#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
SCNN1D	6339	broad.mit.edu	37	1	1226035	1226035	+	Silent	SNP	C	C	G	rs371150047		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:1226035C>G	ENST00000338555.2	+	12	2530	c.1386C>G	c.(1384-1386)ctC>ctG	p.L462L	SCNN1D_ENST00000379116.5_Silent_p.L626L|SCNN1D_ENST00000325425.8_Silent_p.L528L|SCNN1D_ENST00000400928.3_Silent_p.L462L			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	462					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)	p.L462L(1)|p.L626L(1)		lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	CATTCAAGCTCTCCACTGGGA	0.652																																						uc001adu.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1384-1386)CTC>CTG		sodium channel, nonvoltage-gated 1, delta							60.0	60.0	60.0					1																	1226035		2191	4290	6481	SO:0001819	synonymous_variant	6339							g.chr1:1226035C>G	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10601	protein-coding gene	gene with protein product		601328	"""sodium channel, nonvoltage-gated 1, delta"", ""sodium channel, non-voltage-gated 1, delta"""			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.1386C>G	1.37:g.1226035C>G						SCNN1D_uc001adt.1_Silent_p.L626L|SCNN1D_uc001adw.2_Silent_p.L528L|SCNN1D_uc001adx.2_Silent_p.L251L|SCNN1D_uc001adv.2_Silent_p.L462L	p.L462L	NM_002978	NP_002969				Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	14	2010	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)						A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Silent	SNP	ENST00000338555.2	37	c.1386C>G		.	.	.	.	.	.	.	.	.	.	C	0.050	-1.253121	0.01457	.	.	ENSG00000162572	ENST00000379099	T	0.61742	0.08	3.88	1.72	0.24424	.	0.604741	0.13065	U	0.416538	T	0.54287	0.1849	.	.	.	0.24707	N	0.993226	.	.	.	.	.	.	T	0.47045	-0.9147	7	0.33141	T	0.24	.	12.0203	0.53340	0.0:0.5215:0.4785:0.0	.	.	.	.	V	279	ENSP00000368393:L279V	ENSP00000368393:L279V	L	+	1	0	SCNN1D	1215898	0.000000	0.05858	0.055000	0.19348	0.042000	0.13812	-1.434000	0.02425	0.586000	0.29626	0.306000	0.20318	CTC		PASS	0.652	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	NM_002978		17	31	17	31	---	---	---	---
PRAMEF2	65122	broad.mit.edu	37	1	12921089	12921089	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:12921089C>A	ENST00000240189.2	+	4	967	c.880C>A	c.(880-882)Ccc>Acc	p.P294T		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	294					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.P294T(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCCAGAACCCCTTGGAGAA	0.458																																						uc001aum.1																			1	Substitution - Missense(1)		lung(1)		0						c.(880-882)CCC>ACC		PRAME family member 2							81.0	85.0	84.0					1																	12921089		2201	4296	6497	SO:0001583	missense	65122							g.chr1:12921089C>A		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.880C>A	1.37:g.12921089C>A	ENSP00000240189:p.Pro294Thr						p.P294T	NM_023014	NP_075390	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	967	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	294						Missense_Mutation	SNP	ENST00000240189.2	37	c.880C>A	CCDS149.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791053	0.31685	.	.	ENSG00000120952	ENST00000240189	T	0.00902	5.56	0.815	0.815	0.18763	.	0.065742	0.64402	D	0.000010	T	0.03220	0.0094	M	0.85859	2.78	0.09310	N	0.999999	P	0.50819	0.939	P	0.57324	0.818	T	0.18967	-1.0320	10	0.62326	D	0.03	.	4.9848	0.14183	0.0:1.0:0.0:0.0	.	294	O60811	PRAM2_HUMAN	T	294	ENSP00000240189:P294T	ENSP00000240189:P294T	P	+	1	0	PRAMEF2	12843676	0.206000	0.23470	0.230000	0.23976	0.254000	0.26022	0.616000	0.24344	0.742000	0.32697	0.162000	0.16502	CCC		PASS	0.458	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		4	62	4	62	---	---	---	---
SLC30A2	7780	broad.mit.edu	37	1	26371487	26371487	+	Splice_Site	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:26371487C>G	ENST00000374278.3	-	2	488		c.e2+1		SLC30A2_ENST00000498060.1_Splice_Site|SLC30A2_ENST00000374276.3_Splice_Site	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2						positive regulation of sequestering of zinc ion (GO:0061090)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)	cation transmembrane transporter activity (GO:0008324)	p.?(1)		cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		AAAGTGCTTACCAACGACTTC	0.493																																						uc001blh.1																			1	Unknown(1)		lung(1)		0						c.e2+1		solute carrier family 30, member 2 isoform 2							104.0	105.0	105.0					1																	26371487		2203	4300	6503	SO:0001630	splice_region_variant	7780				positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity	g.chr1:26371487C>G	AK023491	CCDS272.1, CCDS30644.1	1p35.3	2013-05-22			ENSG00000158014	ENSG00000158014		"""Solute carriers"""	11013	protein-coding gene	gene with protein product		609617		ZNT2			Standard	NM_001004434		Approved		uc001blg.1	Q9BRI3	OTTHUMG00000007508	ENST00000374278.3:c.271+1G>C	1.37:g.26371487C>G						SLC30A2_uc001blg.1_Splice_Site_p.G91_splice	p.E91_splice	NM_032513	NP_115902	Q9BRI3	ZNT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)	2	488	-		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)						Q71RC8	Splice_Site	SNP	ENST00000374278.3	37	c.271_splice	CCDS272.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861340	0.51482	.	.	ENSG00000158014	ENST00000374278;ENST00000374276	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0772	0.93168	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC30A2	26244074	1.000000	0.71417	0.999000	0.59377	0.190000	0.23558	7.513000	0.81739	2.791000	0.96007	0.655000	0.94253	.		PASS	0.493	SLC30A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019742.1	NM_032513	Intron	71	28	71	28	---	---	---	---
UBXN11	91544	broad.mit.edu	37	1	26611997	26611997	+	Silent	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:26611997G>C	ENST00000374222.1	-	11	1274	c.810C>G	c.(808-810)ccC>ccG	p.P270P	UBXN11_ENST00000374221.3_Silent_p.P270P|UBXN11_ENST00000374223.1_Silent_p.P27P|UBXN11_ENST00000535108.1_Silent_p.P112P|UBXN11_ENST00000357089.4_Silent_p.P237P|UBXN11_ENST00000374217.2_Silent_p.P237P|UBXN11_ENST00000314675.7_Silent_p.P150P|UBXN11_ENST00000436301.2_Silent_p.P195P			Q5T124	UBX11_HUMAN	UBX domain protein 11	270	SEP. {ECO:0000255|PROSITE- ProRule:PRU00732}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.P270P(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						GGAGCTCTGAGGGAAAGAAGC	0.582											OREG0013265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001blw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(808-810)CCC>CCG		socius isoform 2							40.0	49.0	46.0					1																	26611997		2150	4266	6416	SO:0001819	synonymous_variant	91544					cytoplasm|cytoskeleton		g.chr1:26611997G>C	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.810C>G	1.37:g.26611997G>C			OREG0013265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	788	UBXN11_uc001blz.1_Silent_p.P237P|UBXN11_uc001blv.2_Silent_p.P232P|UBXN11_uc001bly.2_Silent_p.P150P|UBXN11_uc001blx.2_Silent_p.P28P|UBXN11_uc001bma.2_Silent_p.P237P|UBXN11_uc001bmb.1_Silent_p.P270P|UBXN11_uc010ofb.1_Silent_p.P195P|UBXN11_uc010ofc.1_Silent_p.P112P	p.P270P	NM_183008	NP_892120	Q5T124	UBX11_HUMAN			11	1083	-			270			SEP.		D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Silent	SNP	ENST00000374222.1	37	c.810C>G	CCDS41288.1																																																																																				PASS	0.582	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		3	6	3	6	---	---	---	---
ZMPSTE24	10269	broad.mit.edu	37	1	40723960	40723960	+	Missense_Mutation	SNP	C	C	T	rs373684692		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:40723960C>T	ENST00000372759.3	+	1	182	c.17C>T	c.(16-18)tCg>tTg	p.S6L	RP1-39G22.7_ENST00000567508.1_RNA|ZMPSTE24_ENST00000479131.1_3'UTR	NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	6					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)	p.S6W(1)|p.S6L(1)		endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			ATGTGGGCATCGCTGGACGCT	0.632																																						uc001cfg.2																			2	Substitution - Missense(2)		lung(2)		0						c.(16-18)TCG>TTG		zinc metallopeptidase STE24		C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	108.0	97.0	101.0		17	3.5	1.0	1		101	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZMPSTE24	NM_005857.3	145	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	6/476	40723960	2,13004	2203	4300	6503	SO:0001583	missense	10269					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity	g.chr1:40723960C>T	Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"""Hutchinson-Gilford progeria syndrome"", ""CAAX prenyl protease 1 homolog"""	606480	"""zinc metalloproteinase (STE24 homolog, yeast)"", ""zinc metallopeptidase (STE24 homolog, yeast)"", ""zinc metallopeptidase STE24 homolog (S. cerevisiae)"""			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.17C>T	1.37:g.40723960C>T	ENSP00000361845:p.Ser6Leu					uc001cff.2_5'Flank	p.S6L	NM_005857	NP_005848	O75844	FACE1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		1	228	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6					B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Missense_Mutation	SNP	ENST00000372759.3	37	c.17C>T	CCDS449.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280236	0.59758	2.27E-4	1.16E-4	ENSG00000084073	ENST00000372759	T	0.00976	5.48	5.44	3.5	0.40072	.	0.169960	0.48286	N	0.000181	T	0.00580	0.0019	N	0.08118	0	0.28029	N	0.9342	B	0.02656	0.0	B	0.04013	0.001	T	0.44498	-0.9324	10	0.25106	T	0.35	-0.0695	4.3055	0.10944	0.1757:0.6072:0.0:0.217	.	6	O75844	FACE1_HUMAN	L	6	ENSP00000361845:S6L	ENSP00000361845:S6L	S	+	2	0	ZMPSTE24	40496547	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	0.587000	0.23909	1.306000	0.44926	0.655000	0.94253	TCG		PASS	0.632	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015766.1			28	89	28	89	---	---	---	---
PTPRF	5792	broad.mit.edu	37	1	44070639	44070639	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:44070639C>G	ENST00000359947.4	+	17	3443	c.3103C>G	c.(3103-3105)Ccc>Gcc	p.P1035A	PTPRF_ENST00000372413.3_Missense_Mutation_p.P1026A|PTPRF_ENST00000438120.1_Missense_Mutation_p.P1026A|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.P383A|PTPRF_ENST00000372414.3_Missense_Mutation_p.P1035A	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1035	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P1025A(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGGGAGGTTCCCGACTCCTA	0.577																																						uc001cjr.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(3103-3105)CCC>GCC		protein tyrosine phosphatase, receptor type, F							111.0	108.0	109.0					1																	44070639		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44070639C>G	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3103C>G	1.37:g.44070639C>G	ENSP00000353030:p.Pro1035Ala					PTPRF_uc001cjs.2_Missense_Mutation_p.P1026A|PTPRF_uc001cju.2_Missense_Mutation_p.P413A|PTPRF_uc009vwt.2_Missense_Mutation_p.P595A|PTPRF_uc001cjv.2_Missense_Mutation_p.P495A|PTPRF_uc001cjw.2_Missense_Mutation_p.P261A	p.P1035A	NM_002840	NP_002831	P10586	PTPRF_HUMAN			17	3443	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1035			Extracellular (Potential).|Fibronectin type-III 8.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.3103C>G	CCDS489.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	32|32|32	5.181530|5.181530|5.181530	0.94885|0.94885|0.94885	.|.|.	.|.|.	ENSG00000142949|ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000412568;ENST00000414879	.|T;T;T;T;T;T|.	.|0.74526|.	.|-0.01;-0.01;-0.01;-0.01;-0.01;-0.85|.	4.91|4.91|4.91	4.91|4.91|4.91	0.64330|0.64330|0.64330	.|Fibronectin, type III (3);Immunoglobulin-like fold (1);|.	.|0.000000|.	.|0.32624|.	.|N|.	.|0.005853|.	T|T|T	0.74390|0.74390|0.74390	0.3710|0.3710|0.3710	M|M|M	0.68593|0.68593|0.68593	2.085|2.085|2.085	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|P;D;P;D;D|.	.|0.89917|.	.|0.947;0.99;0.781;0.958;1.0|.	.|P;D;B;P;D|.	.|0.87578|.	.|0.7;0.917;0.358;0.726;0.998|.	T|T|T	0.73902|0.73902|0.73902	-0.3836|-0.3836|-0.3836	5|10|5	.|0.52906|.	.|T|.	.|0.07|.	.|.|.	18.4699|18.4699|18.4699	0.90769|0.90769|0.90769	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|680;383;601;1026;1035|.	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.	.|.;.;.;.;PTPRF_HUMAN|.	L|A|C	680|1035;1026;1035;1026;383;96|407;448	.|ENSP00000353030:P1035A;ENSP00000398822:P1026A;ENSP00000361491:P1035A;ENSP00000361490:P1026A;ENSP00000387885:P383A;ENSP00000361484:P96A|.	.|ENSP00000353030:P1035A|.	F|P|S	+|+|+	3|1|2	2|0|0	PTPRF|PTPRF|PTPRF	43843226|43843226|43843226	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.963000|0.963000|0.963000	0.63663|0.63663|0.63663	7.814000|7.814000|7.814000	0.86154|0.86154|0.86154	2.457000|2.457000|2.457000	0.83068|0.83068|0.83068	0.491000|0.491000|0.491000	0.48974|0.48974|0.48974	TTC|CCC|TCC		PASS	0.577	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			19	116	19	116	---	---	---	---
ZSWIM5	57643	broad.mit.edu	37	1	45671861	45671861	+	Silent	SNP	G	G	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:45671861G>T	ENST00000359600.5	-	1	367	c.162C>A	c.(160-162)ctC>ctA	p.L54L	ZSWIM5_ENST00000464588.1_Intron	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	54						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)	p.L54L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGCGGGCCCCGAGGACCAGGC	0.716																																						uc001cnd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(160-162)CTC>CTA		zinc finger, SWIM domain containing 5							6.0	7.0	7.0					1																	45671861		1791	3919	5710	SO:0001819	synonymous_variant	57643						zinc ion binding	g.chr1:45671861G>T	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.162C>A	1.37:g.45671861G>T							p.L54L	NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN			1	390	-	Acute lymphoblastic leukemia(166;0.155)		54					Q5SXQ9	Silent	SNP	ENST00000359600.5	37	c.162C>A	CCDS41319.1																																																																																				PASS	0.716	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		5	12	5	12	---	---	---	---
NRD1	4898	broad.mit.edu	37	1	52266334	52266334	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:52266334C>T	ENST00000354831.7	-	23	2728	c.2539G>A	c.(2539-2541)Gac>Aac	p.D847N	RP4-657D16.6_ENST00000607338.1_RNA|RP4-657D16.3_ENST00000591675.1_RNA|RP4-657D16.3_ENST00000586761.1_RNA|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Missense_Mutation_p.D647N|NRD1_ENST00000539524.1_Missense_Mutation_p.D715N|NRD1_ENST00000352171.7_Missense_Mutation_p.D779N|RP4-657D16.3_ENST00000588291.1_RNA	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	778					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.D847N(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						GCTAAGTAGTCAATAATGAGC	0.383																																						uc001ctc.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2539-2541)GAC>AAC		nardilysin isoform a							110.0	104.0	106.0					1																	52266334		2203	4300	6503	SO:0001583	missense	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52266334C>T	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.2539G>A	1.37:g.52266334C>T	ENSP00000346890:p.Asp847Asn					NRD1_uc009vzb.2_Missense_Mutation_p.D542N|NRD1_uc001ctd.3_Missense_Mutation_p.D779N|NRD1_uc001cte.2_Missense_Mutation_p.D715N|NRD1_uc001ctf.2_Missense_Mutation_p.D779N|NRD1_uc010ong.1_RNA	p.D847N	NM_002525	NP_002516	O43847	NRDC_HUMAN			23	2861	-			778					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	c.2539G>A	CCDS559.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878407	0.51801	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000371665;ENST00000546169;ENST00000544028	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	4.61	3.7	0.42460	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.32645	0.0836	L	0.55990	1.75	0.80722	D	1	P;P;P	0.39250	0.629;0.495;0.665	B;B;B	0.35859	0.212;0.086;0.149	T	0.15122	-1.0448	10	0.44086	T	0.13	-13.8816	12.9796	0.58555	0.0:0.922:0.0:0.078	.	779;778;847	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	N	779;847;715;209;779;647	ENSP00000262679:D779N;ENSP00000346890:D847N;ENSP00000444416:D715N;ENSP00000442262:D647N	ENSP00000262679:D779N	D	-	1	0	NRD1	52038922	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.492000	0.60334	1.170000	0.42753	-0.254000	0.11334	GAC		PASS	0.383	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		27	55	27	55	---	---	---	---
JAK1	3716	broad.mit.edu	37	1	65339169	65339169	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:65339169C>A	ENST00000342505.4	-	5	615	c.367G>T	c.(367-369)Gag>Tag	p.E123*		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	123	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.E123*(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	ACTGACTGCTCATTGTCGTTG	0.493			Mis		ALL																																	uc001dbu.1				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		1	Substitution - Nonsense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61						c.(367-369)GAG>TAG		janus kinase 1							111.0	110.0	110.0					1																	65339169		1952	4170	6122	SO:0001587	stop_gained	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65339169C>A	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.367G>T	1.37:g.65339169C>A	ENSP00000343204:p.Glu123*					JAK1_uc009wam.1_Nonsense_Mutation_p.E111*|JAK1_uc001dbv.2_RNA	p.E123*	NM_002227	NP_002218	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	5	616	-			123			FERM.		Q59GQ2|Q9UD26	Nonsense_Mutation	SNP	ENST00000342505.4	37	c.367G>T	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	C	39	7.336998	0.98221	.	.	ENSG00000162434	ENST00000342505	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.4947	0.95067	0.0:1.0:0.0:0.0	.	.	.	.	X	123	.	ENSP00000343204:E123X	E	-	1	0	JAK1	65111757	1.000000	0.71417	0.968000	0.41197	0.943000	0.58893	5.545000	0.67237	2.776000	0.95493	0.650000	0.86243	GAG		PASS	0.493	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		19	43	19	43	---	---	---	---
GNG12	55970	broad.mit.edu	37	1	68171223	68171223	+	Nonsense_Mutation	SNP	C	C	A	rs200225732		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:68171223C>A	ENST00000370982.3	-	4	329	c.130G>T	c.(130-132)Gag>Tag	p.E44*		NM_018841.5	NP_061329.3	Q9UBI6	GBG12_HUMAN	guanine nucleotide binding protein (G protein), gamma 12	44					cellular response to glucagon stimulus (GO:0071377)|cerebral cortex development (GO:0021987)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|phosphate ion binding (GO:0042301)|signal transducer activity (GO:0004871)	p.E44*(1)		lung(3)	3						GCATGTTCCTCACAGTAGGAC	0.398																																						uc001dea.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(130-132)GAG>TAG		G-protein gamma-12 subunit precursor							122.0	113.0	116.0					1																	68171223		2203	4300	6503	SO:0001587	stop_gained	55970				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity	g.chr1:68171223C>A	AF119663	CCDS30749.1	1p31.2	2008-02-05			ENSG00000172380	ENSG00000172380			19663	protein-coding gene	gene with protein product		615405				10819326	Standard	NM_018841		Approved		uc001dea.2	Q9UBI6	OTTHUMG00000009545	ENST00000370982.3:c.130G>T	1.37:g.68171223C>A	ENSP00000360021:p.Glu44*						p.E44*	NM_018841	NP_061329	Q9UBI6	GBG12_HUMAN			4	322	-			44					Q69YP5|Q9BRV5	Nonsense_Mutation	SNP	ENST00000370982.3	37	c.130G>T	CCDS30749.1	.	.	.	.	.	.	.	.	.	.	C	36	5.716213	0.96830	.	.	ENSG00000172380	ENST00000370982	.	.	.	5.79	5.79	0.91817	.	0.177518	0.50627	D	0.000113	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-4.3998	18.8047	0.92032	0.0:1.0:0.0:0.0	.	.	.	.	X	44	.	ENSP00000360021:E44X	E	-	1	0	GNG12	67943811	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.202000	0.58446	2.749000	0.94314	0.491000	0.48974	GAG		PASS	0.398	GNG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026355.2			21	40	21	40	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103364270	103364270	+	Silent	SNP	A	A	C	rs370559180		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:103364270A>C	ENST00000370096.3	-	56	4512	c.4200T>G	c.(4198-4200)ccT>ccG	p.P1400P	COL11A1_ENST00000358392.2_Silent_p.P1412P|COL11A1_ENST00000512756.1_Silent_p.P1284P|COL11A1_ENST00000353414.4_Silent_p.P1361P	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1400	Collagen-like 6.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.P1400P(1)|p.P1412P(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCTTTCCTGCAGGTCCCTGAG	0.473																																						uc001dul.2																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(4198-4200)CCT>CCG		alpha 1 type XI collagen isoform A							44.0	47.0	46.0					1																	103364270		2203	4300	6503	SO:0001819	synonymous_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103364270A>C	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4200T>G	1.37:g.103364270A>C						COL11A1_uc001duk.2_Silent_p.P596P|COL11A1_uc001dum.2_Silent_p.P1412P|COL11A1_uc001dun.2_Silent_p.P1361P|COL11A1_uc009weh.2_Silent_p.P1284P	p.P1400P	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	56	4518	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1400			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	c.4200T>G	CCDS778.1																																																																																				PASS	0.473	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		17	44	17	44	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103379198	103379198	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:103379198G>T	ENST00000370096.3	-	53	4339	c.4027C>A	c.(4027-4029)Caa>Aaa	p.Q1343K	COL11A1_ENST00000358392.2_Missense_Mutation_p.Q1355K|COL11A1_ENST00000512756.1_Missense_Mutation_p.Q1227K|COL11A1_ENST00000353414.4_Missense_Mutation_p.Q1304K	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1343	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.Q1355K(1)|p.Q1343K(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTCACCGGTTGACCAGGATCT	0.343																																						uc001dul.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(4027-4029)CAA>AAA		alpha 1 type XI collagen isoform A							128.0	127.0	128.0					1																	103379198		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103379198G>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4027C>A	1.37:g.103379198G>T	ENSP00000359114:p.Gln1343Lys					COL11A1_uc001duk.2_Missense_Mutation_p.Q539K|COL11A1_uc001dum.2_Missense_Mutation_p.Q1355K|COL11A1_uc001dun.2_Missense_Mutation_p.Q1304K|COL11A1_uc009weh.2_Missense_Mutation_p.Q1227K	p.Q1343K	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	53	4345	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1343			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.4027C>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990209	0.35131	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.94138	-3.36;-3.36;-3.21;-3.21	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.90823	0.7118	N	0.13299	0.325	0.80722	D	1	P;P;B;P;P	0.49447	0.713;0.811;0.193;0.924;0.811	P;P;B;P;P	0.62298	0.761;0.879;0.096;0.9;0.879	D	0.90145	0.4216	10	0.26408	T	0.33	.	18.3142	0.90213	0.0:0.0:1.0:0.0	.	1227;1304;1355;1343;563	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	K	1343;1355;1304;563;1227	ENSP00000359114:Q1343K;ENSP00000351163:Q1355K;ENSP00000302551:Q1304K;ENSP00000426533:Q1227K	ENSP00000302551:Q1304K	Q	-	1	0	COL11A1	103151786	1.000000	0.71417	0.934000	0.37439	0.133000	0.20885	9.076000	0.94009	2.569000	0.86673	0.585000	0.79938	CAA		PASS	0.343	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		52	75	52	75	---	---	---	---
KCND3	3752	broad.mit.edu	37	1	112524921	112524921	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:112524921T>C	ENST00000315987.2	-	2	907	c.428A>G	c.(427-429)aAc>aGc	p.N143S	KCND3_ENST00000369697.1_Missense_Mutation_p.N143S|KCND3_ENST00000302127.4_Missense_Mutation_p.N143S	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	143					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.N143S(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CCGCTCGGCGTTCTCCCTCTT	0.622																																						uc001ebu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(427-429)AAC>AGC		potassium voltage-gated channel, Shal-related							62.0	58.0	60.0					1																	112524921		2203	4300	6503	SO:0001583	missense	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112524921T>C	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.428A>G	1.37:g.112524921T>C	ENSP00000319591:p.Asn143Ser					KCND3_uc001ebv.1_Missense_Mutation_p.N143S	p.N143S	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	2	908	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	143			Cytoplasmic (Potential).		O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	c.428A>G	CCDS843.1	.	.	.	.	.	.	.	.	.	.	T	15.77	2.932200	0.52866	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	T;T;T	0.41400	1.0;1.0;1.0	5.61	5.61	0.85477	BTB/POZ fold (2);	0.086125	0.85682	D	0.000000	T	0.38878	0.1057	M	0.86740	2.835	0.80722	D	1	B;B	0.27068	0.167;0.08	B;B	0.25405	0.06;0.036	T	0.47341	-0.9125	10	0.54805	T	0.06	.	15.466	0.75400	0.0:0.0:0.0:1.0	.	143;143	Q14D71;Q9UK17	.;KCND3_HUMAN	S	143	ENSP00000358711:N143S;ENSP00000319591:N143S;ENSP00000306923:N143S	ENSP00000306923:N143S	N	-	2	0	KCND3	112326444	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.186000	0.72026	2.139000	0.66308	0.460000	0.39030	AAC		PASS	0.622	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		28	37	28	37	---	---	---	---
