1057G	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	3644	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	1057						Missense_Mutation	SNP	ENST00000329468.2	37	c.3170C>G	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	0.081	-1.183882	0.01620	.	.	ENSG00000185823	ENST00000329468	T	0.06218	3.33	1.59	-3.17	0.05202	.	3.854400	0.01284	N	0.009800	T	0.03305	0.0096	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37776	-0.9691	10	0.22706	T	0.39	.	4.252	0.10700	0.0:0.491:0.2211:0.2879	.	1057	Q9NZP6	CO002_HUMAN	G	1057	ENSP00000333735:A1057G	ENSP00000333735:A1057G	A	+	2	0	C15orf2	22475277	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.984000	0.03755	-1.377000	0.02123	-2.507000	0.00189	GCA		PASS	0.547	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		9	25	9	25	---	---	---	---
PPIP5K1	9677	broad.mit.edu	37	15	43827208	43827208	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr15:43827208C>A	ENST00000396923.3	-	30	4087	c.3966G>T	c.(3964-3966)gaG>gaT	p.E1322D	PPIP5K1_ENST00000360301.4_Missense_Mutation_p.E1297D|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.E1295D|PPIP5K1_ENST00000420765.1_Missense_Mutation_p.E1322D|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.E1298D|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.E1297D|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.E1295D|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.E1318D			Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1322					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)	p.E1322D(1)		large_intestine(1)	1						GGCAAACTTCCTCAGAGACTT	0.557																																						uc001zrw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3964-3966)GAG>GAT		histidine acid phosphatase domain containing 2A							113.0	110.0	111.0					15																	43827208		2201	4298	6499	SO:0001583	missense	9677				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr15:43827208C>A	AF502586	CCDS32215.1, CCDS45252.1, CCDS53937.1	15q15.3	2010-01-27	2010-01-26	2010-01-26	ENSG00000168781	ENSG00000168781	2.7.4.24		29023	protein-coding gene	gene with protein product		610979	"""histidine acid phosphatase domain containing 2A"""	HISPPD2A		17412958, 17690096, 18981179	Standard	NM_001190214		Approved	KIAA0377, IPS1, VIP1	uc001zrw.3	Q6PFW1	OTTHUMG00000059758	ENST00000396923.3:c.3966G>T	15.37:g.43827208C>A	ENSP00000380129:p.Glu1322Asp					PPIP5K1_uc001zrx.1_Missense_Mutation_p.E1295D|PPIP5K1_uc001zru.2_Missense_Mutation_p.E1297D|PPIP5K1_uc001zry.3_Missense_Mutation_p.E1297D|PPIP5K1_uc001zrv.2_Missense_Mutation_p.E1083D	p.E1322D	NM_001130858	NP_001124330	Q6PFW1	VIP1_HUMAN			31	4149	-			1322					O15082|Q5HYF8|Q7Z3A7|Q86TE7|Q86UV3|Q86UV4|Q86XW8|Q8IZN0	Missense_Mutation	SNP	ENST00000396923.3	37	c.3966G>T	CCDS45252.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.810613	0.32053	.	.	ENSG00000168781	ENST00000381885;ENST00000360301;ENST00000360135;ENST00000334933;ENST00000396923;ENST00000304953;ENST00000381878;ENST00000420765;ENST00000381879;ENST00000348806;ENST00000335092	T;T;T;T;T;T;T;T	0.25414	1.83;1.8;2.26;1.8;1.83;1.83;1.82;2.26	5.79	2.91	0.33838	.	0.322242	0.22419	N	0.060305	T	0.22627	0.0546	L	0.48642	1.525	0.19300	N	0.999978	B;B;B;B	0.29627	0.167;0.084;0.136;0.252	B;B;B;B	0.29785	0.107;0.022;0.049;0.066	T	0.18398	-1.0338	10	0.66056	D	0.02	-0.0134	9.6849	0.40091	0.0:0.7684:0.0:0.2316	.	1295;1322;1319;1297	Q6PFW1-7;Q6PFW1;Q6PFW1-2;Q6PFW1-3	.;VIP1_HUMAN;.;.	D	1318;1297;1295;1297;1322;1322;1297;1322;1298;1295;1084	ENSP00000371309:E1318D;ENSP00000353446:E1297D;ENSP00000353253:E1295D;ENSP00000334779:E1297D;ENSP00000380129:E1322D;ENSP00000400887:E1322D;ENSP00000371303:E1298D;ENSP00000308773:E1295D	ENSP00000304750:E1322D	E	-	3	2	PPIP5K1	41614500	0.712000	0.27916	0.925000	0.36789	0.672000	0.39443	0.172000	0.16704	0.817000	0.34445	0.563000	0.77884	GAG		PASS	0.557	PPIP5K1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132907.1	NM_014659		23	44	23	44	---	---	---	---
STRC	161497	broad.mit.edu	37	15	43903132	43903132	+	Silent	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr15:43903132C>T	ENST00000450892.2	-	14	3434	c.3357G>A	c.(3355-3357)gtG>gtA	p.V1119V	snoU13_ENST00000459277.1_RNA|STRC_ENST00000541030.1_Intron	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1119					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)		p.V1119V(1)		skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CAGGGATACACACAGCTGGAC	0.502																																						uc001zsf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(3355-3357)GTG>GTA		stereocilin precursor							233.0	153.0	180.0					15																	43903132		2199	4298	6497	SO:0001819	synonymous_variant	161497				sensory perception of sound	cell surface		g.chr15:43903132C>T	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.3357G>A	15.37:g.43903132C>T						STRC_uc010bdl.2_Intron|STRC_uc001zse.2_Translation_Start_Site	p.V1119V	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	14	3435	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	1119						Silent	SNP	ENST00000450892.2	37	c.3357G>A	CCDS10098.1																																																																																				PASS	0.502	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		16	69	16	69	---	---	---	---
DUOX1	53905	broad.mit.edu	37	15	45443357	45443357	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr15:45443357C>A	ENST00000321429.4	+	24	3332	c.2925C>A	c.(2923-2925)agC>agA	p.S975R	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.S975R|DUOX1_ENST00000561166.1_Missense_Mutation_p.S621R	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	975	Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.S975R(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GTTCCCGCAGCGACATTGAGA	0.547																																						uc001zus.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|breast(1)	8						c.(2923-2925)AGC>AGA		dual oxidase 1 precursor							148.0	134.0	139.0					15																	45443357		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45443357C>A	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.2925C>A	15.37:g.45443357C>A	ENSP00000317997:p.Ser975Arg					DUOX1_uc001zut.1_Missense_Mutation_p.S975R|DUOX1_uc010bee.1_Missense_Mutation_p.S355R|DUOX1_uc001zuu.2_Missense_Mutation_p.S117R	p.S975R	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	24	3271	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	975			Cytoplasmic (Potential).|Interaction with TXNDC11 (By similarity).		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.2925C>A	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	5.828	0.337050	0.11013	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.85629	-2.01;-2.01	5.04	-5.66	0.02451	.	1.923420	0.02026	N	0.048169	T	0.61261	0.2333	N	0.08118	0	0.09310	N	1	P;B	0.38020	0.615;0.001	B;B	0.32724	0.151;0.002	T	0.61232	-0.7104	10	0.14252	T	0.57	-2.1096	1.2978	0.02073	0.2505:0.1673:0.1238:0.4583	.	108;975	Q9NT13;Q9NRD9	.;DUOX1_HUMAN	R	975	ENSP00000317997:S975R;ENSP00000373689:S975R	ENSP00000317997:S975R	S	+	3	2	DUOX1	43230649	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.595000	0.02093	-0.931000	0.03746	-0.258000	0.10820	AGC		PASS	0.547	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		4	57	4	57	---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62219377	62219377	+	Silent	SNP	G	G	T	rs568279338	byFrequency	TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr15:62219377G>T	ENST00000261517.5	-	52	6502	c.6429C>A	c.(6427-6429)ctC>ctA	p.L2143L	VPS13C_ENST00000395896.4_Silent_p.L2143L|VPS13C_ENST00000395898.3_Silent_p.L2100L|VPS13C_ENST00000249837.3_Silent_p.L2100L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.L2143L(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCATCTGTTCGAGTTTGGATG	0.458																																						uc002agz.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(6427-6429)CTC>CTA		vacuolar protein sorting 13C protein isoform 2A							177.0	172.0	174.0					15																	62219377		2203	4300	6503	SO:0001819	synonymous_variant	54832				protein localization			g.chr15:62219377G>T	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.6429C>A	15.37:g.62219377G>T						VPS13C_uc002aha.2_Silent_p.L2100L|VPS13C_uc002ahb.1_Silent_p.L2143L|VPS13C_uc002ahc.1_Silent_p.L2100L	p.L2143L	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			52	6503	-			2143						Silent	SNP	ENST00000261517.5	37	c.6429C>A	CCDS32257.1																																																																																				PASS	0.458	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		5	224	5	224	---	---	---	---
MPI	4351	broad.mit.edu	37	15	75189482	75189482	+	Silent	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr15:75189482C>A	ENST00000352410.4	+	7	1042	c.975C>A	c.(973-975)ctC>ctA	p.L325L	MPI_ENST00000566377.1_Intron|MPI_ENST00000323744.6_Silent_p.L264L|MPI_ENST00000563786.1_Silent_p.L305L|MPI_ENST00000535694.1_Silent_p.L275L|CTD-2235H24.2_ENST00000564692.1_RNA			P34949	MPI_HUMAN	mannose phosphate isomerase	325					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270)	p.L325L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						GGCTCTTTCTCCCAACACGGA	0.532																																						uc002azc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(973-975)CTC>CTA		mannose-6- phosphate isomerase							183.0	156.0	165.0					15																	75189482		2197	4295	6492	SO:0001819	synonymous_variant	4351				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding	g.chr15:75189482C>A		CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	5.3.1.8		7216	protein-coding gene	gene with protein product	"""mannose-6-phosphate isomerase"""	154550					Standard	NM_002435		Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.975C>A	15.37:g.75189482C>A						MPI_uc002azd.1_Intron|MPI_uc010ulx.1_Silent_p.L275L|MPI_uc002aze.1_Silent_p.L264L	p.L325L	NM_002435	NP_002426	P34949	MPI_HUMAN			7	980	+			325					A8K8K9|Q96AB0	Silent	SNP	ENST00000352410.4	37	c.975C>A	CCDS10272.1																																																																																				PASS	0.532	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286418.4			24	77	24	77	---	---	---	---
ZNF598	90850	broad.mit.edu	37	16	2049972	2049972	+	Silent	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr16:2049972G>T	ENST00000563630.1	-	9	1655	c.1413C>A	c.(1411-1413)acC>acA	p.T471T	ZNF598_ENST00000431526.1_Silent_p.T526T|ZNF598_ENST00000562103.1_Silent_p.T471T|AC005606.15_ENST00000567515.1_lincRNA			Q86UK7	ZN598_HUMAN	zinc finger protein 598	526							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.T526T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GGCCGCTGCCGGTAGCCTGCG	0.706																																						uc002cof.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)|breast(1)	2						c.(1576-1578)ACC>ACA		zinc finger protein 598							5.0	7.0	6.0					16																	2049972		1904	4017	5921	SO:0001819	synonymous_variant	90850					intracellular	zinc ion binding	g.chr16:2049972G>T	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1413C>A	16.37:g.2049972G>T						ZNF598_uc002coe.1_5'UTR	p.T526T	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN			11	1593	-			526					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Silent	SNP	ENST00000563630.1	37	c.1578C>A																																																																																					PASS	0.706	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		2	0	2	0	---	---	---	---
C16orf90	646174	broad.mit.edu	37	16	3544563	3544563	+	Silent	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr16:3544563G>A	ENST00000437192.3	-	2	363	c.361C>T	c.(361-363)Ctg>Ttg	p.L121L	LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90	111								p.L121L(1)		large_intestine(1)	1						CGGGCTTCCAGAAGGGCTGAA	0.662																																						uc002cvi.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(361-363)CTG>TTG		hypothetical protein LOC646174							30.0	31.0	31.0					16																	3544563		1968	4134	6102	SO:0001819	synonymous_variant	646174							g.chr16:3544563G>A		CCDS45397.1	16p13.3	2009-01-29			ENSG00000215131	ENSG00000215131			34455	protein-coding gene	gene with protein product							Standard	NM_001080524		Approved	LOC646174	uc002cvi.3	A8MZG2	OTTHUMG00000154627	ENST00000437192.3:c.361C>T	16.37:g.3544563G>A							p.L121L	NM_001080524	NP_001073993	A8MZG2	CP090_HUMAN			2	361	-			111						Silent	SNP	ENST00000437192.3	37	c.361C>T	CCDS45397.1	.	.	.	.	.	.	.	.	.	.	G	3.703	-0.061204	0.07317	.	.	ENSG00000215131	ENST00000399645	.	.	.	5.79	4.84	0.62591	.	.	.	.	.	T	0.63827	0.2544	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62562	-0.6828	4	.	.	.	-14.2351	12.1672	0.54138	0.0798:0.0:0.9202:0.0	.	.	.	.	F	129	.	.	S	-	2	0	C16orf90	3484564	0.968000	0.33430	1.000000	0.80357	0.774000	0.43823	1.644000	0.37228	1.470000	0.48102	-0.119000	0.15052	TCT		PASS	0.662	C16orf90-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346319.2	NM_001080524		7	36	7	36	---	---	---	---
XYLT1	64131	broad.mit.edu	37	16	17211579	17211579	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr16:17211579G>T	ENST00000261381.6	-	11	2565	c.2481C>A	c.(2479-2481)caC>caA	p.H827Q		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	827					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.H827Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCACCCAGTGGTGGAGAATTT	0.537																																						uc002dfa.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(2479-2481)CAC>CAA		xylosyltransferase I							93.0	91.0	92.0					16																	17211579		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17211579G>T	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2481C>A	16.37:g.17211579G>T	ENSP00000261381:p.His827Gln						p.H827Q	NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN			11	2566	-			827			Lumenal (Potential).		Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.2481C>A	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479670	0.26511	.	.	ENSG00000103489	ENST00000261381	T	0.04156	3.69	5.11	-1.04	0.10068	.	0.090535	0.85682	D	0.000000	T	0.03136	0.0092	L	0.39245	1.2	0.53005	D	0.999965	P	0.36874	0.572	B	0.29598	0.104	T	0.54159	-0.8335	10	0.14252	T	0.57	-34.7221	9.9794	0.41804	0.4527:0.0:0.5472:0.0	.	827	Q86Y38	XYLT1_HUMAN	Q	827	ENSP00000261381:H827Q	ENSP00000261381:H827Q	H	-	3	2	XYLT1	17119080	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	1.177000	0.31969	0.001000	0.14605	0.563000	0.77884	CAC		PASS	0.537	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		8	50	8	50	---	---	---	---
ACSM1	116285	broad.mit.edu	37	16	20651905	20651905	+	Splice_Site	SNP	T	T	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr16:20651905T>C	ENST00000307493.4	-	7	1061	c.994A>G	c.(994-996)Atc>Gtc	p.I332V	ACSM1_ENST00000520010.1_Splice_Site_p.I332V|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	332					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.I332V(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GGGAACCTGATGCTTAGAGGA	0.552																																						uc002dhm.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(994-996)ATC>GTC		acyl-CoA synthetase medium-chain family member							81.0	66.0	71.0					16																	20651905		2201	4300	6501	SO:0001630	splice_region_variant	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20651905T>C	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.993-1A>G	16.37:g.20651905T>C						ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Missense_Mutation_p.I332V	p.I332V	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN			7	1062	-			332					Q08AH2|Q96A20	Missense_Mutation	SNP	ENST00000307493.4	37	c.994A>G	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	T	9.786	1.176671	0.21704	.	.	ENSG00000166743	ENST00000307493;ENST00000520010	T;T	0.39997	1.05;1.05	5.36	3.29	0.37713	AMP-dependent synthetase/ligase (1);	0.484707	0.17573	N	0.169382	T	0.27241	0.0668	N	0.20845	0.615	0.80722	D	1	B	0.21688	0.059	B	0.25614	0.062	T	0.12400	-1.0549	10	0.87932	D	0	.	6.9713	0.24650	0.0917:0.0:0.6948:0.2135	.	332	Q08AH1	ACSM1_HUMAN	V	332	ENSP00000301956:I332V;ENSP00000428047:I332V	ENSP00000301956:I332V	I	-	1	0	ACSM1	20559406	0.959000	0.32827	0.845000	0.33349	0.256000	0.26092	1.661000	0.37408	1.260000	0.44134	-0.466000	0.05196	ATC		PASS	0.552	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956	Missense_Mutation	11	31	11	31	---	---	---	---
PRKCB	5579	broad.mit.edu	37	16	24135245	24135245	+	Silent	SNP	G	G	A	rs539838175		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr16:24135245G>A	ENST00000321728.7	+	9	1183	c.1008G>A	c.(1006-1008)cgG>cgA	p.R336R	PRKCB_ENST00000303531.7_Silent_p.R336R	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	336					apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.R336R(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	ACAGAGACCGGATGAAACTGA	0.483																																						uc002dmd.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9						c.(1006-1008)CGG>CGA		protein kinase C, beta isoform 1	Vitamin E(DB00163)						191.0	180.0	184.0					16																	24135245		2197	4300	6497	SO:0001819	synonymous_variant	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24135245G>A	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1008G>A	16.37:g.24135245G>A						PRKCB_uc002dme.2_Silent_p.R336R	p.R336R	NM_212535	NP_997700	P05771	KPCB_HUMAN			9	1205	+			336					C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Silent	SNP	ENST00000321728.7	37	c.1008G>A	CCDS10618.1																																																																																				PASS	0.483	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		23	92	23	92	---	---	---	---
ATXN2L	11273	broad.mit.edu	37	16	28842045	28842045	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr16:28842045C>T	ENST00000336783.4	+	9	1311	c.1144C>T	c.(1144-1146)Cgt>Tgt	p.R382C	ATXN2L_ENST00000325215.6_Missense_Mutation_p.R382C|ATXN2L_ENST00000382686.4_Missense_Mutation_p.R382C|ATXN2L_ENST00000564304.1_Missense_Mutation_p.R382C|ATXN2L_ENST00000340394.8_Missense_Mutation_p.R382C|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_Missense_Mutation_p.R382C|ATXN2L_ENST00000570200.1_Missense_Mutation_p.R382C	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	382					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)	p.R382C(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TTTGCCACCTCGTGGCCCTCA	0.612																																						uc002drc.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1144-1146)CGT>TGT		ataxin 2 related protein isoform A							44.0	44.0	44.0					16																	28842045		2197	4300	6497	SO:0001583	missense	11273					membrane		g.chr16:28842045C>T		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1144C>T	16.37:g.28842045C>T	ENSP00000338718:p.Arg382Cys					uc010vct.1_Intron|ATXN2L_uc010byl.1_Missense_Mutation_p.R382C|ATXN2L_uc002drb.2_Missense_Mutation_p.R382C|ATXN2L_uc002dqy.2_Missense_Mutation_p.R382C|ATXN2L_uc002dra.2_Missense_Mutation_p.R382C|ATXN2L_uc002dqz.2_Missense_Mutation_p.R382C|ATXN2L_uc010vdb.1_Missense_Mutation_p.R382C|ATXN2L_uc002dre.2_Missense_Mutation_p.R382C|ATXN2L_uc002drf.2_5'UTR	p.R382C	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN			9	1312	+			382					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	c.1144C>T	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	32	5.141986	0.94560	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.52295	0.7;0.67;0.68;0.7;0.69	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000001	T	0.68026	0.2956	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.83275	0.996;0.996;0.99;0.99;0.996;0.996;0.99;0.996	T	0.67356	-0.5691	10	0.56958	D	0.05	-9.4427	18.8117	0.92059	0.0:1.0:0.0:0.0	.	382;382;382;382;382;382;382;382	Q8WWM7-6;Q8WWM7-5;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;.;ATX2L_HUMAN;.;.;.;.	C	382	ENSP00000341459:R382C;ENSP00000378917:R382C;ENSP00000338718:R382C;ENSP00000372133:R382C;ENSP00000315650:R382C	ENSP00000315650:R382C	R	+	1	0	ATXN2L	28749546	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.301000	0.65727	2.750000	0.94351	0.563000	0.77884	CGT		PASS	0.612	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		11	24	11	24	---	---	---	---
SPNS1	83985	broad.mit.edu	37	16	28994515	28994515	+	Silent	SNP	C	C	T	rs201354349	byFrequency	TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr16:28994515C>T	ENST00000311008.11	+	10	1601	c.1224C>T	c.(1222-1224)taC>taT	p.Y408Y	LAT_ENST00000566177.1_5'Flank|LAT_ENST00000564277.1_5'Flank|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000565975.1_Silent_p.Y453Y|LAT_ENST00000395461.3_5'Flank|LAT_ENST00000354453.4_5'Flank|SPNS1_ENST00000323081.8_Silent_p.Y335Y|LAT_ENST00000395456.2_5'Flank|LAT_ENST00000360872.5_5'Flank|SPNS1_ENST00000334536.8_Silent_p.Y356Y|LAT_ENST00000454369.2_5'Flank|SPNS1_ENST00000352260.7_Silent_p.Y334Y	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	408					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)		p.Y408Y(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						CTCCACAGTACGTGGTGATCC	0.662													C|||	5	0.000998403	0.0	0.0072	5008	,	,		15578	0.0		0.0	False		,,,				2504	0.0					uc010vdi.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1222-1224)TAC>TAT		spinster homolog 1 isoform 1							63.0	53.0	56.0					16																	28994515		2197	4300	6497	SO:0001819	synonymous_variant	83985				lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding	g.chr16:28994515C>T	BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.1224C>T	16.37:g.28994515C>T						uc010vct.1_Intron|SPNS1_uc002drx.2_Silent_p.Y335Y|SPNS1_uc002dsa.2_Silent_p.Y408Y|SPNS1_uc002drz.2_Silent_p.Y356Y|SPNS1_uc010byp.2_Silent_p.Y334Y|SPNS1_uc010byq.1_Silent_p.Y340Y|LAT_uc010vdj.1_5'Flank|LAT_uc002dsb.2_5'Flank|LAT_uc002dsd.2_5'Flank|LAT_uc002dsc.2_5'Flank|LAT_uc010vdk.1_5'Flank|LAT_uc010vdl.1_5'Flank	p.Y408Y	NM_001142448	NP_001135920	Q9H2V7	SPNS1_HUMAN			11	1364	+			408					B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Silent	SNP	ENST00000311008.11	37	c.1224C>T	CCDS10646.1																																																																																				PASS	0.662	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254690.2	NM_032038		6	15	6	15	---	---	---	---
ITFG1	81533	broad.mit.edu	37	16	47196508	47196508	+	Silent	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr16:47196508C>T	ENST00000320640.6	-	15	1749	c.1521G>A	c.(1519-1521)cgG>cgA	p.R507R	ITFG1_ENST00000544001.2_Silent_p.R394R|RP11-329J18.2_ENST00000564705.1_RNA|RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000568047.1_5'UTR	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	507						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R507R(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				AATTTGCGCTCCGACCTAAAC	0.363																																						uc002eet.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1519-1521)CGG>CGA		integrin alpha FG-GAP repeat containing 1							101.0	103.0	103.0					16																	47196508		2202	4300	6502	SO:0001819	synonymous_variant	81533					extracellular region|integral to membrane		g.chr16:47196508C>T	AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"""T cell immunomodulatory protein"""	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1521G>A	16.37:g.47196508C>T						ITFG1_uc010vgg.1_Silent_p.R252R|ITFG1_uc010vgh.1_Silent_p.R394R	p.R507R	NM_030790	NP_110417	Q8TB96	TIP_HUMAN			15	1583	-		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)	507					Q96SR4|Q9BRE2|Q9H2V9	Silent	SNP	ENST00000320640.6	37	c.1521G>A	CCDS10728.1																																																																																				PASS	0.363	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790		20	80	20	80	---	---	---	---