HMGCS2	3158	broad.mit.edu	37	1	120296009	120296009	+	Splice_Site	SNP	G	G	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:120296009G>T	ENST00000369406.3	-	7	1237	c.1188C>A	c.(1186-1188)caC>caA	p.H396Q	HMGCS2_ENST00000476640.1_5'Flank|HMGCS2_ENST00000544913.2_Splice_Site_p.H354Q	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	396					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)	p.H396Q(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GGGCAGAGTGGCTGTGGGGAA	0.418																																						uc001eid.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1186-1188)CAC>CAA		hydroxymethylglutaryl-CoA synthase 2 isoform 1							48.0	49.0	49.0					1																	120296009		2203	4300	6503	SO:0001630	splice_region_variant	3158				acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	g.chr1:120296009G>T	BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"""			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.1188-1C>A	1.37:g.120296009G>T						HMGCS2_uc010oxj.1_Missense_Mutation_p.H354Q|HMGCS2_uc001eie.2_Missense_Mutation_p.H304Q	p.H396Q	NM_005518	NP_005509	P54868	HMCS2_HUMAN		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)	7	1239	-	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)	396					B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Missense_Mutation	SNP	ENST00000369406.3	37	c.1188C>A	CCDS905.1	.	.	.	.	.	.	.	.	.	.	G	0.628	-0.818515	0.02776	.	.	ENSG00000134240	ENST00000369406;ENST00000544913	T;T	0.75938	-0.98;-0.98	5.39	-10.8	0.00216	Hydroxymethylglutaryl-coenzyme A synthase C-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.798569	0.11444	N	0.563509	T	0.16041	0.0386	N	0.11313	0.125	0.28849	N	0.896171	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.0	T	0.02588	-1.1137	10	0.09843	T	0.71	.	5.7391	0.18083	0.0806:0.4692:0.2048:0.2454	.	354;396	B7Z8R3;P54868	.;HMCS2_HUMAN	Q	396;354	ENSP00000358414:H396Q;ENSP00000439495:H354Q	ENSP00000358414:H396Q	H	-	3	2	HMGCS2	120097532	0.000000	0.05858	0.023000	0.16930	0.044000	0.14063	-4.239000	0.00268	-4.013000	0.00082	-0.502000	0.04539	CAC		PASS	0.418	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	NM_005518	Missense_Mutation	8	12	8	12	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144886274	144886274	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:144886274G>C	ENST00000369354.3	-	23	3149	c.2960C>G	c.(2959-2961)tCt>tGt	p.S987C	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S1124C|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1124C|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S987C|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1053C			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	987					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.S987C(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGGGGAAAAAGATGGGTTCTG	0.478			T	PDGFRB	MPD																																	uc001elw.3				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - Missense(2)		lung(2)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(2959-2961)TCT>TGT		phosphodiesterase 4D interacting protein isoform							195.0	213.0	207.0					1																	144886274		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144886274G>C	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.2960C>G	1.37:g.144886274G>C	ENSP00000358360:p.Ser987Cys					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.S1053C|PDE4DIP_uc001elv.3_Translation_Start_Site	p.S987C	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	23	3251	-			987					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.2960C>G	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	7.391	0.630872	0.14322	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01804	4.63;4.72;4.72;4.72;4.72	5.04	0.72	0.18214	.	.	.	.	.	T	0.00384	0.0012	N	0.08118	0	0.09310	N	1	B;B	0.18013	0.025;0.001	B;B	0.15484	0.013;0.002	T	0.45934	-0.9227	9	0.56958	D	0.05	.	3.7046	0.08395	0.092:0.3428:0.4152:0.1499	.	1053;987	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	C	1053;987;987;1124;1124	ENSP00000327209:S1053C;ENSP00000358360:S987C;ENSP00000358363:S987C;ENSP00000435654:S1124C;ENSP00000358366:S1124C	ENSP00000327209:S1053C	S	-	2	0	PDE4DIP	143597631	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.168000	0.16622	0.283000	0.22279	0.561000	0.74099	TCT		PASS	0.478	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		27	284	27	284	---	---	---	---
MTMR11	10903	broad.mit.edu	37	1	149904192	149904192	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:149904192G>A	ENST00000439741.2	-	11	1266	c.1016C>T	c.(1015-1017)tCa>tTa	p.S339L	MTMR11_ENST00000369140.3_Missense_Mutation_p.S267L|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000406732.3_Missense_Mutation_p.S311L	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	339	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)	p.S339L(1)|p.S267L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TTCCAGGGCTGAAAGCCATTT	0.443																																						uc001etl.3																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(1015-1017)TCA>TTA		myotubularin related protein 11 isoform a							173.0	165.0	168.0					1																	149904192		2203	4300	6503	SO:0001583	missense	10903						phosphatase activity	g.chr1:149904192G>A	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.1016C>T	1.37:g.149904192G>A	ENSP00000391668:p.Ser339Leu					MTMR11_uc001etm.1_Missense_Mutation_p.S267L|MTMR11_uc010pbm.1_Missense_Mutation_p.S311L|MTMR11_uc010pbn.1_Missense_Mutation_p.S181L	p.S339L	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		11	1267	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		339			Myotubularin phosphatase.		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	ENST00000439741.2	37	c.1016C>T	CCDS53360.1	.	.	.	.	.	.	.	.	.	.	G	33	5.212719	0.95069	.	.	ENSG00000014914	ENST00000369140;ENST00000439741;ENST00000406732;ENST00000405710	D;D;D	0.93811	-3.29;-3.29;-2.68	5.28	5.28	0.74379	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.96380	0.8819	M	0.76838	2.35	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;0.996;0.999	D;D;D;D	0.85130	0.997;0.996;0.959;0.986	D	0.96516	0.9382	10	0.87932	D	0	.	17.6726	0.88222	0.0:0.0:1.0:0.0	.	181;311;267;339	F8W8W0;A4FU01-6;A4FU01-4;A4FU01	.;.;.;MTMRB_HUMAN	L	267;339;311;181	ENSP00000358136:S267L;ENSP00000391668:S339L;ENSP00000383948:S311L	ENSP00000358136:S267L	S	-	2	0	MTMR11	148170816	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.866000	0.87056	2.746000	0.94184	0.655000	0.94253	TCA		PASS	0.443	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		37	156	37	156	---	---	---	---
RORC	6097	broad.mit.edu	37	1	151787699	151787699	+	Silent	SNP	A	A	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:151787699A>T	ENST00000318247.6	-	5	608	c.501T>A	c.(499-501)ccT>ccA	p.P167P	RORC_ENST00000356728.6_Silent_p.P146P|RORC_ENST00000392697.3_Silent_p.P221P|RORC_ENST00000480719.1_5'Flank	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	167	Hinge. {ECO:0000255}.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.P167P(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGAAGCCTCAGGCAGGTCAG	0.647																																						uc001ezh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(499-501)CCT>CCA		RAR-related orphan receptor C isoform a							29.0	29.0	29.0					1																	151787699		2203	4300	6503	SO:0001819	synonymous_variant	6097				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:151787699A>T	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.501T>A	1.37:g.151787699A>T						RORC_uc001ezg.2_Silent_p.P146P|RORC_uc010pdo.1_Silent_p.P221P|RORC_uc010pdp.1_Silent_p.P167P	p.P167P	NM_005060	NP_005051	P51449	RORG_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		5	609	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		167			Hinge (Potential).		Q5SZR9|Q8N5V7|Q8NCY8	Silent	SNP	ENST00000318247.6	37	c.501T>A	CCDS1004.1																																																																																				PASS	0.647	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1			3	49	3	49	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152285056	152285056	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:152285056C>T	ENST00000368799.1	-	3	2341	c.2306G>A	c.(2305-2307)gGt>gAt	p.G769D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	769	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G769D(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGATGGTGACCAGCCTGTCC	0.567									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(2305-2307)GGT>GAT		filaggrin							355.0	335.0	342.0					1																	152285056		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285056C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2306G>A	1.37:g.152285056C>T	ENSP00000357789:p.Gly769Asp					uc001ezv.2_5'Flank	p.G769D	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2342	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		769			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.2306G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	5.163	0.215704	0.09810	.	.	ENSG00000143631	ENST00000368799	T	0.01665	4.7	2.81	-1.05	0.10036	.	.	.	.	.	T	0.00695	0.0023	M	0.77616	2.38	0.09310	N	1	P	0.45531	0.86	B	0.35607	0.206	T	0.46428	-0.9192	9	0.15066	T	0.55	.	5.0558	0.14531	0.0:0.3153:0.5253:0.1594	.	769	P20930	FILA_HUMAN	D	769	ENSP00000357789:G769D	ENSP00000357789:G769D	G	-	2	0	FLG	150551680	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.591000	0.05753	-0.024000	0.13941	-0.361000	0.07541	GGT		PASS	0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		207	277	207	277	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152323772	152323772	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:152323772G>C	ENST00000388718.5	-	3	6562	c.6490C>G	c.(6490-6492)Cag>Gag	p.Q2164E	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2164					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.Q2164E(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGTGGACTGTCCATGACCA	0.502																																						uc001ezw.3																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(6490-6492)CAG>GAG		filaggrin family member 2							358.0	319.0	332.0					1																	152323772		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152323772G>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6490C>G	1.37:g.152323772G>C	ENSP00000373370:p.Gln2164Glu					uc001ezv.2_Intron	p.Q2164E	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6563	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2164			Filaggrin 10.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.6490C>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622686	0.28889	.	.	ENSG00000143520	ENST00000388718	T	0.34667	1.35	4.08	4.08	0.47627	.	.	.	.	.	T	0.14700	0.0355	L	0.37897	1.145	0.09310	N	1	B	0.26635	0.155	B	0.33846	0.171	T	0.17077	-1.0381	9	0.15499	T	0.54	-1.3446	12.1095	0.53831	0.0:0.0:1.0:0.0	.	2164	Q5D862	FILA2_HUMAN	E	2164	ENSP00000373370:Q2164E	ENSP00000373370:Q2164E	Q	-	1	0	FLG2	150590396	0.000000	0.05858	0.008000	0.14137	0.258000	0.26162	-0.213000	0.09305	2.301000	0.77427	0.551000	0.68910	CAG		PASS	0.502	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		171	255	171	255	---	---	---	---
SLC39A1	27173	broad.mit.edu	37	1	153935025	153935025	+	Missense_Mutation	SNP	C	C	T	rs141955044		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:153935025C>T	ENST00000368623.3	-	1	926	c.167G>A	c.(166-168)gGa>gAa	p.G56E	SLC39A1_ENST00000368621.1_Missense_Mutation_p.G56E|SLC39A1_ENST00000310483.6_Missense_Mutation_p.G56E|SLC39A1_ENST00000461071.1_5'UTR|SLC39A1_ENST00000537590.1_5'UTR|SLC39A1_ENST00000356205.4_Missense_Mutation_p.G56E			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	56					cation transport (GO:0006812)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic cation transmembrane transporter activity (GO:0022890)|zinc ion transmembrane transporter activity (GO:0005385)	p.G56E(1)		kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		ATGGTTAGCTCCTGGCCGGCG	0.632																																						uc001fdh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(166-168)GGA>GAA		solute carrier family 39 (zinc transporter),							38.0	44.0	42.0					1																	153935025		2203	4300	6503	SO:0001583	missense	27173					endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity	g.chr1:153935025C>T	BC007886	CCDS1055.1, CCDS72920.1	1q21	2013-05-22		2002-02-15	ENSG00000143570	ENSG00000143570		"""Solute carriers"""	12876	protein-coding gene	gene with protein product		604740	"""zinc/iron regulated transporter-like"""	ZIRTL		10610721, 10681536	Standard	NM_014437		Approved	ZIP1	uc031ppi.1	Q9NY26	OTTHUMG00000037158	ENST00000368623.3:c.167G>A	1.37:g.153935025C>T	ENSP00000357612:p.Gly56Glu					SLC39A1_uc001fdi.2_Missense_Mutation_p.G56E|SLC39A1_uc001fdj.2_Missense_Mutation_p.G56E|SLC39A1_uc001fdk.2_Missense_Mutation_p.G56E|SLC39A1_uc010pee.1_5'UTR|SLC39A1_uc001fdl.2_Missense_Mutation_p.G56E	p.G56E	NM_014437	NP_055252	Q9NY26	S39A1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)	2	336	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		56			Cytoplasmic (Potential).		B4DDY7|Q5T4K1|Q8N2H7|Q9BTV0|Q9UBI7|Q9Y2Z7|Q9Y380	Missense_Mutation	SNP	ENST00000368623.3	37	c.167G>A	CCDS1055.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.476261	0.84640	.	.	ENSG00000143570	ENST00000356205;ENST00000368623;ENST00000368621;ENST00000310483;ENST00000543075;ENST00000429040;ENST00000413622;ENST00000417348	T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.64	5.64	0.86602	.	0.071089	0.51477	D	0.000084	T	0.16041	0.0386	L	0.36672	1.1	0.80722	D	1	B	0.33000	0.393	B	0.31101	0.124	T	0.05517	-1.0880	10	0.02654	T	1	-8.8382	17.1941	0.86887	0.0:1.0:0.0:0.0	.	56	Q9NY26	S39A1_HUMAN	E	56;56;56;56;45;56;56;56	ENSP00000348535:G56E;ENSP00000357612:G56E;ENSP00000357610:G56E;ENSP00000309710:G56E;ENSP00000392950:G56E;ENSP00000392229:G56E;ENSP00000407717:G56E	ENSP00000309710:G56E	G	-	2	0	SLC39A1	152201649	0.073000	0.21202	0.207000	0.23584	0.074000	0.17049	2.783000	0.47766	2.657000	0.90304	0.655000	0.94253	GGA		PASS	0.632	SLC39A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090284.1	NM_014437		8	20	8	20	---	---	---	---
GON4L	54856	broad.mit.edu	37	1	155730294	155730294	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:155730294G>A	ENST00000368331.1	-	24	5098	c.5050C>T	c.(5050-5052)Cag>Tag	p.Q1684*	GON4L_ENST00000437809.1_Nonsense_Mutation_p.Q1684*|GON4L_ENST00000271883.5_Nonsense_Mutation_p.Q1684*	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1684	PAH 1. {ECO:0000255|PROSITE- ProRule:PRU00810}.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Q1684*(2)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTCAACAGCTGAGGCCAGTCT	0.468																																						uc001flz.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)	3						c.(5050-5052)CAG>TAG		gon-4-like isoform a							101.0	98.0	99.0					1																	155730294		1876	4104	5980	SO:0001587	stop_gained	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155730294G>A	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.5050C>T	1.37:g.155730294G>A	ENSP00000357315:p.Gln1684*					GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Nonsense_Mutation_p.Q1684*|GON4L_uc009wrh.1_Nonsense_Mutation_p.Q1684*|GON4L_uc001fma.1_Nonsense_Mutation_p.Q1684*|GON4L_uc001fmb.3_Nonsense_Mutation_p.Q880*	p.Q1684*	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN			24	5147	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		1684			PAH 1.		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Nonsense_Mutation	SNP	ENST00000368331.1	37	c.5050C>T		.	.	.	.	.	.	.	.	.	.	G	45	11.443973	0.99562	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	.	.	.	5.34	5.34	0.76211	.	0.074625	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.8345	0.92155	0.0:0.0:1.0:0.0	.	.	.	.	X	1684	.	ENSP00000271883:Q1684X	Q	-	1	0	GON4L	153996918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.781000	0.75068	2.765000	0.95021	0.650000	0.86243	CAG		PASS	0.468	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		22	95	22	95	---	---	---	---
ACKR1	2532	broad.mit.edu	37	1	159175317	159175317	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:159175317T>C	ENST00000368122.2	+	2	767	c.88T>C	c.(88-90)Tat>Cat	p.Y30H	CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000368121.2_Missense_Mutation_p.Y32H|DARC_ENST00000537147.1_Missense_Mutation_p.Y30H	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		30					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.Y32H(1)|p.Y32N(1)		large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GAATTCTTCCTATGGTGTGAA	0.542																																						uc001fto.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(88-90)TAT>CAT		Duffy blood group antigen isoform b							92.0	89.0	90.0					1																	159175317		2203	4300	6503	SO:0001583	missense	2532				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	g.chr1:159175317T>C																												ENST00000368122.2:c.88T>C	1.37:g.159175317T>C	ENSP00000357104:p.Tyr30His					DARC_uc001ftp.3_Missense_Mutation_p.Y32H	p.Y30H	NM_002036	NP_002027	Q16570	DUFFY_HUMAN			2	328	+	all_hematologic(112;0.0429)		30			Extracellular (Potential).		A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Missense_Mutation	SNP	ENST00000368122.2	37	c.88T>C	CCDS1183.1	.	.	.	.	.	.	.	.	.	.	T	12.85	2.061623	0.36373	.	.	ENSG00000213088	ENST00000368122;ENST00000537147;ENST00000359381;ENST00000435307;ENST00000368121	T;T;T;T	0.26660	4.22;4.22;1.72;4.15	3.07	-0.579	0.11720	.	.	.	.	.	T	0.14356	0.0347	L	0.27053	0.805	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.69824	0.966;0.951	T	0.05818	-1.0862	9	0.44086	T	0.13	-8.4514	3.8966	0.09143	0.1753:0.0:0.4036:0.4212	.	32;30	Q5Y7A1;Q16570	.;DUFFY_HUMAN	H	30;30;30;32;32	ENSP00000357104:Y30H;ENSP00000441985:Y30H;ENSP00000398406:Y32H;ENSP00000357103:Y32H	ENSP00000352341:Y30H	Y	+	1	0	DARC	157441941	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.729000	0.04920	-0.107000	0.12088	-0.396000	0.06452	TAT		PASS	0.542	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			22	62	22	62	---	---	---	---
ATP1A2	477	broad.mit.edu	37	1	160109762	160109762	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:160109762C>T	ENST00000361216.3	+	22	3111	c.3022C>T	c.(3022-3024)Cgg>Tgg	p.R1008W	ATP1A2_ENST00000459972.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.R997W	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	1008					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.R1008W(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CATCCTGCGGCGGTATCCTGG	0.582																																						uc001fvc.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(2)|skin(2)	7						c.(3022-3024)CGG>TGG		Na+/K+ -ATPase alpha 2 subunit proprotein							118.0	106.0	110.0					1																	160109762		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160109762C>T	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.3022C>T	1.37:g.160109762C>T	ENSP00000354490:p.Arg1008Trp					ATP1A2_uc001fvd.2_Missense_Mutation_p.R727W	p.R1008W	NM_000702	NP_000693	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		22	3154	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		1008			Cytoplasmic (Potential).		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.3022C>T	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936443	0.73442	.	.	ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866	D;D	0.90197	-2.63;-2.63	4.37	2.4	0.29515	ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.94647	0.8274	H	0.95004	3.61	0.58432	D	0.999999	D;D	0.69078	0.997;0.988	D;P	0.63283	0.913;0.647	D	0.94745	0.7922	10	0.87932	D	0	.	11.2818	0.49199	0.2892:0.7108:0.0:0.0	.	908;1008	F5GXJ7;P50993	.;AT1A2_HUMAN	W	1008;997;711	ENSP00000354490:R1008W;ENSP00000376066:R997W	ENSP00000354490:R1008W	R	+	1	2	ATP1A2	158376386	0.906000	0.30813	0.996000	0.52242	0.934000	0.57294	1.874000	0.39568	0.528000	0.28580	0.655000	0.94253	CGG		PASS	0.582	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		57	85	57	85	---	---	---	---
TBX19	9095	broad.mit.edu	37	1	168260473	168260473	+	Silent	SNP	T	T	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:168260473T>C	ENST00000367821.3	+	2	330	c.279T>C	c.(277-279)ttT>ttC	p.F93F		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	93					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F93F(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TGCTGGACTTTGTCCCTACGG	0.552																																						uc001gfl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(277-279)TTT>TTC		T-box 19							127.0	114.0	118.0					1																	168260473		2203	4300	6503	SO:0001819	synonymous_variant	9095				anatomical structure morphogenesis	nucleus	DNA binding	g.chr1:168260473T>C	AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"""T-boxes"""	11596	protein-coding gene	gene with protein product	"""TBS 19"""	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.279T>C	1.37:g.168260473T>C						TBX19_uc001gfj.3_Silent_p.F24F	p.F93F	NM_005149	NP_005140	O60806	TBX19_HUMAN			2	330	+	all_hematologic(923;0.215)		93			T-box.		Q52M53	Silent	SNP	ENST00000367821.3	37	c.279T>C	CCDS1272.1	.	.	.	.	.	.	.	.	.	.	T	10.06	1.246353	0.22796	.	.	ENSG00000143178	ENST00000431969	.	.	.	4.99	-0.605	0.11623	.	.	.	.	.	T	0.30603	0.0770	.	.	.	.	.	.	.	.	.	.	.	.	T	0.16837	-1.0389	3	.	.	.	.	10.1024	0.42513	0.0:0.3905:0.0:0.6095	.	.	.	.	R	26	.	.	C	+	1	0	TBX19	166527097	0.758000	0.28405	0.998000	0.56505	0.974000	0.67602	-0.176000	0.09811	-0.006000	0.14370	0.533000	0.62120	TGT		PASS	0.552	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	NM_005149		87	125	87	125	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175097272	175097272	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:175097272C>A	ENST00000239462.4	+	14	3263	c.3150C>A	c.(3148-3150)agC>agA	p.S1050R		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1050	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.S1050R(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTCGCCGGAGCAGAAATGTAT	0.557																																						uc001gkl.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(3148-3150)AGC>AGA		tenascin N precursor							82.0	73.0	76.0					1																	175097272		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175097272C>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3150C>A	1.37:g.175097272C>A	ENSP00000239462:p.Ser1050Arg						p.S1050R	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	14	3263	+		Breast(1374;0.000962)	1050			Fibronectin type-III 9.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.3150C>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637450	0.67130	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.27720	1.65	5.78	5.78	0.91487	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67859	0.2938	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.74878	-0.3514	10	0.56958	D	0.05	.	19.6093	0.95599	0.0:1.0:0.0:0.0	.	1050	Q9UQP3	TENN_HUMAN	R	1050;873	ENSP00000239462:S1050R	ENSP00000239462:S1050R	S	+	3	2	TNN	173363895	1.000000	0.71417	0.988000	0.46212	0.431000	0.31685	1.459000	0.35234	2.740000	0.93945	0.313000	0.20887	AGC		PASS	0.557	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		20	42	20	42	---	---	---	---
DHX9	1660	broad.mit.edu	37	1	182812436	182812436	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:182812436T>G	ENST00000367549.3	+	3	229	c.119T>G	c.(118-120)gTg>gGg	p.V40G		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	40	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Interaction with CREBBP.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)	p.V40G(8)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AAGGTTCAGGTGGAAGGTTAT	0.333																																					Colon(69;210 1162 3697 13559 39565)	uc001gpr.2																			8	Substitution - Missense(8)		lung(5)|endometrium(1)|kidney(1)|central_nervous_system(1)	ovary(2)	2						c.(118-120)GTG>GGG		DEAH (Asp-Glu-Ala-His) box polypeptide 9							54.0	51.0	52.0					1																	182812436		1803	4059	5862	SO:0001583	missense	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182812436T>G	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.119T>G	1.37:g.182812436T>G	ENSP00000356520:p.Val40Gly					DHX9_uc001gps.2_5'UTR	p.V40G	NM_001357	NP_001348	Q08211	DHX9_HUMAN			3	282	+			40			DRBM 1.|Interaction with CREBBP.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.119T>G	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303744	0.81136	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	D	0.81996	-1.56	5.63	5.63	0.86233	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.93255	0.7851	M	0.94142	3.5	0.80722	D	1	D	0.67145	0.996	D	0.70716	0.97	D	0.94934	0.8085	10	0.87932	D	0	.	15.1117	0.72362	0.0:0.0:0.0:1.0	.	40	Q08211	DHX9_HUMAN	G	40	ENSP00000356520:V40G	ENSP00000356520:V40G	V	+	2	0	DHX9	181079059	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.285000	0.78660	2.263000	0.75096	0.533000	0.62120	GTG		PASS	0.333	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		8	43	8	43	---	---	---	---
DHX9	1660	broad.mit.edu	37	1	182847165	182847165	+	Silent	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:182847165G>A	ENST00000367549.3	+	20	2318	c.2208G>A	c.(2206-2208)gtG>gtA	p.V736V	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	736	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)	p.V736V(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GGCAGAAAGTGAAACTCTTCA	0.403																																					Colon(69;210 1162 3697 13559 39565)	uc001gpr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2206-2208)GTG>GTA		DEAH (Asp-Glu-Ala-His) box polypeptide 9							68.0	62.0	64.0					1																	182847165		1914	4123	6037	SO:0001819	synonymous_variant	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182847165G>A	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.2208G>A	1.37:g.182847165G>A						DHX9_uc001gps.2_Silent_p.V522V|DHX9_uc001gpt.2_Silent_p.V15V	p.V736V	NM_001357	NP_001348	Q08211	DHX9_HUMAN			20	2371	+			736			Helicase C-terminal.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Silent	SNP	ENST00000367549.3	37	c.2208G>A	CCDS41444.1																																																																																				PASS	0.403	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		9	40	9	40	---	---	---	---
FAM58BP	339521	broad.mit.edu	37	1	200183003	200183003	+	IGR	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:200183003C>A								NR5A2 (36451 upstream) : RP11-532L16.3 (101559 downstream)																							CCAACAGGTACTTCAACCCAA	0.557																																						uc009wzi.1																			0					0						c.(310-312)TAC>TAA		family with sequence similarity 58 member B							108.0	110.0	109.0					1																	200183003		2203	4300	6503	SO:0001628	intergenic_variant	339521				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding	g.chr1:200183003C>A																													1.37:g.200183003C>A							p.Y104*	NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN			1	348	+	Prostate(682;0.19)		104						Nonsense_Mutation	SNP		37	c.312C>A																																																																																				0	PASS	0.557									71	121	71	121	---	---	---	---
PPFIA4	8497	broad.mit.edu	37	1	203026006	203026006	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:203026006A>G	ENST00000447715.2	+	24	2710	c.2269A>G	c.(2269-2271)Att>Gtt	p.I757V	PPFIA4_ENST00000295706.4_Missense_Mutation_p.I273V|PPFIA4_ENST00000414050.2_Missense_Mutation_p.I486V|PPFIA4_ENST00000599966.1_Missense_Mutation_p.I273V|PPFIA4_ENST00000367240.2_Missense_Mutation_p.I758V|PPFIA4_ENST00000272198.6_Missense_Mutation_p.I273V			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	757					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)		p.I273V(1)|p.I904V(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CAAGTCGTCCATTGGCCGCCT	0.612																																						uc001gyz.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(817-819)ATT>GTT		protein tyrosine phosphatase, receptor type, f							51.0	58.0	55.0					1																	203026006		2158	4275	6433	SO:0001583	missense	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203026006A>G	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.2269A>G	1.37:g.203026006A>G	ENSP00000402576:p.Ile757Val					PPFIA4_uc009xaj.2_Missense_Mutation_p.I904V|PPFIA4_uc010pqf.1_Missense_Mutation_p.I486V|PPFIA4_uc001gza.2_Missense_Mutation_p.I273V|PPFIA4_uc001gzb.1_5'UTR	p.I273V	NM_015053	NP_055868	O75335	LIPA4_HUMAN			6	1410	+			273					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37	c.817A>G		.	.	.	.	.	.	.	.	.	.	a	27.9	4.873980	0.91664	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81	5.19	5.19	0.71726	.	0.000000	0.45867	D	0.000327	T	0.53367	0.1792	M	0.82323	2.585	0.58432	D	0.999999	D;P;P;B	0.59767	0.986;0.941;0.638;0.199	D;P;P;B	0.67382	0.951;0.593;0.486;0.069	T	0.60475	-0.7256	10	0.72032	D	0.01	-20.3988	15.2227	0.73327	1.0:0.0:0.0:0.0	.	486;757;273;273	B4DIS5;B1N949;O75335-2;O75335	.;.;.;LIPA4_HUMAN	V	758;757;273;486;273	ENSP00000356209:I758V;ENSP00000402576:I757V;ENSP00000295706:I273V;ENSP00000400379:I486V;ENSP00000272198:I273V	ENSP00000272198:I273V	I	+	1	0	PPFIA4	201292629	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.911000	0.69939	2.178000	0.69098	0.529000	0.55759	ATT		PASS	0.612	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		22	50	22	50	---	---	---	---
PPP1R15B	84919	broad.mit.edu	37	1	204379802	204379802	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:204379802C>A	ENST00000367188.4	-	1	1117	c.738G>T	c.(736-738)gaG>gaT	p.E246D	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	246					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)	p.E246D(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			AGCCGACTACCTCGCTATTTC	0.522																																						uc001hav.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(736-738)GAG>GAT		protein phosphatase 1, regulatory subunit 15B							93.0	90.0	91.0					1																	204379802		2203	4300	6503	SO:0001583	missense	84919				regulation of translation			g.chr1:204379802C>A	AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14951	protein-coding gene	gene with protein product		613257	"""protein phosphatase 1, regulatory (inhibitor) subunit 15B"""			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.738G>T	1.37:g.204379802C>A	ENSP00000356156:p.Glu246Asp						p.E246D	NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)		1	1143	-	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		246					Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	ENST00000367188.4	37	c.738G>T	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.391046	0.25118	.	.	ENSG00000158615	ENST00000367188;ENST00000543650	T	0.19105	2.17	5.2	0.907	0.19321	Protein phosphatase 1, regulatory subunit 15B, N-terminal (1);	0.725113	0.11963	N	0.512509	T	0.10165	0.0249	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.33854	-0.9852	10	0.23891	T	0.37	-1.3408	1.9849	0.03434	0.1605:0.506:0.1558:0.1777	.	246	Q5SWA1	PR15B_HUMAN	D	246;156	ENSP00000356156:E246D	ENSP00000356156:E246D	E	-	3	2	PPP1R15B	202646425	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.035000	0.12205	0.187000	0.20147	-0.152000	0.13540	GAG		PASS	0.522	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833		22	147	22	147	---	---	---	---
TMEM206	55248	broad.mit.edu	37	1	212538573	212538573	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:212538573G>A	ENST00000261455.4	-	8	1174	c.1037C>T	c.(1036-1038)aCg>aTg	p.T346M	TMEM206_ENST00000535273.1_Missense_Mutation_p.T407M	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	346						cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.T346M(1)		breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		TATGTGGCTCGTTGCCTGACC	0.413																																						uc001hjc.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1036-1038)ACG>ATG		transmembrane protein 206							217.0	201.0	207.0					1																	212538573		2203	4300	6503	SO:0001583	missense	55248					integral to membrane		g.chr1:212538573G>A	AK024066	CCDS1504.1, CCDS55687.1	1q32.3	2008-02-05	2008-01-17	2008-01-17	ENSG00000065600	ENSG00000065600			25593	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 75"""	C1orf75		12477932	Standard	NM_018252		Approved	FLJ10874	uc010pte.2	Q9H813	OTTHUMG00000036751	ENST00000261455.4:c.1037C>T	1.37:g.212538573G>A	ENSP00000261455:p.Thr346Met					TMEM206_uc010pte.1_Missense_Mutation_p.T407M	p.T346M	NM_018252	NP_060722	Q9H813	TM206_HUMAN		all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)	8	1205	-			346			Cytoplasmic (Potential).		B7Z4D6|Q6IA87|Q9NV85	Missense_Mutation	SNP	ENST00000261455.4	37	c.1037C>T	CCDS1504.1	.	.	.	.	.	.	.	.	.	.	G	9.888	1.203482	0.22121	.	.	ENSG00000065600	ENST00000261455;ENST00000535273	.	.	.	5.91	4.02	0.46733	.	0.358897	0.30101	N	0.010415	T	0.16981	0.0408	N	0.08118	0	0.09310	N	1	B;B	0.18968	0.032;0.01	B;B	0.13407	0.009;0.006	T	0.13442	-1.0509	9	0.37606	T	0.19	-4.1953	5.8653	0.18771	0.2443:0.0:0.6222:0.1335	.	407;346	B7Z4D6;Q9H813	.;TM206_HUMAN	M	346;407	.	ENSP00000261455:T346M	T	-	2	0	TMEM206	210605196	0.988000	0.35896	0.029000	0.17559	0.775000	0.43874	4.181000	0.58303	0.809000	0.34255	0.650000	0.86243	ACG		PASS	0.413	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089306.1	NM_018252		9	180	9	180	---	---	---	---
PTPN14	5784	broad.mit.edu	37	1	214567092	214567092	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:214567092G>T	ENST00000366956.5	-	10	1069	c.875C>A	c.(874-876)tCt>tAt	p.S292Y	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	292	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.S292Y(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		AAACAACCGAGAAATATACTT	0.333																																					Colon(92;557 1424 24372 34121 40073)	uc001hkk.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|kidney(1)|skin(1)	5						c.(874-876)TCT>TAT		protein tyrosine phosphatase, non-receptor type							88.0	93.0	91.0					1																	214567092		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214567092G>T	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.875C>A	1.37:g.214567092G>T	ENSP00000355923:p.Ser292Tyr					PTPN14_uc010pty.1_Missense_Mutation_p.S193Y	p.S292Y	NM_005401	NP_005392	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	10	1146	-			292			FERM.		Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.875C>A	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145132	0.57044	.	.	ENSG00000152104	ENST00000366956	D	0.86694	-2.16	5.78	5.78	0.91487	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.121036	0.56097	D	0.000023	D	0.86940	0.6054	L	0.36672	1.1	0.80722	D	1	P	0.45634	0.863	P	0.47206	0.541	D	0.87806	0.2628	10	0.72032	D	0.01	.	20.0124	0.97464	0.0:0.0:1.0:0.0	.	292	Q15678	PTN14_HUMAN	Y	292	ENSP00000355923:S292Y	ENSP00000355923:S292Y	S	-	2	0	PTPN14	212633715	1.000000	0.71417	0.140000	0.22221	0.547000	0.35210	4.220000	0.58567	2.749000	0.94314	0.655000	0.94253	TCT		PASS	0.333	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		24	79	24	79	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228559483	228559483	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:228559483C>T	ENST00000422127.1	+	94	21048	c.21004C>T	c.(21004-21006)Cag>Tag	p.Q7002*	OBSCN_ENST00000570156.2_Nonsense_Mutation_p.Q7959*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.Q4636*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7002	Pro-rich.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.Q7714*(1)|p.Q7584*(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGGCACCCTCAGGGCTCCAA	0.706																																						uc009xez.1																			2	Substitution - Nonsense(2)		lung(2)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(21004-21006)CAG>TAG		obscurin, cytoskeletal calmodulin and							18.0	21.0	20.0					1																	228559483		1896	4040	5936	SO:0001587	stop_gained	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228559483C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.21004C>T	1.37:g.228559483C>T	ENSP00000409493:p.Gln7002*					OBSCN_uc001hsr.1_Nonsense_Mutation_p.Q1631*	p.Q7002*	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			94	21048	+		Prostate(94;0.0405)	7002			Pro-rich.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	ENST00000422127.1	37	c.21004C>T	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	64|64	83.991654|83.991654	0.99995|0.99995	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000422127;ENST00000366707|ENST00000441106	.|.	.|.	.|.	4.54|4.54	-2.69|-2.69	0.06022|0.06022	.|.	.|.	.|.	.|.	.|.	.|T	.|0.30823	.|0.0777	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.35895	.|-0.9770	.|4	0.09338|.	T|.	0.73|.	.|.	8.5512|8.5512	0.33453|0.33453	0.2952:0.2938:0.4109:0.0|0.2952:0.2938:0.4109:0.0	.|.	.|.	.|.	.|.	X|L	7002;4636|1618	.|.	ENSP00000355668:Q4636X|.	Q|S	+|+	1|2	0|0	OBSCN|OBSCN	226626106|226626106	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.030000|0.030000	0.12068|0.12068	-0.594000|-0.594000	0.05733|0.05733	-0.310000|-0.310000	0.08766|0.08766	0.555000|0.555000	0.69702|0.69702	CAG|TCA		PASS	0.706	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		14	48	14	48	---	---	---	---
MAP10	54627	broad.mit.edu	37	1	232942054	232942054	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:232942054G>C	ENST00000418460.1	+	1	1412	c.1285G>C	c.(1285-1287)Gag>Cag	p.E429Q		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	287					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)	p.E429Q(2)									CTCCCTAAATGAGGAAGTCAC	0.448																																						uc001hvh.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1285-1287)GAG>CAG		hypothetical protein LOC54627							240.0	246.0	244.0					1																	232942054		1940	4132	6072	SO:0001583	missense	54627							g.chr1:232942054G>C	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.1285G>C	1.37:g.232942054G>C	ENSP00000403208:p.Glu429Gln						p.E429Q	NM_019090	NP_061963	Q9P2G4	K1383_HUMAN			1	1417	+		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)	287					A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	c.1285G>C	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	G	0.769	-0.766536	0.02974	.	.	ENSG00000212916	ENST00000418460	.	.	.	5.93	0.682	0.17992	.	0.372323	0.19814	N	0.105461	T	0.06280	0.0162	N	0.00170	-1.935	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.40757	-0.9546	9	0.09590	T	0.72	-0.0163	11.925	0.52814	0.1978:0.2539:0.5483:0.0	.	287	Q9P2G4	K1383_HUMAN	Q	429	.	ENSP00000403208:E429Q	E	+	1	0	KIAA1383	231008677	0.036000	0.19791	0.000000	0.03702	0.001000	0.01503	0.242000	0.18087	-0.115000	0.11915	-0.137000	0.14449	GAG		PASS	0.448	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		14	274	14	274	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237732556	237732557	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:237732556_237732557GG>TT	ENST00000366574.2	+	29	3852_3853	c.3535_3536GG>TT	c.(3535-3537)GGt>TTt	p.G1179F	RYR2_ENST00000542537.1_Missense_Mutation_p.G1163F|RYR2_ENST00000360064.6_Missense_Mutation_p.G1177F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1179	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.G1177F(1)|p.G1177C(1)|p.G1177V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CACACTGAATGGTGAAATCCTT	0.446																																						uc001hyl.1																			3	Substitution - Missense(3)		lung(3)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(3535-3537)GGT>TGT|c.(3535-3537)GGT>GTT		cardiac muscle ryanodine receptor																																				SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237732556G>T|g.chr1:237732557G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	Exception_encountered	1.37:g.237732556_237732557delinsTT	ENSP00000355533:p.Gly1179Phe						p.G1179C|p.G1179V	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		29	3655|3656	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1179			Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3535G>T|c.3536G>T	CCDS55691.1																																																																																				PASS	0.446	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		13	31	13	31	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237935345	237935345	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:237935345A>G	ENST00000366574.2	+	86	11908	c.11591A>G	c.(11590-11592)aAt>aGt	p.N3864S	RYR2_ENST00000542537.1_Missense_Mutation_p.N3848S|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.N3870S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3864					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.N3862S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGACTGGCAATAATACAACT	0.333																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(11590-11592)AAT>AGT		cardiac muscle ryanodine receptor							64.0	59.0	61.0					1																	237935345		1814	4077	5891	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237935345A>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11591A>G	1.37:g.237935345A>G	ENSP00000355533:p.Asn3864Ser					RYR2_uc010pya.1_Missense_Mutation_p.N279S	p.N3864S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		86	11711	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3864					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.11591A>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.623928	0.87460	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.94931	-3.56;-3.56;-3.56	5.8	5.8	0.92144	RyR/IP3R Homology associated domain (1);	0.000000	0.64402	U	0.000005	D	0.96144	0.8743	L	0.58302	1.8	0.80722	D	1	D;P	0.64830	0.994;0.926	D;P	0.64144	0.922;0.73	D	0.96183	0.9132	10	0.54805	T	0.06	-23.4666	16.1477	0.81583	1.0:0.0:0.0:0.0	.	838;3864	B4DGV4;Q92736	.;RYR2_HUMAN	S	3864;3870;3848;838	ENSP00000355533:N3864S;ENSP00000353174:N3870S;ENSP00000443798:N3848S	ENSP00000353174:N3870S	N	+	2	0	RYR2	236001968	1.000000	0.71417	0.971000	0.41717	0.998000	0.95712	9.287000	0.95975	2.226000	0.72624	0.523000	0.50628	AAT		PASS	0.333	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		3	8	3	8	---	---	---	---
OPN3	23596	broad.mit.edu	37	1	241761284	241761284	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:241761284C>G	ENST00000366554.2	-	3	815	c.709G>C	c.(709-711)Gat>Cat	p.D237H	OPN3_ENST00000469376.1_5'UTR|OPN3_ENST00000331838.5_Missense_Mutation_p.D158H	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	237					detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.D237H(1)		endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GTCTGAAGATCTTCCACACAA	0.353																																						uc001hza.2																			1	Substitution - Missense(1)		lung(1)		0						c.(709-711)GAT>CAT		opsin 3							56.0	58.0	58.0					1																	241761284		2203	4300	6503	SO:0001583	missense	23596				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity	g.chr1:241761284C>G	AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"""GPCR / Class A : Opsin receptors"""	14007	protein-coding gene	gene with protein product	"""panopsin"", ""protein phosphatase 1, regulatory subunit 116"""	606695	"""encephalopsin"""	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691	ENST00000366554.2:c.709G>C	1.37:g.241761284C>G	ENSP00000355512:p.Asp237His					OPN3_uc001hzb.2_RNA|OPN3_uc001hzc.2_RNA	p.D237H	NM_014322	NP_055137	Q9H1Y3	OPN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		3	854	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	237			Cytoplasmic (Potential).		Q8IX08|Q9Y344	Missense_Mutation	SNP	ENST00000366554.2	37	c.709G>C	CCDS31072.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558327	0.65538	.	.	ENSG00000054277	ENST00000366554;ENST00000331838	T;T	0.63096	1.17;-0.02	4.55	4.55	0.56014	GPCR, rhodopsin-like superfamily (1);	1.014090	0.07909	N	0.973894	T	0.69477	0.3115	L	0.49571	1.57	0.58432	D	0.999998	D	0.54397	0.966	P	0.55161	0.77	T	0.62651	-0.6809	10	0.49607	T	0.09	.	10.9139	0.47124	0.0:0.9121:0.0:0.0879	.	237	Q9H1Y3	OPN3_HUMAN	H	237;158	ENSP00000355512:D237H;ENSP00000328018:D158H	ENSP00000328018:D158H	D	-	1	0	OPN3	239827907	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.004000	0.63966	2.236000	0.73375	0.655000	0.94253	GAT		PASS	0.353	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	NM_014322		13	22	13	22	---	---	---	---
EXO1	9156	broad.mit.edu	37	1	242042219	242042219	+	Silent	SNP	T	T	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:242042219T>C	ENST00000366548.3	+	13	2276	c.1683T>C	c.(1681-1683)gaT>gaC	p.D561D	EXO1_ENST00000348581.5_Silent_p.D561D|EXO1_ENST00000518483.1_Silent_p.D561D	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	561					DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)	p.D561D(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			ATTCAAGTGATGACATTCCGA	0.403								Editing and processing nucleases																														uc001hzh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|skin(1)	5						c.(1681-1683)GAT>GAC	Direct_reversal_of_damage|Editing_and_processing_nucleases	exonuclease 1 isoform b							145.0	134.0	138.0					1																	242042219		2203	4300	6503	SO:0001819	synonymous_variant	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242042219T>C	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1683T>C	1.37:g.242042219T>C						EXO1_uc001hzi.2_Silent_p.D561D|EXO1_uc001hzj.2_Silent_p.D561D|EXO1_uc009xgq.2_Silent_p.D560D	p.D561D	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		13	2223	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	561					O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Silent	SNP	ENST00000366548.3	37	c.1683T>C	CCDS1620.1																																																																																				PASS	0.403	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		37	47	37	47	---	---	---	---
AHCTF1	25909	broad.mit.edu	37	1	247006029	247006029	+	Missense_Mutation	SNP	C	C	A	rs371546935		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:247006029C>A	ENST00000391829.2	-	35	6698	c.6575G>T	c.(6574-6576)cGa>cTa	p.R2192L	AHCTF1_ENST00000366508.1_Missense_Mutation_p.R2227L|AHCTF1_ENST00000326225.3_Missense_Mutation_p.R2201L|AHCTF1_ENST00000470300.1_Intron			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2192	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R2192Q(1)|p.R2192L(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CGTCCTGATTCGTTTCGCTTT	0.373																																					Colon(145;197 1800 4745 15099 26333)	uc001ibu.1																			2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(5)|skin(2)	7						c.(6574-6576)CGA>CTA		transcription factor ELYS		C	LEU/ARG	1,4405	2.1+/-5.4	0,1,2202	205.0	189.0	194.0		6602	4.0	0.0	1		194	0,8600	1.2+/-3.3	0,0,4300	no	missense	AHCTF1	NM_015446.4	102	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	benign	2201/2276	247006029	1,13005	2203	4300	6503	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247006029C>A		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.6575G>T	1.37:g.247006029C>A	ENSP00000375705:p.Arg2192Leu					AHCTF1_uc001ibv.1_Missense_Mutation_p.R2201L|AHCTF1_uc009xgs.1_Intron	p.R2192L	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		34	6582	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	2192			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.6575G>T		.	.	.	.	.	.	.	.	.	.	C	8.751	0.921271	0.17982	2.27E-4	0.0	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.51325	0.73;0.71;0.72	4.92	4.0	0.46444	.	0.177848	0.39210	N	0.001430	T	0.40767	0.1130	L	0.50333	1.59	0.18873	N	0.999982	P;B	0.36438	0.553;0.418	B;B	0.35114	0.196;0.096	T	0.21861	-1.0233	10	0.27082	T	0.32	-6.0746	12.8495	0.57850	0.0:0.8245:0.1755:0.0	.	2227;2192	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	L	2227;2201;2192	ENSP00000355464:R2227L;ENSP00000355465:R2201L;ENSP00000375705:R2192L	ENSP00000355465:R2201L	R	-	2	0	AHCTF1	245072652	0.456000	0.25744	0.003000	0.11579	0.001000	0.01503	0.843000	0.27640	1.185000	0.42971	0.591000	0.81541	CGA		PASS	0.373	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		8	240	8	240	---	---	---	---
OR2G2	81470	broad.mit.edu	37	1	247752529	247752529	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr1:247752529C>G	ENST00000320065.1	+	1	868	c.868C>G	c.(868-870)Cct>Gct	p.P290A	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P290A(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CATGCTTAACCCTCTTATTTA	0.403																																						uc010pyy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(868-870)CCT>GCT		olfactory receptor, family 2, subfamily G,							113.0	117.0	116.0					1																	247752529		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752529C>G	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.868C>G	1.37:g.247752529C>G	ENSP00000326349:p.Pro290Ala						p.P290A	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	868	+	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)		290			Helical; Name=7; (Potential).		Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.868C>G	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.384573	0.42308	.	.	ENSG00000177489	ENST00000320065	T	0.63255	-0.03	4.29	3.35	0.38373	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37219	U	0.002195	T	0.81969	0.4935	M	0.92077	3.27	0.29305	N	0.868438	D	0.89917	1.0	D	0.91635	0.999	T	0.79235	-0.1887	10	0.87932	D	0	.	11.6993	0.51560	0.0:0.8194:0.1806:0.0	.	290	Q8NGZ5	OR2G2_HUMAN	A	290	ENSP00000326349:P290A	ENSP00000326349:P290A	P	+	1	0	OR2G2	245819152	0.797000	0.28877	0.210000	0.23637	0.394000	0.30568	2.345000	0.44018	0.966000	0.38159	0.591000	0.81541	CCT		PASS	0.403	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			56	141	56	141	---	---	---	---
RSAD2	91543	broad.mit.edu	37	2	7023640	7023640	+	Missense_Mutation	SNP	G	G	A	rs568401913		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr2:7023640G>A	ENST00000382040.3	+	2	621	c.485G>A	c.(484-486)cGg>cAg	p.R162Q	RSAD2_ENST00000541728.1_Missense_Mutation_p.R55Q	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2									p.R162Q(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		AGCCTGATCCGGGAGAGGTGG	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		16721	0.001		0.0	False		,,,				2504	0.0					uc002qyp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(484-486)CGG>CAG		radical S-adenosyl methionine domain containing							104.0	93.0	97.0					2																	7023640		2203	4300	6503	SO:0001583	missense	91543				defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	g.chr2:7023640G>A	AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.485G>A	2.37:g.7023640G>A	ENSP00000371471:p.Arg162Gln						p.R162Q	NM_080657	NP_542388	Q8WXG1	RSAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.191)	2	621	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		162						Missense_Mutation	SNP	ENST00000382040.3	37	c.485G>A	CCDS1656.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524453	0.44969	.	.	ENSG00000134321	ENST00000442639;ENST00000382040;ENST00000541728	T;T;T	0.80480	-1.38;-1.38;-1.38	5.93	5.05	0.67936	Elongator protein 3/MiaB/NifB (1);Radical SAM (1);	0.208574	0.49305	D	0.000147	T	0.69842	0.3156	L	0.44542	1.39	0.41127	D	0.98585	B	0.21753	0.06	B	0.21360	0.034	T	0.61912	-0.6965	10	0.17369	T	0.5	-42.657	8.2168	0.31516	0.1331:0.1303:0.7366:0.0	.	162	Q8WXG1	RSAD2_HUMAN	Q	94;162;55	ENSP00000406427:R94Q;ENSP00000371471:R162Q;ENSP00000440859:R55Q	ENSP00000371471:R162Q	R	+	2	0	RSAD2	6941091	0.996000	0.38824	0.985000	0.45067	0.968000	0.65278	2.584000	0.46102	2.802000	0.96397	0.563000	0.77884	CGG		PASS	0.488	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2	NM_080657		25	30	25	30	---	---	---	---
YWHAQ	10971	broad.mit.edu	37	2	9770387	9770387	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr2:9770387G>C	ENST00000381844.4	-	1	358	c.195C>G	c.(193-195)atC>atG	p.I65M	YWHAQ_ENST00000238081.3_Missense_Mutation_p.I65M			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta	65					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|protein complex (GO:0043234)	protein N-terminus binding (GO:0047485)	p.I65M(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		TCTTCTGCTCGATGCTAGAGA	0.607																																						uc002qzw.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(193-195)ATC>ATG		tyrosine 3/tryptophan 5 -monooxygenase							69.0	70.0	70.0					2																	9770387		2203	4300	6503	SO:0001583	missense	10971				negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding	g.chr2:9770387G>C	AF070556	CCDS1666.1	2p25.2-p25.1	2013-12-03	2013-12-03		ENSG00000134308	ENSG00000134308			12854	protein-coding gene	gene with protein product	"""protein tau"""	609009	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide"""			11080204	Standard	NM_006826		Approved	HS1, 14-3-3	uc002qzx.3	P27348	OTTHUMG00000013848	ENST00000381844.4:c.195C>G	2.37:g.9770387G>C	ENSP00000371267:p.Ile65Met					YWHAQ_uc002qzx.2_Missense_Mutation_p.I65M	p.I65M	NM_006826	NP_006817	P27348	1433T_HUMAN		Epithelial(75;0.241)	1	359	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		65					D6W4Z5|Q567U5|Q5TZU8|Q9UP48	Missense_Mutation	SNP	ENST00000381844.4	37	c.195C>G	CCDS1666.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.091869	0.55968	.	.	ENSG00000134308	ENST00000238081;ENST00000381844;ENST00000539979;ENST00000446619	T;T;T	0.51817	0.69;0.69;0.69	5.23	1.28	0.21552	14-3-3 domain (4);	0.155066	0.40554	N	0.001077	T	0.45696	0.1355	M	0.77103	2.36	0.43527	D	0.995809	P	0.38280	0.625	B	0.39339	0.297	T	0.40232	-0.9574	10	0.87932	D	0	.	5.4924	0.16783	0.2988:0.1321:0.5691:0.0	.	65	P27348	1433T_HUMAN	M	65;65;30;65	ENSP00000238081:I65M;ENSP00000371267:I65M;ENSP00000398990:I65M	ENSP00000238081:I65M	I	-	3	3	YWHAQ	9687838	0.998000	0.40836	1.000000	0.80357	0.969000	0.65631	0.440000	0.21592	0.198000	0.20407	-0.339000	0.08088	ATC		PASS	0.607	YWHAQ-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039014.4	NM_006826		25	96	25	96	---	---	---	---
LPIN1	23175	broad.mit.edu	37	2	11922351	11922351	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr2:11922351G>C	ENST00000256720.2	+	7	967	c.874G>C	c.(874-876)Gag>Cag	p.E292Q	LPIN1_ENST00000396097.1_Missense_Mutation_p.E22Q|LPIN1_ENST00000449576.2_Missense_Mutation_p.E377Q|LPIN1_ENST00000396099.1_Missense_Mutation_p.E334Q|LPIN1_ENST00000396098.1_Missense_Mutation_p.E334Q|LPIN1_ENST00000425416.2_Missense_Mutation_p.E298Q	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	292					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.E292Q(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CAAGATGAAAGAGTCCAGCCC	0.448																																						uc010yjn.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(874-876)GAG>CAG		lipin 1							57.0	58.0	58.0					2																	11922351		2203	4300	6503	SO:0001583	missense	23175				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	g.chr2:11922351G>C	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.874G>C	2.37:g.11922351G>C	ENSP00000256720:p.Glu292Gln					LPIN1_uc010yjm.1_Missense_Mutation_p.E377Q|LPIN1_uc002rbt.2_Missense_Mutation_p.E292Q|LPIN1_uc002rbs.2_Missense_Mutation_p.E328Q	p.E292Q	NM_145693	NP_663731	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	8	1148	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		292					A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	c.874G>C	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155413	0.57259	.	.	ENSG00000134324	ENST00000449576;ENST00000396098;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097	T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47	5.17	5.17	0.71159	.	0.877580	0.10107	N	0.715181	T	0.75903	0.3913	L	0.50333	1.59	0.80722	D	1	P;B;P	0.44734	0.842;0.008;0.783	P;B;P	0.49829	0.576;0.014;0.623	T	0.68557	-0.5377	10	0.22706	T	0.39	-9.0687	19.0574	0.93070	0.0:0.0:1.0:0.0	.	377;292;334	F5GY24;Q14693;A8MU38	.;LPIN1_HUMAN;.	Q	377;334;334;298;292;22	ENSP00000397908:E377Q;ENSP00000379405:E334Q;ENSP00000379406:E334Q;ENSP00000401522:E298Q;ENSP00000256720:E292Q;ENSP00000379404:E22Q	ENSP00000256720:E292Q	E	+	1	0	LPIN1	11839802	1.000000	0.71417	0.993000	0.49108	0.903000	0.53119	6.124000	0.71620	2.578000	0.87016	0.655000	0.94253	GAG		PASS	0.448	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		10	57	10	57	---	---	---	---