GPR97	222487	broad.mit.edu	37	16	57712152	57712152	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr16:57712152G>A	ENST00000333493.4	+	4	577	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Missense_Mutation_p.R19Q|GPR97_ENST00000327655.6_5'UTR	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	139					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R139Q(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGCCTTTTTCGATCCCTGCCA	0.572																																						uc002emh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(415-417)CGA>CAA		G protein-coupled receptor 97 precursor							149.0	128.0	135.0					16																	57712152		2198	4300	6498	SO:0001583	missense	222487				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57712152G>A	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"""-"", ""GPCR / Class B : Orphans"""	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.416G>A	16.37:g.57712152G>A	ENSP00000332900:p.Arg139Gln					GPR97_uc010cdc.2_Missense_Mutation_p.R139Q|GPR97_uc010vhv.1_Missense_Mutation_p.R19Q|GPR97_uc010cdd.2_RNA|GPR97_uc010cde.2_5'Flank	p.R139Q	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN			4	519	+			139			Extracellular (Potential).		Q6ZMF4|Q86SL9|Q8IZF1	Missense_Mutation	SNP	ENST00000333493.4	37	c.416G>A	CCDS10786.1	.	.	.	.	.	.	.	.	.	.	G	9.868	1.198277	0.22037	.	.	ENSG00000182885	ENST00000333493;ENST00000450388	T;T	0.26957	1.7;1.7	5.1	-10.2	0.00374	.	3.826100	0.00721	N	0.000886	T	0.07098	0.0180	N	0.02539	-0.55	0.09310	N	0.999999	B;P	0.34412	0.071;0.453	B;B	0.14578	0.006;0.011	T	0.16364	-1.0405	10	0.26408	T	0.33	.	8.632	0.33926	0.4774:0.3821:0.1405:0.0	.	19;139	B4DVW2;Q86Y34	.;GPR97_HUMAN	Q	139;19	ENSP00000332900:R139Q;ENSP00000404803:R19Q	ENSP00000332900:R139Q	R	+	2	0	GPR97	56269653	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-2.999000	0.00653	-2.562000	0.00473	-0.363000	0.07495	CGA		PASS	0.572	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776		12	55	12	55	---	---	---	---
CDH8	1006	broad.mit.edu	37	16	61851395	61851395	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr16:61851395G>T	ENST00000577390.1	-	7	2219	c.1265C>A	c.(1264-1266)tCc>tAc	p.S422Y	CDH8_ENST00000299345.6_Missense_Mutation_p.S422Y|CDH8_ENST00000584337.1_Missense_Mutation_p.S422Y|CDH8_ENST00000577730.1_Missense_Mutation_p.S422Y	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	422	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.S422Y(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TATAGGACTGGAAGTGATATC	0.433																																						uc002eog.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(2)|breast(1)	9						c.(1264-1266)TCC>TAC		cadherin 8, type 2 preproprotein							65.0	63.0	64.0					16																	61851395		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61851395G>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1265C>A	16.37:g.61851395G>T	ENSP00000462701:p.Ser422Tyr					CDH8_uc002eoh.2_Missense_Mutation_p.S191Y	p.S422Y	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	7	1517	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	422			Extracellular (Potential).|Cadherin 4.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.1265C>A	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.847866	0.51164	.	.	ENSG00000150394	ENST00000299345	T	0.52754	0.65	6.08	6.08	0.98989	Cadherin (4);Cadherin-like (1);	0.545381	0.22798	N	0.055519	T	0.57725	0.2073	L	0.52573	1.65	0.09310	N	0.999997	P;P	0.44776	0.843;0.592	P;B	0.49421	0.61;0.396	T	0.54450	-0.8292	10	0.87932	D	0	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	238;422	Q3LID3;P55286	.;CADH8_HUMAN	Y	422	ENSP00000299345:S422Y	ENSP00000299345:S422Y	S	-	2	0	CDH8	60408896	0.432000	0.25554	0.970000	0.41538	0.995000	0.86356	3.189000	0.50965	2.894000	0.99253	0.655000	0.94253	TCC		PASS	0.433	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		8	52	8	52	---	---	---	---
C16orf86	388284	broad.mit.edu	37	16	67701881	67701881	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr16:67701881G>A	ENST00000403458.4	+	3	588	c.433G>A	c.(433-435)Gag>Aag	p.E145K	ENKD1_ENST00000602644.1_5'Flank|ENKD1_ENST00000602409.1_5'Flank|ENKD1_ENST00000243878.4_5'Flank|C16orf86_ENST00000602974.1_3'UTR	NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN	chromosome 16 open reading frame 86	145								p.E145K(2)|p.E160K(1)		endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CAGCCAGAGTGAGCCCTCACC	0.622											OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ety.2																			3	Substitution - Missense(3)		lung(3)		0						c.(433-435)GAG>AAG		hypothetical protein LOC388284							76.0	66.0	69.0					16																	67701881		2198	4300	6498	SO:0001583	missense	388284							g.chr16:67701881G>A		CCDS32468.2	16q22.1	2008-10-30			ENSG00000159761	ENSG00000159761			33755	protein-coding gene	gene with protein product							Standard	NM_001012984		Approved	FLJ41802	uc002ety.3	Q6ZW13	OTTHUMG00000150527	ENST00000403458.4:c.433G>A	16.37:g.67701881G>A	ENSP00000384117:p.Glu145Lys		OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1101	C16orf48_uc002etw.1_5'Flank|C16orf48_uc010cem.1_5'Flank|C16orf86_uc002etx.1_Missense_Mutation_p.E160K|C16orf86_uc002etz.2_RNA	p.E145K	NM_001012984	NP_001013002	Q6ZW13	CP086_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	3	590	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	145					B5MCW6	Missense_Mutation	SNP	ENST00000403458.4	37	c.433G>A	CCDS32468.2	.	.	.	.	.	.	.	.	.	.	G	18.76	3.693721	0.68386	.	.	ENSG00000159761	ENST00000403458	.	.	.	5.29	4.35	0.52113	.	.	.	.	.	T	0.33876	0.0878	L	0.32530	0.975	0.25788	N	0.984659	P	0.36144	0.539	B	0.35931	0.214	T	0.26849	-1.0091	8	0.87932	D	0	-13.1265	11.123	0.48302	0.0855:0.0:0.9145:0.0	.	145	Q6ZW13	CP086_HUMAN	K	145	.	ENSP00000384117:E145K	E	+	1	0	C16orf86	66259382	0.095000	0.21747	0.198000	0.23420	0.593000	0.36681	1.839000	0.39220	1.482000	0.48325	0.467000	0.42956	GAG		PASS	0.622	C16orf86-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318767.2	NM_001012984		6	24	6	24	---	---	---	---
ZFP90	146198	broad.mit.edu	37	16	68598587	68598587	+	Silent	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr16:68598587C>A	ENST00000570495.1	+	5	2189	c.1897C>A	c.(1897-1899)Cga>Aga	p.R633R	ZFP90_ENST00000563169.2_Silent_p.R633R|ZFP90_ENST00000398253.2_Silent_p.R633R			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	633					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.R633R(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		AATTCATACTCGAAATAAACT	0.378																																						uc010cff.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1897-1899)CGA>AGA		zinc finger protein 90							58.0	61.0	60.0					16																	68598587		1978	4188	6166	SO:0001819	synonymous_variant	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68598587C>A	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1897C>A	16.37:g.68598587C>A						ZFP90_uc002ewb.2_3'UTR|ZFP90_uc002ewc.2_3'UTR|ZFP90_uc002ewd.2_Silent_p.R633R|ZFP90_uc002ewe.2_Silent_p.R633R	p.R633R	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	5	2189	+		Ovarian(137;0.192)	633					B2RU00|B3KVE7|Q49AD1|Q96MQ6	Silent	SNP	ENST00000570495.1	37	c.1897C>A	CCDS42183.1																																																																																				PASS	0.378	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		4	61	4	61	---	---	---	---
ZNF19	7567	broad.mit.edu	37	16	71510125	71510125	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr16:71510125C>G	ENST00000288177.5	-	6	580	c.325G>C	c.(325-327)Gaa>Caa	p.E109Q	ZNF19_ENST00000565100.2_Missense_Mutation_p.E39Q|ZNF19_ENST00000565637.1_Missense_Mutation_p.E67Q|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000564230.1_Missense_Mutation_p.E109Q|ZNF19_ENST00000567225.1_Intron	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	109					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.E109Q(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		TCTCTTTCTTCAGAAATTCCC	0.428																																						uc010cgc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(325-327)GAA>CAA		zinc finger protein 19							98.0	87.0	91.0					16																	71510125		2198	4300	6498	SO:0001583	missense	7567					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:71510125C>G	X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429		"""Zinc fingers, C2H2-type"", ""-"""	12981	protein-coding gene	gene with protein product		194525	"""zinc finger protein 19 (KOX 12)"""			1505991, 1946370	Standard	NM_006961		Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000288177.5:c.325G>C	16.37:g.71510125C>G	ENSP00000288177:p.Glu109Gln					ZNF23_uc002fai.2_Intron|ZNF19_uc002fak.1_Missense_Mutation_p.E97Q|ZNF19_uc002fal.1_Missense_Mutation_p.E97Q|ZNF19_uc002fam.1_Missense_Mutation_p.E109Q	p.E109Q	NM_006961	NP_008892	P17023	ZNF19_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)	6	831	-		Ovarian(137;0.00965)	109					A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Missense_Mutation	SNP	ENST00000288177.5	37	c.325G>C	CCDS10901.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078569	0.36662	.	.	ENSG00000157429	ENST00000288177	T	0.05447	3.44	3.24	3.24	0.37175	.	0.200724	0.24991	N	0.033989	T	0.05090	0.0136	N	0.24115	0.695	0.23361	N	0.997834	B	0.20052	0.041	B	0.21360	0.034	T	0.36383	-0.9750	10	0.27785	T	0.31	.	12.7824	0.57485	0.0:1.0:0.0:0.0	.	109	P17023	ZNF19_HUMAN	Q	109	ENSP00000288177:E109Q	ENSP00000288177:E109Q	E	-	1	0	ZNF19	70067626	0.000000	0.05858	0.688000	0.30117	0.066000	0.16364	0.086000	0.14935	2.117000	0.64856	0.655000	0.94253	GAA		PASS	0.428	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268993.2	NM_006961		7	40	7	40	---	---	---	---
PMFBP1	83449	broad.mit.edu	37	16	72166752	72166752	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr16:72166752C>G	ENST00000237353.10	-	10	1603	c.1342G>C	c.(1342-1344)Gct>Cct	p.A448P	PMFBP1_ENST00000355636.6_Missense_Mutation_p.A303P|PMFBP1_ENST00000537465.1_Missense_Mutation_p.A448P	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	448						cytoplasm (GO:0005737)		p.A448P(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TCCTGCTTAGCCTCCTTGACT	0.542																																						uc002fcc.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1342-1344)GCT>CCT		polyamine modulated factor 1 binding protein 1							167.0	135.0	146.0					16																	72166752		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72166752C>G	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.1342G>C	16.37:g.72166752C>G	ENSP00000237353:p.Ala448Pro					PMFBP1_uc002fcd.2_Missense_Mutation_p.A448P|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.A303P	p.A448P	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN			10	1514	-		Ovarian(137;0.179)	448			Potential.		B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.1342G>C	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388478	0.61956	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.15487	2.43;2.43;2.42	4.68	2.69	0.31865	.	1.640540	0.03968	N	0.291161	T	0.19565	0.0470	L	0.29908	0.895	0.31317	N	0.686519	P;P;P	0.47677	0.899;0.899;0.899	P;B;P	0.48227	0.571;0.374;0.571	T	0.12578	-1.0542	10	0.38643	T	0.18	2.1913	6.9753	0.24672	0.171:0.738:0.0:0.091	.	448;448;448	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	P	448;448;303	ENSP00000443817:A448P;ENSP00000237353:A448P;ENSP00000347854:A303P	ENSP00000237353:A448P	A	-	1	0	PMFBP1	70724253	0.019000	0.18553	0.404000	0.26397	0.224000	0.24922	0.443000	0.21644	0.391000	0.25143	0.561000	0.74099	GCT		PASS	0.542	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		12	61	12	61	---	---	---	---
CHST5	23563	broad.mit.edu	37	16	75563809	75563809	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr16:75563809G>T	ENST00000336257.3	-	3	1868	c.474C>A	c.(472-474)agC>agA	p.S158R	CHST5_ENST00000541075.1_Missense_Mutation_p.S164R|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	158					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.S158R(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GGGGAAAGGCGCTGCAGGCGG	0.642																																						uc002fei.2																			1	Substitution - Missense(1)		lung(1)		0						c.(472-474)AGC>AGA		carbohydrate (N-acetylglucosamine 6-O)							83.0	86.0	85.0					16																	75563809		2198	4299	6497	SO:0001583	missense	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75563809G>T	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.474C>A	16.37:g.75563809G>T	ENSP00000338783:p.Ser158Arg					CHST5_uc002fej.1_Missense_Mutation_p.S164R	p.S158R	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN			3	1869	-			158			Lumenal (Potential).		B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	ENST00000336257.3	37	c.474C>A	CCDS10919.1	.	.	.	.	.	.	.	.	.	.	G	6.553	0.470380	0.12461	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	D;D	0.96522	-4.04;-4.04	2.73	-0.793	0.10922	Sulfotransferase domain (1);	0.989497	0.08256	N	0.973897	D	0.93926	0.8056	L	0.33189	0.99	0.09310	N	1	P;P	0.50156	0.916;0.932	P;P	0.56751	0.705;0.805	D	0.86272	0.1662	10	0.14656	T	0.56	.	3.0878	0.06284	0.3522:0.0:0.4582:0.1896	.	164;158	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	R	158;164	ENSP00000338783:S158R;ENSP00000441220:S164R	ENSP00000338783:S158R	S	-	3	2	CHST5	74121310	0.023000	0.18921	0.243000	0.24186	0.098000	0.18820	0.017000	0.13399	-0.286000	0.09076	0.313000	0.20887	AGC		PASS	0.642	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		15	74	15	74	---	---	---	---
VPS9D1	9605	broad.mit.edu	37	16	89777102	89777102	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr16:89777102C>G	ENST00000389386.3	-	10	1274	c.1150G>C	c.(1150-1152)Gag>Cag	p.E384Q	VPS9D1_ENST00000561976.1_Missense_Mutation_p.E314Q|VPS9D1_ENST00000565452.1_5'Flank|VPS9D1-AS1_ENST00000562866.1_RNA	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	384					ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)	p.E384Q(1)									AGGAACTGCTCCAGGTCCTCG	0.692																																						uc002fom.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1150-1152)GAG>CAG		chromosome 16 open reading frame 7							12.0	14.0	13.0					16																	89777102		1976	4146	6122	SO:0001583	missense	9605				ATP synthesis coupled proton transport		GTPase activator activity|transporter activity	g.chr16:89777102C>G	AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 7"""	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.1150G>C	16.37:g.89777102C>G	ENSP00000374037:p.Glu384Gln					C16orf7_uc002fol.1_Missense_Mutation_p.E314Q|uc002fon.1_5'Flank	p.E384Q	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	10	1275	-		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	384						Missense_Mutation	SNP	ENST00000389386.3	37	c.1150G>C	CCDS42220.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.987590|3.987590	0.74589|0.74589	.|.	.|.	ENSG00000075399|ENSG00000075399	ENST00000389386|ENST00000261625	.|.	.|.	.|.	4.04|4.04	4.04|4.04	0.47022|0.47022	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73900|0.73900	0.3646|0.3646	M|M	0.69823|0.69823	2.125|2.125	0.51482|0.51482	D|D	0.999923|0.999923	D|.	0.89917|.	1.0|.	D|.	0.80764|.	0.994|.	T|T	0.78160|0.78160	-0.2312|-0.2312	9|6	0.59425|0.66056	D|D	0.04|0.02	-23.7686|-23.7686	15.1207|15.1207	0.72441|0.72441	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	384|.	Q9Y2B5|.	CP007_HUMAN|.	Q|C	384|414	.|.	ENSP00000374037:E384Q|ENSP00000261625:W414C	E|W	-|-	1|3	0|0	C16orf7|C16orf7	88304603|88304603	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.422000|0.422000	0.31414|0.31414	4.931000|4.931000	0.63469|0.63469	1.967000|1.967000	0.57214|0.57214	0.561000|0.561000	0.74099|0.74099	GAG|TGG		PASS	0.692	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422508.1	NM_004913		3	3	3	3	---	---	---	---
OR1D2	4991	broad.mit.edu	37	17	2996205	2996205	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr17:2996205C>A	ENST00000331459.1	-	1	85	c.86G>T	c.(85-87)tGg>tTg	p.W29L		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	29					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W29L(1)		kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						CAGGAACATCCAAAACAGGAT	0.542																																						uc010vrb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(85-87)TGG>TTG		olfactory receptor, family 1, subfamily D,							107.0	101.0	103.0					17																	2996205		2203	4300	6503	SO:0001583	missense	4991				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr17:2996205C>A	U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"""GPCR / Class A : Olfactory receptors"""	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.86G>T	17.37:g.2996205C>A	ENSP00000327585:p.Trp29Leu						p.W29L	NM_002548	NP_002539	P34982	OR1D2_HUMAN			1	86	-			29			Helical; Name=1; (Potential).		Q6IFL8|Q96RA4|Q9UM78	Missense_Mutation	SNP	ENST00000331459.1	37	c.86G>T	CCDS11019.1	.	.	.	.	.	.	.	.	.	.	C	9.591	1.126125	0.20959	.	.	ENSG00000184166	ENST00000331459	T	0.00388	7.59	3.42	1.19	0.21007	.	.	.	.	.	T	0.00178	0.0005	N	0.00656	-1.285	0.09310	N	1	P	0.41313	0.745	P	0.46850	0.529	T	0.55585	-0.8118	9	0.56958	D	0.05	.	9.5067	0.39051	0.5533:0.4467:0.0:0.0	.	29	P34982	OR1D2_HUMAN	L	29	ENSP00000327585:W29L	ENSP00000327585:W29L	W	-	2	0	OR1D2	2942955	0.000000	0.05858	0.004000	0.12327	0.627000	0.37826	0.805000	0.27112	0.091000	0.17302	0.543000	0.68304	TGG		PASS	0.542	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548		5	91	5	91	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	A	rs121912656|rs397516437		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr17:7577547C>A	ENST00000269305.4	-	7	923	c.734G>T	c.(733-735)gGc>gTc	p.G245V	TP53_ENST00000420246.2_Missense_Mutation_p.G245V|TP53_ENST00000413465.2_Missense_Mutation_p.G245V|TP53_ENST00000359597.4_Missense_Mutation_p.G245V|TP53_ENST00000445888.2_Missense_Mutation_p.G245V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G245V	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CCGGTTCATGCCGCCCATGCA	0.582		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		219	Substitution - Missense(191)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)	p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245del(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(37)|lung(32)|oesophagus(23)|breast(22)|ovary(18)|upper_aerodigestive_tract(16)|haematopoietic_and_lymphoid_tissue(15)|liver(9)|prostate(7)|stomach(6)|central_nervous_system(6)|skin(6)|biliary_tract(5)|urinary_tract(5)|bone(5)|pancreas(4)|cervix(1)|vulva(1)|endometrium(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM010464|CM900209	TP53	M	rs121912656	c.(733-735)GGC>GTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							151.0	113.0	126.0					17																	7577547		2203	4300	6503	SO:0001583	missense	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.chr17:7577547C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.734G>T	17.37:g.7577547C>A	ENSP00000269305:p.Gly245Val	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_Missense_Mutation_p.G245V|TP53_uc002gih.2_Missense_Mutation_p.G245V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113V|TP53_uc010cng.1_Missense_Mutation_p.G113V|TP53_uc002gii.1_Missense_Mutation_p.G113V|TP53_uc010cnh.1_Missense_Mutation_p.G245V|TP53_uc010cni.1_Missense_Mutation_p.G245V|TP53_uc002gij.2_Missense_Mutation_p.G245V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152V|TP53_uc002gio.2_Missense_Mutation_p.G113V	p.G245V	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	928	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.734G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563102	0.86335	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.91920	3.255	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;1.0	D	0.96045	0.9027	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	.	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	V	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245V;ENSP00000352610:G245V;ENSP00000269305:G245V;ENSP00000398846:G245V;ENSP00000391127:G245V;ENSP00000391478:G245V;ENSP00000425104:G113V;ENSP00000423862:G152V	ENSP00000269305:G245V	G	-	2	0	TP53	7518272	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		PASS	0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		9	26	9	26	---	---	---	---
PER1	5187	broad.mit.edu	37	17	8051027	8051027	+	Silent	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr17:8051027C>T	ENST00000317276.4	-	11	1590	c.1353G>A	c.(1351-1353)aaG>aaA	p.K451K	PER1_ENST00000578089.1_5'Flank|PER1_ENST00000354903.5_Silent_p.K435K|PER1_ENST00000581082.1_Silent_p.K431K	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	451	PAC.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.K451K(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGAAGGCTACCTTGCGGCTCC	0.647			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														uc002gkd.2				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		AML|CMML		1	Substitution - coding silent(1)		lung(1)	lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						c.(1351-1353)AAG>AAA	Other_conserved_DNA_damage_response_genes	period 1							37.0	39.0	38.0					17																	8051027		2203	4300	6503	SO:0001819	synonymous_variant	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8051027C>T	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.1353G>A	17.37:g.8051027C>T						PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Silent_p.K435K	p.K451K	NM_002616	NP_002607	O15534	PER1_HUMAN			11	1591	-			451			PAC.		B2RPA8|B4DI49|D3DTR3	Silent	SNP	ENST00000317276.4	37	c.1353G>A	CCDS11131.1																																																																																				PASS	0.647	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			3	11	3	11	---	---	---	---
KRBA2	124751	broad.mit.edu	37	17	8272809	8272809	+	Silent	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr17:8272809G>T	ENST00000331336.2	-	2	1127	c.1122C>A	c.(1120-1122)acC>acA	p.T374T	RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA|KRBA2_ENST00000396267.1_Silent_p.T292T	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	374	Integrase catalytic. {ECO:0000255|PROSITE-ProRule:PRU00457}.				DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)	p.T374T(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TCTGCATCCAGGTACTTATCA	0.507																																						uc002glf.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1120-1122)ACC>ACA		KRAB-A domain containing 2							113.0	104.0	107.0					17																	8272809		2203	4300	6503	SO:0001819	synonymous_variant	124751				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding	g.chr17:8272809G>T	BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"""-"""	26989	protein-coding gene	gene with protein product			"""KRAB A domain containing 2"""			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.1122C>A	17.37:g.8272809G>T						KRBA2_uc002glg.1_Silent_p.T291T	p.T374T	NM_213597	NP_998762	Q6ZNG9	KRBA2_HUMAN			2	1128	-			374			Integrase catalytic.		Q8IYY0	Silent	SNP	ENST00000331336.2	37	c.1122C>A	CCDS11141.1																																																																																				PASS	0.507	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	NM_213597		5	52	5	52	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10427107	10427107	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr17:10427107G>A	ENST00000245503.5	-	36	5654	c.5270C>T	c.(5269-5271)gCa>gTa	p.A1757V	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.A1757V|MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1757					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.A1757V(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTTTTCTTCTGCATTGCGGGC	0.458																																						uc010coi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(5269-5271)GCA>GTA		myosin heavy chain IIa							188.0	166.0	174.0					17																	10427107		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10427107G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5270C>T	17.37:g.10427107G>A	ENSP00000245503:p.Ala1757Val					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.A1757V|MYH2_uc010coj.2_Intron	p.A1757V	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			36	5398	-			1757			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.5270C>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.929526	0.73327	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.82344	-1.6;-1.6	5.4	5.4	0.78164	Myosin tail (1);	0.000000	0.39020	U	0.001492	D	0.88138	0.6356	M	0.88640	2.97	0.80722	D	1	B	0.13594	0.008	B	0.29785	0.107	D	0.85882	0.1423	10	0.66056	D	0.02	.	19.3641	0.94454	0.0:0.0:1.0:0.0	.	1757	Q9UKX2	MYH2_HUMAN	V	1757	ENSP00000245503:A1757V;ENSP00000380367:A1757V	ENSP00000245503:A1757V	A	-	2	0	MYH2	10367832	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.640000	0.98453	2.805000	0.96524	0.609000	0.83330	GCA		PASS	0.458	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		18	44	18	44	---	---	---	---