WDR35	57539	broad.mit.edu	37	2	20137623	20137623	+	Silent	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr2:20137623G>A	ENST00000345530.3	-	20	2296	c.2181C>T	c.(2179-2181)ggC>ggT	p.G727G	WDR35_ENST00000281405.4_Silent_p.G716G|WDR35_ENST00000416055.2_Silent_p.G292G	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	727					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)		p.G727G(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAACTTAATGCCTTGGTAAT	0.448																																						uc002rdi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2179-2181)GGC>GGT		WD repeat domain 35 isoform 1							161.0	158.0	159.0					2																	20137623		2203	4300	6503	SO:0001819	synonymous_variant	57539							g.chr2:20137623G>A	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.2181C>T	2.37:g.20137623G>A						WDR35_uc002rdj.2_Silent_p.G716G|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Silent_p.G292G|WDR35_uc002rdk.3_Silent_p.G292G	p.G727G	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN			20	2289	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		727					B3KVI5|Q4ZG01|Q8NE11	Silent	SNP	ENST00000345530.3	37	c.2181C>T	CCDS33152.1																																																																																				PASS	0.448	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		102	168	102	168	---	---	---	---
APOB	338	broad.mit.edu	37	2	21224842	21224842	+	Silent	SNP	C	C	T	rs200374122		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr2:21224842C>T	ENST00000233242.1	-	29	13579	c.13452G>A	c.(13450-13452)acG>acA	p.T4484T	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4484			T -> M (in dbSNP:rs12713450).		artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.T4484T(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTATTTTCTTCGTCGCAATGG	0.378													c|||	1	0.000199681	0.0	0.0	5008	,	,		18880	0.001		0.0	False		,,,				2504	0.0					uc002red.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(13450-13452)ACG>ACA		apolipoprotein B precursor	Atorvastatin(DB01076)						85.0	91.0	89.0					2																	21224842		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21224842C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.13452G>A	2.37:g.21224842C>T							p.T4484T	NM_000384	NP_000375	P04114	APOB_HUMAN			29	13580	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4484					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.13452G>A	CCDS1703.1																																																																																				PASS	0.378	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			5	156	5	156	---	---	---	---
ATRAID	51374	broad.mit.edu	37	2	27439399	27439399	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr2:27439399C>T	ENST00000606999.1	+	6	554	c.496C>T	c.(496-498)Cct>Tct	p.P166S	CAD_ENST00000264705.4_5'Flank|ATRAID_ENST00000380171.3_Missense_Mutation_p.P221S|CAD_ENST00000403525.1_5'Flank|ATRAID_ENST00000405489.3_Missense_Mutation_p.P108S	NM_001170795.1	NP_001164266.1	Q6UW56	ARAID_HUMAN	all-trans retinoic acid-induced differentiation factor	166	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.P221S(1)									AGAAATGTGTCCTGAGAATGG	0.403																																						uc002rjf.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(661-663)CCT>TCT		apoptosis related protein 3 isoform b							341.0	330.0	334.0					2																	27439399		2203	4300	6503	SO:0001583	missense	51374					integral to membrane|plasma membrane		g.chr2:27439399C>T	BC021237	CCDS1741.1, CCDS46243.1, CCDS62877.1	2p23.3	2012-08-01	2012-07-30	2012-07-30	ENSG00000138085	ENSG00000138085			24090	protein-coding gene	gene with protein product	"""apoptosis-related protein 3"""		"""chromosome 2 open reading frame 28"""	C2orf28		17524364, 21723284	Standard	NM_016085		Approved	HSPC013, p18, APR3	uc002rjf.3	Q6UW56	OTTHUMG00000128405	ENST00000606999.1:c.496C>T	2.37:g.27439399C>T	ENSP00000476080:p.Pro166Ser					C2orf28_uc002rjg.2_Missense_Mutation_p.P108S|C2orf28_uc002rjh.2_RNA|CAD_uc002rji.2_5'Flank|CAD_uc010eyw.2_5'Flank	p.P221S	NM_080592	NP_542159	Q6UW56	APR3_HUMAN			6	834	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		166			EGF-like.|Extracellular (Potential).		A8C1S2|A8K779|Q96FF6|Q96RT2|Q9Y2R7|Q9Y5L7	Missense_Mutation	SNP	ENST00000606999.1	37	c.661C>T		.	.	.	.	.	.	.	.	.	.	C	22.1	4.244545	0.79912	.	.	ENSG00000138085	ENST00000380171;ENST00000405489	D;T	0.85339	-1.97;1.03	5.61	5.61	0.85477	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.92087	0.7492	M	0.77103	2.36	0.49051	D	0.999748	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.92712	0.6184	10	0.87932	D	0	-0.3636	15.1373	0.72579	0.0:1.0:0.0:0.0	.	166;221	Q6UW56;Q6UW56-3	APR3_HUMAN;.	S	221;108	ENSP00000369518:P221S;ENSP00000384033:P108S	ENSP00000369518:P221S	P	+	1	0	C2orf28	27292903	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.318000	0.59190	2.642000	0.89623	0.561000	0.74099	CCT		PASS	0.403	ATRAID-007	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470709.1	NM_016085		66	272	66	272	---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71708055	71708055	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr2:71708055C>T	ENST00000258104.3	+	2	408	c.131C>T	c.(130-132)cCt>cTt	p.P44L	DYSF_ENST00000409651.1_Missense_Mutation_p.P45L|DYSF_ENST00000410020.3_Missense_Mutation_p.P45L|DYSF_ENST00000409366.1_Missense_Mutation_p.P45L|DYSF_ENST00000410041.1_Missense_Mutation_p.P45L|DYSF_ENST00000413539.2_Missense_Mutation_p.P44L|DYSF_ENST00000409744.1_Missense_Mutation_p.P45L|DYSF_ENST00000409582.3_Missense_Mutation_p.P44L|DYSF_ENST00000409762.1_Missense_Mutation_p.P44L|DYSF_ENST00000429174.2_Missense_Mutation_p.P44L|DYSF_ENST00000394120.2_Missense_Mutation_p.P45L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	44	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.P45L(1)|p.P44L(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGCGTGAACCCTGTATGGAAT	0.502																																						uc002sie.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(130-132)CCT>CTT		dysferlin isoform 8							294.0	222.0	246.0					2																	71708055		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71708055C>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.131C>T	2.37:g.71708055C>T	ENSP00000258104:p.Pro44Leu					DYSF_uc010feg.2_Missense_Mutation_p.P44L|DYSF_uc010feh.2_Missense_Mutation_p.P44L|DYSF_uc002sig.3_Missense_Mutation_p.P44L|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.P44L|DYSF_uc010fef.2_Missense_Mutation_p.P44L|DYSF_uc010fei.2_Missense_Mutation_p.P44L|DYSF_uc010fek.2_Missense_Mutation_p.P45L|DYSF_uc010fej.2_Missense_Mutation_p.P45L|DYSF_uc010fel.2_Missense_Mutation_p.P45L|DYSF_uc010feo.2_Missense_Mutation_p.P45L|DYSF_uc010fem.2_Missense_Mutation_p.P45L|DYSF_uc010fen.2_Missense_Mutation_p.P45L|DYSF_uc002sif.2_Missense_Mutation_p.P45L	p.P44L	NM_003494	NP_003485	O75923	DYSF_HUMAN			2	507	+			44			Cytoplasmic (Potential).|C2 1.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.131C>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615493	0.87359	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15;-3.15;-3.15;-3.15;-3.15;-3.15;-3.15;-3.15	4.55	4.55	0.56014	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.229124	0.36374	N	0.002621	D	0.98058	0.9360	H	0.98487	4.245	0.80722	D	1	D;D;P;P;D;D;D;P;D;D;D;P;P;P	0.89917	0.958;0.958;0.923;0.923;0.991;0.991;0.991;0.915;0.958;0.991;1.0;0.923;0.923;0.938	P;P;P;P;P;D;D;P;P;D;D;P;P;P	0.91635	0.783;0.783;0.783;0.682;0.883;0.927;0.927;0.783;0.783;0.927;0.999;0.783;0.783;0.861	D	0.99402	1.0928	10	0.87932	D	0	-8.6087	15.1454	0.72647	0.0:1.0:0.0:0.0	.	45;45;45;45;45;45;44;44;44;44;44;44;45;44	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	L	44;44;44;44;44;45;45;45;45;45;45	ENSP00000407046:P44L;ENSP00000387137:P44L;ENSP00000386547:P44L;ENSP00000398305:P44L;ENSP00000258104:P44L;ENSP00000386683:P45L;ENSP00000377678:P45L;ENSP00000386285:P45L;ENSP00000386512:P45L;ENSP00000386881:P45L;ENSP00000386617:P45L	ENSP00000258104:P44L	P	+	2	0	DYSF	71561563	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	6.066000	0.71185	2.246000	0.74042	0.561000	0.74099	CCT		PASS	0.502	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		26	47	26	47	---	---	---	---
GCC2	9648	broad.mit.edu	37	2	109086545	109086545	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr2:109086545G>A	ENST00000309863.6	+	6	1474	c.760G>A	c.(760-762)Gag>Aag	p.E254K	GCC2_ENST00000485546.1_3'UTR	NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	254					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.E254K(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						AGAGGTGAAAGAGTTGATGTG	0.353																																						uc002tec.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(760-762)GAG>AAG		GRIP and coiled-coil domain-containing 2							125.0	136.0	132.0					2																	109086545		2203	4299	6502	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.chr2:109086545G>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.760G>A	2.37:g.109086545G>A	ENSP00000307939:p.Glu254Lys					GCC2_uc002ted.2_Missense_Mutation_p.E153K	p.E254K	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			6	914	+			254			Potential.		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.760G>A	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	5.938	0.357063	0.11239	.	.	ENSG00000135968	ENST00000435553;ENST00000309863;ENST00000409896	T	0.34072	1.38	5.17	2.31	0.28768	.	0.561268	0.18651	N	0.135009	T	0.26593	0.0650	L	0.32530	0.975	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.18241	-1.0343	10	0.37606	T	0.19	.	10.8809	0.46937	0.2186:0.0:0.7814:0.0	.	254	Q8IWJ2	GCC2_HUMAN	K	254;254;217	ENSP00000307939:E254K	ENSP00000307939:E254K	E	+	1	0	GCC2	108452977	0.267000	0.24122	0.809000	0.32408	0.147000	0.21601	2.019000	0.41001	0.659000	0.30945	0.467000	0.42956	GAG		PASS	0.353	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		10	202	10	202	---	---	---	---
GPR148	344561	broad.mit.edu	37	2	131487737	131487737	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr2:131487737G>T	ENST00000309926.4	+	1	1095	c.1013G>T	c.(1012-1014)aGg>aTg	p.R338M		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	338						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R338M(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CTCCCATCCAGGAGGCACCAG	0.532																																						uc002trv.1																			1	Substitution - Missense(1)	p.R338R(1)	lung(1)	skin(1)	1						c.(1012-1014)AGG>ATG		G protein-coupled receptor 148							29.0	27.0	27.0					2																	131487737		2203	4300	6503	SO:0001583	missense	344561					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:131487737G>T	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.1013G>T	2.37:g.131487737G>T	ENSP00000308908:p.Arg338Met						p.R338M	NM_207364	NP_997247	Q8TDV2	GP148_HUMAN			1	1015	+	Colorectal(110;0.1)		338			Cytoplasmic (Potential).		Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	ENST00000309926.4	37	c.1013G>T	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	7.579	0.668294	0.14776	.	.	ENSG00000173302	ENST00000309926	T	0.39056	1.1	3.28	0.357	0.16079	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38663	U	0.001618	T	0.30198	0.0757	N	0.24115	0.695	0.09310	N	1	D	0.63046	0.992	P	0.49561	0.615	T	0.15752	-1.0426	10	0.72032	D	0.01	-2.3433	5.1221	0.14865	0.4239:0.0:0.5761:0.0	.	338	Q8TDV2	GP148_HUMAN	M	338	ENSP00000308908:R338M	ENSP00000308908:R338M	R	+	2	0	GPR148	131204207	0.544000	0.26441	0.004000	0.12327	0.042000	0.13812	0.552000	0.23376	0.201000	0.20466	-0.258000	0.10820	AGG		PASS	0.532	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		13	18	13	18	---	---	---	---
POTEE	445582	broad.mit.edu	37	2	132021608	132021608	+	Silent	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr2:132021608C>A	ENST00000356920.5	+	15	2674	c.2580C>A	c.(2578-2580)acC>acA	p.T860T	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	860	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.T860T(1)									ACGGGGTCACCCACACTGTGC	0.617																																						uc002tsn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2578-2580)ACC>ACA		protein expressed in prostate, ovary, testis,							52.0	52.0	52.0					2																	132021608		2168	4221	6389	SO:0001819	synonymous_variant	445582						ATP binding	g.chr2:132021608C>A	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2580C>A	2.37:g.132021608C>A						PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.T460T|POTEE_uc002tsl.2_Silent_p.T442T|POTEE_uc010fmy.1_Silent_p.T324T	p.T860T	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			15	2632	+			860			Actin-like.		Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	ENST00000356920.5	37	c.2580C>A	CCDS46414.1																																																																																				PASS	0.617	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		6	119	6	119	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141232707	141232707	+	Splice_Site	SNP	C	C	A	rs77794732		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr2:141232707C>A	ENST00000389484.3	-	60	10596	c.9625G>T	c.(9625-9627)Gtc>Ttc	p.V3209F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3209					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.V3209F(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGGACCAACCTTTGTGTCTA	0.289										TSP Lung(27;0.18)			C|||	1	0.000199681	0.0	0.0	5008	,	,		12997	0.0		0.001	False		,,,				2504	0.0				Colon(99;50 2074 2507 20106)	uc002tvj.1																			2	Substitution - Missense(2)		lung(2)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(9625-9627)GTC>TTC		low density lipoprotein-related protein 1B							77.0	73.0	74.0					2																	141232707		2203	4299	6502	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141232707C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9625+1G>T	2.37:g.141232707C>A		TSP Lung(27;0.18)					p.V3209F	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	60	10597	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3209			Extracellular (Potential).|LDL-receptor class B 31.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.9625G>T	CCDS2182.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	27.1	4.796976	0.90453	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91631	-2.88	5.72	5.72	0.89469	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	U	0.000003	D	0.96284	0.8788	M	0.80847	2.515	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.95635	0.8693	9	.	.	.	.	19.8807	0.96899	0.0:1.0:0.0:0.0	.	3209	Q9NZR2	LRP1B_HUMAN	F	3209;3147	ENSP00000374135:V3209F	.	V	-	1	0	LRP1B	140949177	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.771000	0.85420	2.704000	0.92352	0.650000	0.86243	GTC		PASS	0.289	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Missense_Mutation	18	80	18	80	---	---	---	---
RIF1	55183	broad.mit.edu	37	2	152276711	152276711	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr2:152276711G>C	ENST00000243326.5	+	6	994	c.511G>C	c.(511-513)Gaa>Caa	p.E171Q	RIF1_ENST00000428287.2_Missense_Mutation_p.E171Q|RIF1_ENST00000444746.2_Missense_Mutation_p.E171Q|RIF1_ENST00000430328.2_Missense_Mutation_p.E171Q|RIF1_ENST00000453091.2_Missense_Mutation_p.E171Q|RIF1_ENST00000433166.2_Missense_Mutation_p.E171Q			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.E171Q(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TAGGCTAATTGAACAAGCCCC	0.393																																						uc002txm.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15						c.(511-513)GAA>CAA		RAP1 interacting factor 1							83.0	75.0	78.0					2																	152276711		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152276711G>C	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.511G>C	2.37:g.152276711G>C	ENSP00000243326:p.Glu171Gln					RIF1_uc002txl.2_Missense_Mutation_p.E171Q|RIF1_uc010fnv.1_Missense_Mutation_p.E135Q|RIF1_uc002txn.2_Missense_Mutation_p.E171Q|RIF1_uc002txo.2_Missense_Mutation_p.E171Q|RIF1_uc010zby.1_RNA	p.E171Q	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	7	641	+			171					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.511G>C	CCDS2194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.7|21.7	4.192219|4.192219	0.78902|0.78902	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000433166;ENST00000243326;ENST00000430328|ENST00000414861	T;T;T;T;T;T|.	0.66280|.	-0.2;-0.2;-0.2;0.74;-0.2;-0.2|.	5.51|5.51	5.51|5.51	0.81932|0.81932	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.57504|.	0.2058|.	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.997|.	T|.	0.50524|.	-0.8818|.	10|.	0.72032|.	D|.	0.01|.	-21.7198|-21.7198	19.3717|19.3717	0.94490|0.94490	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	171;171|.	Q5UIP0;Q5UIP0-2|.	RIF1_HUMAN;.|.	Q|S	171|162	ENSP00000390181:E171Q;ENSP00000414615:E171Q;ENSP00000415691:E171Q;ENSP00000396865:E171Q;ENSP00000243326:E171Q;ENSP00000416123:E171Q|.	ENSP00000243326:E171Q|.	E|X	+|+	1|2	0|2	RIF1|RIF1	151984957|151984957	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.641000|0.641000	0.38312|0.38312	9.201000|9.201000	0.95017|0.95017	2.751000|2.751000	0.94390|0.94390	0.555000|0.555000	0.69702|0.69702	GAA|TGA		PASS	0.393	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			10	27	10	27	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152473910	152473910	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr2:152473910A>C	ENST00000172853.10	-	71	10567	c.10420T>G	c.(10420-10422)Tta>Gta	p.L3474V	NEB_ENST00000604864.1_Missense_Mutation_p.L3717V|NEB_ENST00000409198.1_Missense_Mutation_p.L3474V|NEB_ENST00000603639.1_Missense_Mutation_p.L3717V|NEB_ENST00000397345.3_Missense_Mutation_p.L3717V|NEB_ENST00000427231.2_Missense_Mutation_p.L3717V			P20929	NEBU_HUMAN	nebulin	3474					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.L3474V(1)|p.L3717V(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGTTTGGCTAACATGATTTCT	0.358																																						uc010fnx.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(10420-10422)TTA>GTA		nebulin isoform 3							128.0	116.0	120.0					2																	152473910		1876	4098	5974	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152473910A>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.10420T>G	2.37:g.152473910A>C	ENSP00000172853:p.Leu3474Val						p.L3474V	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	71	10611	-			3474			Nebulin 95.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.10420T>G		.	.	.	.	.	.	.	.	.	.	A	18.23	3.577453	0.65878	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.21	2.21	0.28008	.	0.085818	0.48286	D	0.000197	T	0.65811	0.2727	M	0.88377	2.95	0.80722	D	1	D	0.54207	0.965	P	0.56865	0.808	T	0.67956	-0.5536	10	0.40728	T	0.16	.	12.5334	0.56128	0.1101:0.0:0.8899:0.0	.	3474	P20929	NEBU_HUMAN	V	3474;3717;3717;3474	ENSP00000386259:L3474V;ENSP00000380505:L3717V;ENSP00000416578:L3717V;ENSP00000172853:L3474V	ENSP00000172853:L3474V	L	-	1	2	NEB	152182156	0.006000	0.16342	1.000000	0.80357	0.997000	0.91878	0.761000	0.26489	0.215000	0.20761	0.482000	0.46254	TTA		PASS	0.358	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		2	6	2	6	---	---	---	---
BAZ2B	29994	broad.mit.edu	37	2	160284489	160284489	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr2:160284489C>G	ENST00000392783.2	-	13	2924	c.2429G>C	c.(2428-2430)aGa>aCa	p.R810T	BAZ2B_ENST00000392782.1_Intron|BAZ2B_ENST00000343439.5_Missense_Mutation_p.R710T|BAZ2B_ENST00000355831.2_Intron	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	810	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				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.R810T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GTCACCCACTCTTATTTTTGC	0.353																																						uc002uao.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2428-2430)AGA>ACA		bromodomain adjacent to zinc finger domain, 2B							145.0	128.0	133.0					2																	160284489		1833	4079	5912	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160284489C>G	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.2429G>C	2.37:g.160284489C>G	ENSP00000376534:p.Arg810Thr					BAZ2B_uc002uap.2_Intron|BAZ2B_uc002uaq.1_Missense_Mutation_p.R640T|BAZ2B_uc002uar.1_Missense_Mutation_p.R383T	p.R810T	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			13	2781	-			810			MBD.		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.2429G>C	CCDS2209.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.04|12.04	1.818645|1.818645	0.32145|0.32145	.|.	.|.	ENSG00000123636|ENSG00000123636	ENST00000441143|ENST00000392783;ENST00000343439	.|D;D	.|0.99338	.|-5.76;-5.76	5.92|5.92	5.92|5.92	0.95590|0.95590	.|Methyl-CpG DNA binding (4);DNA-binding, integrase-type (1);	.|.	.|.	.|.	.|.	D|D	0.98707|0.98707	0.9566|0.9566	L|L	0.50333|0.50333	1.59|1.59	0.39751|0.39751	D|D	0.971885|0.971885	.|P;P;P	.|0.46395	.|0.877;0.664;0.712	.|P;B;B	.|0.51777	.|0.679;0.143;0.224	D|D	0.99911|0.99911	1.1203|1.1203	5|9	.|0.15952	.|T	.|0.53	-13.4456|-13.4456	20.3172|20.3172	0.98658|0.98658	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|614;710;810	.|Q9UIF8-4;Q9UIF8-2;Q9UIF8	.|.;.;BAZ2B_HUMAN	N|T	143|810;710	.|ENSP00000376534:R810T;ENSP00000339670:R710T	.|ENSP00000339670:R710T	K|R	-|-	3|2	2|0	BAZ2B|BAZ2B	159992735|159992735	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.176000|3.176000	0.50863|0.50863	2.801000|2.801000	0.96364|0.96364	0.650000|0.650000	0.86243|0.86243	AAG|AGA		PASS	0.353	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			45	96	45	96	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170044630	170044630	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr2:170044630C>T	ENST00000263816.3	-	49	9463	c.9178G>A	c.(9178-9180)Gga>Aga	p.G3060R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3060	LDL-receptor class A 24. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.G3060R(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TCATCAGATCCGTCTCCACAG	0.502																																						uc002ues.2																			1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(9178-9180)GGA>AGA		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						165.0	142.0	150.0					2																	170044630		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170044630C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.9178G>A	2.37:g.170044630C>T	ENSP00000263816:p.Gly3060Arg						p.G3060R	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	49	9391	-			3060			LDL-receptor class A 24.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.9178G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234586	0.39498	.	.	ENSG00000081479	ENST00000263816	D	0.96554	-4.05	5.64	-0.0235	0.13943	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	1.121590	0.06617	N	0.756692	D	0.93844	0.8031	M	0.67700	2.07	0.38203	D	0.94024	B	0.26975	0.165	B	0.23419	0.046	D	0.86363	0.1718	10	0.41790	T	0.15	.	4.5177	0.11943	0.1105:0.5841:0.1073:0.1981	.	3060	P98164	LRP2_HUMAN	R	3060	ENSP00000263816:G3060R	ENSP00000263816:G3060R	G	-	1	0	LRP2	169752876	0.993000	0.37304	0.050000	0.19076	0.724000	0.41520	1.994000	0.40757	0.060000	0.16281	0.644000	0.83932	GGA		PASS	0.502	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		48	100	48	100	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170090097	170090097	+	Splice_Site	SNP	A	A	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr2:170090097A>G	ENST00000263816.3	-	30	5207	c.4922T>C	c.(4921-4923)aTt>aCt	p.I1641T		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1641					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.I1641T(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GTGCCGTATAATCTGTGAGGC	0.488																																						uc002ues.2																			1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(4921-4923)ATT>ACT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						51.0	45.0	47.0					2																	170090097		2203	4300	6503	SO:0001630	splice_region_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170090097A>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.4921-1T>C	2.37:g.170090097A>G							p.I1641T	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	30	5135	-			1641			LDL-receptor class B 13.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.4922T>C	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.296771	0.23650	.	.	ENSG00000081479	ENST00000263816	D	0.90955	-2.76	5.16	2.68	0.31781	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.391294	0.28093	N	0.016633	T	0.81269	0.4787	L	0.39898	1.24	0.80722	D	1	P	0.40144	0.704	B	0.30251	0.113	T	0.73500	-0.3963	10	0.30078	T	0.28	.	7.3319	0.26588	0.8006:0.0:0.0711:0.1284	.	1641	P98164	LRP2_HUMAN	T	1641	ENSP00000263816:I1641T	ENSP00000263816:I1641T	I	-	2	0	LRP2	169798343	0.982000	0.34865	0.114000	0.21550	0.043000	0.13939	5.222000	0.65277	0.343000	0.23821	0.455000	0.32223	ATT		PASS	0.488	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	Missense_Mutation	31	36	31	36	---	---	---	---
CCDC173	129881	broad.mit.edu	37	2	170537574	170537574	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr2:170537574C>G	ENST00000447353.1	-	2	342	c.237G>C	c.(235-237)aaG>aaC	p.K79N		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	79								p.K73N(1)									GCATTTCTTTCTTTGCCTTTC	0.418																																						uc002ufe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(235-237)AAG>AAC		hypothetical protein LOC129881							214.0	212.0	212.0					2																	170537574		1997	4174	6171	SO:0001583	missense	129881							g.chr2:170537574C>G	BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"""hypothetical LOC129881"""		"""chromosome 2 open reading frame 77"""	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.237G>C	2.37:g.170537574C>G	ENSP00000391504:p.Lys79Asn						p.K79N	NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN			2	331	-			79			Potential.		Q6PJF6	Missense_Mutation	SNP	ENST00000447353.1	37	c.237G>C	CCDS46445.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857812	0.71834	.	.	ENSG00000154479	ENST00000447353;ENST00000419478	D	0.89050	-2.46	5.79	4.91	0.64330	.	0.605859	0.18566	N	0.137477	D	0.93347	0.7879	M	0.77103	2.36	0.29214	N	0.874409	D	0.76494	0.999	D	0.63488	0.915	D	0.89641	0.3862	10	0.66056	D	0.02	.	12.5759	0.56363	0.0:0.8622:0.0:0.1378	.	79	Q0VFZ6	CB077_HUMAN	N	79;55	ENSP00000408143:K55N	ENSP00000408143:K55N	K	-	3	2	C2orf77	170245820	0.998000	0.40836	1.000000	0.80357	0.987000	0.75469	0.644000	0.24766	1.447000	0.47661	0.563000	0.77884	AAG		PASS	0.418	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333954.2	NM_001085447		45	150	45	150	---	---	---	---
DCAF17	80067	broad.mit.edu	37	2	172309682	172309682	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr2:172309682C>G	ENST00000375255.3	+	6	913	c.586C>G	c.(586-588)Cta>Gta	p.L196V	DCAF17_ENST00000539783.1_Missense_Mutation_p.L196V|DCAF17_ENST00000468592.1_3'UTR	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	196					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.L196V(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						GTTCCGAGTTCTACCTTTTTC	0.348																																						uc002ugx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(586-588)CTA>GTA		DDB1 and CUL4 associated factor 17 isoform 1							134.0	121.0	125.0					2																	172309682		1846	4111	5957	SO:0001583	missense	80067					CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus		g.chr2:172309682C>G	AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"""DDB1 and CUL4 associated factors"""	25784	protein-coding gene	gene with protein product	"""Woodhouse-Sakati syndrome"""	612515	"""chromosome 2 open reading frame 37"""	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.586C>G	2.37:g.172309682C>G	ENSP00000364404:p.Leu196Val					DCAF17_uc010zdq.1_RNA|DCAF17_uc010fqf.1_Missense_Mutation_p.L196V|DCAF17_uc010zdr.1_RNA|DCAF17_uc010fqg.2_5'UTR	p.L196V	NM_025000	NP_079276	Q5H9S7	DCA17_HUMAN			6	815	+			196			Helical; (Potential).		B2RTW5|Q53TN3|Q9H908	Missense_Mutation	SNP	ENST00000375255.3	37	c.586C>G	CCDS2243.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.58|15.58	2.875988|2.875988	0.51695|0.51695	.|.	.|.	ENSG00000115827|ENSG00000115827	ENST00000375255;ENST00000539783;ENST00000339506|ENST00000429466	T;T|.	0.65916|.	-0.18;-0.18|.	5.67|5.67	1.9|1.9	0.25705|0.25705	.|.	0.158231|.	0.42172|.	D|.	0.000748|.	T|T	0.38374|0.38374	0.1038|0.1038	L|L	0.44542|0.44542	1.39|1.39	0.30177|0.30177	N|N	0.800728|0.800728	B;B|.	0.26744|.	0.158;0.054|.	B;B|.	0.33690|.	0.168;0.09|.	T|T	0.39522|0.39522	-0.9610|-0.9610	9|6	.|0.48119	.|T	.|0.1	-7.9089|-7.9089	6.2596|6.2596	0.20893|0.20893	0.1284:0.5355:0.0:0.3361|0.1284:0.5355:0.0:0.3361	.|.	196;196|.	F5H7W1;Q5H9S7|.	.;DCA17_HUMAN|.	V|C	196;196;17|16	ENSP00000364404:L196V;ENSP00000442238:L196V|.	.|ENSP00000389290:S16C	L|S	+|+	1|2	2|0	DCAF17|DCAF17	172017928|172017928	0.977000|0.977000	0.34250|0.34250	0.973000|0.973000	0.42090|0.42090	0.996000|0.996000	0.88848|0.88848	0.770000|0.770000	0.26618|0.26618	0.480000|0.480000	0.27534|0.27534	0.585000|0.585000	0.79938|0.79938	CTA|TCT		PASS	0.348	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255342.2	NM_025000		22	82	22	82	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179468797	179468797	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr2:179468797C>G	ENST00000591111.1	-	232	49918	c.49694G>C	c.(49693-49695)aGa>aCa	p.R16565T	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R9141T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R18206T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9266T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9333T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15638T			Q8WZ42	TITIN_HUMAN	titin	16565	Fibronectin type-III 20. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R15638T(2)|p.R9141T(1)|p.R9333T(1)|p.R9266T(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)			TCCCTCTTCTCTTTTCTCCAG	0.478																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(46912-46914)AGA>ACA		titin isoform N2-A							205.0	208.0	207.0					2																	179468797		1903	4129	6032	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179468797C>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.49694G>C	2.37:g.179468797C>G	ENSP00000465570:p.Arg16565Thr					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R9333T|TTN_uc010zfi.1_Missense_Mutation_p.R9266T|TTN_uc010zfj.1_Missense_Mutation_p.R9141T	p.R15638T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		231	47137	-			16565					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.46913G>C		.	.	.	.	.	.	.	.	.	.	C	11.05	1.524814	0.27299	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	6.16	5.29	0.74685	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63224	0.2493	M	0.86953	2.85	0.46437	D	0.999044	B;B;B;B	0.10296	0.003;0.003;0.003;0.003	B;B;B;B	0.16289	0.015;0.015;0.015;0.015	T	0.64939	-0.6289	9	0.87932	D	0	.	11.8621	0.52471	0.0:0.8108:0.124:0.0652	.	9141;9266;9333;16565	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	15638;9141;9333;9266;9141	ENSP00000343764:R15638T;ENSP00000434586:R9141T;ENSP00000340554:R9333T;ENSP00000352154:R9266T	ENSP00000340554:R9333T	R	-	2	0	TTN	179177042	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.932000	0.63476	1.613000	0.50231	-0.172000	0.13284	AGA		PASS	0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	385	6	385	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179605892	179605892	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr2:179605892G>A	ENST00000591111.1	-	46	11341	c.11117C>T	c.(11116-11118)gCa>gTa	p.A3706V	TTN_ENST00000460472.2_Missense_Mutation_p.A3660V|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A4023V|TTN_ENST00000359218.5_Missense_Mutation_p.A3785V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A3852V|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin	14008	Ig-like 22.				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.A3785V(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)			CAGCTCTGCTGCACAGGTGGA	0.502																																						uc010zfh.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.(11554-11556)GCA>GTA		titin isoform novex-2							86.0	87.0	87.0					2																	179605892		1914	4137	6051	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179605892G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.11117C>T	2.37:g.179605892G>A	ENSP00000465570:p.Ala3706Val					TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.A3785V|TTN_uc010zfj.1_Missense_Mutation_p.A3660V|TTN_uc002umz.1_Intron	p.A3852V	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11779	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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.11555C>T		.	.	.	.	.	.	.	.	.	.	G	7.966	0.748053	0.15710	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.67698	-0.28;-0.28;-0.28	5.87	2.88	0.33553	.	.	.	.	.	T	0.51805	0.1696	L	0.31752	0.955	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.48139	-0.9061	9	0.87932	D	0	.	6.6412	0.22911	0.0662:0.239:0.5715:0.1233	.	3660;3785;3852	D3DPF9;E7EQE6;E7ET18	.;.;.	V	3660;3852;3785;3660	ENSP00000434586:A3660V;ENSP00000340554:A3852V;ENSP00000352154:A3785V	ENSP00000340554:A3852V	A	-	2	0	TTN	179314137	0.788000	0.28762	0.292000	0.24919	0.253000	0.25986	2.386000	0.44380	0.913000	0.36797	0.655000	0.94253	GCA		PASS	0.502	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	162	10	162	---	---	---	---
CALCRL	10203	broad.mit.edu	37	2	188223976	188223976	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr2:188223976T>C	ENST00000409998.1	-	12	1586	c.805A>G	c.(805-807)Ata>Gta	p.I269V	CALCRL_ENST00000410068.1_Missense_Mutation_p.I269V|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.I269V|AC007319.1_ENST00000453517.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	269					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)	p.I269V(1)		endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			ATGGCATGTATACAAGCAGGA	0.239																																						uc002upv.3																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)	4						c.(805-807)ATA>GTA		calcitonin receptor-like precursor							19.0	20.0	20.0					2																	188223976		2177	4281	6458	SO:0001583	missense	10203					integral to plasma membrane		g.chr2:188223976T>C	U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"""GPCR / Class B : Calcitonin receptors"""	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.805A>G	2.37:g.188223976T>C	ENSP00000386972:p.Ile269Val					CALCRL_uc010frt.2_Missense_Mutation_p.I269V	p.I269V	NM_005795	NP_005786	Q16602	CALRL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)		11	1353	-			269			Helical; Name=4; (Potential).		A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	ENST00000409998.1	37	c.805A>G	CCDS2293.1	.	.	.	.	.	.	.	.	.	.	T	12.47	1.947410	0.34377	.	.	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068	T;T;T	0.36699	1.24;1.24;1.24	5.5	4.23	0.50019	GPCR, family 2-like (1);	0.164203	0.40385	N	0.001108	T	0.28067	0.0692	L	0.31157	0.91	0.52501	D	0.999959	B	0.27732	0.187	B	0.37989	0.262	T	0.03130	-1.1069	10	0.06757	T	0.87	.	12.1741	0.54176	0.1365:0.0:0.0:0.8635	.	269	Q16602	CALRL_HUMAN	V	269	ENSP00000376177:I269V;ENSP00000386972:I269V;ENSP00000387190:I269V	ENSP00000376177:I269V	I	-	1	0	CALCRL	187932221	1.000000	0.71417	0.840000	0.33206	0.711000	0.40976	6.190000	0.72057	2.102000	0.63906	0.533000	0.62120	ATA		PASS	0.239	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1	NM_005795		8	7	8	7	---	---	---	---
FAM126B	285172	broad.mit.edu	37	2	201853065	201853065	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr2:201853065T>G	ENST00000418596.3	-	11	1098	c.911A>C	c.(910-912)gAa>gCa	p.E304A	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	304						intracellular (GO:0005622)		p.E304A(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						TGGAGTGACTTCAACTTTAAG	0.413																																						uc002uws.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(910-912)GAA>GCA		hypothetical protein LOC285172							134.0	134.0	134.0					2																	201853065		2203	4300	6503	SO:0001583	missense	285172					intracellular		g.chr2:201853065T>G	BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.911A>C	2.37:g.201853065T>G	ENSP00000393667:p.Glu304Ala					FAM126B_uc002uwu.2_Missense_Mutation_p.E222A|FAM126B_uc002uwv.2_Missense_Mutation_p.E304A	p.E304A	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN			11	1099	-			304					B2RCG7|Q4ZG87|Q53TX6	Missense_Mutation	SNP	ENST00000418596.3	37	c.911A>C	CCDS2335.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.055275	0.55325	.	.	ENSG00000155744	ENST00000418596	T	0.79940	-1.32	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.85517	0.5715	L	0.46819	1.47	0.80722	D	1	P;D	0.69078	0.619;0.997	B;D	0.77004	0.372;0.989	T	0.82673	-0.0341	10	0.21540	T	0.41	-15.6804	15.7467	0.77949	0.0:0.0:0.0:1.0	.	110;304	B3KUG1;Q8IXS8	.;F126B_HUMAN	A	304	ENSP00000393667:E304A	ENSP00000393667:E304A	E	-	2	0	FAM126B	201561310	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.311000	0.78958	2.124000	0.65301	0.402000	0.26972	GAA		PASS	0.413	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822		61	82	61	82	---	---	---	---
ADAM23	8745	broad.mit.edu	37	2	207460864	207460864	+	Silent	SNP	C	C	A	rs571615571		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr2:207460864C>A	ENST00000264377.3	+	24	2665	c.2337C>A	c.(2335-2337)ccC>ccA	p.P779P	ADAM23_ENST00000374415.3_Silent_p.P779P|ADAM23_ENST00000374416.1_Silent_p.P779P	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	779					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P779P(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		ACCTTCACCCCCCCAAGGATG	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		14393	0.0		0.0	False		,,,				2504	0.001				Melanoma(194;1127 2130 19620 24042 27855)	uc002vbq.2																			2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)	3						c.(2335-2337)CCC>CCA		ADAM metallopeptidase domain 23 preproprotein							89.0	72.0	78.0					2																	207460864		2203	4300	6503	SO:0001819	synonymous_variant	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207460864C>A	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.2337C>A	2.37:g.207460864C>A						ADAM23_uc010ziv.1_Intron	p.P779P	NM_003812	NP_003803	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	24	2560	+			779			Extracellular (Potential).		A2RU59	Silent	SNP	ENST00000264377.3	37	c.2337C>A	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	C	8.358	0.832512	0.16820	.	.	ENSG00000114948	ENST00000444281	.	.	.	5.8	-6.37	0.01963	.	0.441336	0.21554	N	0.072698	T	0.14614	0.0353	.	.	.	0.19300	N	0.999971	.	.	.	.	.	.	T	0.17167	-1.0378	6	0.23891	T	0.37	.	0.5574	0.00673	0.3338:0.2518:0.1972:0.2172	.	.	.	.	H	54	.	ENSP00000406827:P54H	P	+	2	0	ADAM23	207169109	0.000000	0.05858	0.703000	0.30354	0.965000	0.64279	-0.723000	0.04952	-1.201000	0.02659	-0.126000	0.14955	CCC		PASS	0.448	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		10	19	10	19	---	---	---	---
TNS1	7145	broad.mit.edu	37	2	218713626	218713626	+	Silent	SNP	G	G	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr2:218713626G>T	ENST00000171887.4	-	17	1691	c.1239C>A	c.(1237-1239)acC>acA	p.T413T	TNS1_ENST00000480665.1_5'UTR|TNS1_ENST00000419504.1_Silent_p.T413T|TNS1_ENST00000430930.1_Silent_p.T413T	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	413					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.T413T(1)|p.T538T(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TGTCGGTCTTGGTGGAGGCTG	0.642																																						uc002vgt.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|breast(1)	4						c.(1237-1239)ACC>ACA		tensin							96.0	93.0	94.0					2																	218713626		2203	4300	6503	SO:0001819	synonymous_variant	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218713626G>T	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1239C>A	2.37:g.218713626G>T						TNS1_uc002vgr.2_Silent_p.T413T|TNS1_uc002vgs.2_Silent_p.T413T|TNS1_uc010zjv.1_Silent_p.T413T|TNS1_uc010fvj.1_Silent_p.T481T|TNS1_uc010fvk.1_Silent_p.T538T|TNS1_uc010fvi.1_Silent_p.T100T	p.T413T	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	17	1637	-		Renal(207;0.0483)|Lung NSC(271;0.213)	413					Q4ZG71|Q6IPI5	Silent	SNP	ENST00000171887.4	37	c.1239C>A	CCDS2407.1																																																																																				PASS	0.642	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		18	84	18	84	---	---	---	---
PTPRN	5798	broad.mit.edu	37	2	220156190	220156190	+	Splice_Site	SNP	A	A	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr2:220156190A>T	ENST00000295718.2	-	20	2970		c.e20+1		PTPRN_ENST00000497977.1_Splice_Site|PTPRN_ENST00000409251.3_Splice_Site|MIR153-1_ENST00000384914.1_RNA|PTPRN_ENST00000423636.2_Splice_Site	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N						cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.?(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CTCTCCACCCACCTGCAGTGC	0.592																																						uc002vkz.2																			1	Unknown(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.e20+1		protein tyrosine phosphatase, receptor type, N							86.0	69.0	75.0					2																	220156190		2203	4300	6503	SO:0001630	splice_region_variant	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220156190A>T		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.2729+1T>A	2.37:g.220156190A>T						PTPRN_uc010zlc.1_Splice_Site_p.S820_splice|PTPRN_uc002vla.2_Splice_Site_p.S881_splice	p.S910_splice	NM_002846	NP_002837	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	20	2818	-		Renal(207;0.0474)						B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Splice_Site	SNP	ENST00000295718.2	37	c.2729_splice	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.306993	0.81247	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000443981;ENST00000539342;ENST00000537666	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5735	0.61860	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPRN	219864434	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.958000	0.56737	2.037000	0.60232	0.459000	0.35465	.		PASS	0.592	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2		Intron	19	24	19	24	---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220357321	220357321	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr2:220357321G>A	ENST00000312358.7	+	41	9749	c.9617G>A	c.(9616-9618)cGg>cAg	p.R3206Q	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	3206	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R3206Q(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGCAGGAGCCGGCCCTCCCTG	0.657																																						uc010fwg.2																			1	Substitution - Missense(1)		lung(1)	stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(9616-9618)CGG>CAG		SPEG complex locus							48.0	54.0	52.0					2																	220357321		1988	4140	6128	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220357321G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.9617G>A	2.37:g.220357321G>A	ENSP00000311684:p.Arg3206Gln						p.R3206Q	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	41	9617	+		Renal(207;0.0183)	3206			Protein kinase 2.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.9617G>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	36	5.901095	0.97087	.	.	ENSG00000072195	ENST00000312358	T	0.80566	-1.39	5.06	5.06	0.68205	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	0.35615	N	0.003082	D	0.93064	0.7792	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.95296	0.8399	10	0.87932	D	0	.	18.0348	0.89296	0.0:0.0:1.0:0.0	.	3206	Q15772	SPEG_HUMAN	Q	3206	ENSP00000311684:R3206Q	ENSP00000311684:R3206Q	R	+	2	0	SPEG	220065565	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.711000	0.98735	2.361000	0.80049	0.591000	0.81541	CGG		PASS	0.657	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		6	105	6	105	---	---	---	---
TRIP12	9320	broad.mit.edu	37	2	230724207	230724207	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr2:230724207C>T	ENST00000283943.5	-	3	360	c.182G>A	c.(181-183)gGg>gAg	p.G61E	TRIP12_ENST00000543084.1_Missense_Mutation_p.G103E|TRIP12_ENST00000409677.1_Missense_Mutation_p.G103E|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000389044.4_Missense_Mutation_p.G103E	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	61					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.G61E(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AGGCACCTGCCCCGTTTTTTG	0.453																																						uc002vpw.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(181-183)GGG>GAG		thyroid hormone receptor interactor 12							169.0	177.0	174.0					2																	230724207		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230724207C>T	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.182G>A	2.37:g.230724207C>T	ENSP00000283943:p.Gly61Glu					TRIP12_uc002vpx.1_Missense_Mutation_p.G103E|TRIP12_uc002vpy.1_Intron|TRIP12_uc010zlz.1_RNA|TRIP12_uc010fxh.1_Missense_Mutation_p.G61E	p.G61E	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	3	291	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	61					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.182G>A	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291731	0.40594	.	.	ENSG00000153827	ENST00000283943;ENST00000389044;ENST00000543084;ENST00000409677;ENST00000435716;ENST00000428959;ENST00000430954;ENST00000343290	T;T	0.46063	0.88;0.88	5.85	3.05	0.35203	.	0.107275	0.64402	D	0.000006	T	0.24122	0.0584	N	0.19112	0.55	0.54753	D	0.999982	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.04723	-1.0931	10	0.32370	T	0.25	.	6.7702	0.23589	0.1434:0.7114:0.0:0.1453	.	61;103;61	D4HL82;Q14CA3;Q14669	.;.;TRIPC_HUMAN	E	61;103;103;103;61;61;103;61	ENSP00000283943:G61E;ENSP00000373696:G103E	ENSP00000283943:G61E	G	-	2	0	TRIP12	230432451	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.946000	0.56644	0.794000	0.33899	0.655000	0.94253	GGG		PASS	0.453	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		7	178	7	178	---	---	---	---
CHRNG	1146	broad.mit.edu	37	2	233408046	233408046	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr2:233408046C>A	ENST00000389494.3	+	8	888	c.867C>A	c.(865-867)ttC>ttA	p.F289L	CHRNG_ENST00000389492.3_Missense_Mutation_p.F237L	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	289					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)	p.F289L(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	TCTTCCTCTTCCTTGTGGCCA	0.582																																						uc002vsx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(865-867)TTC>TTA		cholinergic receptor, nicotinic, gamma							103.0	96.0	99.0					2																	233408046		2203	4300	6503	SO:0001583	missense	1146				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	g.chr2:233408046C>A	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.867C>A	2.37:g.233408046C>A	ENSP00000374145:p.Phe289Leu					CHRNG_uc010fye.1_Missense_Mutation_p.F237L	p.F289L	NM_005199	NP_005190	P07510	ACHG_HUMAN		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	8	888	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	289			Helical; (Potential).		B3KWM8|Q14DU4|Q53RG2	Missense_Mutation	SNP	ENST00000389494.3	37	c.867C>A	CCDS33400.1	.	.	.	.	.	.	.	.	.	.	C	6.929	0.541209	0.13250	.	.	ENSG00000196811	ENST00000389494;ENST00000541596;ENST00000389492	D;D	0.82433	-1.61;-1.61	5.09	4.21	0.49690	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.055415	0.64402	D	0.000001	T	0.62575	0.2439	N	0.02775	-0.495	0.50632	D	0.999881	B;B	0.24258	0.1;0.005	B;B	0.32289	0.143;0.04	T	0.60271	-0.7296	10	0.02654	T	1	.	13.5019	0.61462	0.0:0.9249:0.0:0.0751	.	237;289	Q14DU4;P07510	.;ACHG_HUMAN	L	289;289;237	ENSP00000374145:F289L;ENSP00000374143:F237L	ENSP00000374143:F237L	F	+	3	2	CHRNG	233116290	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	1.800000	0.38833	1.379000	0.46325	0.462000	0.41574	TTC		PASS	0.582	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1	NM_005199		8	32	8	32	---	---	---	---
CHRNG	1146	broad.mit.edu	37	2	233409214	233409214	+	Silent	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr2:233409214C>G	ENST00000389494.3	+	10	1194	c.1173C>G	c.(1171-1173)ctC>ctG	p.L391L	CHRNG_ENST00000389492.3_Silent_p.L339L	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	391					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)	p.L391L(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	AGGTGGCCCTCTGCCTGCCTC	0.662																																						uc002vsx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1171-1173)CTC>CTG		cholinergic receptor, nicotinic, gamma							65.0	66.0	66.0					2																	233409214		2203	4300	6503	SO:0001819	synonymous_variant	1146				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	g.chr2:233409214C>G	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.1173C>G	2.37:g.233409214C>G						CHRNG_uc010fye.1_Silent_p.L339L	p.L391L	NM_005199	NP_005190	P07510	ACHG_HUMAN		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	10	1194	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	391			Cytoplasmic (Potential).		B3KWM8|Q14DU4|Q53RG2	Silent	SNP	ENST00000389494.3	37	c.1173C>G	CCDS33400.1																																																																																				PASS	0.662	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1	NM_005199		22	84	22	84	---	---	---	---
NGEF	25791	broad.mit.edu	37	2	233785170	233785170	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr2:233785170C>A	ENST00000264051.3	-	5	930	c.652G>T	c.(652-654)Gaa>Taa	p.E218*	NGEF_ENST00000409079.1_Nonsense_Mutation_p.E126*|NGEF_ENST00000373552.4_Nonsense_Mutation_p.E126*	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	218	Poly-Glu.|Regulatory region; modulates activity toward RHOA, RAC1 and CDC42. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E218*(2)		central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		tcttcttcttcctcctccGGG	0.557																																						uc002vts.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)|central_nervous_system(3)|skin(1)	7						c.(652-654)GAA>TAA		neuronal guanine nucleotide exchange factor							71.0	75.0	74.0					2																	233785170		2203	4300	6503	SO:0001587	stop_gained	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233785170C>A	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.652G>T	2.37:g.233785170C>A	ENSP00000264051:p.Glu218*					NGEF_uc010fyg.1_Nonsense_Mutation_p.E126*|NGEF_uc002vtt.2_Nonsense_Mutation_p.E126*	p.E218*	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	5	900	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	218			Poly-Glu.|Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Nonsense_Mutation	SNP	ENST00000264051.3	37	c.652G>T	CCDS2500.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119351	0.77323	.	.	ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000409079	.	.	.	4.34	4.34	0.51931	.	0.000000	0.44097	D	0.000499	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-11.0736	12.5078	0.55991	0.0:1.0:0.0:0.0	.	.	.	.	X	218;126;108;126	.	ENSP00000264051:E218X	E	-	1	0	NGEF	233493414	0.384000	0.25164	0.995000	0.50966	0.280000	0.26924	3.237000	0.51344	2.400000	0.81607	0.491000	0.48974	GAA		PASS	0.557	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		19	48	19	48	---	---	---	---
UGT1A5	54579	broad.mit.edu	37	2	234622280	234622280	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr2:234622280C>G	ENST00000373414.3	+	1	643	c.643C>G	c.(643-645)Ctc>Gtc	p.L215V	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000608381.1_Missense_Mutation_p.L215V			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	215						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.L215V(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		CAAGAACATGCTCTACCCTCT	0.483																																						uc002vuw.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(643-645)CTC>GTC		UDP glycosyltransferase 1 family, polypeptide A5							210.0	198.0	202.0					2																	234622280		2203	4300	6503	SO:0001583	missense	54579				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr2:234622280C>G	M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"""UDP glucuronosyltransferases"""	12537	other	complex locus constituent		606430	"""UDP glycosyltransferase 1 family, polypeptide A5"""			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.643C>G	2.37:g.234622280C>G	ENSP00000362513:p.Leu215Val					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Missense_Mutation_p.L215V	p.L215V	NM_019078	NP_061951	P35504	UD15_HUMAN		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)	1	643	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)	215					B8K294	Missense_Mutation	SNP	ENST00000373414.3	37	c.643C>G	CCDS33404.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.316416	0.40996	.	.	ENSG00000240224	ENST00000373414	T	0.60299	0.2	4.77	2.81	0.32909	.	0.222293	0.38778	N	0.001574	T	0.53286	0.1787	M	0.71581	2.175	0.29018	N	0.886471	P;P	0.39737	0.685;0.685	B;B	0.37888	0.26;0.26	T	0.54227	-0.8325	10	0.44086	T	0.13	.	10.0681	0.42317	0.2718:0.5965:0.1317:0.0	.	215;215	Q5DSZ9;P35504	.;UD15_HUMAN	V	215	ENSP00000362513:L215V	ENSP00000362513:L215V	L	+	1	0	UGT1A5	234287019	0.009000	0.17119	0.966000	0.40874	0.667000	0.39255	-0.224000	0.09164	0.991000	0.38814	0.561000	0.74099	CTC		PASS	0.483	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130985.1	NM_019078		4	220	4	220	---	---	---	---
SATB1	6304	broad.mit.edu	37	3	18436276	18436276	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:18436276G>A	ENST00000338745.6	-	7	2618	c.884C>T	c.(883-885)tCt>tTt	p.S295F	SATB1_ENST00000454909.2_Missense_Mutation_p.S295F|SATB1_ENST00000475083.1_5'Flank|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.S295F	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	295					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S295F(1)|p.S295C(1)		NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TGTCCGGACAGAGGGCTGGCT	0.582																																						uc003cbh.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|lung(1)	4						c.(883-885)TCT>TTT		special AT-rich sequence binding protein 1							104.0	94.0	97.0					3																	18436276		2203	4300	6503	SO:0001583	missense	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18436276G>A		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.884C>T	3.37:g.18436276G>A	ENSP00000341024:p.Ser295Phe					SATB1_uc003cbi.2_Missense_Mutation_p.S295F|SATB1_uc003cbj.2_Missense_Mutation_p.S295F	p.S295F	NM_002971	NP_002962	Q01826	SATB1_HUMAN			7	2619	-			295					B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	ENST00000338745.6	37	c.884C>T	CCDS2631.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155094	0.57259	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	T;T;T	0.46819	0.86;0.86;0.86	5.75	5.75	0.90469	.	0.329474	0.34314	N	0.004074	T	0.38427	0.1040	N	0.08118	0	0.80722	D	1	P;P	0.51351	0.944;0.761	P;B	0.47981	0.563;0.123	T	0.24764	-1.0151	10	0.28530	T	0.3	-20.6018	19.9522	0.97203	0.0:0.0:1.0:0.0	.	295;295	Q01826-2;Q01826	.;SATB1_HUMAN	F	295	ENSP00000341024:S295F;ENSP00000399708:S295F;ENSP00000399518:S295F	ENSP00000341024:S295F	S	-	2	0	SATB1	18411280	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.515000	0.81761	2.725000	0.93324	0.655000	0.94253	TCT		PASS	0.582	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		15	75	15	75	---	---	---	---