MYO15A	51168	broad.mit.edu	37	17	18022930	18022930	+	Silent	SNP	A	A	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr17:18022930A>G	ENST00000205890.5	+	2	1154	c.816A>G	c.(814-816)ccA>ccG	p.P272P		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	272					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.P272P(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGGCCTGGCCACCCTACGGCG	0.662																																						uc010vxh.1																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(814-816)CCA>CCG		myosin XV							29.0	35.0	33.0					17																	18022930		2023	4162	6185	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18022930A>G	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.816A>G	17.37:g.18022930A>G							p.P272P	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			2	1154	+	all_neural(463;0.228)		272			Myosin head-like.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.816A>G	CCDS42271.1																																																																																				PASS	0.662	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		5	15	5	15	---	---	---	---
AP2B1	163	broad.mit.edu	37	17	33953725	33953725	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr17:33953725G>C	ENST00000262325.7	+	7	1355	c.802G>C	c.(802-804)Gaa>Caa	p.E268Q	AP2B1_ENST00000592545.1_Missense_Mutation_p.E230Q|AP2B1_ENST00000537622.2_Missense_Mutation_p.E268Q|AP2B1_ENST00000312678.8_Missense_Mutation_p.E268Q|AP2B1_ENST00000538556.1_Missense_Mutation_p.E211Q|AP2B1_ENST00000589344.1_Missense_Mutation_p.E268Q|AP2B1_ENST00000545922.2_3'UTR	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	268					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)	p.E268Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GAAGTTTCTAGAATTGTTACC	0.483																																						uc002hjr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(802-804)GAA>CAA		adaptor-related protein complex 2, beta 1							141.0	149.0	146.0					17																	33953725		2203	4300	6503	SO:0001583	missense	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:33953725G>C	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.802G>C	17.37:g.33953725G>C	ENSP00000262325:p.Glu268Gln					AP2B1_uc002hjq.2_Missense_Mutation_p.E268Q|AP2B1_uc010wci.1_Missense_Mutation_p.E230Q|AP2B1_uc002hjs.2_Missense_Mutation_p.E211Q|AP2B1_uc002hjt.2_Missense_Mutation_p.E268Q|AP2B1_uc010ctv.2_Missense_Mutation_p.E268Q|AP2B1_uc010wcj.1_Missense_Mutation_p.E5Q	p.E268Q	NM_001282	NP_001273	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	7	991	+		Ovarian(249;0.17)	268					A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	c.802G>C	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920038	0.92249	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	5.75	5.75	0.90469	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.46308	0.1386	L	0.54323	1.7	0.80722	D	1	D;B;B;B	0.55172	0.97;0.361;0.332;0.058	P;B;B;B	0.61477	0.889;0.388;0.093;0.01	T	0.25363	-1.0134	10	0.59425	D	0.04	-2.9562	18.9407	0.92604	0.0:0.0:1.0:0.0	.	5;230;268;268	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	Q	268;268;211;268;5	ENSP00000262325:E268Q;ENSP00000314414:E268Q;ENSP00000440563:E211Q;ENSP00000437413:E268Q	ENSP00000262325:E268Q	E	+	1	0	AP2B1	30977838	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.808000	0.99193	2.719000	0.93026	0.655000	0.94253	GAA		PASS	0.483	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			46	141	46	141	---	---	---	---
MED24	9862	broad.mit.edu	37	17	38183201	38183201	+	Silent	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr17:38183201G>A	ENST00000394128.2	-	17	1698	c.1617C>T	c.(1615-1617)atC>atT	p.I539I	SNORD124_ENST00000459577.1_RNA|MED24_ENST00000394126.1_Silent_p.I564I|MED24_ENST00000394127.2_Silent_p.I526I|MED24_ENST00000501516.3_Silent_p.I558I|MED24_ENST00000356271.3_Silent_p.I526I	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	539					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.I539I(1)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					CAGGGTTCAGGATCTTGCCCT	0.602											OREG0024386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002htt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1615-1617)ATC>ATT		mediator complex subunit 24 isoform 1							55.0	51.0	52.0					17																	38183201		2203	4300	6503	SO:0001819	synonymous_variant	9862				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:38183201G>A	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.1617C>T	17.37:g.38183201G>A			OREG0024386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	876	MED24_uc010wes.1_Silent_p.I399I|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Silent_p.I564I|MED24_uc002htu.2_Silent_p.I526I|MED24_uc010cwn.2_Silent_p.I526I|MED24_uc010weu.1_Silent_p.I449I|MED24_uc010wev.1_Silent_p.I489I|MED24_uc010wew.1_Silent_p.I480I|MED24_uc010wex.1_Silent_p.I244I|SNORD124_uc010wey.1_5'Flank	p.I539I	NM_014815	NP_055630	O75448	MED24_HUMAN			17	1930	-	Colorectal(19;0.000442)		539					A8K4S5|B3KMR9|Q14143|Q9NNY5	Silent	SNP	ENST00000394128.2	37	c.1617C>T	CCDS11359.1																																																																																				PASS	0.602	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815		7	24	7	24	---	---	---	---
UBTF	7343	broad.mit.edu	37	17	42289033	42289033	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr17:42289033G>A	ENST00000302904.4	-	10	1480	c.988C>T	c.(988-990)Cag>Tag	p.Q330*	UBTF_ENST00000436088.1_Nonsense_Mutation_p.Q330*|UBTF_ENST00000527034.1_Nonsense_Mutation_p.Q293*|UBTF_ENST00000533177.1_Nonsense_Mutation_p.Q293*|UBTF_ENST00000529383.1_Nonsense_Mutation_p.Q330*|UBTF_ENST00000343638.5_Nonsense_Mutation_p.Q293*|UBTF_ENST00000393606.3_Nonsense_Mutation_p.Q293*|UBTF_ENST00000526094.1_Nonsense_Mutation_p.Q293*|CTB-175E5.7_ENST00000586560.1_RNA			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	330					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.Q330*(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TTCCACTGCTGGCTGCACAGC	0.592																																						uc002igb.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(988-990)CAG>TAG		upstream binding transcription factor, RNA							94.0	87.0	89.0					17																	42289033		2203	4300	6503	SO:0001587	stop_gained	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42289033G>A	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.988C>T	17.37:g.42289033G>A	ENSP00000302640:p.Gln330*					UBTF_uc002igc.2_Nonsense_Mutation_p.Q293*|UBTF_uc010czs.2_Nonsense_Mutation_p.Q330*|UBTF_uc002igd.2_Nonsense_Mutation_p.Q293*|UBTF_uc010czt.2_Nonsense_Mutation_p.Q330*|UBTF_uc002ige.2_Nonsense_Mutation_p.Q293*	p.Q330*	NM_014233	NP_055048	P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	9	1055	-		Breast(137;0.00765)|Prostate(33;0.0181)	330			HMG box 3.		A8K6R8	Nonsense_Mutation	SNP	ENST00000302904.4	37	c.988C>T	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	g	39	7.683241	0.98431	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383	.	.	.	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-38.9518	16.7668	0.85526	0.0:0.0:1.0:0.0	.	.	.	.	X	293;330;293;293;330;293;293;330	.	ENSP00000302640:Q330X	Q	-	1	0	UBTF	39644559	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.215000	0.72206	2.291000	0.77112	0.491000	0.48974	CAG		PASS	0.592	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		24	58	24	58	---	---	---	---
UBTF	7343	broad.mit.edu	37	17	42293285	42293285	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr17:42293285T>G	ENST00000302904.4	-	4	799	c.307A>C	c.(307-309)Aaa>Caa	p.K103Q	UBTF_ENST00000436088.1_Missense_Mutation_p.K103Q|UBTF_ENST00000527034.1_Missense_Mutation_p.K103Q|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000533177.1_Missense_Mutation_p.K103Q|UBTF_ENST00000529383.1_Missense_Mutation_p.K103Q|UBTF_ENST00000343638.5_Missense_Mutation_p.K103Q|UBTF_ENST00000393606.3_Missense_Mutation_p.K103Q|UBTF_ENST00000526094.1_Missense_Mutation_p.K103Q|CTB-175E5.7_ENST00000586560.1_RNA			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	103					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.K103Q(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TTGAGTTTTTTGCCTTTGTAA	0.478																																						uc002igb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(307-309)AAA>CAA		upstream binding transcription factor, RNA							159.0	147.0	151.0					17																	42293285		2203	4300	6503	SO:0001583	missense	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42293285T>G	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.307A>C	17.37:g.42293285T>G	ENSP00000302640:p.Lys103Gln					UBTF_uc002igc.2_Missense_Mutation_p.K103Q|UBTF_uc010czs.2_Missense_Mutation_p.K103Q|UBTF_uc002igd.2_Missense_Mutation_p.K103Q|UBTF_uc010czt.2_Missense_Mutation_p.K103Q|UBTF_uc002ige.2_Missense_Mutation_p.K103Q	p.K103Q	NM_014233	NP_055048	P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	3	374	-		Breast(137;0.00765)|Prostate(33;0.0181)	103					A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	37	c.307A>C	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	t	16.86	3.240132	0.58995	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383	D;D;D;D;D;D;D;D	0.98822	-5.15;-4.41;-5.16;-5.15;-4.41;-5.15;-5.15;-4.41	4.68	3.61	0.41365	High mobility group, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98108	0.9376	L	0.41710	1.295	0.49299	D	0.999772	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.81914	0.995;0.934;0.993	D	0.97128	0.9816	10	0.44086	T	0.13	-13.649	9.7789	0.40637	0.0:0.083:0.0:0.917	.	103;103;103	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	Q	103	ENSP00000345297:K103Q;ENSP00000302640:K103Q;ENSP00000431539:K103Q;ENSP00000437180:K103Q;ENSP00000390669:K103Q;ENSP00000377231:K103Q;ENSP00000432925:K103Q;ENSP00000435708:K103Q	ENSP00000302640:K103Q	K	-	1	0	UBTF	39648811	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	6.234000	0.72326	0.765000	0.33221	0.460000	0.39030	AAA		PASS	0.478	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		15	62	15	62	---	---	---	---
SGCA	6442	broad.mit.edu	37	17	48244818	48244818	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr17:48244818G>A	ENST00000262018.3	+	2	163	c.127G>A	c.(127-129)Gag>Aag	p.E43K	SGCA_ENST00000543315.1_Missense_Mutation_p.E43K|SGCA_ENST00000513942.1_Intron|SGCA_ENST00000451235.2_5'UTR|SGCA_ENST00000344627.6_Missense_Mutation_p.E43K|RP11-893F2.14_ENST00000572855.1_RNA	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	43					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)	p.E43K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CTTGGACCATGAGACGTTTCT	0.657																																						uc002iqi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(127-129)GAG>AAG		sarcoglycan, alpha isoform 1 precursor							113.0	96.0	102.0					17																	48244818		2203	4300	6503	SO:0001583	missense	6442				muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr17:48244818G>A	L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"""50kD DAG"", ""Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)"", ""adhalin (limb girdle muscular dystrophy 2D)"""	600119	"""sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"""	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	ENST00000262018.3:c.127G>A	17.37:g.48244818G>A	ENSP00000262018:p.Glu43Lys					SGCA_uc010wmh.1_5'UTR|SGCA_uc002iqj.2_Missense_Mutation_p.E43K|SGCA_uc010wmi.1_RNA	p.E43K	NM_000023	NP_000014	Q16586	SGCA_HUMAN			2	163	+			43			Extracellular (Potential).		A6NEB8|A8K3K7|Q13710|Q13712	Missense_Mutation	SNP	ENST00000262018.3	37	c.127G>A	CCDS32679.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511490	0.64522	.	.	ENSG00000108823	ENST00000344627;ENST00000262018;ENST00000543315	D;D;D	0.98493	-4.96;-4.96;-4.96	4.47	3.46	0.39613	Dystroglycan-type cadherin-like (1);Cadherin-like (1);	0.392455	0.24843	N	0.035152	D	0.95918	0.8671	L	0.46157	1.445	0.39736	D	0.971674	P;B	0.38370	0.628;0.001	B;B	0.36922	0.236;0.006	D	0.94464	0.7679	10	0.38643	T	0.18	-2.8836	12.1576	0.54085	0.0:0.1746:0.8253:0.0	.	43;43	Q16586-2;Q16586	.;SGCA_HUMAN	K	43	ENSP00000345522:E43K;ENSP00000262018:E43K;ENSP00000444539:E43K	ENSP00000262018:E43K	E	+	1	0	SGCA	45599817	0.019000	0.18553	0.002000	0.10522	0.446000	0.32137	1.776000	0.38594	0.938000	0.37419	0.407000	0.27541	GAG		PASS	0.657	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366841.1	NM_000023		16	38	16	38	---	---	---	---
USP32	84669	broad.mit.edu	37	17	58260692	58260692	+	Silent	SNP	G	G	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr17:58260692G>C	ENST00000300896.4	-	31	4151	c.3957C>G	c.(3955-3957)ctC>ctG	p.L1319L	USP32_ENST00000592339.1_Silent_p.L989L	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1319	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.L1319L(1)		NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TATGCTGGCAGAGAGCCGGGT	0.493																																						uc002iyo.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|breast(2)|large_intestine(1)	5						c.(3955-3957)CTC>CTG		ubiquitin specific protease 32							78.0	78.0	78.0					17																	58260692		2203	4300	6503	SO:0001819	synonymous_variant	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58260692G>C	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.3957C>G	17.37:g.58260692G>C						USP32_uc002iyn.1_Silent_p.L989L	p.L1319L	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		31	4243	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1319					Q7Z5T3|Q9BX85|Q9Y591	Silent	SNP	ENST00000300896.4	37	c.3957C>G	CCDS32697.1																																																																																				PASS	0.493	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		34	76	34	76	---	---	---	---
PSMC5	5705	broad.mit.edu	37	17	61902623	61902623	+	5'Flank	SNP	C	C	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr17:61902623C>G	ENST00000310144.6	+	0	0				PSMC5_ENST00000375812.4_5'Flank|PSMC5_ENST00000580864.1_5'Flank|FTSJ3_ENST00000580295.1_5'Flank|FTSJ3_ENST00000427159.2_Missense_Mutation_p.E192Q|PSMC5_ENST00000581882.1_5'Flank	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein 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)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.E192Q(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						ACAAAGATCTCTGCAGATTCA	0.493																																						uc002jbz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(574-576)GAG>CAG		FtsJ homolog 3							61.0	63.0	62.0					17																	61902623		2203	4300	6503	SO:0001631	upstream_gene_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61902623C>G	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195			17.37:g.61902623C>G	Exception_encountered					FTSJ3_uc002jca.2_Missense_Mutation_p.E192Q|PSMC5_uc002jcb.2_5'Flank|PSMC5_uc010ddy.2_5'Flank|PSMC5_uc010ddz.2_5'Flank|PSMC5_uc002jcc.2_5'Flank|PSMC5_uc002jcd.2_5'Flank	p.E192Q	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN			6	652	-			192					A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Missense_Mutation	SNP	ENST00000310144.6	37	c.574G>C	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739435	0.89573	.	.	ENSG00000108592	ENST00000427159	T	0.60920	0.15	4.95	4.95	0.65309	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.85682	D	0.000000	D	0.85647	0.5745	H	0.98754	4.32	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.91259	0.5035	10	0.87932	D	0	-30.4608	15.7178	0.77681	0.0:1.0:0.0:0.0	.	192	Q8IY81	RRMJ3_HUMAN	Q	192	ENSP00000396673:E192Q	ENSP00000396673:E192Q	E	-	1	0	FTSJ3	59256355	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.296000	0.78790	2.571000	0.86741	0.563000	0.77884	GAG		PASS	0.493	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805		20	34	20	34	---	---	---	---
PSMC5	5705	broad.mit.edu	37	17	61908527	61908527	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr17:61908527C>G	ENST00000310144.6	+	8	1119	c.811C>G	c.(811-813)Cgc>Ggc	p.R271G	PSMC5_ENST00000375812.4_Missense_Mutation_p.R263G|PSMC5_ENST00000580864.1_Missense_Mutation_p.R263G|FTSJ3_ENST00000580295.1_5'Flank|PSMC5_ENST00000581882.1_Missense_Mutation_p.R263G	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	271	May mediate interaction with PRPF9. {ECO:0000250|UniProtKB:P62196}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein 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)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.R271G(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						TGAAGTGCAGCGCACGATGCT	0.587																																						uc002jcb.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(811-813)CGC>GGC		proteasome 26S ATPase subunit 5							93.0	97.0	96.0					17																	61908527		2203	4300	6503	SO:0001583	missense	5705				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|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|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding	g.chr17:61908527C>G	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.811C>G	17.37:g.61908527C>G	ENSP00000310572:p.Arg271Gly					PSMC5_uc010ddy.2_Missense_Mutation_p.R248G|PSMC5_uc010ddz.2_Missense_Mutation_p.R192G|PSMC5_uc002jcc.2_Missense_Mutation_p.R263G|PSMC5_uc002jcd.2_Missense_Mutation_p.R263G	p.R271G	NM_002805	NP_002796	P62195	PRS8_HUMAN			8	852	+			271					A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Missense_Mutation	SNP	ENST00000310144.6	37	c.811C>G	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892642	0.72524	.	.	ENSG00000087191	ENST00000310144;ENST00000375812	D;D	0.93906	-3.31;-3.31	5.64	5.64	0.86602	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.95439	0.8519	L	0.45698	1.435	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.985;1.0	D	0.95422	0.8508	10	0.87932	D	0	.	17.243	0.87019	0.0:1.0:0.0:0.0	.	263;271	A8K3Z3;P62195	.;PRS8_HUMAN	G	271;263	ENSP00000310572:R271G;ENSP00000364970:R263G	ENSP00000310572:R271G	R	+	1	0	PSMC5	59262259	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.957000	0.63652	2.937000	0.99478	0.650000	0.86243	CGC		PASS	0.587	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805		19	72	19	72	---	---	---	---
BPTF	2186	broad.mit.edu	37	17	65822267	65822267	+	Nonsense_Mutation	SNP	G	G	T	rs369989246		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr17:65822267G>T	ENST00000321892.4	+	1	488	c.427G>T	c.(427-429)Gag>Tag	p.E143*	BPTF_ENST00000335221.5_Nonsense_Mutation_p.E143*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.E4*|BPTF_ENST00000306378.6_Nonsense_Mutation_p.E143*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	143	Glu-rich.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.E143*(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			catggtctccgaggaggagga	0.632																																						uc002jgf.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|skin(2)	4						c.(427-429)GAG>TAG		bromodomain PHD finger transcription factor							47.0	44.0	45.0					17																	65822267		2203	4300	6503	SO:0001587	stop_gained	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65822267G>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.427G>T	17.37:g.65822267G>T	ENSP00000315454:p.Glu143*					BPTF_uc002jge.2_Nonsense_Mutation_p.E143*|BPTF_uc010wqm.1_Nonsense_Mutation_p.E143*	p.E143*	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		1	488	+	all_cancers(12;6e-11)		143			Glu-rich.		Q6NX67|Q7Z7D6|Q9UIG2	Nonsense_Mutation	SNP	ENST00000321892.4	37	c.427G>T		.	.	.	.	.	.	.	.	.	.	G	37	6.105374	0.97286	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	.	.	.	2.5	1.47	0.22746	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	6.8193	0.23849	0.2295:0.0:0.7705:0.0	.	.	.	.	X	48;143;143;143;4	.	ENSP00000307208:E143X	E	+	1	0	BPTF	63252729	1.000000	0.71417	0.426000	0.26672	0.774000	0.43823	7.803000	0.85983	0.388000	0.25054	0.298000	0.19748	GAG		PASS	0.632	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		3	35	3	35	---	---	---	---
WIPI1	55062	broad.mit.edu	37	17	66425064	66425064	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr17:66425064G>A	ENST00000262139.5	-	10	978	c.979C>T	c.(979-981)Cca>Tca	p.P327S	WIPI1_ENST00000546360.1_Missense_Mutation_p.P245S|RP11-120M18.2_ENST00000592030.1_RNA|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	327					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)	p.P327S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						AGCAGCCGTGGCAACTTCTGG	0.493																																						uc010dey.2																			1	Substitution - Missense(1)		lung(1)		0						c.(979-981)CCA>TCA		WD repeat domain, phosphoinositide interacting							82.0	66.0	72.0					17																	66425064		2203	4300	6503	SO:0001583	missense	55062				macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr17:66425064G>A		CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"""WD repeat domain containing"""	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.979C>T	17.37:g.66425064G>A	ENSP00000262139:p.Pro327Ser					WIPI1_uc002jhd.3_RNA|WIPI1_uc010wqo.1_Missense_Mutation_p.P245S|WIPI1_uc002jhe.3_RNA	p.P327S	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN			10	1070	-			327			WD 3.		Q8IXM5|Q9NWF8	Missense_Mutation	SNP	ENST00000262139.5	37	c.979C>T	CCDS11677.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188181	0.78789	.	.	ENSG00000070540	ENST00000262139;ENST00000546360	T;T	0.51071	0.72;2.38	5.33	5.33	0.75918	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.57666	0.2069	M	0.80028	2.48	0.80722	D	1	P	0.38420	0.63	B	0.43155	0.41	T	0.56306	-0.8001	10	0.18710	T	0.47	-14.1684	19.0443	0.93013	0.0:0.0:1.0:0.0	.	327	Q5MNZ9	WIPI1_HUMAN	S	327;245	ENSP00000262139:P327S;ENSP00000437345:P245S	ENSP00000262139:P327S	P	-	1	0	WIPI1	63936659	1.000000	0.71417	0.651000	0.29564	0.258000	0.26162	8.937000	0.92936	2.497000	0.84241	0.557000	0.71058	CCA		PASS	0.493	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983		7	23	7	23	---	---	---	---
ABCA8	10351	broad.mit.edu	37	17	66881394	66881394	+	Silent	SNP	G	G	T	rs577694633		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr17:66881394G>T	ENST00000269080.2	-	25	3509	c.3372C>A	c.(3370-3372)atC>atA	p.I1124I	ABCA8_ENST00000430352.2_Silent_p.I1164I|ABCA8_ENST00000586539.1_Silent_p.I1164I	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1124					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.I1124I(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AAAAAGTGAAGATAAATGGAA	0.373																																						uc002jhp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(3370-3372)ATC>ATA		ATP-binding cassette, sub-family A member 8							92.0	85.0	87.0					17																	66881394		2203	4300	6503	SO:0001819	synonymous_variant	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66881394G>T	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.3372C>A	17.37:g.66881394G>T						ABCA8_uc002jhq.2_Silent_p.I1164I|ABCA8_uc010wqq.1_Silent_p.I1164I	p.I1124I	NM_007168	NP_009099	O94911	ABCA8_HUMAN			25	3551	-	Breast(10;4.56e-13)		1124			Helical; (Potential).		A1L3U3|C9JQE6|Q86WW0	Silent	SNP	ENST00000269080.2	37	c.3372C>A	CCDS11680.1																																																																																				PASS	0.373	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		13	50	13	50	---	---	---	---