TLR9	54106	broad.mit.edu	37	3	52257047	52257047	+	Missense_Mutation	SNP	C	C	T	rs561203848		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:52257047C>T	ENST00000360658.2	-	2	1918	c.1285G>A	c.(1285-1287)Gga>Aga	p.G429R	TLR9_ENST00000597542.1_Missense_Mutation_p.G453R|TLR9_ENST00000494383.1_Missense_Mutation_p.R582Q	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	429					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)	p.G429*(2)|p.G429R(1)		endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	TCCGAAGCTCCGCTGATGCGG	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		20569	0.001		0.0	False		,,,				2504	0.0					uc003dda.1																			3	Substitution - Nonsense(2)|Substitution - Missense(1)		lung(3)	large_intestine(2)|skin(2)	4						c.(1285-1287)GGA>AGA		toll-like receptor 9 isoform A precursor	Chloroquine(DB00608)						76.0	78.0	77.0					3																	52257047		2203	4300	6503	SO:0001583	missense	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52257047C>T	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.1285G>A	3.37:g.52257047C>T	ENSP00000353874:p.Gly429Arg					TLR9_uc003ddb.2_Missense_Mutation_p.G526R	p.G429R	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	1919	-			429			LRR 14.|Extracellular (Potential).		B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	c.1285G>A	CCDS2848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.17|16.17	3.046579|3.046579	0.55110|0.55110	.|.	.|.	ENSG00000239732|ENSG00000173366	ENST00000360658|ENST00000494383	T|.	0.42131|.	0.98|.	5.23|5.23	2.39|2.39	0.29439|0.29439	.|.	0.211816|.	0.24481|.	N|.	0.038145|.	T|T	0.53417|0.53417	0.1795|0.1795	M|M	0.73962|0.73962	2.25|2.25	0.09310|0.09310	N|N	1|1	P;D|.	0.89917|.	0.892;1.0|.	B;D|.	0.77004|.	0.13;0.989|.	T|T	0.44574|0.44574	-0.9319|-0.9319	10|5	0.38643|.	T|.	0.18|.	.|.	7.5897|7.5897	0.28015|0.28015	0.0:0.6432:0.0:0.3568|0.0:0.6432:0.0:0.3568	.|.	526;429|.	B4E0A1;Q9NR96|.	.;TLR9_HUMAN|.	R|Q	429|582	ENSP00000353874:G429R|.	ENSP00000353874:G429R|.	G|R	-|-	1|2	0|0	TLR9|RP11-330H6.5	52232087|52232087	0.000000|0.000000	0.05858|0.05858	0.056000|0.056000	0.19401|0.19401	0.065000|0.065000	0.16274|0.16274	0.613000|0.613000	0.24299|0.24299	0.694000|0.694000	0.31654|0.31654	0.655000|0.655000	0.94253|0.94253	GGA|CGG		PASS	0.642	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			7	122	7	122	---	---	---	---
CCDC66	285331	broad.mit.edu	37	3	56600985	56600985	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:56600985G>C	ENST00000394672.3	+	6	788	c.718G>C	c.(718-720)Gaa>Caa	p.E240Q	CCDC66_ENST00000538560.1_Missense_Mutation_p.E240Q|CCDC66_ENST00000442522.2_3'UTR|CCDC66_ENST00000326595.7_Missense_Mutation_p.E206Q|CCDC66_ENST00000436465.2_Missense_Mutation_p.E240Q	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	240					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)			p.E123Q(1)|p.E240Q(1)		breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		TAGAGAGAATGAATGGAAACC	0.363																																						uc003dhz.2																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(718-720)GAA>CAA		coiled-coil domain containing 66 isoform 1							111.0	115.0	114.0					3																	56600985		2203	4300	6503	SO:0001583	missense	285331							g.chr3:56600985G>C	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.718G>C	3.37:g.56600985G>C	ENSP00000378167:p.Glu240Gln					CCDC66_uc003dhy.2_5'UTR|CCDC66_uc003dhu.2_Missense_Mutation_p.E206Q|CCDC66_uc003dhx.2_RNA|CCDC66_uc003dhv.2_RNA|CCDC66_uc003dhw.2_Missense_Mutation_p.E240Q	p.E240Q	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	6	805	+			240					B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	c.718G>C	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	G	8.763	0.924056	0.18056	.	.	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465;ENST00000538560	D;D;D;D;D	0.99607	-6.27;-6.27;-6.27;-6.27;-6.27	5.4	2.63	0.31362	.	0.641212	0.14807	N	0.297252	D	0.97420	0.9156	L	0.36672	1.1	0.20821	N	0.999847	B;B	0.30973	0.145;0.302	B;B	0.31614	0.133;0.133	D	0.94857	0.8018	10	0.14656	T	0.56	-1.612	2.5264	0.04692	0.1597:0.1223:0.5315:0.1865	.	240;240	A2RUB6;A2RUB6-2	CCD66_HUMAN;.	Q	240;240;206;240;240	ENSP00000401451:E240Q;ENSP00000378167:E240Q;ENSP00000326050:E206Q;ENSP00000404320:E240Q;ENSP00000444919:E240Q	ENSP00000326050:E206Q	E	+	1	0	CCDC66	56576025	0.994000	0.37717	0.728000	0.30774	0.965000	0.64279	1.270000	0.33086	0.265000	0.21872	0.655000	0.94253	GAA		PASS	0.363	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		26	41	26	41	---	---	---	---
ADAMTS9	56999	broad.mit.edu	37	3	64527226	64527226	+	Silent	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:64527226C>T	ENST00000498707.1	-	34	5610	c.5268G>A	c.(5266-5268)ctG>ctA	p.L1756L	ADAMTS9_ENST00000295903.4_Silent_p.L1728L	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1756	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L1756L(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTCTAATCATCAGGAAATATT	0.388																																						uc003dmg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|urinary_tract(1)|skin(1)	4						c.(5266-5268)CTG>CTA		ADAM metallopeptidase with thrombospondin type 1							195.0	194.0	194.0					3																	64527226		2203	4300	6503	SO:0001819	synonymous_variant	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64527226C>T	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5268G>A	3.37:g.64527226C>T						ADAMTS9_uc011bfo.1_Silent_p.L1728L|ADAMTS9_uc011bfp.1_Silent_p.L667L	p.L1756L	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	34	5300	-		Lung NSC(201;0.00682)	1756			GON.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Silent	SNP	ENST00000498707.1	37	c.5268G>A	CCDS2903.1																																																																																				PASS	0.388	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			35	86	35	86	---	---	---	---
PDZRN3	23024	broad.mit.edu	37	3	73433635	73433635	+	Silent	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:73433635G>A	ENST00000263666.4	-	10	2196	c.2082C>T	c.(2080-2082)agC>agT	p.S694S	PDZRN3_ENST00000462146.2_Silent_p.S351S|PDZRN3_ENST00000535920.1_Silent_p.S416S|PDZRN3_ENST00000466780.1_Silent_p.S351S|PDZRN3_ENST00000479530.1_Silent_p.S411S|PDZRN3_ENST00000466348.1_5'Flank	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	694					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.S694S(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)		CCAGCTCGATGCTGCGCAGCT	0.632																																						uc003dpl.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(2080-2082)AGC>AGT		PDZ domain containing ring finger 3							38.0	33.0	35.0					3																	73433635		2203	4300	6503	SO:0001819	synonymous_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433635G>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.2082C>T	3.37:g.73433635G>A						PDZRN3_uc011bgh.1_Silent_p.S351S|PDZRN3_uc010hoe.1_Silent_p.S392S|PDZRN3_uc011bgf.1_Silent_p.S411S|PDZRN3_uc011bgg.1_Silent_p.S414S	p.S694S	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	2178	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	694			Potential.		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	c.2082C>T	CCDS33789.1																																																																																				PASS	0.632	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		23	11	23	11	---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89480480	89480480	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:89480480G>A	ENST00000336596.2	+	13	2542	c.2317G>A	c.(2317-2319)Gat>Aat	p.D773N	EPHA3_ENST00000494014.1_Missense_Mutation_p.D773N	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	773	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.D773N(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGTCCTGGAGGATGACCCAGA	0.408										TSP Lung(6;0.00050)																												uc003dqy.2																			1	Substitution - Missense(1)		lung(1)	lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(2317-2319)GAT>AAT		ephrin receptor EphA3 isoform a precursor							117.0	111.0	113.0					3																	89480480		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89480480G>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2317G>A	3.37:g.89480480G>A	ENSP00000337451:p.Asp773Asn	TSP Lung(6;0.00050)				EPHA3_uc010hon.1_RNA	p.D773N	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	13	2542	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	773			Cytoplasmic (Potential).|Protein kinase.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.2317G>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408825	0.83340	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	D;D	0.82255	-1.59;-1.59	5.33	5.33	0.75918	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	0.85017	0.5601	N	0.17631	0.505	0.80722	D	1	D	0.60160	0.987	D	0.73708	0.981	D	0.83630	0.0144	9	.	.	.	.	19.3726	0.94495	0.0:0.0:1.0:0.0	.	773	P29320	EPHA3_HUMAN	N	773	ENSP00000337451:D773N;ENSP00000419190:D773N	.	D	+	1	0	EPHA3	89563170	1.000000	0.71417	0.970000	0.41538	0.460000	0.32559	9.813000	0.99286	2.648000	0.89879	0.585000	0.79938	GAT		PASS	0.408	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		6	11	6	11	---	---	---	---
NXPE3	91775	broad.mit.edu	37	3	101540528	101540528	+	Silent	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:101540528C>G	ENST00000491511.2	+	8	2366	c.1410C>G	c.(1408-1410)ctC>ctG	p.L470L	NXPE3_ENST00000477909.1_Silent_p.L470L|NXPE3_ENST00000273347.5_Silent_p.L470L|RP11-49I4.3_ENST00000490324.2_RNA|NXPE3_ENST00000422132.1_Silent_p.L470L	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	470						extracellular region (GO:0005576)		p.L470L(1)									TGGTTCGGCTCCTCGATCGAA	0.567																																						uc003dvn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1408-1410)CTC>CTG		hypothetical protein LOC91775 precursor							99.0	98.0	98.0					3																	101540528		2203	4300	6503	SO:0001819	synonymous_variant	91775					extracellular region		g.chr3:101540528C>G	AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member C"""	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.1410C>G	3.37:g.101540528C>G						FAM55C_uc010hpn.2_Silent_p.L470L	p.L470L	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN			8	2047	+			470					A8K0X4|D3DN53|Q7Z2S8	Silent	SNP	ENST00000491511.2	37	c.1410C>G	CCDS2945.1																																																																																				PASS	0.567	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037		19	175	19	175	---	---	---	---
PHLDB2	90102	broad.mit.edu	37	3	111603110	111603110	+	Silent	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:111603110C>G	ENST00000431670.2	+	2	597	c.186C>G	c.(184-186)ctC>ctG	p.L62L	PHLDB2_ENST00000412622.1_Silent_p.L62L|PHLDB2_ENST00000477695.1_Silent_p.L62L|PHLDB2_ENST00000478922.1_Silent_p.L62L|PHLDB2_ENST00000481953.1_Silent_p.L62L|PHLDB2_ENST00000393923.3_Silent_p.L89L|PHLDB2_ENST00000393925.3_Silent_p.L62L	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	62						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)		p.L62L(2)|p.L89L(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						ATTTAACCCTCTCACAACCTG	0.478																																						uc010hqa.2																			3	Substitution - coding silent(3)		lung(3)	ovary(4)|skin(2)	6						c.(184-186)CTC>CTG		pleckstrin homology-like domain, family B,							140.0	145.0	143.0					3																	111603110		2203	4300	6503	SO:0001819	synonymous_variant	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603110C>G		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.186C>G	3.37:g.111603110C>G						PHLDB2_uc003dyc.2_Silent_p.L89L|PHLDB2_uc003dyd.2_Silent_p.L62L|PHLDB2_uc003dyg.2_Silent_p.L62L|PHLDB2_uc003dyh.2_Silent_p.L62L|PHLDB2_uc003dye.3_Silent_p.L62L|PHLDB2_uc003dyf.3_Silent_p.L62L	p.L62L	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN			2	597	+			62					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	ENST00000431670.2	37	c.186C>G	CCDS46886.1																																																																																				PASS	0.478	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		11	447	11	447	---	---	---	---
GAP43	2596	broad.mit.edu	37	3	115395016	115395016	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:115395016G>A	ENST00000305124.6	+	2	553	c.187G>A	c.(187-189)Gag>Aag	p.E63K	GAP43_ENST00000393780.3_Missense_Mutation_p.E99K	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	63					axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.E99K(1)|p.E63K(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		CCAAGCTGCTGAGGCTGAAGC	0.517																																						uc003ebq.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(187-189)GAG>AAG		growth associated protein 43 isoform 2							90.0	88.0	89.0					3																	115395016		2203	4300	6503	SO:0001583	missense	2596				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding	g.chr3:115395016G>A		CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"""neuron growth-associated protein 43"", ""neuromodulin"", ""nerve growth-related peptide GAP43"", ""axonal membrane protein GAP-43"", ""protein F1"", ""calmodulin-binding protein P-57"", ""neural phosphoprotein B-50"""	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.187G>A	3.37:g.115395016G>A	ENSP00000305010:p.Glu63Lys					GAP43_uc003ebr.2_Missense_Mutation_p.E99K	p.E63K	NM_002045	NP_002036	P17677	NEUM_HUMAN		GBM - Glioblastoma multiforme(114;0.164)	2	573	+			63					A8K0Y4	Missense_Mutation	SNP	ENST00000305124.6	37	c.187G>A	CCDS33830.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.366704	0.61513	.	.	ENSG00000172020	ENST00000305124;ENST00000393780	T;T	0.34472	1.39;1.36	4.77	4.77	0.60923	.	0.325449	0.36167	N	0.002755	T	0.47857	0.1468	L	0.46947	1.48	0.58432	D	0.999997	D;P	0.60575	0.988;0.919	P;P	0.54815	0.761;0.45	T	0.47071	-0.9145	10	0.56958	D	0.05	-15.2146	18.3341	0.90282	0.0:0.0:1.0:0.0	.	99;63	A8K0Y4;P17677	.;NEUM_HUMAN	K	63;99	ENSP00000305010:E63K;ENSP00000377372:E99K	ENSP00000305010:E63K	E	+	1	0	GAP43	116877706	1.000000	0.71417	0.993000	0.49108	0.126000	0.20510	4.414000	0.59802	2.628000	0.89032	0.655000	0.94253	GAG		PASS	0.517	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258216.2	NM_002045		9	130	9	130	---	---	---	---
SLC15A2	6565	broad.mit.edu	37	3	121649733	121649733	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:121649733G>C	ENST00000489711.1	+	18	1988	c.1600G>C	c.(1600-1602)Gat>Cat	p.D534H	SLC15A2_ENST00000465060.1_3'UTR|SLC15A2_ENST00000295605.2_Missense_Mutation_p.D503H	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	534					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)	p.D534H(1)		NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CCTGAGTACAGATACCTCTCT	0.388																																						uc003eep.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1600-1602)GAT>CAT		peptide transporter 2 isoform a	Cefadroxil(DB01140)						187.0	175.0	179.0					3																	121649733		2203	4300	6503	SO:0001583	missense	6565				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	g.chr3:121649733G>C	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1600G>C	3.37:g.121649733G>C	ENSP00000417085:p.Asp534His					SLC15A2_uc011bjn.1_Missense_Mutation_p.D503H	p.D534H	NM_021082	NP_066568	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	18	1753	+			534					A8K1A5|B4E2A7	Missense_Mutation	SNP	ENST00000489711.1	37	c.1600G>C	CCDS3007.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.234460	0.39498	.	.	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605	T;T	0.02944	4.39;4.1	5.42	4.53	0.55603	.	0.517332	0.22513	N	0.059073	T	0.05364	0.0142	L	0.43152	1.355	0.09310	N	1	P;B	0.52692	0.955;0.247	P;B	0.49528	0.614;0.326	T	0.26503	-1.0101	10	0.52906	T	0.07	-12.6499	10.3886	0.44156	0.0892:0.0:0.9108:0.0	.	503;534	B4E2A7;Q16348	.;S15A2_HUMAN	H	534;496;503	ENSP00000417085:D534H;ENSP00000295605:D503H	ENSP00000295605:D503H	D	+	1	0	SLC15A2	123132423	0.527000	0.26306	0.059000	0.19551	0.864000	0.49448	1.866000	0.39489	1.492000	0.48499	0.650000	0.86243	GAT		PASS	0.388	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		12	121	12	121	---	---	---	---
PARP15	165631	broad.mit.edu	37	3	122354848	122354848	+	Silent	SNP	C	C	G	rs371469508		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:122354848C>G	ENST00000464300.2	+	12	2004	c.1938C>G	c.(1936-1938)ctC>ctG	p.L646L	PARP15_ENST00000483793.1_Silent_p.L451L|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000310366.4_Silent_p.L412L|PARP15_ENST00000493645.1_Silent_p.L343L	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	646	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.L646L(1)|p.L412L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		CCACAGATCTCTTTGACTCAG	0.433																																						uc003efm.2																			2	Substitution - coding silent(2)		lung(2)	lung(3)|upper_aerodigestive_tract(1)|ovary(1)	5						c.(1936-1938)CTC>CTG		poly (ADP-ribose) polymerase family, member 15							131.0	106.0	114.0					3																	122354848		2203	4300	6503	SO:0001819	synonymous_variant	165631				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity	g.chr3:122354848C>G	AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"""Poly (ADP-ribose) polymerases"""	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.1938C>G	3.37:g.122354848C>G						PARP15_uc003efn.2_Silent_p.L451L|PARP15_uc003efo.1_Silent_p.L393L|PARP15_uc003efp.1_Silent_p.L412L|PARP15_uc011bjt.1_Silent_p.L343L	p.L646L	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	12	2004	+			624			PARP catalytic.		J3KR47|Q8N1K3	Silent	SNP	ENST00000464300.2	37	c.1938C>G	CCDS46893.1																																																																																				PASS	0.433	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355964.2	NM_152615		5	165	5	165	---	---	---	---
ALDH1L1	10840	broad.mit.edu	37	3	125855651	125855651	+	Missense_Mutation	SNP	C	C	G	rs375750290		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:125855651C>G	ENST00000393434.2	-	11	1649	c.1300G>C	c.(1300-1302)Gag>Cag	p.E434Q	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.E434Q|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.E444Q|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.E333Q|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.E434Q	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	434	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.E434Q(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TTGGCGCCCTCGGCATCCACG	0.592																																						uc003eim.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(1300-1302)GAG>CAG		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						109.0	96.0	100.0					3																	125855651		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125855651C>G	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1300G>C	3.37:g.125855651C>G	ENSP00000377083:p.Glu434Gln					ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.E333Q|ALDH1L1_uc003eio.2_Missense_Mutation_p.E136Q|ALDH1L1_uc010hsf.1_Missense_Mutation_p.E460Q	p.E434Q	NM_012190	NP_036322	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	11	1490	-			434			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.1300G>C	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	9.488	1.099882	0.20552	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431	T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03	3.67	3.67	0.42095	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.318273	0.29328	N	0.012464	T	0.59142	0.2172	N	0.10874	0.06	0.80722	D	1	B;B;B	0.26635	0.074;0.155;0.155	B;B;B	0.22753	0.041;0.037;0.025	T	0.58758	-0.7580	10	0.33141	T	0.24	.	13.6964	0.62582	0.0:1.0:0.0:0.0	.	333;486;434	E9PBX3;Q59G10;O75891	.;.;AL1L1_HUMAN	Q	444;434;333;434;434	ENSP00000273450:E444Q;ENSP00000420293:E434Q;ENSP00000395881:E333Q;ENSP00000377083:E434Q;ENSP00000377081:E434Q	ENSP00000273450:E444Q	E	-	1	0	ALDH1L1	127338341	1.000000	0.71417	0.144000	0.22314	0.002000	0.02628	6.951000	0.75983	2.347000	0.79759	0.467000	0.42956	GAG		PASS	0.592	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		3	20	3	20	---	---	---	---
UROC1	131669	broad.mit.edu	37	3	126218239	126218239	+	Silent	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:126218239C>T	ENST00000290868.2	-	13	1310	c.1257G>A	c.(1255-1257)gaG>gaA	p.E419E	UROC1_ENST00000383579.3_Silent_p.E479E	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	419					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)	p.E479E(1)|p.E419E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CACCTTTCTTCTCCACATCCG	0.602																																						uc003eiz.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1255-1257)GAG>GAA		urocanase domain containing 1 isoform 1							99.0	67.0	78.0					3																	126218239		2203	4300	6503	SO:0001819	synonymous_variant	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126218239C>T	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1257G>A	3.37:g.126218239C>T						UROC1_uc010hsi.1_Silent_p.E479E	p.E419E	NM_144639	NP_653240	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	13	1289	-			419					E9PE13|Q14C64|Q68CJ7	Silent	SNP	ENST00000290868.2	37	c.1257G>A	CCDS3038.1																																																																																				PASS	0.602	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		6	49	6	49	---	---	---	---
UROC1	131669	broad.mit.edu	37	3	126218994	126218994	+	Silent	SNP	C	C	G	rs370476247		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:126218994C>G	ENST00000290868.2	-	12	1202	c.1149G>C	c.(1147-1149)ctG>ctC	p.L383L	UROC1_ENST00000383579.3_Silent_p.L443L	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	383					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)	p.L443L(1)|p.L383L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CTTGCCTCCTCAGGCTGCAAC	0.612																																						uc003eiz.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1147-1149)CTG>CTC		urocanase domain containing 1 isoform 1							79.0	67.0	71.0					3																	126218994		2203	4300	6503	SO:0001819	synonymous_variant	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126218994C>G	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1149G>C	3.37:g.126218994C>G						UROC1_uc010hsi.1_Silent_p.L443L	p.L383L	NM_144639	NP_653240	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	12	1181	-			383					E9PE13|Q14C64|Q68CJ7	Silent	SNP	ENST00000290868.2	37	c.1149G>C	CCDS3038.1																																																																																				PASS	0.612	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		8	79	8	79	---	---	---	---
ACAD9	28976	broad.mit.edu	37	3	128615308	128615308	+	Silent	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:128615308G>A	ENST00000308982.7	+	5	564	c.483G>A	c.(481-483)caG>caA	p.Q161Q		NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	161						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)	p.Q161Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CTGAGGAGCAGAAAGCCAAAT	0.512																																						uc003ela.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(481-483)CAG>CAA		acyl-Coenzyme A dehydrogenase family, member 9							94.0	85.0	88.0					3																	128615308		2203	4300	6503	SO:0001819	synonymous_variant	28976					mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:128615308G>A	AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"""Mitochondrial respiratory chain complex assembly factors"""	21497	protein-coding gene	gene with protein product		611103	"""acyl-Coenzyme A dehydrogenase family, member 9"""			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.483G>A	3.37:g.128615308G>A						ACAD9_uc010hsw.1_Silent_p.Q38Q|ACAD9_uc011bks.1_Silent_p.Q38Q|ACAD9_uc003elb.2_Silent_p.Q38Q|ACAD9_uc003elc.1_5'Flank|ACAD9_uc003eld.1_5'Flank	p.Q161Q	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN			5	685	+			161					D3DNB8|Q8WXX3	Silent	SNP	ENST00000308982.7	37	c.483G>A	CCDS3053.1																																																																																				PASS	0.512	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358405.1	NM_014049		4	77	4	77	---	---	---	---
PLXND1	23129	broad.mit.edu	37	3	129282078	129282078	+	Silent	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:129282078C>T	ENST00000324093.4	-	26	4705	c.4527G>A	c.(4525-4527)acG>acA	p.T1509T	PLXND1_ENST00000393239.1_Silent_p.T1509T	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1509					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.T1509T(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCTCCCCCACCGTCTCCTGAG	0.627																																					Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(4525-4527)ACG>ACA		plexin D1 precursor							45.0	41.0	42.0					3																	129282078		2203	4299	6502	SO:0001819	synonymous_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129282078C>T	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4527G>A	3.37:g.129282078C>T						PLXND1_uc011blb.1_Silent_p.T177T	p.T1509T	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			26	4627	-			1509			Cytoplasmic (Potential).		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	c.4527G>A	CCDS33854.1																																																																																				PASS	0.627	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		4	37	4	37	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130318603	130318603	+	Silent	SNP	C	C	A	rs373136353	byFrequency	TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:130318603C>A	ENST00000358511.6	+	19	4633	c.4602C>A	c.(4600-4602)ggC>ggA	p.G1534G	COL6A6_ENST00000453409.2_Silent_p.G1534G	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1534	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G1534G(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TTTGACAGGGCAGAAGAGGCT	0.498																																						uc010htl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(4600-4602)GGC>GGA		collagen type VI alpha 6 precursor							52.0	55.0	54.0					3																	130318603		1867	4111	5978	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130318603C>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.4602C>A	3.37:g.130318603C>A						COL6A6_uc003eni.3_5'UTR	p.G1534G	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			19	4633	+			1534			Triple-helical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.4602C>A	CCDS46911.1																																																																																				PASS	0.498	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		14	88	14	88	---	---	---	---