SLC16A5	9121	broad.mit.edu	37	17	73096607	73096607	+	Silent	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr17:73096607C>T	ENST00000450736.2	+	4	1264	c.849C>T	c.(847-849)agC>agT	p.S283S	SLC16A5_ENST00000538213.2_Silent_p.S323S|SLC16A5_ENST00000329783.4_Silent_p.S283S|SLC16A5_ENST00000580123.1_Silent_p.S283S			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	283					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.S283S(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TCGGCTTCAGCAACATCTTCC	0.617																																						uc002jmr.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(847-849)AGC>AGT		solute carrier family 16, member 5	Pyruvic acid(DB00119)						463.0	408.0	426.0					17																	73096607		2203	4300	6503	SO:0001819	synonymous_variant	9121				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:73096607C>T	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.849C>T	17.37:g.73096607C>T						SLC16A5_uc002jms.1_Silent_p.S283S|SLC16A5_uc002jmt.2_Silent_p.S283S|SLC16A5_uc002jmu.2_Silent_p.S283S|SLC16A5_uc010wrt.1_Silent_p.S323S	p.S283S	NM_004695	NP_004686	O15375	MOT6_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		5	1221	+	all_lung(278;0.226)		283			Helical; (Potential).		B4E288	Silent	SNP	ENST00000450736.2	37	c.849C>T	CCDS11713.1																																																																																				PASS	0.617	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		84	220	84	220	---	---	---	---
RPTOR	57521	broad.mit.edu	37	17	78921039	78921039	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr17:78921039G>A	ENST00000306801.3	+	27	3515	c.3153G>A	c.(3151-3153)tgG>tgA	p.W1051*	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Nonsense_Mutation_p.W893*	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1051					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.W1051*(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TTTGGGACTGGGAGAAAGGGG	0.502																																						uc002jyt.1																			1	Substitution - Nonsense(1)		lung(1)	lung(4)|urinary_tract(1)|ovary(1)	6						c.(3151-3153)TGG>TGA		raptor isoform 1							66.0	62.0	63.0					17																	78921039		2203	4300	6503	SO:0001587	stop_gained	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78921039G>A		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.3153G>A	17.37:g.78921039G>A	ENSP00000307272:p.Trp1051*					RPTOR_uc010wug.1_Nonsense_Mutation_p.W893*|RPTOR_uc002jyu.1_5'Flank	p.W1051*	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN			27	3958	+			1051			WD 1.		B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Nonsense_Mutation	SNP	ENST00000306801.3	37	c.3153G>A	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	G	43	10.122131	0.99342	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8403	0.92182	0.0:0.0:1.0:0.0	.	.	.	.	X	1051;893	.	ENSP00000307272:W1051X	W	+	3	0	RPTOR	76535634	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.325000	0.96381	2.444000	0.82710	0.655000	0.94253	TGG		PASS	0.502	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		8	24	8	24	---	---	---	---
PIEZO2	63895	broad.mit.edu	37	18	10696076	10696076	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr18:10696076C>T	ENST00000503781.3	-	43	6846	c.6847G>A	c.(6847-6849)Gag>Aag	p.E2283K	PIEZO2_ENST00000580640.1_Missense_Mutation_p.E2308K|PIEZO2_ENST00000302079.6_Missense_Mutation_p.E2283K|PIEZO2_ENST00000538948.1_Missense_Mutation_p.E240K|PIEZO2_ENST00000285141.4_Missense_Mutation_p.E138K	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2283					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)	p.E138K(1)|p.E2283K(1)									CCTTACCTCTCAGTCACACCA	0.502																																						uc002kor.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(718-720)GAG>AAG		family with sequence similarity 38, member B							116.0	108.0	111.0					18																	10696076		2203	4300	6503	SO:0001583	missense	63895					integral to membrane	ion channel activity	g.chr18:10696076C>T	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.6847G>A	18.37:g.10696076C>T	ENSP00000421377:p.Glu2283Lys					FAM38B_uc002koq.2_Missense_Mutation_p.E138K	p.E240K	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN			5	858	-			2283					B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	ENST00000503781.3	37	c.718G>A		.	.	.	.	.	.	.	.	.	.	C	26.9	4.784649	0.90282	.	.	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948;ENST00000285141	D;D;D	0.84223	-1.82;-1.82;-1.82	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000001	T	0.81108	0.4754	L	0.48877	1.53	0.80722	D	1	P	0.35411	0.5	B	0.32980	0.156	T	0.78031	-0.2363	10	0.17369	T	0.5	.	19.2082	0.93744	0.0:1.0:0.0:0.0	.	240	D6RFZ0	.	K	240;2283;240;138	ENSP00000303316:E2283K;ENSP00000443129:E240K;ENSP00000285141:E138K	ENSP00000285141:E138K	E	-	1	0	FAM38B	10686076	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.411000	0.80078	2.543000	0.85770	0.561000	0.74099	GAG		PASS	0.502	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		25	62	25	62	---	---	---	---
KHSRP	8570	broad.mit.edu	37	19	6422370	6422370	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr19:6422370C>A	ENST00000398148.3	-	2	419	c.327G>T	c.(325-327)aaG>aaT	p.K109N		NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	109	Gly-rich.				gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.K109N(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						CCAACTGTCTCTTTTGGCCCC	0.488																																					Colon(55;593 1006 2067 9135 22980)	uc002mer.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(325-327)AAG>AAT		KH-type splicing regulatory protein							128.0	131.0	130.0					19																	6422370		1909	4112	6021	SO:0001583	missense	8570				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding	g.chr19:6422370C>A	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.327G>T	19.37:g.6422370C>A	ENSP00000381216:p.Lys109Asn						p.K109N	NM_003685	NP_003676	Q92945	FUBP2_HUMAN			2	437	-			109			Gly-rich.		O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Missense_Mutation	SNP	ENST00000398148.3	37	c.327G>T	CCDS45936.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.836149	0.50951	.	.	ENSG00000088247	ENST00000398148;ENST00000201886;ENST00000424942	T	0.53857	0.6	4.81	4.81	0.61882	.	0.108807	0.64402	D	0.000007	T	0.60508	0.2274	M	0.71036	2.16	0.45979	D	0.998793	P	0.51653	0.947	P	0.51701	0.677	T	0.64664	-0.6354	10	0.59425	D	0.04	.	10.3588	0.43980	0.0:0.9077:0.0:0.0923	.	109	Q92945	FUBP2_HUMAN	N	109;109;65	ENSP00000381216:K109N	ENSP00000201886:K109N	K	-	3	2	KHSRP	6373370	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.648000	0.24828	2.205000	0.71048	0.655000	0.94253	AAG		PASS	0.488	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1			19	75	19	75	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9068085	9068085	+	Missense_Mutation	SNP	G	G	T	rs201728641		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr19:9068085G>T	ENST00000397910.4	-	3	19564	c.19361C>A	c.(19360-19362)gCg>gAg	p.A6454E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6456	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.A6454V(2)|p.A6454E(2)|p.A2087V(1)|p.A2087E(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTGATGTCGCCCTATGAGG	0.498																																						uc002mkp.2																			6	Substitution - Missense(6)		lung(3)|kidney(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(19360-19362)GCG>GAG		mucin 16							281.0	274.0	277.0					19																	9068085		2015	4184	6199	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9068085G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19361C>A	19.37:g.9068085G>T	ENSP00000381008:p.Ala6454Glu						p.A6454E	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	19565	-			6456			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.19361C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.906	0.168324	0.09339	.	.	ENSG00000181143	ENST00000397910	T	0.02787	4.16	2.15	-0.287	0.12858	.	.	.	.	.	T	0.06005	0.0156	L	0.48642	1.525	.	.	.	D	0.71674	0.998	P	0.59424	0.857	T	0.33163	-0.9879	8	0.87932	D	0	.	2.954	0.05870	0.1898:0.2991:0.5111:0.0	.	6454	B5ME49	.	E	6454	ENSP00000381008:A6454E	ENSP00000381008:A6454E	A	-	2	0	MUC16	8929085	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.023000	0.12456	0.010000	0.14839	0.177000	0.17058	GCG		PASS	0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		25	128	25	128	---	---	---	---
ZNF560	147741	broad.mit.edu	37	19	9578918	9578918	+	Silent	SNP	A	A	T	rs372363439		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr19:9578918A>T	ENST00000301480.4	-	10	918	c.705T>A	c.(703-705)acT>acA	p.T235T		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	235					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.T235T(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CTCTATTTTGAGTACTCATGT	0.378																																						uc002mlp.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						c.(703-705)ACT>ACA		zinc finger protein 560							119.0	99.0	106.0					19																	9578918		2203	4300	6503	SO:0001819	synonymous_variant	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9578918A>T	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.705T>A	19.37:g.9578918A>T						ZNF560_uc010dwr.1_Silent_p.T129T	p.T235T	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN			10	915	-			235					Q495S9|Q495T1	Silent	SNP	ENST00000301480.4	37	c.705T>A	CCDS12214.1																																																																																				PASS	0.378	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		13	53	13	53	---	---	---	---
CCDC151	115948	broad.mit.edu	37	19	11545644	11545644	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr19:11545644G>T	ENST00000356392.4	-	1	281	c.194C>A	c.(193-195)cCc>cAc	p.P65H	CCDC151_ENST00000591179.1_Missense_Mutation_p.P65H|PRKCSH_ENST00000591462.1_5'Flank|PRKCSH_ENST00000412601.1_5'Flank|CCDC151_ENST00000586836.1_Intron|PRKCSH_ENST00000592741.1_5'Flank|CCDC151_ENST00000545100.1_Intron|PRKCSH_ENST00000589838.1_5'Flank|PRKCSH_ENST00000252455.2_5'Flank|PRKCSH_ENST00000587327.1_5'Flank	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	65								p.P65H(1)		endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						GTGCACAGAGGGCTTCCCTGC	0.587											OREG0025257	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mrs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(193-195)CCC>CAC		coiled-coil domain containing 151							99.0	104.0	102.0					19																	11545644		1953	4151	6104	SO:0001583	missense	115948							g.chr19:11545644G>T		CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.194C>A	19.37:g.11545644G>T	ENSP00000348757:p.Pro65His		OREG0025257	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	673	CCDC151_uc010dxz.2_Missense_Mutation_p.P65H|PRKCSH_uc002mrt.2_5'Flank|PRKCSH_uc002mru.2_5'Flank|PRKCSH_uc010xlz.1_5'Flank|PRKCSH_uc010dya.2_5'Flank|PRKCSH_uc002mrv.1_5'Flank|PRKCSH_uc010dyb.2_5'Flank	p.P65H	NM_145045	NP_659482	A5D8V7	CC151_HUMAN			1	337	-			65					B4DXT0|Q96CG5	Missense_Mutation	SNP	ENST00000356392.4	37	c.194C>A	CCDS42501.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294916	0.60086	.	.	ENSG00000198003	ENST00000356392;ENST00000543934	T	0.12147	2.71	4.54	3.5	0.40072	.	0.687460	0.13223	N	0.404261	T	0.20129	0.0484	L	0.43152	1.355	0.28633	N	0.907553	D;D	0.61697	0.99;0.99	P;P	0.53313	0.723;0.723	T	0.04115	-1.0976	10	0.45353	T	0.12	-0.4804	10.3292	0.43812	0.0962:0.0:0.9038:0.0	.	65;65	B3KPH7;A5D8V7	.;CC151_HUMAN	H	65;44	ENSP00000348757:P65H	ENSP00000348757:P65H	P	-	2	0	CCDC151	11406644	0.008000	0.16893	0.001000	0.08648	0.027000	0.11550	1.588000	0.36633	1.207000	0.43291	0.655000	0.94253	CCC		PASS	0.587	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1	NM_145045		8	79	8	79	---	---	---	---
HOOK2	29911	broad.mit.edu	37	19	12876760	12876760	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr19:12876760T>A	ENST00000397668.3	-	16	1653	c.1580A>T	c.(1579-1581)cAg>cTg	p.Q527L	HOOK2_ENST00000264827.5_Missense_Mutation_p.Q527L|HOOK2_ENST00000589965.1_Intron	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	527	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)	p.Q527L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CTTGCCCCCCTGCTCCTGCAG	0.652											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002muy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(1579-1581)CAG>CTG		hook homolog 2 isoform 1							75.0	84.0	81.0					19																	12876760		2013	4171	6184	SO:0001583	missense	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12876760T>A	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1580A>T	19.37:g.12876760T>A	ENSP00000380785:p.Gln527Leu		OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	683	HOOK2_uc010xmq.1_5'UTR|HOOK2_uc002muz.2_Missense_Mutation_p.Q527L	p.Q527L	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN			16	1751	-			527			Sufficient for interaction with microtubules.|Potential.		O60562	Missense_Mutation	SNP	ENST00000397668.3	37	c.1580A>T	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.359625	0.82353	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.23147	1.92;1.92	5.14	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.50309	0.1608	M	0.81802	2.56	0.52501	D	0.999954	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.48747	-0.9008	10	0.44086	T	0.13	-36.4936	11.2385	0.48955	0.0:0.0:0.154:0.846	.	527;527	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	L	527	ENSP00000380785:Q527L;ENSP00000264827:Q527L	ENSP00000264827:Q527L	Q	-	2	0	HOOK2	12737760	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.294000	0.51787	0.770000	0.33336	0.383000	0.25322	CAG		PASS	0.652	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		9	34	9	34	---	---	---	---
CACNA1A	773	broad.mit.edu	37	19	13476130	13476130	+	Splice_Site	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr19:13476130C>T	ENST00000360228.5	-	5	784		c.e5+1		CACNA1A_ENST00000573710.2_Splice_Site	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit						adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.?(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CGTGGACCTACCTGTCCCCTC	0.463																																						uc010dze.2																			3	Unknown(3)		lung(3)	large_intestine(2)	2						c.e5+1		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						97.0	98.0	98.0					19																	13476130		1909	4122	6031	SO:0001630	splice_region_variant	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13476130C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.784+1G>A	19.37:g.13476130C>T						CACNA1A_uc002mwy.3_Splice_Site_p.D262_splice	p.D262_splice	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		5	1020	-								J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Splice_Site	SNP	ENST00000360228.5	37	c.784_splice	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624859	0.87560	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2896	0.90124	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CACNA1A	13337130	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.366000	0.79548	2.603000	0.88011	0.655000	0.94253	.		PASS	0.463	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	Intron	22	86	22	86	---	---	---	---
ZNF14	7561	broad.mit.edu	37	19	19823724	19823724	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr19:19823724C>G	ENST00000344099.3	-	4	504	c.366G>C	c.(364-366)atG>atC	p.M122I		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	122					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.M122I(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TGTGAGATCTCATGTGCCTAT	0.383																																						uc002nnk.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(364-366)ATG>ATC		zinc finger protein 14							203.0	177.0	186.0					19																	19823724		2203	4300	6503	SO:0001583	missense	7561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19823724C>G	AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.366G>C	19.37:g.19823724C>G	ENSP00000340514:p.Met122Ile						p.M122I	NM_021030	NP_066358	P17017	ZNF14_HUMAN			4	520	-		Renal(1328;0.0474)	122			C2H2-type 1.		B9EGA4|Q9ULZ5	Missense_Mutation	SNP	ENST00000344099.3	37	c.366G>C	CCDS12409.1	.	.	.	.	.	.	.	.	.	.	C	6.235	0.411439	0.11812	.	.	ENSG00000105708	ENST00000344099	T	0.49432	0.78	1.24	1.24	0.21308	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25269	0.0614	N	0.12443	0.215	0.23607	N	0.997307	B	0.15930	0.015	B	0.12156	0.007	T	0.16512	-1.0400	9	0.45353	T	0.12	.	3.5819	0.07957	0.0:0.7268:0.0:0.2732	.	122	P17017	ZNF14_HUMAN	I	122	ENSP00000340514:M122I	ENSP00000340514:M122I	M	-	3	0	ZNF14	19684724	0.000000	0.05858	0.015000	0.15790	0.254000	0.26022	-0.092000	0.11129	0.626000	0.30322	0.460000	0.39030	ATG		PASS	0.383	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030		13	82	13	82	---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22157371	22157371	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr19:22157371A>T	ENST00000397126.4	-	4	613	c.465T>A	c.(463-465)caT>caA	p.H155Q	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	155					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.H155Q(3)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGAACATTTATGAAAGACAT	0.333																																						uc002nqp.2																			3	Substitution - Missense(3)		lung(3)	ovary(5)|skin(2)	7						c.(463-465)CAT>CAA		zinc finger protein 208							123.0	118.0	120.0					19																	22157371		2020	4215	6235	SO:0001583	missense	7757							g.chr19:22157371A>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.465T>A	19.37:g.22157371A>T	ENSP00000380315:p.His155Gln					ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	p.H155Q	NM_007153	NP_009084					4	614	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.465T>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	5.838	0.338882	0.11069	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.14766	2.48	1.55	0.00201	0.14048	.	.	.	.	.	T	0.18841	0.0452	.	.	.	0.09310	N	1	D	0.76494	0.999	D	0.64144	0.922	T	0.21143	-1.0254	8	0.18276	T	0.48	.	4.3556	0.11176	0.7505:0.0:0.2495:0.0	.	155	O43345	ZN208_HUMAN	Q	155	ENSP00000380315:H155Q	ENSP00000380315:H155Q	H	-	3	2	ZNF208	21949211	0.000000	0.05858	0.000000	0.03702	0.353000	0.29299	-1.097000	0.03349	-0.173000	0.10761	0.240000	0.17902	CAT		PASS	0.333	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		11	62	11	62	---	---	---	---
ZNF681	148213	broad.mit.edu	37	19	23927115	23927115	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr19:23927115T>C	ENST00000402377.3	-	4	1378	c.1237A>G	c.(1237-1239)Aag>Gag	p.K413E	ZNF681_ENST00000395385.3_Missense_Mutation_p.K344E	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	413					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.K344E(1)|p.K413E(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TGAATGCTCTTATGTCTAGTA	0.368																																						uc002nrk.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1237-1239)AAG>GAG		zinc finger protein 681							66.0	71.0	69.0					19																	23927115		2203	4300	6503	SO:0001583	missense	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23927115T>C	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1237A>G	19.37:g.23927115T>C	ENSP00000384000:p.Lys413Glu					ZNF681_uc002nrl.3_Missense_Mutation_p.K344E|ZNF681_uc002nrj.3_Missense_Mutation_p.K344E	p.K413E	NM_138286	NP_612143	Q96N22	ZN681_HUMAN			4	1379	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	413			C2H2-type 9.		B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	c.1237A>G	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	11.88	1.771828	0.31320	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.07567	3.18;3.18	1.51	-3.01	0.05463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07683	0.0193	N	0.12831	0.26	0.20873	N	0.99984	D	0.55172	0.97	P	0.56563	0.801	T	0.22103	-1.0226	9	0.54805	T	0.06	.	4.7646	0.13127	0.0:0.2081:0.5582:0.2337	.	413	Q96N22	ZN681_HUMAN	E	413;344	ENSP00000384000:K413E;ENSP00000378783:K344E	ENSP00000378783:K344E	K	-	1	0	ZNF681	23718955	0.014000	0.17966	0.010000	0.14722	0.022000	0.10575	-0.110000	0.10824	-0.851000	0.04147	0.260000	0.18958	AAG		PASS	0.368	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		20	50	20	50	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	31039116	31039116	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr19:31039116C>A	ENST00000355537.3	+	4	2737	c.2590C>A	c.(2590-2592)Ctc>Atc	p.L864I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	864					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.L864I(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ATCAGGGGTTCTCTCCTCTGG	0.582																																						uc002nsu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(2590-2592)CTC>ATC		zinc finger protein 536							65.0	69.0	68.0					19																	31039116		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039116C>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2590C>A	19.37:g.31039116C>A	ENSP00000347730:p.Leu864Ile					ZNF536_uc010edd.1_Missense_Mutation_p.L864I	p.L864I	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	2728	+	Esophageal squamous(110;0.0834)		864					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2590C>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	3.297	-0.143723	0.06627	.	.	ENSG00000198597	ENST00000355537	T	0.10668	2.85	5.71	2.37	0.29283	.	0.136313	0.48767	N	0.000166	T	0.08044	0.0201	L	0.34521	1.04	0.39076	D	0.960818	B;B	0.15930	0.015;0.015	B;B	0.15052	0.012;0.012	T	0.25950	-1.0117	10	0.30078	T	0.28	-18.2277	8.9007	0.35493	0.1221:0.748:0.0:0.1299	.	864;864	A7E228;O15090	.;ZN536_HUMAN	I	864	ENSP00000347730:L864I	ENSP00000347730:L864I	L	+	1	0	ZNF536	35730956	1.000000	0.71417	0.157000	0.22605	0.074000	0.17049	1.374000	0.34283	0.340000	0.23745	-0.233000	0.12211	CTC		PASS	0.582	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		5	83	5	83	---	---	---	---
ZNF790	388536	broad.mit.edu	37	19	37310031	37310031	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr19:37310031C>G	ENST00000356725.4	-	5	1335	c.1215G>C	c.(1213-1215)tgG>tgC	p.W405C	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	405					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.W405C(1)		biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGTGTGAGCTCCAAATATAGG	0.413																																						uc002oew.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|skin(1)	2						c.(1213-1215)TGG>TGC		zinc finger protein 790							83.0	83.0	83.0					19																	37310031		2203	4299	6502	SO:0001583	missense	388536				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37310031C>G	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1215G>C	19.37:g.37310031C>G	ENSP00000349161:p.Trp405Cys					uc002oev.1_Intron	p.W405C	NM_206894	NP_996777	Q6PG37	ZN790_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	1334	-	Esophageal squamous(110;0.183)		405			C2H2-type 8.			Missense_Mutation	SNP	ENST00000356725.4	37	c.1215G>C	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	C	8.589	0.884179	0.17467	.	.	ENSG00000197863	ENST00000356725	T	0.07444	3.19	3.14	-0.667	0.11395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05777	0.0151	N	0.17082	0.46	0.09310	N	1	D	0.53462	0.96	P	0.46076	0.503	T	0.39035	-0.9633	9	0.35671	T	0.21	.	6.191	0.20524	0.432:0.2578:0.3101:0.0	.	405	Q6PG37	ZN790_HUMAN	C	405	ENSP00000349161:W405C	ENSP00000349161:W405C	W	-	3	0	ZNF790	42001871	0.000000	0.05858	0.004000	0.12327	0.978000	0.69477	-2.069000	0.01381	-0.144000	0.11314	0.491000	0.48974	TGG		PASS	0.413	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894		11	69	11	69	---	---	---	---
TMEM145	284339	broad.mit.edu	37	19	42818838	42818838	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr19:42818838G>T	ENST00000301204.3	+	4	388	c.347G>T	c.(346-348)tGg>tTg	p.W116L	TMEM145_ENST00000598766.1_Missense_Mutation_p.W126L|TMEM145_ENST00000601020.1_3'UTR	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	116					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)		p.W116L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CAGTATGCCTGGTCCGGCTGT	0.617																																						uc002otk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(346-348)TGG>TTG		transmembrane protein 145							89.0	89.0	89.0					19																	42818838		2203	4300	6503	SO:0001583	missense	284339					integral to membrane		g.chr19:42818838G>T	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.347G>T	19.37:g.42818838G>T	ENSP00000301204:p.Trp116Leu						p.W116L	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN			4	399	+		Prostate(69;0.00682)	116						Missense_Mutation	SNP	ENST00000301204.3	37	c.347G>T	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681660	0.47991	.	.	ENSG00000167619	ENST00000301204	T	0.44881	0.91	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.50990	0.1648	L	0.48642	1.525	0.58432	D	0.999998	D	0.76494	0.999	P	0.61275	0.886	T	0.35549	-0.9784	10	0.10902	T	0.67	-14.6249	15.9473	0.79803	0.0:0.0:1.0:0.0	.	116	Q8NBT3	TM145_HUMAN	L	116	ENSP00000301204:W116L	ENSP00000301204:W116L	W	+	2	0	TMEM145	47510678	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	7.904000	0.87408	2.460000	0.83146	0.557000	0.71058	TGG		PASS	0.617	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		9	76	9	76	---	---	---	---