ASTE1	28990	broad.mit.edu	37	3	130735094	130735094	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:130735094C>T	ENST00000264992.3	-	5	2044	c.1603G>A	c.(1603-1605)Gac>Aac	p.D535N	ATP2C1_ENST00000328560.8_3'UTR|ATP2C1_ENST00000533801.2_3'UTR|ATP2C1_ENST00000504381.1_3'UTR|ATP2C1_ENST00000359644.3_3'UTR|ATP2C1_ENST00000513801.1_3'UTR|ASTE1_ENST00000514044.1_Missense_Mutation_p.D535N|ATP2C1_ENST00000393221.4_3'UTR|ATP2C1_ENST00000507488.2_3'UTR|ATP2C1_ENST00000422190.2_3'UTR	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	535					DNA repair (GO:0006281)		nuclease activity (GO:0004518)	p.D535N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						GTGTCTAAGTCCAGTCTTGTG	0.512																																						uc003env.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1603-1605)GAC>AAC		asteroid homolog 1							191.0	166.0	174.0					3																	130735094		2203	4300	6503	SO:0001583	missense	28990				DNA repair		nuclease activity	g.chr3:130735094C>T	AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.1603G>A	3.37:g.130735094C>T	ENSP00000264992:p.Asp535Asn					ATP2C1_uc011blh.1_3'UTR|ATP2C1_uc011bli.1_3'UTR|ATP2C1_uc003enm.2_3'UTR|ATP2C1_uc003enn.2_3'UTR|ATP2C1_uc003enp.2_3'UTR|ATP2C1_uc003enr.2_3'UTR|ATP2C1_uc003ens.2_3'UTR|ATP2C1_uc003ent.2_3'UTR|ASTE1_uc010htm.1_Missense_Mutation_p.D535N|ASTE1_uc011blj.1_RNA	p.D535N	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN			5	2045	-			535					B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	ENST00000264992.3	37	c.1603G>A	CCDS3068.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.808670	0.31961	.	.	ENSG00000034533	ENST00000514044;ENST00000264992	.	.	.	5.71	3.91	0.45181	.	0.175496	0.64402	D	0.000011	T	0.46229	0.1382	L	0.35723	1.085	0.39772	D	0.972176	B;B	0.27625	0.183;0.183	B;B	0.29942	0.109;0.066	T	0.39461	-0.9613	9	0.20046	T	0.44	-13.4766	12.5218	0.56065	0.0:0.8614:0.0:0.1386	.	535;535	D6RG30;Q2TB18	.;ASTE1_HUMAN	N	535	.	ENSP00000264992:D535N	D	-	1	0	ASTE1	132217784	1.000000	0.71417	0.889000	0.34880	0.073000	0.16967	3.530000	0.53539	1.415000	0.47037	0.655000	0.94253	GAC		PASS	0.512	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065		6	250	6	250	---	---	---	---
PLS1	5357	broad.mit.edu	37	3	142389956	142389956	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:142389956C>G	ENST00000337777.3	+	4	569	c.356C>G	c.(355-357)tCt>tGt	p.S119C	PLS1_ENST00000457734.2_Missense_Mutation_p.S119C|PLS1_ENST00000497002.1_Missense_Mutation_p.S119C|RN7SKP25_ENST00000362449.1_RNA	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	119	Actin-binding 1.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.S119C(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						ACACAGCATTCTTATTCAGGT	0.348																																						uc010huv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(355-357)TCT>TGT		plastin 1							185.0	178.0	181.0					3																	142389956		2203	4299	6502	SO:0001583	missense	5357					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr3:142389956C>G	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"""EF-hand domain containing"""	9090	protein-coding gene	gene with protein product		602734	"""plastin 1 (I isoform)"""			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.356C>G	3.37:g.142389956C>G	ENSP00000336831:p.Ser119Cys					PLS1_uc003euz.2_Missense_Mutation_p.S119C|PLS1_uc003eva.2_Missense_Mutation_p.S119C	p.S119C	NM_001145319	NP_001138791	Q14651	PLSI_HUMAN			4	515	+			119			Actin-binding 1.		A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	ENST00000337777.3	37	c.356C>G	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858996	0.91433	.	.	ENSG00000120756	ENST00000457734;ENST00000475296;ENST00000476044;ENST00000464320;ENST00000337777;ENST00000497002	T;T;T;T;T;T	0.76578	0.64;-0.26;-1.03;-0.17;0.64;0.64	5.74	5.74	0.90152	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	D	0.90786	0.7107	M	0.90309	3.105	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.91936	0.5559	10	0.87932	D	0	-15.2655	19.9173	0.97066	0.0:1.0:0.0:0.0	.	119	Q14651	PLSI_HUMAN	C	119;119;40;119;119;119	ENSP00000387890:S119C;ENSP00000417311:S119C;ENSP00000417481:S40C;ENSP00000418880:S119C;ENSP00000336831:S119C;ENSP00000418700:S119C	ENSP00000336831:S119C	S	+	2	0	PLS1	143872646	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.729000	0.84864	2.707000	0.92482	0.563000	0.77884	TCT		PASS	0.348	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670		5	452	5	452	---	---	---	---
DHX36	170506	broad.mit.edu	37	3	154001039	154001039	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:154001039G>A	ENST00000496811.1	-	20	2394	c.2314C>T	c.(2314-2316)Cgt>Tgt	p.R772C	DHX36_ENST00000329463.5_Missense_Mutation_p.R758C|DHX36_ENST00000544526.1_Missense_Mutation_p.R758C|DHX36_ENST00000308361.6_Missense_Mutation_p.R743C	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	772					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)	p.R772C(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTGAAACCACGTCGCCTAGCC	0.393																																						uc003ezy.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2314-2316)CGT>TGT		DEAH (Asp-Glu-Ala-His) box polypeptide 36							113.0	112.0	113.0					3																	154001039		2203	4300	6503	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154001039G>A	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.2314C>T	3.37:g.154001039G>A	ENSP00000417078:p.Arg772Cys					DHX36_uc010hvq.2_Missense_Mutation_p.R758C|DHX36_uc003ezz.3_Missense_Mutation_p.R743C	p.R772C	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		20	2395	-			772					B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.2314C>T	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762043	0.49468	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.03689	4.02;3.88;3.84;3.85;4.02	5.88	5.88	0.94601	.	0.103393	0.64402	D	0.000001	T	0.06690	0.0171	M	0.71036	2.16	0.58432	D	0.999992	B;B;B	0.34214	0.442;0.324;0.315	B;B;B	0.25759	0.063;0.026;0.029	T	0.03863	-1.0997	10	0.66056	D	0.02	.	15.3152	0.74069	0.0685:0.0:0.9315:0.0	.	758;743;772	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	C	772;743;758;758;686	ENSP00000417078:R772C;ENSP00000309296:R743C;ENSP00000444247:R758C;ENSP00000330113:R758C;ENSP00000419862:R686C	ENSP00000309296:R743C	R	-	1	0	DHX36	155483733	1.000000	0.71417	0.970000	0.41538	0.842000	0.47809	3.821000	0.55700	2.780000	0.95670	0.655000	0.94253	CGT		PASS	0.393	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		118	71	118	71	---	---	---	---
GPR149	344758	broad.mit.edu	37	3	154055653	154055653	+	Silent	SNP	G	G	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:154055653G>T	ENST00000389740.2	-	4	2130	c.2031C>A	c.(2029-2031)ccC>ccA	p.P677P		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	677					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P677P(2)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GATTACTGGTGGGCAAAAAGA	0.458																																						uc003faa.2																			2	Substitution - coding silent(2)		lung(2)	ovary(6)	6						c.(2029-2031)CCC>CCA		G protein-coupled receptor 149							255.0	235.0	242.0					3																	154055653		1933	4137	6070	SO:0001819	synonymous_variant	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154055653G>T	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.2031C>A	3.37:g.154055653G>T							p.P677P	NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		4	2131	-			677			Cytoplasmic (Potential).			Silent	SNP	ENST00000389740.2	37	c.2031C>A	CCDS43162.1																																																																																				PASS	0.458	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		86	419	86	419	---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155232559	155232559	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:155232559C>A	ENST00000340059.7	-	11	1548	c.1549G>T	c.(1549-1551)Gca>Tca	p.A517S	PLCH1_ENST00000460012.1_Missense_Mutation_p.A499S|PLCH1_ENST00000414191.1_Missense_Mutation_p.A499S|PLCH1_ENST00000447496.2_Missense_Mutation_p.A517S|PLCH1_ENST00000334686.6_Missense_Mutation_p.A499S|PLCH1_ENST00000494598.1_Missense_Mutation_p.A517S	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	517					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.A517S(1)|p.A499S(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTCAGTAGTGCCCGCACTGTG	0.408																																						uc011bok.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(1549-1551)GCA>TCA		phospholipase C eta 1 isoform a							104.0	90.0	95.0					3																	155232559		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155232559C>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1549G>T	3.37:g.155232559C>A	ENSP00000345988:p.Ala517Ser					PLCH1_uc011boj.1_Missense_Mutation_p.A517S|PLCH1_uc011bol.1_Missense_Mutation_p.A499S	p.A517S	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		11	1826	-			517					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.1549G>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772348	0.90108	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	5.8	5.8	0.92144	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.273429	0.40640	N	0.001053	T	0.61602	0.2360	M	0.71581	2.175	0.80722	D	1	P;D;P	0.59357	0.911;0.985;0.739	P;P;B	0.57720	0.756;0.826;0.372	T	0.58148	-0.7687	10	0.40728	T	0.16	.	20.063	0.97692	0.0:1.0:0.0:0.0	.	499;517;517	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	S	517;499;517;517;499;499	ENSP00000419100:A517S;ENSP00000417502:A499S;ENSP00000402759:A517S;ENSP00000345988:A517S;ENSP00000335469:A499S;ENSP00000412977:A499S	ENSP00000335469:A499S	A	-	1	0	PLCH1	156715253	1.000000	0.71417	0.999000	0.59377	0.877000	0.50540	7.291000	0.78721	2.735000	0.93741	0.655000	0.94253	GCA		PASS	0.408	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		17	139	17	139	---	---	---	---
BCHE	590	broad.mit.edu	37	3	165491294	165491294	+	Splice_Site	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:165491294C>T	ENST00000264381.3	-	4	1851	c.1685G>A	c.(1684-1686)gGa>gAa	p.G562E	BCHE_ENST00000540653.1_Splice_Site_p.G24E	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	562					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)	p.G562E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	ATCAATATTTCCTGTAAAATA	0.313																																						uc003fem.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1684-1686)GGA>GAA		butyrylcholinesterase precursor	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						70.0	66.0	68.0					3																	165491294		2202	4299	6501	SO:0001630	splice_region_variant	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165491294C>T	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1685-1G>A	3.37:g.165491294C>T						BCHE_uc003fen.3_RNA	p.G562E	NM_000055	NP_000046	P06276	CHLE_HUMAN			4	1845	-			562					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.1685G>A	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.794007	0.31777	.	.	ENSG00000114200	ENST00000264381;ENST00000479451;ENST00000540653	T;T;T	0.76578	-0.12;-1.01;-1.03	4.88	4.01	0.46588	Acetylcholinesterase, tetramerisation (1);	0.213284	0.40385	N	0.001114	T	0.66548	0.2800	L	0.45137	1.4	0.43662	D	0.996089	B	0.09022	0.002	B	0.04013	0.001	T	0.58493	-0.7627	10	0.07482	T	0.82	.	12.6218	0.56607	0.0:0.9189:0.0:0.0811	.	562	P06276	CHLE_HUMAN	E	562;92;24	ENSP00000264381:G562E;ENSP00000418325:G92E;ENSP00000443583:G24E	ENSP00000264381:G562E	G	-	2	0	BCHE	166973988	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.979000	0.40608	1.168000	0.42723	0.650000	0.86243	GGA		PASS	0.313	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1		Missense_Mutation	5	100	5	100	---	---	---	---
SERPINI1	5274	broad.mit.edu	37	3	167507060	167507060	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:167507060C>G	ENST00000295777.5	+	2	575	c.144C>G	c.(142-144)ttC>ttG	p.F48L	SERPINI1_ENST00000446050.2_Missense_Mutation_p.F48L	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	48					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.F48L(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						ATATTCTCTTCTCTCCATTGA	0.458																																						uc003ffa.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(142-144)TTC>TTG		neuroserpin precursor							102.0	101.0	101.0					3																	167507060		2203	4300	6503	SO:0001583	missense	5274				central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167507060C>G	Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"""Serine (or cysteine) peptidase inhibitors"""	8943	protein-coding gene	gene with protein product		602445	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"""	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.144C>G	3.37:g.167507060C>G	ENSP00000295777:p.Phe48Leu					SERPINI1_uc003ffb.3_Missense_Mutation_p.F48L	p.F48L	NM_001122752	NP_001116224	Q99574	NEUS_HUMAN			2	342	+			48					A8K217|D3DNP1|Q6AHZ4	Missense_Mutation	SNP	ENST00000295777.5	37	c.144C>G	CCDS3203.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369843	0.61624	.	.	ENSG00000163536	ENST00000472941;ENST00000446050;ENST00000295777;ENST00000472747	D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03	5.23	2.43	0.29744	Serpin domain (3);	0.042713	0.85682	D	0.000000	D	0.89241	0.6659	M	0.64676	1.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87077	0.2163	10	0.42905	T	0.14	.	10.2386	0.43299	0.0:0.7831:0.0:0.2169	.	48	Q99574	NEUS_HUMAN	L	48	ENSP00000420133:F48L;ENSP00000397373:F48L;ENSP00000295777:F48L;ENSP00000420561:F48L	ENSP00000295777:F48L	F	+	3	2	SERPINI1	168989754	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	1.619000	0.36965	0.682000	0.31407	-0.150000	0.13652	TTC		PASS	0.458	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1			24	317	24	317	---	---	---	---
LRRIQ4	344657	broad.mit.edu	37	3	169540078	169540078	+	Silent	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:169540078C>T	ENST00000340806.6	+	1	369	c.369C>T	c.(367-369)ctC>ctT	p.L123L		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	123								p.L123L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TGCGCGAGCTCCGGCTCTACC	0.582																																						uc003fgb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(367-369)CTC>CTT		leucine-rich repeats and IQ motif containing 4							53.0	59.0	57.0					3																	169540078		2072	4204	6276	SO:0001819	synonymous_variant	344657							g.chr3:169540078C>T		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.369C>T	3.37:g.169540078C>T							p.L123L	NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN			1	369	+			123			LRR 5.			Silent	SNP	ENST00000340806.6	37	c.369C>T	CCDS46951.1																																																																																				PASS	0.582	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		35	261	35	261	---	---	---	---
PRKCI	5584	broad.mit.edu	37	3	170016837	170016837	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:170016837G>T	ENST00000295797.4	+	17	1947	c.1642G>T	c.(1642-1644)Ggt>Tgt	p.G548C		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	548	AGC-kinase C-terminal.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.G539C(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	TGGGGAATTTGGTTTGGACAA	0.368																																						uc003fgs.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(1642-1644)GGT>TGT		protein kinase C, iota							88.0	87.0	87.0					3																	170016837		2203	4300	6503	SO:0001583	missense	5584				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	g.chr3:170016837G>T		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.1642G>T	3.37:g.170016837G>T	ENSP00000295797:p.Gly548Cys					PRKCI_uc003fgt.2_Missense_Mutation_p.G103C	p.G548C	NM_002740	NP_002731	P41743	KPCI_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		17	1880	+	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		548			AGC-kinase C-terminal.		D3DNQ4|Q8WW06	Missense_Mutation	SNP	ENST00000295797.4	37	c.1642G>T	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835507	0.91117	.	.	ENSG00000163558	ENST00000295797	T	0.62639	0.01	5.22	5.22	0.72569	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.050962	0.85682	D	0.000000	T	0.69922	0.3165	L	0.56396	1.775	0.80722	D	1	P	0.47034	0.889	P	0.51016	0.656	T	0.68356	-0.5430	9	.	.	.	.	19.1471	0.93473	0.0:0.0:1.0:0.0	.	548	P41743	KPCI_HUMAN	C	548	ENSP00000295797:G548C	.	G	+	1	0	PRKCI	171499531	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.435000	0.97529	2.578000	0.87016	0.650000	0.86243	GGT		PASS	0.368	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740		8	188	8	188	---	---	---	---
PLD1	5337	broad.mit.edu	37	3	171405270	171405270	+	Silent	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:171405270C>T	ENST00000351298.4	-	15	1770	c.1644G>A	c.(1642-1644)ctG>ctA	p.L548L	PLD1_ENST00000356327.5_Silent_p.L548L|PLD1_ENST00000342215.6_Intron|PLD1_ENST00000340989.4_Silent_p.L548L	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	548	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.L548L(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CTATTCCTTTCAGTTTTGAAT	0.433																																					NSCLC(149;2174 3517 34058)	uc003fhs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(1642-1644)CTG>CTA		phospholipase D1 isoform a	Choline(DB00122)						152.0	143.0	146.0					3																	171405270		2203	4300	6503	SO:0001819	synonymous_variant	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171405270C>T	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1644G>A	3.37:g.171405270C>T						PLD1_uc003fht.2_Silent_p.L548L	p.L548L	NM_002662	NP_002653	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		15	1760	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		548			Catalytic.			Silent	SNP	ENST00000351298.4	37	c.1644G>A	CCDS3216.1																																																																																				PASS	0.433	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		10	428	10	428	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		PASS	0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			11	171	11	171	---	---	---	---
FAM131A	131408	broad.mit.edu	37	3	184062659	184062659	+	Silent	SNP	A	A	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:184062659A>G	ENST00000310585.4	+	3	2273	c.909A>G	c.(907-909)ccA>ccG	p.P303P	FAM131A_ENST00000340957.5_Silent_p.P249P|FAM131A_ENST00000418281.1_Intron|FAM131A_ENST00000453072.1_Silent_p.P249P|FAM131A_ENST00000450976.1_Silent_p.P249P|FAM131A_ENST00000383847.2_Silent_p.P334P|EIF2B5_ENST00000444495.1_Intron			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	303						extracellular region (GO:0005576)		p.P303P(1)|p.P334P(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTGCCCACCACTAACGGGCA	0.637																																						uc003fog.2																			2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(907-909)CCA>CCG		hypothetical protein LOC131408 precursor							24.0	22.0	23.0					3																	184062659		2202	4300	6502	SO:0001819	synonymous_variant	131408					extracellular region		g.chr3:184062659A>G	BC026221	CCDS3262.1, CCDS3262.2, CCDS54689.1	3q27.1	2007-03-20	2007-03-20	2007-03-20	ENSG00000175182	ENSG00000175182			28308	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 40"""	C3orf40		12975309	Standard	NM_144635		Approved	MGC21688	uc003foe.3	Q6UXB0	OTTHUMG00000156206	ENST00000310585.4:c.909A>G	3.37:g.184062659A>G						FAM131A_uc003fob.1_Intron|FAM131A_uc003foc.2_Silent_p.P249P|FAM131A_uc003foe.2_Silent_p.P249P	p.P303P	NM_144635	NP_653236	Q6UXB0	F131A_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		3	2273	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		303					D3DNT6|G5E9B1|Q8TA84	Silent	SNP	ENST00000310585.4	37	c.909A>G																																																																																					PASS	0.637	FAM131A-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000343462.1	NM_144635		11	124	11	124	---	---	---	---
FETUB	26998	broad.mit.edu	37	3	186362640	186362640	+	Silent	SNP	T	T	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:186362640T>C	ENST00000265029.3	+	4	626	c.525T>C	c.(523-525)ctT>ctC	p.L175L	FETUB_ENST00000450521.1_Silent_p.L175L|FETUB_ENST00000382136.3_Silent_p.L138L|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382134.3_Silent_p.L110L|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000539949.1_Silent_p.L27L|RP11-134F2.2_ENST00000455926.1_RNA	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	175	Cystatin fetuin-B-type 2. {ECO:0000255|PROSITE-ProRule:PRU00862}.				binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)	p.L175L(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CCGAGTCTCTTGCGAAATACA	0.473																																						uc010hyq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(523-525)CTT>CTC		fetuin B precursor							112.0	107.0	109.0					3																	186362640		2203	4300	6503	SO:0001819	synonymous_variant	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186362640T>C	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.525T>C	3.37:g.186362640T>C						FETUB_uc011brz.1_Silent_p.L27L|FETUB_uc003fqn.2_Silent_p.L175L|FETUB_uc003fqo.2_Silent_p.L70L|FETUB_uc010hyr.2_Silent_p.L138L|FETUB_uc010hys.2_Silent_p.L27L|FETUB_uc003fqp.3_Silent_p.L110L	p.L175L	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	5	786	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		175			Cystatin fetuin-B-type 2.		B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Silent	SNP	ENST00000265029.3	37	c.525T>C	CCDS3279.1																																																																																				PASS	0.473	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		29	377	29	377	---	---	---	---
ATP13A5	344905	broad.mit.edu	37	3	193028476	193028476	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:193028476T>C	ENST00000342358.4	-	21	2593	c.2476A>G	c.(2476-2478)Atg>Gtg	p.M826V	ATP13A5-AS1_ENST00000414634.1_RNA|ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	826						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.M826V(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CCAGGAGACATTCTTGCAAAA	0.348																																						uc011bsq.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|large_intestine(2)	11						c.(2476-2478)ATG>GTG		ATPase type 13A5							106.0	98.0	101.0					3																	193028476		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193028476T>C	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.2476A>G	3.37:g.193028476T>C	ENSP00000341942:p.Met826Val						p.M826V	NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	21	2476	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		826					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.2476A>G	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	T	17.56	3.419654	0.62622	.	.	ENSG00000187527	ENST00000342358	T	0.66280	-0.2	5.78	5.78	0.91487	HAD-like domain (2);	0.056781	0.64402	D	0.000001	T	0.58864	0.2152	L	0.42686	1.345	0.47214	D	0.999355	P	0.36354	0.549	B	0.40444	0.329	T	0.58869	-0.7560	10	0.39692	T	0.17	-30.5217	14.3442	0.66649	0.0:0.0:0.0:1.0	.	826	Q4VNC0	AT135_HUMAN	V	826	ENSP00000341942:M826V	ENSP00000341942:M826V	M	-	1	0	ATP13A5	194511170	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.596000	0.74113	2.333000	0.79357	0.533000	0.62120	ATG		PASS	0.348	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		23	196	23	196	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195487765	195487765	+	Silent	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:195487765G>A	ENST00000346145.4	-	15	2169	c.2130C>T	c.(2128-2130)aaC>aaT	p.N710N	MUC4_ENST00000463781.3_Silent_p.N4946N|MUC4_ENST00000349607.4_Silent_p.N659N|MUC4_ENST00000475231.1_Silent_p.N4894N	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1703					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.N710N(3)|p.N4946N(3)|p.N4818N(3)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGGGTGGCGTTCGCCTGCT	0.582																																						uc011bto.1																			9	Substitution - coding silent(9)		lung(3)|large_intestine(3)|prostate(3)		0						c.(14452-14454)AAC>AAT		mucin 4 isoform a							95.0	86.0	89.0					3																	195487765		2203	4300	6503	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195487765G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.2130C>T	3.37:g.195487765G>A						MUC4_uc003fuz.2_Silent_p.N544N|MUC4_uc003fva.2_Silent_p.N426N|MUC4_uc003fvb.2_Silent_p.N462N|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Silent_p.N462N|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Silent_p.N426N|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Silent_p.N510N|MUC4_uc011bti.1_Silent_p.N510N|MUC4_uc011btj.1_Silent_p.N687N|MUC4_uc011btk.1_Silent_p.N426N|MUC4_uc011btl.1_Silent_p.N455N|MUC4_uc011btm.1_Silent_p.N635N|MUC4_uc011btn.1_Silent_p.N426N|MUC4_uc003fvo.2_Silent_p.N710N|MUC4_uc003fvp.2_Silent_p.N659N	p.N4818N	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	17	14914	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1703					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000346145.4	37	c.14454C>T	CCDS3310.1																																																																																				PASS	0.582	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		14	202	14	202	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195515857	195515857	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:195515857G>A	ENST00000463781.3	-	2	3053	c.2594C>T	c.(2593-2595)tCt>tTt	p.S865F	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S865F	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	870	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.S865F(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GACGATCGAAGACGCCATTCC	0.587																																						uc011bto.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2593-2595)TCT>TTT		mucin 4 isoform a							66.0	70.0	69.0					3																	195515857		2095	4198	6293	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195515857G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2594C>T	3.37:g.195515857G>A	ENSP00000417498:p.Ser865Phe					MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.S747F	p.S865F	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	3054	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	870			Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.2594C>T	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	7.545	0.661571	0.14645	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.48836	0.8;0.82	2.78	2.78	0.32641	.	1.183160	0.06260	N	0.693658	T	0.52125	0.1715	N	0.19112	0.55	0.09310	N	1	D;D	0.89917	0.997;1.0	D;D	0.65987	0.936;0.94	T	0.49790	-0.8902	10	0.56958	D	0.05	-8.1738	9.3672	0.38232	0.0:0.0:1.0:0.0	.	865;870	E7ESK3;Q99102	.;MUC4_HUMAN	F	865;865;839	ENSP00000417498:S865F;ENSP00000420243:S865F	ENSP00000376209:S839F	S	-	2	0	MUC4	197000252	0.000000	0.05858	0.002000	0.10522	0.018000	0.09664	0.188000	0.17018	1.875000	0.54330	0.579000	0.79373	TCT		PASS	0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		10	98	10	98	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195515959	195515959	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:195515959G>A	ENST00000463781.3	-	2	2951	c.2492C>T	c.(2491-2493)tCa>tTa	p.S831L	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S831L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	836	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.S831L(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGGTTTGATGAAAACCTTGT	0.567																																						uc011bto.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2491-2493)TCA>TTA		mucin 4 isoform a							76.0	84.0	81.0					3																	195515959		2134	4246	6380	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195515959G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2492C>T	3.37:g.195515959G>A	ENSP00000417498:p.Ser831Leu					MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.S713L	p.S831L	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	2952	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	836			Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.2492C>T	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	7.458	0.643997	0.14451	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.47869	0.83;0.84	2.74	1.87	0.25490	.	1.528260	0.04343	N	0.354380	T	0.45696	0.1355	N	0.22421	0.69	0.09310	N	1	D;D	0.62365	0.982;0.991	P;P	0.55011	0.624;0.766	T	0.36696	-0.9737	10	0.30854	T	0.27	-1.0007	5.7025	0.17891	0.1518:0.0:0.8482:0.0	.	831;836	E7ESK3;Q99102	.;MUC4_HUMAN	L	831;831;805	ENSP00000417498:S831L;ENSP00000420243:S831L	ENSP00000376209:S805L	S	-	2	0	MUC4	197000354	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.946000	0.29069	0.731000	0.32448	0.627000	0.83407	TCA		PASS	0.567	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		23	202	23	202	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195517057	195517057	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:195517057G>A	ENST00000463781.3	-	2	1853	c.1394C>T	c.(1393-1395)cCt>cTt	p.P465L	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P465L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	470					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.P465L(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCTCTCATGAGGCCGTCCTGT	0.493																																						uc011bto.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1393-1395)CCT>CTT		mucin 4 isoform a							178.0	175.0	176.0					3																	195517057		1963	4140	6103	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195517057G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.1394C>T	3.37:g.195517057G>A	ENSP00000417498:p.Pro465Leu					MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.P347L	p.P465L	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	1854	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	470					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.1394C>T	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	4.973	0.180793	0.09443	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.57595	0.39;0.42	2.11	2.11	0.27256	.	1.477220	0.05199	U	0.504540	T	0.37128	0.0992	L	0.29908	0.895	0.09310	N	1	P;P	0.51933	0.949;0.753	B;B	0.37304	0.246;0.13	T	0.29366	-1.0014	10	0.27785	T	0.31	.	7.8575	0.29491	0.0:0.0:1.0:0.0	.	465;470	E7ESK3;Q99102	.;MUC4_HUMAN	L	465;465;439	ENSP00000417498:P465L;ENSP00000420243:P465L	ENSP00000376209:P439L	P	-	2	0	MUC4	197001452	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	0.067000	0.14510	1.498000	0.48600	0.274000	0.19336	CCT		PASS	0.493	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		55	514	55	514	---	---	---	---