PSG1	5669	broad.mit.edu	37	19	43382240	43382240	+	Missense_Mutation	SNP	G	G	T	rs1058959		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr19:43382240G>T	ENST00000436291.2	-	2	371	c.255C>A	c.(253-255)gaC>gaA	p.D85E	PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000312439.6_Missense_Mutation_p.D85E|PSG1_ENST00000244296.2_Missense_Mutation_p.D85E|PSG1_ENST00000595124.1_Missense_Mutation_p.D85E|PSG1_ENST00000595356.1_Missense_Mutation_p.D85E|PSG1_ENST00000403380.3_Missense_Mutation_p.D85E	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	85	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.D85E(2)		breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TTATTTCACCGTCTACTACAT	0.448																																						uc002ovb.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(253-255)GAC>GAA		pregnancy specific beta-1-glycoprotein 1							257.0	250.0	253.0					19																	43382240		2202	4299	6501	SO:0001583	missense	5669				female pregnancy	extracellular region		g.chr19:43382240G>T		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.255C>A	19.37:g.43382240G>T	ENSP00000413041:p.Asp85Glu					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.D85E|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.D85E|PSG1_uc010eio.1_Missense_Mutation_p.D85E|PSG1_uc002oux.1_Missense_Mutation_p.D14E|PSG1_uc002ouy.1_Missense_Mutation_p.D85E|PSG1_uc002ouz.1_Missense_Mutation_p.D85E|PSG1_uc002ova.1_Missense_Mutation_p.D85E|PSG1_uc002ovc.2_Missense_Mutation_p.D85E|PSG1_uc002ovd.1_Missense_Mutation_p.D85E	p.D85E	NM_006905	NP_008836	P11464	PSG1_HUMAN			2	393	-		Prostate(69;0.00682)	85			Ig-like V-type.		O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	ENST00000436291.2	37	c.255C>A	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	6.308	0.424943	0.11987	.	.	ENSG00000231924	ENST00000270059;ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	1.64	0.481	0.16809	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70509	0.3232	M	0.74546	2.27	0.09310	N	1	D;B;P;P;P;B;B;P;B	0.61080	0.989;0.421;0.944;0.841;0.875;0.137;0.131;0.896;0.134	P;B;P;P;B;B;B;P;B	0.61658	0.892;0.246;0.511;0.624;0.313;0.075;0.261;0.542;0.168	T	0.57464	-0.7807	9	0.52906	T	0.07	.	4.9874	0.14196	0.0:0.0:0.6464:0.3536	.	85;85;85;85;85;85;85;85;85	O75238;P11464-4;G5E9F7;P11464;Q8NBY8;P11464-3;Q9UPK8;O75237;P11464-2	.;.;.;PSG1_HUMAN;.;.;.;.;.	E	85	ENSP00000413041:D85E;ENSP00000385386:D85E;ENSP00000308970:D85E;ENSP00000244296:D85E	ENSP00000244296:D85E	D	-	3	2	PSG1	48074080	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.008000	0.03663	0.239000	0.21243	0.184000	0.17185	GAC		PASS	0.448	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			53	186	53	186	---	---	---	---
PSG6	5675	broad.mit.edu	37	19	43414888	43414888	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr19:43414888G>C	ENST00000292125.2	-	3	594	c.550C>G	c.(550-552)Cag>Gag	p.Q184E	PSG6_ENST00000402603.4_Missense_Mutation_p.Q184E|PSG6_ENST00000187910.2_Missense_Mutation_p.Q184E	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	184	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.Q184E(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GGGAGGTTCTGACCATTCAGC	0.498																																						uc002ovj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(550-552)CAG>GAG		pregnancy specific beta-1-glycoprotein 6 isoform							222.0	222.0	222.0					19																	43414888		2201	4299	6500	SO:0001583	missense	5675				female pregnancy	extracellular region		g.chr19:43414888G>C		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.550C>G	19.37:g.43414888G>C	ENSP00000292125:p.Gln184Glu					PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Missense_Mutation_p.Q191E|PSG6_uc002ovi.2_Missense_Mutation_p.Q185E|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG6_uc002ove.1_5'UTR|PSG6_uc002ovf.1_Missense_Mutation_p.Q184E|PSG6_uc002ovg.1_Missense_Mutation_p.Q184E	p.Q184E	NM_002782	NP_002773	Q00889	PSG6_HUMAN			3	602	-		Prostate(69;0.00899)	184			Ig-like C2-type 1.		O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	c.550C>G	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	5.054	0.195572	0.09599	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125;ENST00000402456	T;T;T	0.11495	2.77;2.77;2.77	1.64	0.483	0.16820	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.15739	0.0379	L	0.43598	1.365	0.09310	N	1	P;P;P	0.42337	0.776;0.686;0.729	B;B;P	0.55713	0.314;0.396;0.782	T	0.20773	-1.0265	9	0.36615	T	0.2	.	4.1427	0.10201	0.2412:0.0:0.7588:0.0	.	184;184;184	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	E	184	ENSP00000187910:Q184E;ENSP00000385736:Q184E;ENSP00000292125:Q184E	ENSP00000187910:Q184E	Q	-	1	0	PSG6	48106728	0.000000	0.05858	0.004000	0.12327	0.006000	0.05464	-0.095000	0.11077	0.026000	0.15269	0.194000	0.17425	CAG		PASS	0.498	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		49	156	49	156	---	---	---	---
PSG4	5672	broad.mit.edu	37	19	43699169	43699169	+	Silent	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr19:43699169G>A	ENST00000405312.3	-	4	1203	c.966C>T	c.(964-966)gaC>gaT	p.D322D	PSG4_ENST00000433626.2_Silent_p.D229D|PSG4_ENST00000244295.9_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	322	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)		p.D322D(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGGTGACTGGGTCACTGCGGA	0.488																																						uc002ovy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(964-966)GAC>GAT		pregnancy specific beta-1-glycoprotein 4 isoform							118.0	109.0	112.0					19																	43699169		2201	4293	6494	SO:0001819	synonymous_variant	5672				defense response|female pregnancy	extracellular region		g.chr19:43699169G>A		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.966C>T	19.37:g.43699169G>A						PSG6_uc010xwk.1_Intron|PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Silent_p.D229D|PSG4_uc002ovz.2_Intron	p.D322D	NM_002780	NP_002771	Q00888	PSG4_HUMAN			4	1068	-		Prostate(69;0.00682)	322			Ig-like C2-type 2.		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Silent	SNP	ENST00000405312.3	37	c.966C>T	CCDS46093.1																																																																																				PASS	0.488	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		36	123	36	123	---	---	---	---
TEX101	83639	broad.mit.edu	37	19	43922108	43922108	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr19:43922108G>T	ENST00000598265.1	+	5	636	c.470G>T	c.(469-471)tGt>tTt	p.C157F	TEX101_ENST00000253435.7_Missense_Mutation_p.C175F|TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000602198.1_Missense_Mutation_p.C175F	NM_001130011.1	NP_001123483.1	Q9BY14	TX101_HUMAN	testis expressed 101	157	UPAR/Ly6.			C -> Y (in Ref. 1; AAK28327). {ECO:0000305}.		acrosomal membrane (GO:0002080)|anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.C175F(1)		large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				TCTCTTCCCTGTCCCAATGGT	0.463																																						uc010xwo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(469-471)TGT>TTT		testis expressed 101 isoform 2							260.0	215.0	230.0					19																	43922108		2203	4300	6503	SO:0001583	missense	83639					anchored to membrane|plasma membrane		g.chr19:43922108G>T	AF241268	CCDS12619.1, CCDS59393.1	19q13.31	2013-06-06	2007-03-13			ENSG00000131126			30722	protein-coding gene	gene with protein product	"""cancer/testis antigen 131"", ""spermatogenesis associated 44"""	612665	"""testis expressed sequence 101"""			16388701, 16516155	Standard	NM_031451		Approved	MGC4766, SGRG, CT131, SPATA44	uc010xwo.2	Q9BY14		ENST00000598265.1:c.470G>T	19.37:g.43922108G>T	ENSP00000472769:p.Cys157Phe					TEX101_uc002owk.2_Missense_Mutation_p.C175F	p.C157F	NM_001130011	NP_001123483	Q9BY14	TX101_HUMAN			5	665	+		Prostate(69;0.0199)	157	C -> Y (in Ref. 1; AAK28327).				Q7L5R2|Q9BPY7	Missense_Mutation	SNP	ENST00000598265.1	37	c.470G>T	CCDS59393.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199536	0.38806	.	.	ENSG00000131126	ENST00000253435;ENST00000407156	D	0.91945	-2.94	3.61	3.61	0.41365	CD59 antigen (1);	0.000000	0.56097	D	0.000032	D	0.95822	0.8640	M	0.86953	2.85	0.39015	D	0.959621	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96290	0.9213	10	0.87932	D	0	-13.1679	11.0684	0.47989	0.0:0.0:1.0:0.0	.	157;175	Q9BY14;Q9BY14-2	TX101_HUMAN;.	F	175;170	ENSP00000253435:C175F	ENSP00000253435:C175F	C	+	2	0	TEX101	48613948	0.924000	0.31332	0.995000	0.50966	0.405000	0.30901	3.083000	0.50136	2.304000	0.77564	0.563000	0.77884	TGT		PASS	0.463	TEX101-004	KNOWN	non_canonical_other|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000463176.1	NM_031451		20	85	20	85	---	---	---	---
MARK4	57787	broad.mit.edu	37	19	45781203	45781203	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr19:45781203G>C	ENST00000262891.4	+	9	1140	c.809G>C	c.(808-810)aGa>aCa	p.R270T	MARK4_ENST00000300843.4_Missense_Mutation_p.R270T	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	270	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)	p.R270T(2)		NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CGAGTACTCAGAGGGAAGTAC	0.572																																						uc002pbb.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|large_intestine(1)	3						c.(808-810)AGA>ACA		RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;							90.0	93.0	92.0					19																	45781203		2203	4300	6503	SO:0001583	missense	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45781203G>C	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.809G>C	19.37:g.45781203G>C	ENSP00000262891:p.Arg270Thr					MARK4_uc002paz.1_Intron|MARK4_uc002pba.1_Missense_Mutation_p.R270T|MARK4_uc002pbc.1_Missense_Mutation_p.R136T	p.R270T			Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	9	814	+		all_neural(266;0.224)|Ovarian(192;0.231)	270			Protein kinase.		Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	ENST00000262891.4	37	c.809G>C	CCDS56097.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146550	0.77888	.	.	ENSG00000007047	ENST00000262893;ENST00000262891;ENST00000300843	T;T	0.65549	-0.16;-0.16	4.38	3.32	0.38043	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.62134	0.2403	N	0.11845	0.185	0.58432	D	0.999997	P;D;D	0.89917	0.914;1.0;1.0	P;D;D	0.87578	0.789;0.998;0.994	T	0.68085	-0.5502	10	0.87932	D	0	.	12.2374	0.54524	0.0:0.1735:0.8265:0.0	.	136;270;270	Q8N2N5;Q96L34;Q96L34-2	.;MARK4_HUMAN;.	T	300;270;270	ENSP00000262891:R270T;ENSP00000300843:R270T	ENSP00000262891:R270T	R	+	2	0	MARK4	50473043	1.000000	0.71417	0.716000	0.30569	0.908000	0.53690	9.501000	0.97979	1.191000	0.43056	0.462000	0.41574	AGA		PASS	0.572	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		4	35	4	35	---	---	---	---
IGFL3	388555	broad.mit.edu	37	19	46627176	46627176	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr19:46627176C>T	ENST00000341415.2	-	3	341	c.317G>A	c.(316-318)tGt>tAt	p.C106Y	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	106						extracellular region (GO:0005576)		p.C106Y(1)		endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		AGATAAGTGACACTGAGACTT	0.517																																						uc002pea.1																			1	Substitution - Missense(1)		lung(1)		0						c.(316-318)TGT>TAT		IGF-like family member 3 precursor							142.0	168.0	159.0					19																	46627176		2189	4300	6489	SO:0001583	missense	388555					extracellular region	protein binding	g.chr19:46627176C>T	AY358434	CCDS33058.1	19q13.32	2006-07-14				ENSG00000188624			32930	protein-coding gene	gene with protein product		610546				14702039	Standard	NM_207393		Approved	UNQ483	uc002pea.1	Q6UXB1		ENST00000341415.2:c.317G>A	19.37:g.46627176C>T	ENSP00000344860:p.Cys106Tyr						p.C106Y	NM_207393	NP_997276	Q6UXB1	IGFL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)	3	342	-		Ovarian(192;0.0175)|all_neural(266;0.0476)	106						Missense_Mutation	SNP	ENST00000341415.2	37	c.317G>A	CCDS33058.1	.	.	.	.	.	.	.	.	.	.	C	9.896	1.205464	0.22205	.	.	ENSG00000188624	ENST00000341415	T	0.27402	1.67	1.43	0.337	0.15966	.	.	.	.	.	T	0.46190	0.1380	M	0.67397	2.05	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.25433	-1.0132	9	0.87932	D	0	-28.5734	3.7274	0.08480	0.0:0.7452:0.0:0.2548	.	106	Q6UXB1	IGFL3_HUMAN	Y	106	ENSP00000344860:C106Y	ENSP00000344860:C106Y	C	-	2	0	IGFL3	51319016	0.008000	0.16893	0.001000	0.08648	0.019000	0.09904	1.442000	0.35046	0.155000	0.19261	0.411000	0.27672	TGT		PASS	0.517	IGFL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421323.1	NM_207393		73	196	73	196	---	---	---	---
HIF3A	64344	broad.mit.edu	37	19	46811522	46811522	+	Nonsense_Mutation	SNP	T	T	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr19:46811522T>A	ENST00000377670.4	+	4	439	c.408T>A	c.(406-408)tgT>tgA	p.C136*	HIF3A_ENST00000244303.6_Nonsense_Mutation_p.C67*|RNU6-924P_ENST00000362926.1_RNA|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000600383.1_Nonsense_Mutation_p.C67*|HIF3A_ENST00000420102.2_Nonsense_Mutation_p.C85*|HIF3A_ENST00000300862.3_Nonsense_Mutation_p.C134*|HIF3A_ENST00000339613.2_Nonsense_Mutation_p.C80*|HIF3A_ENST00000472815.1_Nonsense_Mutation_p.C67*	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	136	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.C134*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		TCCACCCCTGTGACCAAGAGG	0.602																																						uc002peh.2																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(406-408)TGT>TGA		hypoxia inducible factor 3, alpha subunit							150.0	136.0	140.0					19																	46811522		2203	4300	6503	SO:0001587	stop_gained	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46811522T>A	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.408T>A	19.37:g.46811522T>A	ENSP00000366898:p.Cys136*					HIF3A_uc002pef.1_Nonsense_Mutation_p.C136*|HIF3A_uc002peg.3_Nonsense_Mutation_p.C136*|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Nonsense_Mutation_p.C80*|HIF3A_uc002pej.1_Nonsense_Mutation_p.C67*|HIF3A_uc002pek.2_Nonsense_Mutation_p.C80*|HIF3A_uc010xxy.1_Nonsense_Mutation_p.C67*|HIF3A_uc002pel.2_Nonsense_Mutation_p.C134*|HIF3A_uc010xxz.1_Nonsense_Mutation_p.C85*	p.C136*	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	4	437	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	136			PAS 1.		B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Nonsense_Mutation	SNP	ENST00000377670.4	37	c.408T>A	CCDS12681.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.5|22.5	4.295382|4.295382	0.81025|0.81025	.|.	.|.	ENSG00000124440|ENSG00000124440	ENST00000475432;ENST00000244302;ENST00000377670;ENST00000414707;ENST00000244303;ENST00000339613;ENST00000533145;ENST00000457771;ENST00000291300;ENST00000300862;ENST00000420102|ENST00000472815	.|.	.|.	.|.	3.86|3.86	-0.624|-0.624	0.11552|0.11552	.|.	0.175329|.	0.28016|.	N|.	0.016924|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.02654|.	T|.	1|.	.|.	8.5041|8.5041	0.33177|0.33177	0.0:0.5124:0.0:0.4876|0.0:0.5124:0.0:0.4876	.|.	.|.	.|.	.|.	X|R	136;136;136;136;67;80;128;67;80;134;85|109	.|.	ENSP00000244302:C136X|.	C|X	+|+	3|1	2|0	HIF3A|HIF3A	51503362|51503362	0.770000|0.770000	0.28543|0.28543	0.996000|0.996000	0.52242|0.52242	0.997000|0.997000	0.91878|0.91878	-0.199000|-0.199000	0.09491|0.09491	-0.311000|-0.311000	0.08754|0.08754	0.459000|0.459000	0.35465|0.35465	TGT|TGA		PASS	0.602	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			26	76	26	76	---	---	---	---
TEAD2	8463	broad.mit.edu	37	19	49846557	49846557	+	Silent	SNP	C	C	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr19:49846557C>G	ENST00000311227.2	-	10	1098	c.1008G>C	c.(1006-1008)ctG>ctC	p.L336L	TEAD2_ENST00000601519.1_Silent_p.L339L|TEAD2_ENST00000593945.1_Silent_p.L340L|CTC-301O7.4_ENST00000358234.4_lincRNA|TEAD2_ENST00000598810.1_Silent_p.L340L|TEAD2_ENST00000377214.4_Silent_p.L339L|TEAD2_ENST00000539846.1_Silent_p.L208L	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	336	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L336L(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		TCATGTGTTCCAGGCTCTCAT	0.617																																						uc002pnj.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1006-1008)CTG>CTC		TEA domain family member 2							133.0	104.0	113.0					19																	49846557		2203	4300	6503	SO:0001819	synonymous_variant	8463				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:49846557C>G	X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.1008G>C	19.37:g.49846557C>G						uc002pnb.1_5'Flank|TEAD2_uc002png.2_Silent_p.L339L|TEAD2_uc002pnh.2_Silent_p.L340L|TEAD2_uc002pni.2_Silent_p.L339L|TEAD2_uc010yao.1_Silent_p.L208L|TEAD2_uc010emw.2_Silent_p.L339L	p.L336L	NM_003598	NP_003589	Q15562	TEAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)	10	1099	-		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)	336			Transcriptional activation (Potential).		B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Silent	SNP	ENST00000311227.2	37	c.1008G>C	CCDS12761.1																																																																																				PASS	0.617	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1	NM_003598		10	46	10	46	---	---	---	---
SIGLEC9	27180	broad.mit.edu	37	19	51628650	51628650	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr19:51628650C>A	ENST00000250360.3	+	1	486	c.419C>A	c.(418-420)aCa>aAa	p.T140K	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.T140K	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	140	Ig-like V-type.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.T140K(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GTGAATGTGACAGGTAAGGCA	0.532																																						uc002pvu.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(418-420)ACA>AAA		sialic acid binding Ig-like lectin 9 precursor							37.0	38.0	38.0					19																	51628650		2203	4300	6503	SO:0001583	missense	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51628650C>A	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.419C>A	19.37:g.51628650C>A	ENSP00000250360:p.Thr140Lys					SIGLEC9_uc010yct.1_Missense_Mutation_p.T140K	p.T140K	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	1	486	+		all_neural(266;0.0529)	140			Extracellular (Potential).|Ig-like V-type.		Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	c.419C>A	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	15.36	2.811702	0.50527	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.46063	0.88;0.88	3.03	1.88	0.25563	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.587759	0.14183	N	0.335885	T	0.54615	0.1869	M	0.85777	2.775	0.30514	N	0.769114	P	0.50272	0.933	P	0.52267	0.694	T	0.58983	-0.7539	10	0.87932	D	0	.	7.2165	0.25963	0.2617:0.7383:0.0:0.0	.	140	Q9Y336	SIGL9_HUMAN	K	140	ENSP00000413861:T140K;ENSP00000250360:T140K	ENSP00000250360:T140K	T	+	2	0	SIGLEC9	56320462	0.392000	0.25229	0.965000	0.40720	0.103000	0.19146	-0.256000	0.08757	1.508000	0.48769	0.514000	0.50259	ACA		PASS	0.532	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		7	24	7	24	---	---	---	---
ZNF28	7576	broad.mit.edu	37	19	53303738	53303738	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr19:53303738G>A	ENST00000457749.2	-	4	1479	c.1360C>T	c.(1360-1362)Ctt>Ttt	p.L454F	ZNF28_ENST00000360272.4_Missense_Mutation_p.L401F|ZNF28_ENST00000414252.2_Missense_Mutation_p.L401F|ZNF28_ENST00000438150.2_Missense_Mutation_p.L401F	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	454					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.L401F(2)|p.L454F(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TGGCGTGCAAGAGTTGATTGT	0.373																																						uc002qad.2																			3	Substitution - Missense(3)		lung(3)	skin(1)	1						c.(1360-1362)CTT>TTT		zinc finger protein 28							113.0	116.0	115.0					19																	53303738		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303738G>A	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1360C>T	19.37:g.53303738G>A	ENSP00000397693:p.Leu454Phe					ZNF28_uc002qac.2_Missense_Mutation_p.L401F|ZNF28_uc010eqe.2_Missense_Mutation_p.L400F	p.L454F	NM_006969	NP_008900	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	4	1480	-			454			C2H2-type 9.		A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.1360C>T	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	11.37	1.619253	0.28801	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	1.74	1.74	0.24563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.66336	0.2779	M	0.79011	2.435	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.53767	-0.8392	9	0.62326	D	0.03	.	10.4845	0.44713	0.0:0.0:1.0:0.0	.	454	P17035	ZNF28_HUMAN	F	401;454;401;401;401	ENSP00000412143:L401F;ENSP00000397693:L454F;ENSP00000353410:L401F;ENSP00000444965:L401F;ENSP00000375661:L401F	ENSP00000353410:L401F	L	-	1	0	ZNF28	57995550	0.233000	0.23772	0.002000	0.10522	0.009000	0.06853	1.484000	0.35508	0.955000	0.37878	0.186000	0.17326	CTT		PASS	0.373	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		25	83	25	83	---	---	---	---
CNOT3	4849	broad.mit.edu	37	19	54649754	54649754	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr19:54649754C>T	ENST00000406403.1	+	8	2415	c.812C>T	c.(811-813)cCg>cTg	p.P271L	CNOT3_ENST00000221232.5_Missense_Mutation_p.P271L|CNOT3_ENST00000358389.3_Missense_Mutation_p.P90L			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	271					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.P271L(1)|p.P90L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCTCCCATCCCGCCCAGCCCA	0.622																																						uc002qdj.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(811-813)CCG>CTG		CCR4-NOT transcription complex, subunit 3							142.0	120.0	128.0					19																	54649754		2203	4300	6503	SO:0001583	missense	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54649754C>T	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.812C>T	19.37:g.54649754C>T	ENSP00000383954:p.Pro271Leu					CNOT3_uc010yel.1_Missense_Mutation_p.P271L|CNOT3_uc002qdi.2_Missense_Mutation_p.P184L|CNOT3_uc002qdk.1_Missense_Mutation_p.P271L|CNOT3_uc010ere.1_RNA	p.P271L	NM_014516	NP_055331	O75175	CNOT3_HUMAN			9	1123	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		271					Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	c.812C>T	CCDS12880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.9|25.9	4.682905|4.682905	0.88542|0.88542	.|.	.|.	ENSG00000088038|ENSG00000088038	ENST00000221232;ENST00000358389;ENST00000406403|ENST00000440571	T;T;T|.	0.58506|.	0.84;0.33;0.84|.	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.52125|0.52125	0.1715|0.1715	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.997;0.997;0.998|.	T|T	0.46261|0.46261	-0.9204|-0.9204	10|5	0.59425|.	D|.	0.04|.	-18.8828|-18.8828	17.1265|17.1265	0.86715|0.86715	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	271;271;195|.	B7Z6J7;O75175;Q6ZMJ6|.	.;CNOT3_HUMAN;.|.	L|C	271;90;271|193	ENSP00000221232:P271L;ENSP00000351159:P90L;ENSP00000383954:P271L|.	ENSP00000221232:P271L|.	P|R	+|+	2|1	0|0	CNOT3|CNOT3	59341566|59341566	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.978000|0.978000	0.69477|0.69477	5.253000|5.253000	0.65452|0.65452	2.663000|2.663000	0.90544|0.90544	0.655000|0.655000	0.94253|0.94253	CCG|CGC		PASS	0.622	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		12	32	12	32	---	---	---	---
TTYH1	57348	broad.mit.edu	37	19	54930341	54930341	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr19:54930341G>T	ENST00000376530.3	+	2	269	c.166G>T	c.(166-168)Ggc>Tgc	p.G56C	TTYH1_ENST00000376531.3_Missense_Mutation_p.G56C|TTYH1_ENST00000301194.4_Missense_Mutation_p.G56C|TTYH1_ENST00000391739.3_Missense_Mutation_p.G105C	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	56					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)	p.G56C(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		CCTGGGCTTGGGCCTGAGCCT	0.682																																						uc002qfq.2																			2	Substitution - Missense(2)		lung(2)		0						c.(166-168)GGC>TGC		tweety 1 isoform 1							72.0	75.0	74.0					19																	54930341		2203	4298	6501	SO:0001583	missense	57348				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity	g.chr19:54930341G>T	AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"""tweety (Drosophila) homolog 1"", ""tweety homolog 1 (Drosophila)"""			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.166G>T	19.37:g.54930341G>T	ENSP00000365713:p.Gly56Cys					TTYH1_uc010yey.1_Missense_Mutation_p.G105C|TTYH1_uc002qfr.2_Missense_Mutation_p.G56C|TTYH1_uc002qft.2_Missense_Mutation_p.G56C|TTYH1_uc002qfu.1_5'Flank	p.G56C	NM_020659	NP_065710	Q9H313	TTYH1_HUMAN		GBM - Glioblastoma multiforme(193;0.0767)	2	258	+	Ovarian(34;0.19)		56			Helical; Name=1; (Potential).		B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Missense_Mutation	SNP	ENST00000376530.3	37	c.166G>T	CCDS12893.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933020	0.73442	.	.	ENSG00000167614	ENST00000444661;ENST00000423529;ENST00000301194;ENST00000376530;ENST00000445095;ENST00000391739;ENST00000376531	T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66	3.5	3.5	0.40072	.	0.183165	0.35870	N	0.002931	T	0.32615	0.0835	M	0.61703	1.905	0.38513	D	0.948522	D;D;D;D	0.89917	1.0;0.994;0.997;1.0	D;P;D;D	0.91635	0.984;0.875;0.912;0.999	T	0.21655	-1.0239	10	0.66056	D	0.02	-19.9431	12.9285	0.58275	0.0:0.0:1.0:0.0	.	105;56;56;56	B7Z1H9;Q9H313-2;Q9H313-3;Q9H313	.;.;.;TTYH1_HUMAN	C	28;52;56;56;105;105;56	ENSP00000391282:G52C;ENSP00000301194:G56C;ENSP00000365713:G56C;ENSP00000393592:G105C;ENSP00000375619:G105C;ENSP00000365714:G56C	ENSP00000301194:G56C	G	+	1	0	TTYH1	59622153	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.794000	0.62482	1.978000	0.57642	0.555000	0.69702	GGC		PASS	0.682	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140498.1			16	36	16	36	---	---	---	---
SYT5	6861	broad.mit.edu	37	19	55687076	55687076	+	Splice_Site	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr19:55687076C>T	ENST00000354308.3	-	5	910		c.e5+1		CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Splice_Site|SYT5_ENST00000592935.1_5'Flank|SYT5_ENST00000590851.1_Splice_Site	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V						calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.?(1)		kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CAGGAGCTCACCTTGAAGGCG	0.627																																						uc002qjm.1																			1	Unknown(1)		lung(1)		0						c.e4+1		synaptotagmin V							122.0	112.0	115.0					19																	55687076		2203	4300	6503	SO:0001630	splice_region_variant	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55687076C>T	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.540+1G>A	19.37:g.55687076C>T						SYT5_uc002qjp.2_Splice_Site_p.K177_splice|SYT5_uc002qjn.1_Splice_Site_p.K180_splice|SYT5_uc002qjo.1_Splice_Site_p.K180_splice	p.K180_splice	NM_003180	NP_003171	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	4	1600	-								B3KWJ8|B7Z300|Q86X72	Splice_Site	SNP	ENST00000354308.3	37	c.540_splice	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358498	0.82243	.	.	ENSG00000129990	ENST00000537500;ENST00000354308;ENST00000543844	.	.	.	4.26	4.26	0.50523	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3268	0.82986	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYT5	60378888	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.725000	0.84808	2.329000	0.79093	0.555000	0.69702	.		PASS	0.627	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180	Intron	17	49	17	49	---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56388478	56388478	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr19:56388478T>C	ENST00000301295.6	+	8	3064	c.2642T>C	c.(2641-2643)gTg>gCg	p.V881A	NLRP4_ENST00000587891.1_Missense_Mutation_p.V806A|NLRP4_ENST00000346986.5_Missense_Mutation_p.V825A	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	881					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.V881A(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)		GATGTGGGTGTGCAGCTGTTG	0.502																																						uc002qmd.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(2641-2643)GTG>GCG		NLR family, pyrin domain containing 4							204.0	194.0	197.0					19																	56388478		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56388478T>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.2642T>C	19.37:g.56388478T>C	ENSP00000301295:p.Val881Ala					NLRP4_uc002qmf.2_Missense_Mutation_p.V806A|NLRP4_uc010etf.2_Missense_Mutation_p.V656A	p.V881A	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	8	3064	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	881			LRR 6.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.2642T>C	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	T	10.04	1.242679	0.22796	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.43294	0.95;0.95	3.91	1.82	0.25136	.	.	.	.	.	T	0.30665	0.0772	N	0.21142	0.635	0.09310	N	1	P;P;P	0.48640	0.828;0.825;0.913	P;B;P	0.46850	0.462;0.394;0.529	T	0.09037	-1.0693	9	0.36615	T	0.2	.	5.541	0.17038	0.0:0.2311:0.0:0.7689	.	825;806;881	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	A	881;825	ENSP00000301295:V881A;ENSP00000344787:V825A	ENSP00000301295:V881A	V	+	2	0	NLRP4	61080290	0.012000	0.17670	0.000000	0.03702	0.000000	0.00434	1.359000	0.34113	0.215000	0.20761	-0.361000	0.07541	GTG		PASS	0.502	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		22	56	22	56	---	---	---	---
USP29	57663	broad.mit.edu	37	19	57642755	57642755	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr19:57642755G>T	ENST00000254181.4	+	4	3166	c.2712G>T	c.(2710-2712)caG>caT	p.Q904H	USP29_ENST00000598197.1_Missense_Mutation_p.Q904H|U3_ENST00000516874.1_RNA	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	904					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.Q904H(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTAGCACACAGGCAGGGGTGA	0.493																																						uc002qny.2																			1	Substitution - Missense(1)		lung(1)	lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(2710-2712)CAG>CAT		ubiquitin specific peptidase 29							61.0	69.0	66.0					19																	57642755		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57642755G>T		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.2712G>T	19.37:g.57642755G>T	ENSP00000254181:p.Gln904His						p.Q904H	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	3068	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	904						Missense_Mutation	SNP	ENST00000254181.4	37	c.2712G>T	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331268	0.24167	.	.	ENSG00000131864	ENST00000254181	T	0.48836	0.8	3.06	-0.638	0.11500	.	.	.	.	.	T	0.25568	0.0622	N	0.22421	0.69	0.09310	N	1	P	0.48294	0.908	B	0.39027	0.288	T	0.19321	-1.0309	9	0.72032	D	0.01	2.6239	1.1693	0.01822	0.1409:0.2145:0.4033:0.2413	.	904	Q9HBJ7	UBP29_HUMAN	H	904	ENSP00000254181:Q904H	ENSP00000254181:Q904H	Q	+	3	2	USP29	62334567	0.016000	0.18221	0.000000	0.03702	0.013000	0.08279	0.442000	0.21628	-0.050000	0.13356	0.591000	0.81541	CAG		PASS	0.493	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			17	59	17	59	---	---	---	---
ZIM3	114026	broad.mit.edu	37	19	57646494	57646494	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr19:57646494G>C	ENST00000269834.1	-	5	1596	c.1211C>G	c.(1210-1212)tCa>tGa	p.S404*	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	404					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.S404*(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATGAAGGTTTGACTTCTGAAA	0.378																																						uc002qnz.1																			1	Substitution - Nonsense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1210-1212)TCA>TGA		zinc finger, imprinted 3							145.0	149.0	147.0					19																	57646494		2203	4300	6503	SO:0001587	stop_gained	114026				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57646494G>C	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.1211C>G	19.37:g.57646494G>C	ENSP00000269834:p.Ser404*						p.S404*	NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1597	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	404			C2H2-type 9.		Q14CA6	Nonsense_Mutation	SNP	ENST00000269834.1	37	c.1211C>G	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624873	0.87560	.	.	ENSG00000141946	ENST00000269834	.	.	.	2.71	2.71	0.32032	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999994	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	7.6617	0.28407	0.0:0.2648:0.7352:0.0	.	.	.	.	X	404	.	ENSP00000269834:S404X	S	-	2	0	ZIM3	62338306	0.000000	0.05858	0.118000	0.21660	0.112000	0.19704	0.294000	0.19047	1.510000	0.48803	0.313000	0.20887	TCA		PASS	0.378	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			13	128	13	128	---	---	---	---
ZNF548	147694	broad.mit.edu	37	19	57911091	57911091	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr19:57911091G>A	ENST00000366197.5	+	3	1686	c.1436G>A	c.(1435-1437)tGc>tAc	p.C479Y	AC003002.6_ENST00000596400.1_Intron|AC003002.6_ENST00000600421.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.C491Y|AC004076.7_ENST00000597410.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	479					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.C491Y(1)		breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCTTATGAGTGCAGCGAATGC	0.468																																						uc002qom.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1435-1437)TGC>TAC		zinc finger protein 548							95.0	98.0	97.0					19																	57911091		2137	4278	6415	SO:0001583	missense	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57911091G>A	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.1436G>A	19.37:g.57911091G>A	ENSP00000379482:p.Cys479Tyr					ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.C482Y	p.C479Y	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1686	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	479			C2H2-type 11.		Q96M05	Missense_Mutation	SNP	ENST00000366197.5	37	c.1436G>A	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.912635	0.52439	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	D;D	0.85088	-1.94;-1.94	2.22	2.22	0.28083	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93138	0.7815	M	0.93678	3.445	0.32594	N	0.526815	D;D	0.76494	0.999;0.999	D;D	0.72075	0.96;0.976	D	0.92960	0.6388	9	0.87932	D	0	.	10.5236	0.44934	0.0:0.0:1.0:0.0	.	491;479	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	Y	491;479	ENSP00000337555:C491Y;ENSP00000379482:C479Y	ENSP00000337555:C491Y	C	+	2	0	ZNF548	62602903	0.996000	0.38824	0.821000	0.32701	0.977000	0.68977	2.891000	0.48617	1.574000	0.49760	0.655000	0.94253	TGC		PASS	0.468	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		24	87	24	87	---	---	---	---
ZSCAN4	201516	broad.mit.edu	37	19	58190146	58190146	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr19:58190146G>T	ENST00000318203.5	+	5	1872	c.1175G>T	c.(1174-1176)gGa>gTa	p.G392V		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	392					telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G392V(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		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;0.026)		ATCCACACAGGAGAAAAGCCT	0.453																																						uc002qpu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1174-1176)GGA>GTA		zinc finger and SCAN domain containing 4							118.0	128.0	125.0					19																	58190146		2203	4300	6503	SO:0001583	missense	201516				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58190146G>T	AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"""-"", ""Zinc fingers, C2H2-type"""	23709	protein-coding gene	gene with protein product		613419	"""zinc finger protein 494"""	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.1175G>T	19.37:g.58190146G>T	ENSP00000321963:p.Gly392Val						p.G392V	NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1872	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	392					Q3MIQ2	Missense_Mutation	SNP	ENST00000318203.5	37	c.1175G>T	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795386	0.70452	.	.	ENSG00000180532	ENST00000318203	T	0.23552	1.9	4.88	4.88	0.63580	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.133553	0.34906	N	0.003595	T	0.58722	0.2142	M	0.88704	2.975	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	T	0.66602	-0.5882	10	0.72032	D	0.01	-26.2679	17.3303	0.87261	0.0:0.0:1.0:0.0	.	392	Q8NAM6	ZSCA4_HUMAN	V	392	ENSP00000321963:G392V	ENSP00000321963:G392V	G	+	2	0	ZSCAN4	62881958	0.995000	0.38212	0.990000	0.47175	0.962000	0.63368	2.534000	0.45676	2.699000	0.92147	0.650000	0.86243	GGA		PASS	0.453	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677		40	108	40	108	---	---	---	---
ZNF135	7694	broad.mit.edu	37	19	58578819	58578819	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr19:58578819G>A	ENST00000313434.5	+	5	1068	c.967G>A	c.(967-969)Gag>Aag	p.E323K	ZNF135_ENST00000439855.2_Missense_Mutation_p.E323K|ZNF135_ENST00000506786.1_Missense_Mutation_p.E281K|ZNF135_ENST00000511556.1_Missense_Mutation_p.E335K|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000401053.4_Missense_Mutation_p.E347K|ZNF135_ENST00000359978.6_Missense_Mutation_p.E335K	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	323					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E347K(1)|p.E323K(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		TCACACAGGCGAGAAGCCCTA	0.542																																						uc010yhq.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1003-1005)GAG>AAG		zinc finger protein 135 isoform 2							54.0	52.0	53.0					19																	58578819		2203	4300	6503	SO:0001583	missense	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58578819G>A	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.967G>A	19.37:g.58578819G>A	ENSP00000321406:p.Glu323Lys					ZNF135_uc002qre.2_Missense_Mutation_p.E323K|ZNF135_uc002qrd.1_Missense_Mutation_p.E281K|ZNF135_uc002qrf.2_Missense_Mutation_p.E281K|ZNF135_uc002qrg.2_Missense_Mutation_p.E293K|ZNF135_uc010yhr.1_Missense_Mutation_p.E144K	p.E335K	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	1099	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	335					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37	c.1003G>A		.	.	.	.	.	.	.	.	.	.	G	12.84	2.058938	0.36277	.	.	ENSG00000176293	ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86	3.19	2.09	0.27110	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46852	0.1414	M	0.69823	2.125	0.27007	N	0.964775	D;D;D	0.89917	1.0;0.994;0.976	D;D;P	0.91635	0.999;0.911;0.636	T	0.24870	-1.0148	9	0.56958	D	0.05	.	9.8472	0.41034	0.11:0.0:0.89:0.0	.	335;323;335	E9PEV2;P52742;Q8N1I7	.;ZN135_HUMAN;.	K	335;347;335;323;323;335;281	ENSP00000441410:E347K;ENSP00000369437:E335K;ENSP00000444828:E323K;ENSP00000321406:E323K;ENSP00000422074:E335K;ENSP00000427691:E281K	ENSP00000321406:E323K	E	+	1	0	ZNF135	63270631	0.999000	0.42202	0.018000	0.16275	0.003000	0.03518	2.786000	0.47790	0.639000	0.30564	0.563000	0.77884	GAG		PASS	0.542	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		13	69	13	69	---	---	---	---
GNAS	2778	broad.mit.edu	37	20	57484238	57484238	+	Silent	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr20:57484238G>A	ENST00000371085.3	+	7	976	c.552G>A	c.(550-552)gtG>gtA	p.V184V	GNAS_ENST00000371100.4_Silent_p.V827V|GNAS_ENST00000306090.10_Silent_p.V170V|GNAS_ENST00000371102.4_Silent_p.V813V|GNAS_ENST00000371095.3_Silent_p.V170V|GNAS_ENST00000354359.7_Silent_p.V185V|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Silent_p.V169V|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_3'UTR	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	184					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.V184V(1)|p.V827V(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGATCGACGTGATCAAGCAGG	0.507			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	uc002xzw.2				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	McCune-Albright syndrome; pseudohypoparathyroidism|type IA	E			pituitary adenoma		2	Substitution - coding silent(2)		lung(2)	pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292						c.(2479-2481)GTG>GTA		GNAS complex locus XLas							255.0	249.0	251.0					20																	57484238		2203	4300	6503	SO:0001819	synonymous_variant	2778	3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome			activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57484238G>A	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.552G>A	20.37:g.57484238G>A		TSP Lung(22;0.16)				GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Silent_p.V125V|GNAS_uc002xzx.2_Silent_p.V125V|GNAS_uc010gjr.2_Silent_p.V75V|GNAS_uc002xzy.2_Silent_p.V110V|GNAS_uc002yaa.2_Silent_p.V170V|GNAS_uc010zzt.1_Silent_p.V185V|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Silent_p.V75V|GNAS_uc002yae.2_Silent_p.V109V	p.V827V	NM_080425	NP_536350	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		7	2766	+	all_lung(29;0.0104)		184					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Silent	SNP	ENST00000371085.3	37	c.2481G>A	CCDS13472.1																																																																																				PASS	0.507	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		73	147	73	147	---	---	---	---
TMPRSS15	5651	broad.mit.edu	37	21	19666726	19666726	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr21:19666726G>A	ENST00000284885.3	-	21	2380	c.2347C>T	c.(2347-2349)Cca>Tca	p.P783S		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	783						brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.P783S(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ACAATCTTTGGGGTGATGTCT	0.458																																						uc002ykw.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						c.(2347-2349)CCA>TCA		enterokinase precursor							107.0	116.0	113.0					21																	19666726		2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19666726G>A		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2347C>T	21.37:g.19666726G>A	ENSP00000284885:p.Pro783Ser						p.P783S	NM_002772	NP_002763	P98073	ENTK_HUMAN			21	2378	-			783			Extracellular (Potential).		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.2347C>T	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	G	2.052	-0.417472	0.04766	.	.	ENSG00000154646	ENST00000284885	D	0.92595	-3.07	5.79	4.88	0.63580	Speract/scavenger receptor (1);Peptidase cysteine/serine, trypsin-like (1);Speract/scavenger receptor-related (1);	0.220560	0.38492	N	0.001677	T	0.79534	0.4462	N	0.05177	-0.1	0.09310	N	1	B	0.18310	0.027	B	0.15052	0.012	T	0.63319	-0.6664	9	.	.	.	.	7.6899	0.28561	0.0825:0.0:0.7543:0.1632	.	783	P98073	ENTK_HUMAN	S	783	ENSP00000284885:P783S	.	P	-	1	0	TMPRSS15	18588597	0.043000	0.20138	0.129000	0.21949	0.129000	0.20672	1.286000	0.33273	2.729000	0.93468	0.643000	0.83706	CCA		PASS	0.458	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		18	64	18	64	---	---	---	---
DOPEY2	9980	broad.mit.edu	37	21	37610953	37610953	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr21:37610953G>C	ENST00000399151.3	+	17	2915	c.2830G>C	c.(2830-2832)Gag>Cag	p.E944Q		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	944					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.E944Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCTGACAAGAGAGATCCAAGG	0.473																																						uc002yvg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2830-2832)GAG>CAG		pad-1-like							140.0	122.0	128.0					21																	37610953		2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37610953G>C	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.2830G>C	21.37:g.37610953G>C	ENSP00000382104:p.Glu944Gln					DOPEY2_uc011aeb.1_Missense_Mutation_p.E893Q	p.E944Q	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN			17	2909	+			944					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.2830G>C	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373014	0.82573	.	.	ENSG00000142197	ENST00000399151	T	0.12879	2.64	5.49	4.6	0.57074	.	0.050442	0.85682	D	0.000000	T	0.31482	0.0798	M	0.76328	2.33	0.51767	D	0.999936	D;D	0.57571	0.98;0.967	P;P	0.55999	0.789;0.619	T	0.08391	-1.0724	10	0.54805	T	0.06	-10.4648	14.6682	0.68924	0.0704:0.0:0.9296:0.0	.	944;944	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	Q	944	ENSP00000382104:E944Q	ENSP00000382104:E944Q	E	+	1	0	DOPEY2	36532823	1.000000	0.71417	0.867000	0.34043	0.935000	0.57460	9.357000	0.97099	1.295000	0.44724	0.561000	0.74099	GAG		PASS	0.473	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		8	30	8	30	---	---	---	---
GGT1	2678	broad.mit.edu	37	22	25007072	25007072	+	Silent	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr22:25007072G>A	ENST00000400382.1	+	5	779	c.24G>A	c.(22-24)ctG>ctA	p.L8L	GGT1_ENST00000400383.1_Silent_p.L8L|GGT1_ENST00000406383.2_Silent_p.L8L|GGT1_ENST00000400380.1_Silent_p.L8L|GGT1_ENST00000248923.4_Silent_p.L8L			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	8					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.L8L(1)		breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TAGTGGTGCTGGGCCTGCTGG	0.617																																						uc003aan.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(22-24)CTG>CTA		gamma-glutamyltransferase 1 precursor	Glutathione(DB00143)						9.0	9.0	9.0					22																	25007072		1928	4075	6003	SO:0001819	synonymous_variant	2678				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	g.chr22:25007072G>A	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.24G>A	22.37:g.25007072G>A						GGT1_uc003aas.1_Silent_p.L8L|GGT1_uc003aat.1_Silent_p.L8L|GGT1_uc003aau.1_Silent_p.L8L|GGT1_uc003aav.1_Silent_p.L8L|GGT1_uc003aaw.1_Silent_p.L8L|GGT1_uc003aax.1_Silent_p.L8L	p.L8L	NM_013430	NP_038347	P19440	GGT1_HUMAN			5	511	+			8			Helical; Signal-anchor for type II membrane protein; (Probable).		Q08247|Q14404|Q8TBS1|Q9UMK1	Silent	SNP	ENST00000400382.1	37	c.24G>A	CCDS42992.1																																																																																				PASS	0.617	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430		5	9	5	9	---	---	---	---
MN1	4330	broad.mit.edu	37	22	28195045	28195045	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr22:28195045C>T	ENST00000302326.4	-	1	2441	c.1487G>A	c.(1486-1488)gGc>gAc	p.G496D		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	496					intramembranous ossification (GO:0001957)			p.G496D(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TGTGAACTCGCCGGGTAGGCC	0.687			T	ETV6	"""AML, meningioma"""																																	uc003adj.2				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		AML|meningioma		1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						c.(1486-1488)GGC>GAC		meningioma  1							12.0	16.0	15.0					22																	28195045		2095	4214	6309	SO:0001583	missense	4330						binding	g.chr22:28195045C>T	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1487G>A	22.37:g.28195045C>T	ENSP00000304956:p.Gly496Asp						p.G496D	NM_002430	NP_002421	Q10571	MN1_HUMAN			1	2442	-			496					A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	c.1487G>A	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994779	0.74703	.	.	ENSG00000169184	ENST00000302326	T	0.50813	0.73	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.58192	0.2105	L	0.29908	0.895	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.63545	-0.6613	10	0.87932	D	0	-17.6009	16.4168	0.83744	0.0:1.0:0.0:0.0	.	496	Q10571	MN1_HUMAN	D	496	ENSP00000304956:G496D	ENSP00000304956:G496D	G	-	2	0	MN1	26525045	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.382000	0.66213	2.192000	0.70111	0.313000	0.20887	GGC		PASS	0.687	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		4	12	4	12	---	---	---	---
TOM1	10043	broad.mit.edu	37	22	35713920	35713920	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr22:35713920G>C	ENST00000449058.2	+	2	228	c.103G>C	c.(103-105)Gag>Cag	p.E35Q	TOM1_ENST00000436462.2_Missense_Mutation_p.W13C|TOM1_ENST00000447733.1_Missense_Mutation_p.E2Q|TOM1_ENST00000411850.1_Missense_Mutation_p.E35Q|TOM1_ENST00000425375.1_Missense_Mutation_p.E35Q|TOM1_ENST00000382034.5_5'UTR	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	35	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	clathrin binding (GO:0030276)	p.E35Q(1)		NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CCTCAACATGGAGATCTGCGA	0.582																																						uc003ann.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(103-105)GAG>CAG		target of myb1 isoform 1							112.0	109.0	110.0					22																	35713920		2203	4300	6503	SO:0001583	missense	10043				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding	g.chr22:35713920G>C	AJ006973	CCDS13913.1, CCDS46696.1, CCDS46697.1, CCDS46698.1	22q13.1	2011-01-31	2001-11-28		ENSG00000100284	ENSG00000100284			11982	protein-coding gene	gene with protein product		604700	"""target of myb1 (chicken) homolog"""			10329004, 15047686	Standard	NM_005488		Approved		uc003anp.3	O60784	OTTHUMG00000150958	ENST00000449058.2:c.103G>C	22.37:g.35713920G>C	ENSP00000394466:p.Glu35Gln					TOM1_uc011ami.1_Missense_Mutation_p.E2Q|TOM1_uc011amj.1_5'UTR|TOM1_uc003ans.2_5'UTR|TOM1_uc011amk.1_Missense_Mutation_p.W13C|TOM1_uc003anp.2_Missense_Mutation_p.E35Q|TOM1_uc011aml.1_Missense_Mutation_p.E35Q|TOM1_uc003ano.2_RNA|TOM1_uc003anq.2_Missense_Mutation_p.E35Q|TOM1_uc003anr.2_5'UTR	p.E35Q	NM_005488	NP_005479	O60784	TOM1_HUMAN			2	228	+			35			VHS.		B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Missense_Mutation	SNP	ENST00000449058.2	37	c.103G>C	CCDS13913.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.595876|5.595876	0.96602|0.96602	.|.	.|.	ENSG00000100284|ENSG00000100284	ENST00000447733;ENST00000456128;ENST00000449058;ENST00000411850;ENST00000425375;ENST00000450839;ENST00000451197;ENST00000443206|ENST00000436462	T;T;T;T;T;T|T	0.23754|0.21031	1.89;1.89;1.89;1.89;1.89;1.89|2.03	5.36|5.36	5.36|5.36	0.76844|0.76844	VHS subgroup (1);ENTH/VHS (2);VHS (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.48677|0.48677	0.1513|0.1513	M|M	0.76433|0.76433	2.335|2.335	0.80722|0.80722	D|D	1|1	D;D;D;D|D	0.89917|0.89917	1.0;0.999;1.0;1.0|1.0	D;D;D;D|D	0.91635|0.71184	0.995;0.975;0.999;0.999|0.972	T|T	0.48269|0.48269	-0.9050|-0.9050	10|9	0.54805|0.56958	T|D	0.06|0.05	-24.5161|-24.5161	19.079|19.079	0.93173|0.93173	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	35;35;35;35|13	O60784-3;B4DKQ5;O60784-2;O60784|E7EPD0	.;.;.;TOM1_HUMAN|.	Q|C	2;35;35;35;35;35;35;2|13	ENSP00000398876:E2Q;ENSP00000393714:E35Q;ENSP00000394466:E35Q;ENSP00000413697:E35Q;ENSP00000394924:E35Q;ENSP00000389789:E2Q|ENSP00000402556:W13C	ENSP00000338422:E35Q|ENSP00000402556:W13C	E|W	+|+	1|3	0|0	TOM1|TOM1	34043920|34043920	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	9.799000|9.799000	0.99117|0.99117	2.502000|2.502000	0.84385|0.84385	0.561000|0.561000	0.74099|0.74099	GAG|TGG		PASS	0.582	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320641.1	NM_005488		10	35	10	35	---	---	---	---
ELFN2	114794	broad.mit.edu	37	22	37770023	37770023	+	Missense_Mutation	SNP	C	C	T	rs199741364	byFrequency	TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr22:37770023C>T	ENST00000402918.2	-	3	2337	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K	ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.5_ENST00000430883.1_RNA|RP1-63G5.8_ENST00000609322.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	518					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)	p.E518K(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					AGGTCATCCTCGGGCCGAGCC	0.627													C|||	3	0.000599042	0.0	0.0	5008	,	,		15282	0.003		0.0	False		,,,				2504	0.0					uc003asq.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1552-1554)GAG>AAG		leucine rich repeat containing 62							58.0	59.0	59.0					22																	37770023		2203	4300	6503	SO:0001583	missense	114794					cell surface|integral to membrane		g.chr22:37770023C>T	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.1552G>A	22.37:g.37770023C>T	ENSP00000385277:p.Glu518Lys						p.E518K	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN			3	2338	-	Melanoma(58;0.0574)		518			Cytoplasmic (Potential).		Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	c.1552G>A	CCDS33642.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	9.293	1.050996	0.19827	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.30182	1.54;1.54	4.79	4.79	0.61399	.	0.105472	0.64402	D	0.000009	T	0.17365	0.0417	L	0.40543	1.245	0.45979	D	0.998794	P	0.45827	0.867	B	0.31101	0.124	T	0.12091	-1.0561	10	0.62326	D	0.03	-32.756	17.8355	0.88694	0.0:1.0:0.0:0.0	.	518	Q5R3F8	PPR29_HUMAN	K	518	ENSP00000300147:E518K;ENSP00000385277:E518K	ENSP00000300147:E518K	E	-	1	0	ELFN2	36099969	0.997000	0.39634	0.952000	0.39060	0.047000	0.14425	3.707000	0.54838	2.195000	0.70347	0.511000	0.50034	GAG		PASS	0.627	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		10	16	10	16	---	---	---	---
EFCAB6	64800	broad.mit.edu	37	22	43972302	43972302	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr22:43972302T>G	ENST00000262726.7	-	26	3548	c.3295A>C	c.(3295-3297)Aag>Cag	p.K1099Q	EFCAB6_ENST00000396231.2_Missense_Mutation_p.K947Q	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1099	EF-hand 12. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.K1099Q(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CAGAAATCCTTAAGAACTTGT	0.313																																						uc003bdy.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.(3295-3297)AAG>CAG		CAP-binding protein complex interacting protein							65.0	70.0	68.0					22																	43972302		2203	4299	6502	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:43972302T>G	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3295A>C	22.37:g.43972302T>G	ENSP00000262726:p.Lys1099Gln					EFCAB6_uc003bdz.1_Missense_Mutation_p.K947Q|EFCAB6_uc010gzi.1_Missense_Mutation_p.K947Q|EFCAB6_uc010gzj.1_Missense_Mutation_p.K325Q	p.K1099Q	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			26	3510	-		Ovarian(80;0.0247)|all_neural(38;0.025)	1099			EF-hand 12.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.3295A>C	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	T	15.59	2.877548	0.51801	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.08370	3.1;3.1	5.4	4.36	0.52297	EF-hand-like domain (1);	0.417172	0.25991	N	0.027011	T	0.14485	0.0350	L	0.50333	1.59	0.09310	N	0.999998	D;D	0.63046	0.992;0.967	P;P	0.59357	0.856;0.494	T	0.12502	-1.0545	10	0.22109	T	0.4	-30.6845	5.6762	0.17749	0.0:0.0869:0.3363:0.5768	.	947;1099	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	Q	947;1099	ENSP00000379533:K947Q;ENSP00000262726:K1099Q	ENSP00000262726:K1099Q	K	-	1	0	EFCAB6	42303635	0.915000	0.31059	0.145000	0.22337	0.933000	0.57130	1.469000	0.35343	1.034000	0.39945	0.533000	0.62120	AAG		PASS	0.313	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		16	30	16	30	---	---	---	---
KIAA0930	23313	broad.mit.edu	37	22	45607906	45607906	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr22:45607906G>T	ENST00000336156.5	-	2	212	c.147C>A	c.(145-147)gaC>gaA	p.D49E	KIAA0930_ENST00000251993.7_Missense_Mutation_p.D54E|KIAA0930_ENST00000443310.3_Missense_Mutation_p.D31E|KIAA0930_ENST00000492273.1_Missense_Mutation_p.D54E|KIAA0930_ENST00000496226.1_Missense_Mutation_p.D58E|KIAA0930_ENST00000391627.2_Missense_Mutation_p.D15E	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	49								p.D54E(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						AAAGCATGTCGTCCTGCCGGG	0.617																																						uc003bfx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(145-147)GAC>GAA		hypothetical protein LOC23313 isoform b							62.0	61.0	61.0					22																	45607906		2203	4300	6503	SO:0001583	missense	23313						protein binding	g.chr22:45607906G>T	AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 9"""	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.147C>A	22.37:g.45607906G>T	ENSP00000336720:p.Asp49Glu					C22orf9_uc003bfv.1_Missense_Mutation_p.D58E|C22orf9_uc003bfw.1_Missense_Mutation_p.D54E|C22orf9_uc010gzx.2_Missense_Mutation_p.D31E	p.D49E	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024)	2	213	-		Ovarian(80;0.00965)|all_neural(38;0.0244)	49					B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Missense_Mutation	SNP	ENST00000336156.5	37	c.147C>A	CCDS33665.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557961	0.86231	.	.	ENSG00000100364	ENST00000336156;ENST00000251993;ENST00000391627;ENST00000443310;ENST00000414854;ENST00000424508	.	.	.	5.33	-5.76	0.02376	.	0.046997	0.85682	D	0.000000	T	0.74504	0.3725	M	0.79258	2.445	0.58432	D	0.999998	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.97110	0.995;0.999;0.999;1.0	T	0.78671	-0.2113	9	0.87932	D	0	-19.2892	15.7647	0.78117	0.5895:0.0:0.4105:0.0	.	31;49;54;120	B0AZU2;Q6ICG6;Q6ICG6-2;Q8IUY4	.;K0930_HUMAN;.;.	E	49;54;15;31;15;31	.	ENSP00000251993:D54E	D	-	3	2	KIAA0930	43986570	0.085000	0.21516	0.933000	0.37362	0.976000	0.68499	-0.697000	0.05098	-0.841000	0.04200	-1.101000	0.02118	GAC		PASS	0.617	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2	NM_001009880		10	9	10	9	---	---	---	---
CD99	4267	broad.mit.edu	37	X	2640679	2640679	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chrX:2640679G>C	ENST00000381192.3	+	6	456	c.274G>C	c.(274-276)Gat>Cat	p.D92H	CD99_ENST00000381184.1_Missense_Mutation_p.D92H|CD99_ENST00000381187.3_Missense_Mutation_p.D76H|CD99_ENST00000482405.2_3'UTR	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN	CD99 molecule	92					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.D92Y(1)|p.D92H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						TAGCTTTTCAGATGCTGACCT	0.448																																						uc004cqm.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(274-276)GAT>CAT		CD99 antigen isoform a precursor							519.0	439.0	466.0					X																	2640679		2203	4296	6499	SO:0001583	missense	4267				cell adhesion	cytoplasm|integral to plasma membrane		g.chrX:2640679G>C	M16279	CCDS14119.1, CCDS48071.1, CCDS75947.1	Xp22.32 and Yp11.3	2012-10-02	2006-03-28	2003-02-14	ENSG00000002586	ENSG00000002586		"""Pseudoautosomal regions / PAR1"", ""CD molecules"""	7082	protein-coding gene	gene with protein product		313470, 450000	"""antigen identified by monoclonal antibodies 12E7, F21 and O13"", ""CD99 antigen"""	MIC2			Standard	NM_001122898		Approved		uc004cqm.3	P14209	OTTHUMG00000021073	ENST00000381192.3:c.274G>C	X.37:g.2640679G>C	ENSP00000370588:p.Asp92His					CD99_uc010nda.2_Missense_Mutation_p.D76H|CD99_uc004cqn.2_RNA|CD99_uc004cqo.2_Missense_Mutation_p.D92H	p.D92H	NM_002414	NP_002405	P14209	CD99_HUMAN			6	448	+			92			Extracellular (Potential).		A6NIW1|O00518|Q6ICV7	Missense_Mutation	SNP	ENST00000381192.3	37	c.274G>C	CCDS14119.1	.	.	.	.	.	.	.	.	.	.	g	10.80	1.452325	0.26074	.	.	ENSG00000002586	ENST00000381192;ENST00000381187;ENST00000381184;ENST00000449611	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	1.64	1.64	0.23874	.	0.237290	0.32161	U	0.006498	T	0.73583	0.3605	M	0.78049	2.395	0.09310	N	0.999999	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.76575	0.988;0.988;0.988	T	0.60954	-0.7160	10	0.72032	D	0.01	.	6.3419	0.21327	0.0:0.0:1.0:0.0	.	76;92;92	A6NIW1;B2R932;P14209	.;.;CD99_HUMAN	H	92;76;92;135	ENSP00000370588:D92H;ENSP00000370582:D76H;ENSP00000370579:D92H;ENSP00000405544:D135H	ENSP00000370579:D92H	D	+	1	0	CD99	2650679	0.564000	0.26602	0.007000	0.13788	0.004000	0.04260	1.923000	0.40055	0.819000	0.34492	0.409000	0.27619	GAT		PASS	0.448	CD99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055624.1	NM_001122898		30	92	30	92	---	---	---	---
PNPLA4	8228	broad.mit.edu	37	X	7894053	7894053	+	Silent	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chrX:7894053G>A	ENST00000381042.4	-	2	278	c.108C>T	c.(106-108)gtC>gtT	p.V36V	PNPLA4_ENST00000537427.1_Intron|PNPLA4_ENST00000444736.1_Silent_p.V36V	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	36	Patatin.				lipid catabolic process (GO:0016042)		triglyceride lipase activity (GO:0004806)	p.V36V(1)		kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				CGAAGGCTTTGACATCCTTCA	0.463											OREG0019651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011mhq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(106-108)GTC>GTT		patatin-like phospholipase domain containing 4							95.0	80.0	85.0					X																	7894053		2203	4299	6502	SO:0001819	synonymous_variant	8228				lipid catabolic process		triglyceride lipase activity	g.chrX:7894053G>A	U03886	CCDS14129.1, CCDS55368.1	Xp22.3	2014-03-14			ENSG00000006757	ENSG00000006757	3.1.1.3	"""Patatin-like phospholipase domain containing"""	24887	protein-coding gene	gene with protein product		300102				7806223, 16799181, 19029121	Standard	NM_004650		Approved	DXS1283E, GS2, iPLA2eta	uc011mhr.1	P41247	OTTHUMG00000021103	ENST00000381042.4:c.108C>T	X.37:g.7894053G>A			OREG0019651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	645	PNPLA4_uc011mhr.1_Silent_p.V36V|PNPLA4_uc011mhs.1_Intron	p.V36V	NM_004650	NP_004641	P41247	PLPL4_HUMAN			2	270	-		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)	36			Patatin.		A8K1H3|B4E362|Q8WW83	Silent	SNP	ENST00000381042.4	37	c.108C>T	CCDS14129.1																																																																																				PASS	0.463	PNPLA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055687.1	NM_004650		9	13	9	13	---	---	---	---
TAB3	257397	broad.mit.edu	37	X	30872850	30872850	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chrX:30872850A>G	ENST00000378933.1	-	3	1109	c.932T>C	c.(931-933)gTg>gCg	p.V311A	TAB3_ENST00000378932.2_Missense_Mutation_p.V311A|TAB3_ENST00000378930.3_Missense_Mutation_p.V311A|TAB3_ENST00000288422.2_Missense_Mutation_p.V311A|TAB3_ENST00000378928.1_5'Flank|TAB3-AS2_ENST00000445240.1_RNA	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	311	Pro-rich.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of 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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.V311A(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GGAAGGTTGCACTTGATGCTG	0.498																																					Pancreas(164;1598 1985 29022 43301 49529)	uc004dcj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(931-933)GTG>GCG		mitogen-activated protein kinase kinase kinase 7							142.0	105.0	117.0					X																	30872850		2202	4300	6502	SO:0001583	missense	257397				activation of MAPK 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|plasma membrane	protein binding|zinc ion binding	g.chrX:30872850A>G	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.932T>C	X.37:g.30872850A>G	ENSP00000368215:p.Val311Ala					TAB3_uc004dck.2_Missense_Mutation_p.V311A|TAB3_uc010ngl.2_Missense_Mutation_p.V311A	p.V311A	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN			6	1595	-			311			Pro-rich.		A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	c.932T>C	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	A	4.349	0.064291	0.08388	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.66	4.77	3.51	0.40186	.	0.057466	0.64402	D	0.000002	T	0.55114	0.1900	L	0.27053	0.805	0.48762	D	0.999703	B;B	0.26147	0.143;0.088	B;B	0.30572	0.117;0.055	T	0.48019	-0.9071	10	0.16420	T	0.52	-2.7928	10.5297	0.44969	0.8402:0.1598:0.0:0.0	.	311;311	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	A	311	ENSP00000368215:V311A;ENSP00000368212:V311A;ENSP00000288422:V311A;ENSP00000368214:V311A	ENSP00000288422:V311A	V	-	2	0	TAB3	30782771	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	6.747000	0.74872	1.680000	0.50976	0.437000	0.28790	GTG		PASS	0.498	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787		8	20	8	20	---	---	---	---
KDM6A	7403	broad.mit.edu	37	X	44936072	44936072	+	Splice_Site	SNP	G	G	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chrX:44936072G>A	ENST00000377967.4	+	18	2873		c.e18+1		KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.?(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TAGTATTTACGTGAGTCTGAA	0.383			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3				Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		8	Whole gene deletion(6)|Unknown(2)		oesophagus(2)|breast(2)|pancreas(2)|lung(1)|endometrium(1)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.e18+1		ubiquitously transcribed tetratricopeptide							221.0	167.0	185.0					X																	44936072		2203	4300	6503	SO:0001630	splice_region_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44936072G>A	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2832+1G>A	X.37:g.44936072G>A						KDM6A_uc010nhk.2_Splice_Site_p.Y910_splice|KDM6A_uc011mkz.1_Splice_Site_p.Y996_splice|KDM6A_uc011mla.1_Splice_Site_p.Y899_splice|KDM6A_uc011mlb.1_Splice_Site_p.Y951_splice|KDM6A_uc011mlc.1_Splice_Site_p.Y648_splice|KDM6A_uc011mld.1_Splice_Site_p.Y583_splice	p.Y944_splice	NM_021140	NP_066963	O15550	KDM6A_HUMAN			18	3207	+								Q52LL9|Q5JVQ7	Splice_Site	SNP	ENST00000377967.4	37	c.2832_splice	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553866	0.86231	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000414389;ENST00000433797	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6666	0.91492	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM6A	44821016	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.476000	0.97823	2.351000	0.79841	0.594000	0.82650	.		PASS	0.383	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	Intron	26	28	26	28	---	---	---	---
RBM10	8241	broad.mit.edu	37	X	47044725	47044725	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chrX:47044725A>G	ENST00000377604.3	+	19	2867	c.2125A>G	c.(2125-2127)Acc>Gcc	p.T709A	RBM10_ENST00000345781.6_Missense_Mutation_p.T632A|RBM10_ENST00000329236.7_Missense_Mutation_p.T631A	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	709					3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)	p.T709A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GAGACAGCACACCAGCATGGA	0.632																																					Melanoma(171;120 2705 19495 39241)	uc004dhf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						c.(2125-2127)ACC>GCC		RNA binding motif protein 10 isoform 1							38.0	36.0	36.0					X																	47044725		2203	4300	6503	SO:0001583	missense	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47044725A>G	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.2125A>G	X.37:g.47044725A>G	ENSP00000366829:p.Thr709Ala					RBM10_uc004dhg.2_Missense_Mutation_p.T631A|RBM10_uc004dhh.2_Missense_Mutation_p.T708A|RBM10_uc010nhq.2_Missense_Mutation_p.T632A|RBM10_uc004dhi.2_Missense_Mutation_p.T774A	p.T709A	NM_005676	NP_005667	P98175	RBM10_HUMAN			19	2504	+			709					C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	c.2125A>G	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	A	3.185	-0.167109	0.06461	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.17213	2.97;2.29;2.56	5.63	2.99	0.34606	.	0.132141	0.51477	N	0.000089	T	0.07052	0.0179	N	0.12182	0.205	0.32165	N	0.582473	B;B;B;P;B	0.37207	0.4;0.036;0.108;0.587;0.007	B;B;B;B;B	0.36464	0.121;0.028;0.061;0.225;0.006	T	0.27938	-1.0059	10	0.06099	T	0.92	-14.4098	6.8039	0.23766	0.792:0.0:0.208:0.0	.	632;774;708;631;709	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	A	709;631;632	ENSP00000366829:T709A;ENSP00000328848:T631A;ENSP00000329659:T632A	ENSP00000328848:T631A	T	+	1	0	RBM10	46929669	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.966000	0.49208	0.250000	0.21479	0.486000	0.48141	ACC		PASS	0.632	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		7	4	7	4	---	---	---	---
KDM5C	8242	broad.mit.edu	37	X	53231062	53231062	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chrX:53231062C>A	ENST00000375401.3	-	13	2372	c.1840G>T	c.(1840-1842)Gct>Tct	p.A614S	KDM5C_ENST00000452825.3_Missense_Mutation_p.A547S|KDM5C_ENST00000404049.3_Missense_Mutation_p.A613S|KDM5C_ENST00000465402.1_5'UTR|KDM5C_ENST00000375379.3_Missense_Mutation_p.A614S|KDM5C_ENST00000375383.3_Missense_Mutation_p.A573S	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	614	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.A547S(1)|p.A614S(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						AAGTTGACAGCCTCGGCAAAG	0.547			"""N, F, S"""		clear cell renal carcinoma																																	uc004drz.2				Rec	yes		X	Xp11.22-p11.21	8242	N|F|S	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		2	Substitution - Missense(2)		lung(2)	kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						c.(1840-1842)GCT>TCT		jumonji, AT rich interactive domain 1C isoform							112.0	92.0	99.0					X																	53231062		2203	4300	6503	SO:0001583	missense	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53231062C>A	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.1840G>T	X.37:g.53231062C>A	ENSP00000364550:p.Ala614Ser					KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Missense_Mutation_p.A547S|KDM5C_uc004dsa.2_Missense_Mutation_p.A613S	p.A614S	NM_004187	NP_004178	P41229	KDM5C_HUMAN			13	2373	-			614			JmjC.		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	c.1840G>T	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262804	0.80358	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	5.68	5.68	0.88126	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	T	0.69682	0.3138	L	0.53729	1.69	0.80722	D	1	B;B;B	0.28350	0.173;0.208;0.208	B;B;B	0.38954	0.084;0.286;0.286	T	0.70850	-0.4760	10	0.87932	D	0	-3.6447	16.0037	0.80327	0.0:1.0:0.0:0.0	.	547;613;614	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	S	547;614;613;614;573	ENSP00000445176:A547S;ENSP00000364550:A614S;ENSP00000385394:A613S;ENSP00000364528:A614S;ENSP00000364532:A573S	ENSP00000364528:A614S	A	-	1	0	KDM5C	53247787	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	7.818000	0.86416	2.380000	0.81148	0.600000	0.82982	GCT		PASS	0.547	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		15	18	15	18	---	---	---	---
CYSLTR1	10800	broad.mit.edu	37	X	77528293	77528293	+	Silent	SNP	C	C	A			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chrX:77528293C>A	ENST00000373304.3	-	3	1243	c.951G>T	c.(949-951)gtG>gtT	p.V317V		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	317					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)	p.V317V(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	GTACATAAGTCACGCTGGACA	0.388																																						uc004edb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(949-951)GTG>GTT		cysteinyl leukotriene receptor 1	Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)						64.0	61.0	62.0					X																	77528293		2201	4300	6501	SO:0001819	synonymous_variant	10800				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity	g.chrX:77528293C>A	AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"""GPCR / Class A : Leukotriene receptors"""	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.951G>T	X.37:g.77528293C>A						CYSLTR1_uc010nma.2_Silent_p.V317V|CYSLTR1_uc010nmb.2_Silent_p.V317V	p.V317V	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN			3	1351	-			317			Cytoplasmic (Potential).		B2R954|D3DTE4|Q5JS94|Q8IV19	Silent	SNP	ENST00000373304.3	37	c.951G>T	CCDS14439.1																																																																																				PASS	0.388	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057315.1			5	15	5	15	---	---	---	---
TEX13A	56157	broad.mit.edu	37	X	104464811	104464811	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chrX:104464811G>C	ENST00000413579.1	-	2	382	c.271C>G	c.(271-273)Cgg>Ggg	p.R91G	TEX13A_ENST00000372578.3_Missense_Mutation_p.R91G|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.R91G			Q9BXU3	TX13A_HUMAN	testis expressed 13A	91							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TGCAGCCACCGCACCCTGTGC	0.627																																						uc004ema.2																			0				ovary(2)	2						c.(271-273)CGG>GGG		testis expressed sequence 13A							32.0	32.0	32.0					X																	104464811		2203	4292	6495	SO:0001583	missense	56157					intracellular	zinc ion binding	g.chrX:104464811G>C	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.271C>G	X.37:g.104464811G>C	ENSP00000399753:p.Arg91Gly					IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.R91G	p.R91G	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN			2	383	-			91					B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37	c.271C>G		.	.	.	.	.	.	.	.	.	.	G	4.141	0.024417	0.08054	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	3.11	0.0401	0.14207	.	1.297420	0.05854	N	0.621662	T	0.24198	0.0586	.	.	.	0.19300	N	0.999974	B;B	0.33739	0.422;0.3	B;B	0.24541	0.054;0.054	T	0.20505	-1.0273	8	0.44086	T	0.13	.	8.2	0.31419	0.0:0.0:0.371:0.629	.	91;91	C9JWK0;Q9BXU3	.;TX13A_HUMAN	G	91	.	ENSP00000361656:R91G	R	-	1	2	TEX13A	104351467	0.522000	0.26266	0.886000	0.34754	0.005000	0.04900	0.738000	0.26158	-0.092000	0.12417	-0.285000	0.09966	CGG		PASS	0.627	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		4	10	4	10	---	---	---	---
PRPS1	5631	broad.mit.edu	37	X	106885651	106885651	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chrX:106885651G>T	ENST00000372435.4	+	4	583	c.461G>T	c.(460-462)tGg>tTg	p.W154L	PRPS1_ENST00000372428.4_Missense_Mutation_p.W87L|PRPS1_ENST00000543248.1_Missense_Mutation_p.W154L|PRPS1_ENST00000372418.1_Missense_Mutation_p.W54L	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	154					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|hypoxanthine biosynthetic process (GO:0046101)|nervous system development (GO:0007399)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|pyrimidine nucleotide biosynthetic process (GO:0006221)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|urate biosynthetic process (GO:0034418)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)	p.W154L(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						GTCCTAAAGTGGATAAGGGAG	0.428																																						uc004ene.3																			1	Substitution - Missense(1)		lung(1)	breast(3)|large_intestine(1)	4						c.(460-462)TGG>TTG		phosphoribosyl pyrophosphate synthetase 1							142.0	120.0	128.0					X																	106885651		2203	4300	6503	SO:0001583	missense	5631				5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:106885651G>T	X15331	CCDS14529.1, CCDS76007.1	Xq22.3	2014-09-17			ENSG00000147224	ENSG00000147224	2.7.6.1		9462	protein-coding gene	gene with protein product	"""PRS I"", ""ribose-phosphate diphosphokinase 1"""	311850	"""deafness, X-linked 2, perceptive, congenital"""	DFN2		1962753, 20021999	Standard	NM_002764		Approved	CMTX5, DFNX1	uc004ene.4	P60891	OTTHUMG00000022167	ENST00000372435.4:c.461G>T	X.37:g.106885651G>T	ENSP00000361512:p.Trp154Leu					PRPS1_uc010npg.2_Missense_Mutation_p.W121L|PRPS1_uc011msj.1_Intron	p.W154L	NM_002764	NP_002755	P60891	PRPS1_HUMAN			4	666	+			154					B1ALA8|B2R6T7|B4DNL6|D3DUX6|P09329	Missense_Mutation	SNP	ENST00000372435.4	37	c.461G>T	CCDS14529.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308693	0.81247	.	.	ENSG00000147224	ENST00000372435;ENST00000372428;ENST00000543248;ENST00000372418	D;D;D;D	0.92858	-3.12;-2.83;-3.12;-2.51	4.51	4.51	0.55191	Phosphoribosyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.89574	0.6754	L	0.60455	1.87	0.80722	D	1	P;P	0.43938	0.822;0.822	B;B	0.39027	0.288;0.288	D	0.88691	0.3209	10	0.27785	T	0.31	.	16.0202	0.80478	0.0:0.0:1.0:0.0	.	154;154	Q53FW2;P60891	.;PRPS1_HUMAN	L	154;87;154;54	ENSP00000361512:W154L;ENSP00000361505:W87L;ENSP00000443185:W154L;ENSP00000361495:W54L	ENSP00000361495:W54L	W	+	2	0	PRPS1	106772307	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.357000	0.97099	2.174000	0.68829	0.544000	0.68410	TGG		PASS	0.428	PRPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057840.1			4	56	4	56	---	---	---	---
IL13RA1	3597	broad.mit.edu	37	X	117895230	117895230	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chrX:117895230C>G	ENST00000371666.3	+	6	873	c.806C>G	c.(805-807)aCt>aGt	p.T269S	IL13RA1_ENST00000371642.1_Missense_Mutation_p.T269S|IL13RA1_ENST00000481868.1_3'UTR	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	269	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)	p.T269S(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						AACAGCCAAACTGAGACACAT	0.303																																						uc004eqs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(805-807)ACT>AGT		interleukin 13 receptor, alpha 1 precursor							122.0	121.0	121.0					X																	117895230		2203	4300	6503	SO:0001583	missense	3597					interleukin-13 receptor complex	cytokine receptor activity	g.chrX:117895230C>G	U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"""Interleukins and interleukin receptors"", ""CD molecules"""	5974	protein-coding gene	gene with protein product	"""IL13 receptor alpha-1 chain"", ""CD213a1 antigen"""	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.806C>G	X.37:g.117895230C>G	ENSP00000360730:p.Thr269Ser					IL13RA1_uc004eqr.1_Missense_Mutation_p.T269S|IL13RA1_uc004eqt.1_Missense_Mutation_p.T269S	p.T269S	NM_001560	NP_001551	P78552	I13R1_HUMAN			6	849	+			269			Extracellular (Potential).		O95646|Q5JSL4|Q99656|Q9UDY5	Missense_Mutation	SNP	ENST00000371666.3	37	c.806C>G	CCDS14573.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663925	0.29604	.	.	ENSG00000131724	ENST00000371666;ENST00000371642	D;D	0.84730	-1.89;-1.89	5.94	3.23	0.37069	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.589724	0.17937	N	0.156964	T	0.68824	0.3043	N	0.15975	0.35	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	0.51387	-0.8712	10	0.14252	T	0.57	-4.0871	7.4402	0.27179	0.0:0.7565:0.0:0.2435	.	269;269;269	Q5JSL4;P78552;Q9UDY5	.;I13R1_HUMAN;.	S	269	ENSP00000360730:T269S;ENSP00000360705:T269S	ENSP00000360705:T269S	T	+	2	0	IL13RA1	117779258	0.002000	0.14202	0.001000	0.08648	0.774000	0.43823	1.414000	0.34736	0.657000	0.30906	0.596000	0.82720	ACT		PASS	0.303	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058009.1	NM_001560		29	52	29	52	---	---	---	---
KIAA1210	57481	broad.mit.edu	37	X	118222757	118222757	+	Silent	SNP	T	T	C			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chrX:118222757T>C	ENST00000402510.2	-	11	2435	c.2436A>G	c.(2434-2436)caA>caG	p.Q812Q		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	812								p.Q812Q(1)|p.Q636Q(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AGAAGACTTCTTGTTCATCTT	0.488																																						uc004era.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(1)	5						c.(2434-2436)CAA>CAG		hypothetical protein LOC57481							42.0	40.0	40.0					X																	118222757		1849	4089	5938	SO:0001819	synonymous_variant	57481							g.chrX:118222757T>C	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.2436A>G	X.37:g.118222757T>C							p.Q812Q	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			11	2436	-			812					B7ZCI8|Q5JPN4	Silent	SNP	ENST00000402510.2	37	c.2436A>G	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	T	2.354	-0.348281	0.05208	.	.	ENSG00000248857	ENST00000440399	.	.	.	3.81	1.4	0.22301	.	.	.	.	.	T	0.25121	0.0610	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23691	-1.0181	4	.	.	.	.	4.8975	0.13759	0.0:0.2646:0.0:0.7354	.	.	.	.	G	219	.	.	R	-	1	2	KIAA1210	118106785	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.179000	0.09768	0.185000	0.20105	0.486000	0.48141	AGA		PASS	0.488	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		15	12	15	12	---	---	---	---
ARHGAP36	158763	broad.mit.edu	37	X	130215797	130215797	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chrX:130215797A>G	ENST00000276211.5	+	2	503	c.158A>G	c.(157-159)cAc>cGc	p.H53R	ARHGAP36_ENST00000370921.1_5'Flank|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.H41R	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	53					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.H53R(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GTATCGATACACAGCCTCTCT	0.532																																						uc004evz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(157-159)CAC>CGC		hypothetical protein LOC158763 precursor							138.0	116.0	124.0					X																	130215797		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130215797A>G		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.158A>G	X.37:g.130215797A>G	ENSP00000276211:p.His53Arg					ARHGAP36_uc004ewa.2_Missense_Mutation_p.H41R|ARHGAP36_uc004ewb.2_Missense_Mutation_p.H22R|ARHGAP36_uc004ewc.2_5'Flank	p.H53R	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN			2	503	+			53					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.158A>G	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.309500	0.60414	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432	T;T;T	0.11495	2.77;2.78;2.8	4.16	4.16	0.48862	.	0.000000	0.49305	D	0.000158	T	0.11707	0.0285	N	0.24115	0.695	0.80722	D	1	P;P;P	0.50528	0.936;0.936;0.895	P;P;P	0.53912	0.737;0.737;0.55	T	0.18366	-1.0339	10	0.23891	T	0.37	.	8.6068	0.33778	1.0:0.0:0.0:0.0	.	22;41;53	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	R	53;41;5;22	ENSP00000276211:H53R;ENSP00000359960:H41R;ENSP00000408515:H22R	ENSP00000276211:H53R	H	+	2	0	ARHGAP36	130043478	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	5.349000	0.66010	1.852000	0.53769	0.441000	0.28932	CAC		PASS	0.532	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		12	34	12	34	---	---	---	---
MAGEC3	139081	broad.mit.edu	37	X	140985615	140985615	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chrX:140985615G>T	ENST00000298296.1	+	8	1929	c.1929G>T	c.(1927-1929)gaG>gaT	p.E643D	MAGEC3_ENST00000544766.1_3'UTR|MAGEC3_ENST00000409007.1_3'UTR|MAGEC3_ENST00000443323.2_3'UTR|MAGEC3_ENST00000536088.1_3'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	643	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.E643D(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)					TCTGTCCTGAGTGATGTCTGA	0.532																																						uc011mwp.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(1927-1929)GAG>GAT		melanoma antigen family C, 3 isoform 1							52.0	44.0	47.0					X																	140985615		2201	4296	6497	SO:0001583	missense	139081							g.chrX:140985615G>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.1929G>T	X.37:g.140985615G>T	ENSP00000298296:p.Glu643Asp					MAGEC3_uc004fbs.2_3'UTR|MAGEC3_uc010nsj.2_3'UTR	p.E643D	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			8	1929	+	Acute lymphoblastic leukemia(192;6.56e-05)		643			MAGE 2.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.1929G>T	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	g	8.077	0.771483	0.16051	.	.	ENSG00000165509	ENST00000298296	T	0.03524	3.9	1.03	-2.06	0.07298	.	.	.	.	.	T	0.03053	0.0090	L	0.40543	1.245	0.18873	N	0.999987	P	0.48764	0.915	B	0.40825	0.341	T	0.28073	-1.0055	9	0.87932	D	0	.	2.3192	0.04206	0.415:0.2986:0.2863:0.0	.	643	Q8TD91	MAGC3_HUMAN	D	643	ENSP00000298296:E643D	ENSP00000298296:E643D	E	+	3	2	MAGEC3	140813281	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-1.890000	0.01613	-1.089000	0.03073	0.284000	0.19432	GAG		PASS	0.532	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		17	23	17	23	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140996228	140996228	+	Missense_Mutation	SNP	A	A	G	rs201330612		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chrX:140996228A>G	ENST00000285879.4	+	4	3324	c.3038A>G	c.(3037-3039)tAt>tGt	p.Y1013C	MAGEC1_ENST00000406005.2_Missense_Mutation_p.Y80C	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1013	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.Y1013C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AAGGGCACCTATGCCTCTGAG	0.542										HNSCC(15;0.026)			A|||	1	0.000264901	0.0	0.0014	3775	,	,		13027	0.0		0.0	False		,,,				2504	0.0					uc004fbt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(3037-3039)TAT>TGT		melanoma antigen family C, 1							87.0	79.0	82.0					X																	140996228		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140996228A>G	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.3038A>G	X.37:g.140996228A>G	ENSP00000285879:p.Tyr1013Cys	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Missense_Mutation_p.Y80C	p.Y1013C	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	3324	+	Acute lymphoblastic leukemia(192;6.56e-05)		1013			MAGE.		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.3038A>G	CCDS35417.1	1	6.027727546714888E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	a	0.013	-1.609063	0.00842	.	.	ENSG00000155495	ENST00000285879;ENST00000406005	T;T	0.04406	3.63;3.63	0.837	-0.145	0.13436	.	.	.	.	.	T	0.00906	0.0030	N	0.00042	-2.475	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46938	-0.9155	8	0.29301	T	0.29	.	.	.	.	.	1013	O60732	MAGC1_HUMAN	C	1013;80	ENSP00000285879:Y1013C;ENSP00000385500:Y80C	ENSP00000285879:Y1013C	Y	+	2	0	MAGEC1	140823894	0.009000	0.17119	0.004000	0.12327	0.054000	0.15201	-0.295000	0.08298	-0.116000	0.11893	-0.883000	0.02948	TAT		PASS	0.542	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		35	39	35	39	---	---	---	---
TMCC1-AS1	100507032	broad.mit.edu	37	3	129626087	129626088	+	RNA	DEL	TG	TG	-	rs369860665		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr3:129626087_129626088delTG	ENST00000605830.1	+	0	1829_1830				TMCC1-AS1_ENST00000604747.1_RNA|TMCC1-AS1_ENST00000605698.1_RNA	NR_037893.1				TMCC1 antisense RNA 1 (head to head)																		tctatagttctgtgtgtgtgtg	0.475																																						uc003enb.1																			0													Homo sapiens cDNA FLJ45897 fis, clone OCBBF3025131.																																						0							g.chr3:129626087_129626088delTG			3q22.1	2013-08-20			ENSG00000271270	ENSG00000271270		"""Long non-coding RNAs"""	49060	non-coding RNA	RNA, long non-coding							Standard	NR_037893		Approved				OTTHUMG00000185164		3.37:g.129626097_129626098delTG														3		+									RNA	DEL	ENST00000605830.1	37	c.1828_1829delTG																																																																																						0.475	TMCC1-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000469708.1			4	2	4	2	---	---	---	---
PACSIN1	29993	broad.mit.edu	37	6	34500248	34500248	+	Frame_Shift_Del	DEL	G	G	-			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr6:34500248delG	ENST00000538621.1	+	10	1521	c.1276delG	c.(1276-1278)gggfs	p.G426fs	PACSIN1_ENST00000244458.2_Frame_Shift_Del_p.G426fs|PACSIN1_ENST00000374043.2_Frame_Shift_Del_p.G384fs	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	426	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						CTGGTGCCGTGGGCGGCTGGA	0.652																																						uc003ojo.2																			0					0						c.(1276-1278)GGGfs		protein kinase C and casein kinase substrate in							33.0	27.0	29.0					6																	34500248		2196	4293	6489	SO:0001589	frameshift_variant	29993				endocytosis		protein kinase activity	g.chr6:34500248delG	AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"""syndapin I"""	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.1276delG	6.37:g.34500248delG	ENSP00000439639:p.Gly426fs					PACSIN1_uc003ojp.2_Frame_Shift_Del_p.G426fs	p.G426fs	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN			10	1482	+			426			SH3.		Q9P2G8	Frame_Shift_Del	DEL	ENST00000538621.1	37	c.1276delG	CCDS4793.1																																																																																					0.652	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1			10	5	10	5	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139603731	139603731	+	Frame_Shift_Del	DEL	G	G	-			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr8:139603731delG	ENST00000303045.6	-	64	5075	c.4629delC	c.(4627-4629)gccfs	p.A1543fs	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Frame_Shift_Del_p.A1523fs	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1543	Collagen-like 15.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				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)			GGTCACCTTTGGCTCCTCGCT	0.612										HNSCC(7;0.00092)																												uc003yvd.2																			0				ovary(11)|pancreas(1)|skin(1)	13						c.(4627-4629)GCCfs		collagen, type XXII, alpha 1							62.0	56.0	58.0					8																	139603731		2203	4300	6503	SO:0001589	frameshift_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139603731delG	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.4629delC	8.37:g.139603731delG	ENSP00000303153:p.Ala1543fs	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Frame_Shift_Del_p.A823fs	p.A1543fs	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		64	5076	-	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)		1543			Pro-rich.|Gly-rich.|Collagen-like 15.		B7ZMH0|C9K0G4|Q8IVT9	Frame_Shift_Del	DEL	ENST00000303045.6	37	c.4629delC	CCDS6376.1																																																																																					0.612	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		7	11	7	11	---	---	---	---
RP11-764K9.1	0	broad.mit.edu	37	9	68412348	68412348	+	lincRNA	DEL	A	A	-	rs146411050		TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr9:68412348delA	ENST00000417843.2	-	0	0				MIR4477B_ENST00000581659.1_RNA																							GAGGGCAAAGAAACGTGGAAT	0.552																																						uc004aew.1																			0													Homo sapiens cDNA, FLJ98602.																																						0							g.chr9:68412348delA																													9.37:g.68412348delA						uc004aex.2_5'Flank								2		+									RNA	DEL	ENST00000417843.2	37	c.510delA																																																																																						0.552	RP11-764K9.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000129817.2			12	6	12	6	---	---	---	---
NBEAP1	606	broad.mit.edu	37	15	20871163	20871164	+	RNA	INS	-	-	AA	rs567624867|rs112203395	byFrequency	TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr15:20871163_20871164insAA	ENST00000556948.1	-	0	1925_1926							P0C6P0	BCL8_HUMAN	neurobeachin pseudogene 1																		CTTATAGAGCCAGAGGCAAGTG	0.55														1327	0.264976	0.4183	0.183	5008	,	,		39459	0.2748		0.165	False		,,,				2504	0.2086					uc010tzd.1																			0					0								Homo sapiens mRNA; cDNA DKFZp686P1536 (from clone DKFZp686P1536).																																						606							g.chr15:20871163_20871164insAA			15q11.2	2014-03-20	2011-05-03	2011-05-03	ENSG00000258590	ENSG00000258590			1007	pseudogene	pseudogene		601889	"""B-cell CLL/lymphoma 8"""	BCL8		9159141	Standard	NR_027992		Approved	BCL8A	uc010tze.1	P0C6P0	OTTHUMG00000171717		15.37:g.20871163_20871164insAA														4		-									RNA	INS	ENST00000556948.1	37	c.1923_1924insTT																																																																																						0.550	NBEAP1-002	KNOWN	not_best_in_genome_evidence|basic	retained_intron	pseudogene	OTTHUMT00000414853.1	NR_027992		3	5	3	5	---	---	---	---
CD19	930	broad.mit.edu	37	16	28944602	28944602	+	Frame_Shift_Del	DEL	C	C	-			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr16:28944602delC	ENST00000324662.3	+	4	651	c.607delC	c.(607-609)cccfs	p.P204fs	CD19_ENST00000538922.1_Frame_Shift_Del_p.P204fs|CD19_ENST00000567541.1_Frame_Shift_Del_p.P204fs			P15391	CD19_HUMAN	CD19 molecule	204	Ig-like C2-type 2.				B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						CTGTGGGGTACCCCCTGACTC	0.617																																						uc002drs.2																			0				ovary(2)|central_nervous_system(1)	3						c.(607-609)CCCfs		CD19 antigen precursor							55.0	55.0	55.0					16																	28944602		2197	4300	6497	SO:0001589	frameshift_variant	930				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	g.chr16:28944602delC		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.607delC	16.37:g.28944602delC	ENSP00000313419:p.Pro204fs					uc010vct.1_Intron|CD19_uc010byo.1_Frame_Shift_Del_p.P203fs	p.P203fs	NM_001770	NP_001761	P15391	CD19_HUMAN			4	669	+			203			Extracellular (Potential).|Ig-like C2-type 2.		A0N0P9|F5H635|Q96S68|Q9BRD6	Frame_Shift_Del	DEL	ENST00000324662.3	37	c.607delC	CCDS10644.1																																																																																					0.617	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2			23	14	23	14	---	---	---	---
RASAL3	64926	broad.mit.edu	37	19	15564239	15564239	+	Frame_Shift_Del	DEL	G	G	-			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr19:15564239delG	ENST00000343625.7	-	15	2434	c.2349delC	c.(2347-2349)tccfs	p.S783fs		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	783					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						ACTGGCTCTTGGAGATGAGAG	0.711																																						uc002nbe.2																			0					0						c.(2347-2349)TCCfs		RAS protein activator like 3							7.0	9.0	8.0					19																	15564239		1790	3967	5757	SO:0001589	frameshift_variant	64926				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr19:15564239delG		CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.2349delC	19.37:g.15564239delG	ENSP00000341905:p.Ser783fs					RASAL3_uc002nbd.2_Frame_Shift_Del_p.S123fs|RASAL3_uc010eaa.1_Frame_Shift_Del_p.S271fs	p.S783fs	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN			15	2435	-			783					Q8N2T9|Q9H735	Frame_Shift_Del	DEL	ENST00000343625.7	37	c.2349delC	CCDS46006.1																																																																																					0.711	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3	NM_022904		4	2	4	2	---	---	---	---
NLRP5	126206	broad.mit.edu	37	19	56539152	56539152	+	Frame_Shift_Del	DEL	G	G	-			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chr19:56539152delG	ENST00000390649.3	+	7	1553	c.1553delG	c.(1552-1554)cgcfs	p.R518fs		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	518	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTGGTCCGGCGCTGTCTCAAT	0.592																																						uc002qmj.2																			0				ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(1552-1554)CGCfs		NACHT, LRR and PYD containing protein 5							47.0	48.0	47.0					19																	56539152		2120	4232	6352	SO:0001589	frameshift_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539152delG	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1553delG	19.37:g.56539152delG	ENSP00000375063:p.Arg518fs					NLRP5_uc002qmi.2_Frame_Shift_Del_p.R499fs	p.R518fs	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1553	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	518			NACHT.		A8MTY4|Q86W29	Frame_Shift_Del	DEL	ENST00000390649.3	37	c.1553delG	CCDS12938.1																																																																																					0.592	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		30	13	30	13	---	---	---	---
MMGT1	93380	broad.mit.edu	37	X	135053241	135053241	+	Frame_Shift_Del	DEL	T	T	-			TCGA-66-2791-01A-01D-0983-08	TCGA-66-2791-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd468431-2fa4-45ab-be1f-90671891c5c4	339dce49-88af-447d-926f-e386a031edfd	g.chrX:135053241delT	ENST00000305963.2	-	2	495	c.108delA	c.(106-108)aaafs	p.K36fs	MMGT1_ENST00000433339.2_Frame_Shift_Del_p.K101fs	NM_173470.1	NP_775741.1	Q8N4V1	MMGT1_HUMAN	membrane magnesium transporter 1	36					magnesium ion transport (GO:0015693)	early endosome (GO:0005769)|ER membrane protein complex (GO:0072546)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|endometrium(1)|kidney(1)	3						ATTCATCTTCTTTTTCTGTTA	0.284																																						uc004ezi.1																			0					0						c.(106-108)AAAfs		membrane magnesium transporter 1 precursor							166.0	157.0	160.0					X																	135053241		2203	4300	6503	SO:0001589	frameshift_variant	93380					early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	magnesium ion transmembrane transporter activity	g.chrX:135053241delT	AL157477	CCDS14653.1	Xq26.3	2012-05-23	2008-11-21	2008-11-21	ENSG00000169446	ENSG00000169446			28100	protein-coding gene	gene with protein product	"""ER membrane protein complex subunit 5"""		"""transmembrane protein 32"""	TMEM32		18057121, 22119785	Standard	NM_173470		Approved	EMC5	uc004ezi.1	Q8N4V1	OTTHUMG00000022499	ENST00000305963.2:c.108delA	X.37:g.135053241delT	ENSP00000306220:p.Lys36fs					MMGT1_uc011mvw.1_Frame_Shift_Del_p.K101fs	p.K36fs	NM_173470	NP_775741	Q8N4V1	MMGT1_HUMAN			2	408	-			36			Lumenal (Potential).		B2R625|B4DIY3|D3DWG7|Q5JPP7	Frame_Shift_Del	DEL	ENST00000305963.2	37	c.108delA	CCDS14653.1																																																																																					0.284	MMGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058453.3	NM_173470		32	38	32	38	---	---	---	---