DLG1	1739	broad.mit.edu	37	3	196792249	196792249	+	Silent	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:196792249C>T	ENST00000419354.1	-	23	2590	c.2304G>A	c.(2302-2304)caG>caA	p.Q768Q	DLG1_ENST00000448528.2_Silent_p.Q768Q|DLG1_ENST00000452595.1_Silent_p.Q652Q|DLG1_ENST00000314062.3_Silent_p.Q717Q|DLG1_ENST00000392382.2_Silent_p.Q735Q|DLG1_ENST00000357674.4_Silent_p.Q757Q|DLG1_ENST00000450955.1_Silent_p.Q757Q|DLG1_ENST00000443183.1_Silent_p.Q664Q|DLG1_ENST00000346964.2_Silent_p.Q790Q|DLG1_ENST00000422288.1_Silent_p.Q717Q			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	768	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)	p.Q790Q(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		CTTTTTCCATCTGCTCTCTTG	0.353																																						uc003fxo.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(2302-2304)CAG>CAA		discs, large homolog 1 isoform 1							190.0	189.0	189.0					3																	196792249		2203	4300	6503	SO:0001819	synonymous_variant	1739				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	g.chr3:196792249C>T	U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.2304G>A	3.37:g.196792249C>T						DLG1_uc011bub.1_Silent_p.Q664Q|DLG1_uc011buc.1_Silent_p.Q652Q|DLG1_uc011bud.1_Silent_p.Q451Q|DLG1_uc003fxn.3_Silent_p.Q790Q|DLG1_uc011bue.1_Silent_p.Q756Q|DLG1_uc010ial.2_Silent_p.Q768Q	p.Q768Q	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)	23	2494	-	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	768			Guanylate kinase-like.		A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Silent	SNP	ENST00000419354.1	37	c.2304G>A	CCDS43194.1																																																																																				PASS	0.353	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		48	448	48	448	---	---	---	---
IQCG	84223	broad.mit.edu	37	3	197665535	197665535	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr3:197665535G>C	ENST00000265239.6	-	5	823	c.399C>G	c.(397-399)atC>atG	p.I133M	IQCG_ENST00000453254.1_Missense_Mutation_p.I133M|IQCG_ENST00000455191.1_Missense_Mutation_p.I133M|IQCG_ENST00000480302.1_5'UTR	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	133						extracellular vesicular exosome (GO:0070062)		p.I133M(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		CTCTGTGTCTGATTTCTGGCA	0.438																																						uc003fyo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(397-399)ATC>ATG		IQ motif containing G							265.0	271.0	269.0					3																	197665535		2203	4300	6503	SO:0001583	missense	84223							g.chr3:197665535G>C	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.399C>G	3.37:g.197665535G>C	ENSP00000265239:p.Ile133Met					IQCG_uc003fyn.2_Missense_Mutation_p.I35M|IQCG_uc003fyp.2_Missense_Mutation_p.I133M|IQCG_uc003fyq.3_Missense_Mutation_p.I133M	p.I133M	NM_001134435	NP_001127907	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	4	545	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		133					Q9BST2|Q9HAG8	Missense_Mutation	SNP	ENST00000265239.6	37	c.399C>G	CCDS3331.1	.	.	.	.	.	.	.	.	.	.	G	9.247	1.039839	0.19669	.	.	ENSG00000114473	ENST00000265239;ENST00000455191;ENST00000453254;ENST00000416896	T;T;T;T	0.46063	0.88;0.88;1.03;0.89	5.5	3.66	0.41972	.	2.770500	0.00870	N	0.002008	T	0.45994	0.1370	M	0.63428	1.95	0.09310	N	1	B;B	0.24675	0.038;0.109	B;B	0.21708	0.036;0.019	T	0.31806	-0.9930	10	0.33141	T	0.24	-1.035	10.207	0.43118	0.0:0.1481:0.6978:0.1541	.	133;133	C9JKX8;Q9H095	.;IQCG_HUMAN	M	133;133;133;114	ENSP00000265239:I133M;ENSP00000407736:I133M;ENSP00000389897:I133M;ENSP00000406411:I114M	ENSP00000265239:I133M	I	-	3	3	IQCG	199149932	0.789000	0.28775	0.002000	0.10522	0.152000	0.21847	3.102000	0.50291	0.775000	0.33450	0.558000	0.71614	ATC		PASS	0.438	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263		686	232	686	232	---	---	---	---
ADRA2C	152	broad.mit.edu	37	4	3768879	3768879	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr4:3768879C>G	ENST00000330055.5	+	1	755	c.546C>G	c.(544-546)atC>atG	p.I182M	ADRA2C_ENST00000509482.1_Missense_Mutation_p.I182M	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	182					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.I182M(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CGGCCGTCATCTCCTTCCCGC	0.672																																					Esophageal Squamous(12;454 628 4517 14479)	uc003ghm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(544-546)ATC>ATG		alpha-2C-adrenergic receptor	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						24.0	25.0	25.0					4																	3768879		2196	4296	6492	SO:0001583	missense	152				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity	g.chr4:3768879C>G	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"""GPCR / Class A : Adrenoceptors : alpha"""	283	protein-coding gene	gene with protein product		104250	"""adrenergic, alpha-2C-, receptor"""	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.546C>G	4.37:g.3768879C>G	ENSP00000386069:p.Ile182Met					ADRA2C_uc010icx.2_Missense_Mutation_p.I182M	p.I182M	NM_000683	NP_000674	P18825	ADA2C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	584	+			182			Helical; Name=4; (By similarity).		P35369|Q9HB49	Missense_Mutation	SNP	ENST00000330055.5	37	c.546C>G	CCDS47004.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155555	0.57259	.	.	ENSG00000184160	ENST00000509482;ENST00000330055	T;T	0.74209	-0.82;-0.82	3.37	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.85531	0.5718	M	0.85630	2.765	0.58432	D	0.999999	D;D	0.89917	1.0;0.996	D;D	0.83275	0.996;0.985	D	0.85840	0.1397	9	0.87932	D	0	.	10.795	0.46455	0.191:0.809:0.0:0.0	.	182;182	D6RGL0;P18825	.;ADA2C_HUMAN	M	182	ENSP00000426268:I182M;ENSP00000386069:I182M	ENSP00000386069:I182M	I	+	3	3	ADRA2C	3738677	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	1.957000	0.40392	0.585000	0.29608	0.561000	0.74099	ATC		PASS	0.672	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	NM_000683		3	13	3	13	---	---	---	---
JAKMIP1	152789	broad.mit.edu	37	4	6050631	6050631	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr4:6050631G>C	ENST00000409021.3	-	16	2430	c.1981C>G	c.(1981-1983)Cag>Gag	p.Q661E	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.Q476E	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	0					cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)	p.Q661E(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATTGCAACCTGTTCTTCATTT	0.468																																						uc010idb.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(1981-1983)CAG>GAG		janus kinase and microtubule interacting protein							91.0	89.0	90.0					4																	6050631		1913	4114	6027	SO:0001583	missense	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6050631G>C	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000409021.3:c.1981C>G	4.37:g.6050631G>C	ENSP00000386711:p.Gln661Glu					JAKMIP1_uc010idc.1_Missense_Mutation_p.Q476E|JAKMIP1_uc010idd.1_Intron	p.Q661E	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN			16	2467	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000409021.3	37	c.1981C>G	CCDS47005.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309479	0.81247	.	.	ENSG00000152969	ENST00000409021;ENST00000409371	T;T	0.50548	1.19;0.74	4.91	4.91	0.64330	.	0.000000	0.50627	U	0.000103	T	0.53867	0.1823	.	.	.	0.80722	D	1	P;P	0.52577	0.954;0.954	D;D	0.67900	0.954;0.954	T	0.43130	-0.9410	9	0.02654	T	1	.	17.5427	0.87852	0.0:0.0:1.0:0.0	.	476;661	Q96N16-5;Q96N16-2	.;.	E	661;476	ENSP00000386711:Q661E;ENSP00000387042:Q476E	ENSP00000386711:Q661E	Q	-	1	0	JAKMIP1	6101532	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.848000	0.92172	2.444000	0.82710	0.650000	0.86243	CAG		PASS	0.468	JAKMIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329747.1	NM_144720		12	46	12	46	---	---	---	---
CPZ	8532	broad.mit.edu	37	4	8603071	8603071	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr4:8603071C>T	ENST00000360986.4	+	3	517	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000429646.2_5'Flank|CPZ_ENST00000382480.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.R104C	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	115	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R115C(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CGGCTGGGTGCGCAGACCCTG	0.692																																						uc003glm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(343-345)CGC>TGC		carboxypeptidase Z isoform 1							24.0	25.0	25.0					4																	8603071		2200	4298	6498	SO:0001583	missense	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8603071C>T	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.343C>T	4.37:g.8603071C>T	ENSP00000354255:p.Arg115Cys					CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_5'UTR|CPZ_uc003glo.2_Missense_Mutation_p.R104C|CPZ_uc003glp.2_RNA	p.R115C	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN			3	469	+			115			FZ.		O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	c.343C>T	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967892	0.34754	.	.	ENSG00000109625	ENST00000360986;ENST00000315782	T;T	0.79940	-1.32;-1.32	3.41	1.35	0.21983	Frizzled domain (5);	1.900940	0.02628	N	0.103950	T	0.79094	0.4388	L	0.44542	1.39	0.09310	N	1	D;D	0.63046	0.992;0.989	P;P	0.51487	0.613;0.671	T	0.63834	-0.6547	10	0.62326	D	0.03	-8.8717	1.4187	0.02307	0.3333:0.3899:0.1459:0.131	.	104;115	Q66K79-2;Q66K79	.;CBPZ_HUMAN	C	115;104	ENSP00000354255:R115C;ENSP00000315074:R104C	ENSP00000315074:R104C	R	+	1	0	CPZ	8653971	0.111000	0.22076	0.002000	0.10522	0.357000	0.29423	1.112000	0.31172	0.615000	0.30124	0.561000	0.74099	CGC		PASS	0.692	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		15	14	15	14	---	---	---	---
KLB	152831	broad.mit.edu	37	4	39449075	39449075	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr4:39449075A>T	ENST00000257408.4	+	4	2826	c.2729A>T	c.(2728-2730)tAc>tTc	p.Y910F		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	910	Glycosyl hydrolase-1 2.				carbohydrate metabolic process (GO:0005975)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.Y910F(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CTAGGGAAGTACCTTCAGGAG	0.572																																						uc003gua.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2728-2730)TAC>TTC		klotho beta							44.0	50.0	48.0					4																	39449075		2195	4284	6479	SO:0001583	missense	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39449075A>T	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.2729A>T	4.37:g.39449075A>T	ENSP00000257408:p.Tyr910Phe					KLB_uc011byj.1_Missense_Mutation_p.Y901F	p.Y910F	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN			4	2826	+			910			Extracellular (Potential).|Glycosyl hydrolase-1 2.		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	c.2729A>T	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	A	18.81	3.702221	0.68501	.	.	ENSG00000134962	ENST00000257408	T	0.31769	1.48	5.23	5.23	0.72850	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.57403	0.2051	M	0.78916	2.43	0.50171	D	0.999853	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.63382	-0.6650	10	0.87932	D	0	-22.307	15.0995	0.72262	1.0:0.0:0.0:0.0	.	901;910	B7ZL50;Q86Z14	.;KLOTB_HUMAN	F	910	ENSP00000257408:Y910F	ENSP00000257408:Y910F	Y	+	2	0	KLB	39125470	1.000000	0.71417	0.166000	0.22797	0.143000	0.21401	9.208000	0.95075	1.970000	0.57323	0.260000	0.18958	TAC		PASS	0.572	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		23	64	23	64	---	---	---	---
GNPDA2	132789	broad.mit.edu	37	4	44709814	44709814	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr4:44709814C>G	ENST00000295448.3	-	6	880	c.724G>C	c.(724-726)Gat>Cat	p.D242H	GNPDA2_ENST00000509756.1_Missense_Mutation_p.D242H|GNPDA2_ENST00000507534.1_Missense_Mutation_p.D172H|GNPDA2_ENST00000511187.1_5'UTR|RP11-700J17.2_ENST00000610267.1_RNA|GNPDA2_ENST00000507917.1_Missense_Mutation_p.D208H	NM_138335.2	NP_612208.1	Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	242					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)	p.D242H(1)		endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						AAAGTAGCATCTTCATCGCAT	0.393																																					Colon(54;743 1010 7604 16453 19544)	uc003gwy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(724-726)GAT>CAT		glucosamine-6-phosphate deaminase 2							87.0	79.0	82.0					4																	44709814		2203	4300	6503	SO:0001583	missense	132789				N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity	g.chr4:44709814C>G	AF247786	CCDS3469.1, CCDS59472.1, CCDS59473.1	4p13	2006-04-12			ENSG00000163281	ENSG00000163281	3.5.99.6		21526	protein-coding gene	gene with protein product	"""glucosamine-6-phosphate isomerase"""	613222				12965206	Standard	NM_001270880		Approved	SB52	uc003gwy.4	Q8TDQ7	OTTHUMG00000099415	ENST00000295448.3:c.724G>C	4.37:g.44709814C>G	ENSP00000295448:p.Asp242His					GNPDA2_uc010iga.2_Missense_Mutation_p.D208H|GNPDA2_uc011bzb.1_Missense_Mutation_p.D172H|GNPDA2_uc003gwz.1_Missense_Mutation_p.D242H	p.D242H	NM_138335	NP_612208	Q8TDQ7	GNPI2_HUMAN			6	881	-			242					B4DJF3|Q2VYF1|Q59EA7|Q8NCZ8|Q96BJ4|Q96NC6	Missense_Mutation	SNP	ENST00000295448.3	37	c.724G>C	CCDS3469.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.785448	0.90282	.	.	ENSG00000163281	ENST00000507917;ENST00000295448;ENST00000507534;ENST00000509756	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.71039	0.3293	M	0.86028	2.79	0.80722	D	1	D;D;D	0.69078	0.997;0.982;0.996	D;P;D	0.64687	0.928;0.902;0.912	T	0.75479	-0.3303	10	0.62326	D	0.03	-25.7729	17.7931	0.88561	0.0:1.0:0.0:0.0	.	208;242;242	Q2VYF1;Q8TDQ7-3;Q8TDQ7	.;.;GNPI2_HUMAN	H	208;242;172;242	ENSP00000425868:D208H;ENSP00000295448:D242H;ENSP00000427423:D172H;ENSP00000424061:D242H	ENSP00000295448:D242H	D	-	1	0	GNPDA2	44404571	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.320000	0.79064	2.756000	0.94617	0.655000	0.94253	GAT		PASS	0.393	GNPDA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216874.3	NM_138335		29	16	29	16	---	---	---	---
GABRA4	2557	broad.mit.edu	37	4	46967219	46967219	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr4:46967219G>C	ENST00000264318.3	-	8	1884	c.902C>G	c.(901-903)aCa>aGa	p.T301R		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	301					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.T301R(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GATGCTTAGTGTGGTCATGGT	0.448																																					Ovarian(6;283 369 8234 12290 33402)	uc003gxg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4						c.(901-903)ACA>AGA		gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						170.0	135.0	147.0					4																	46967219		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46967219G>C		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.902C>G	4.37:g.46967219G>C	ENSP00000264318:p.Thr301Arg						p.T301R	NM_000809	NP_000800	P48169	GBRA4_HUMAN			8	1041	-			301			Helical; (Probable).		Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.902C>G	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544303	0.86022	.	.	ENSG00000109158	ENST00000264318	D	0.86097	-2.07	4.66	4.66	0.58398	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.120167	0.56097	D	0.000034	D	0.92430	0.7597	M	0.81614	2.55	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93541	0.6878	10	0.87932	D	0	.	16.7179	0.85402	0.0:0.0:1.0:0.0	.	301	P48169	GBRA4_HUMAN	R	301	ENSP00000264318:T301R	ENSP00000264318:T301R	T	-	2	0	GABRA4	46661976	1.000000	0.71417	0.993000	0.49108	0.881000	0.50899	9.657000	0.98554	2.400000	0.81607	0.591000	0.81541	ACA		PASS	0.448	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			4	137	4	137	---	---	---	---
MEPE	56955	broad.mit.edu	37	4	88766127	88766127	+	Splice_Site	SNP	A	A	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr4:88766127A>T	ENST00000424957.3	+	4	181		c.e4-1		MEPE_ENST00000497649.2_Splice_Site|MEPE_ENST00000508016.1_Splice_Site|MEPE_ENST00000361056.3_Splice_Site|MEPE_ENST00000395102.4_Splice_Site|MEPE_ENST00000511670.1_Splice_Site|MEPE_ENST00000560249.1_Splice_Site|MEPE_ENST00000540395.1_Splice_Site	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein						biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.?(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		ATTGTATTTTAGCAGGAAGAA	0.249																																						uc003hqy.2																			1	Unknown(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.e4-2		matrix, extracellular phosphoglycoprotein with							26.0	29.0	28.0					4																	88766127		2178	4268	6446	SO:0001630	splice_region_variant	56955				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr4:88766127A>T	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.109-1A>T	4.37:g.88766127A>T						MEPE_uc010ikn.2_Splice_Site	p.Q37_splice	NM_020203	NP_064588	Q9NQ76	MEPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	4	148	+		Hepatocellular(203;0.114)						A1A4X9|A8MTA3|D2CFR4|F5H5C5	Splice_Site	SNP	ENST00000424957.3	37	c.109_splice	CCDS3625.1	.	.	.	.	.	.	.	.	.	.	A	13.20	2.167584	0.38315	.	.	ENSG00000152595	ENST00000535138;ENST00000424957;ENST00000395102;ENST00000497649;ENST00000511670;ENST00000361056	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.024	0.47734	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MEPE	88985151	0.844000	0.29557	0.316000	0.25252	0.603000	0.37013	1.390000	0.34464	2.097000	0.63578	0.533000	0.62120	.		PASS	0.249	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1		Intron	13	29	13	29	---	---	---	---
H2AFZ	3015	broad.mit.edu	37	4	100870459	100870459	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr4:100870459C>G	ENST00000296417.5	-	3	383	c.166G>C	c.(166-168)Gca>Cca	p.A56P	DNAJB14_ENST00000442697.2_5'Flank|DNAJB14_ENST00000471738.1_5'Flank|RP11-15B17.1_ENST00000507494.1_RNA|RP11-15B17.1_ENST00000514624.1_RNA|RP11-15B17.1_ENST00000501976.2_RNA|H2AFZ_ENST00000529158.1_5'UTR	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	56					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular vesicular exosome (GO:0070062)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)	p.A56P(1)		breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		AGGATGGCTGCGCTGTACACA	0.552											OREG0016271	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003hvo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(166-168)GCA>CCA		H2A histone family, member Z							54.0	50.0	52.0					4																	100870459		2203	4300	6503	SO:0001583	missense	3015				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr4:100870459C>G	X52317	CCDS3654.1	4q23	2011-01-27			ENSG00000164032	ENSG00000164032		"""Histones / Replication-independent"""	4741	protein-coding gene	gene with protein product		142763		H2AZ		1697587	Standard	XM_005262971		Approved	H2A.Z	uc003hvo.1	P0C0S5	OTTHUMG00000131048	ENST00000296417.5:c.166G>C	4.37:g.100870459C>G	ENSP00000296417:p.Ala56Pro		OREG0016271	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1354	DNAJB14_uc003hvl.2_5'Flank|DNAJB14_uc010ili.2_5'Flank|DNAJB14_uc003hvm.2_5'Flank|H2AFZ_uc003hvn.1_3'UTR|LOC256880_uc003hvp.1_5'Flank	p.A56P	NM_002106	NP_002097	P0C0S5	H2AZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)	3	351	-			56					B2RD56|P17317|Q6I9U0	Missense_Mutation	SNP	ENST00000296417.5	37	c.166G>C	CCDS3654.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798935	0.90538	.	.	ENSG00000164032	ENST00000296417	T	0.70399	-0.48	3.75	3.75	0.43078	Histone-fold (2);Histone core (1);Histone H2A (2);	0.049615	0.85682	D	0.000000	D	0.90559	0.7041	H	0.99312	4.51	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.94791	0.7962	10	0.87932	D	0	-8.0627	15.7657	0.78126	0.0:1.0:0.0:0.0	.	56	P0C0S5	H2AZ_HUMAN	P	56	ENSP00000296417:A56P	ENSP00000296417:A56P	A	-	1	0	H2AFZ	101089482	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.078000	0.64425	1.925000	0.55765	0.650000	0.86243	GCA		PASS	0.552	H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000253695.1	NM_002106		10	34	10	34	---	---	---	---
ANKRD50	57182	broad.mit.edu	37	4	125592435	125592435	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr4:125592435T>C	ENST00000504087.1	-	4	3034	c.1997A>G	c.(1996-1998)cAt>cGt	p.H666R	ANKRD50_ENST00000515641.1_Missense_Mutation_p.H487R	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	666								p.H666R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTCAGCGCCATGTTGTAGCAA	0.468																																						uc003ifg.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1996-1998)CAT>CGT		ankyrin repeat domain 50							196.0	166.0	176.0					4																	125592435		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125592435T>C	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.1997A>G	4.37:g.125592435T>C	ENSP00000425658:p.His666Arg					ANKRD50_uc011cgo.1_Missense_Mutation_p.H487R|ANKRD50_uc010inw.2_Missense_Mutation_p.H666R	p.H666R	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN			3	2263	-			666			ANK 6.		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.1997A>G	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	T	4.874	0.162436	0.09287	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.63417	-0.04;-0.04	5.52	4.34	0.51931	Ankyrin repeat-containing domain (4);	0.112824	0.64402	N	0.000012	T	0.43590	0.1254	N	0.13098	0.295	0.54753	D	0.999987	B	0.32862	0.387	B	0.32289	0.143	T	0.38478	-0.9659	10	0.40728	T	0.16	.	11.3256	0.49446	0.0:0.0706:0.0:0.9294	.	666	Q9ULJ7	ANR50_HUMAN	R	666;487	ENSP00000425658:H666R;ENSP00000425355:H487R	ENSP00000425658:H666R	H	-	2	0	ANKRD50	125811885	1.000000	0.71417	0.913000	0.36048	0.124000	0.20399	7.365000	0.79537	1.107000	0.41642	0.528000	0.53228	CAT		PASS	0.468	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		4	97	4	97	---	---	---	---
PCDH18	54510	broad.mit.edu	37	4	138452960	138452960	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr4:138452960C>G	ENST00000344876.4	-	1	669	c.283G>C	c.(283-285)Gaa>Caa	p.E95Q	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.E95Q	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	95	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E95Q(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CACAGTTGTTCACGGTCAATT	0.433																																						uc003ihe.3																			1	Substitution - Missense(1)		lung(1)	pancreas(3)|skin(2)	5						c.(283-285)GAA>CAA		protocadherin 18 precursor							176.0	173.0	174.0					4																	138452960		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138452960C>G	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.283G>C	4.37:g.138452960C>G	ENSP00000355082:p.Glu95Gln					PCDH18_uc003ihf.3_Missense_Mutation_p.E88Q|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Intron|PCDH18_uc011cha.1_Intron	p.E95Q	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN			1	670	-	all_hematologic(180;0.24)		95			Extracellular (Potential).|Cadherin 1.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.283G>C	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972189	0.74246	.	.	ENSG00000189184	ENST00000344876;ENST00000412923	T;T	0.50001	0.76;0.76	5.96	5.96	0.96718	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.43579	U	0.000546	T	0.78207	0.4247	M	0.92367	3.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.82277	-0.0537	10	0.87932	D	0	.	20.4192	0.99033	0.0:1.0:0.0:0.0	.	95;95	Q9HCL0-2;Q9HCL0	.;PCD18_HUMAN	Q	95	ENSP00000355082:E95Q;ENSP00000390688:E95Q	ENSP00000355082:E95Q	E	-	1	0	PCDH18	138672410	1.000000	0.71417	0.707000	0.30419	0.134000	0.20937	7.770000	0.85390	2.831000	0.97527	0.650000	0.86243	GAA		PASS	0.433	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		51	135	51	135	---	---	---	---
INPP4B	8821	broad.mit.edu	37	4	143114254	143114254	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr4:143114254T>G	ENST00000513000.1	-	16	1600	c.1167A>C	c.(1165-1167)gaA>gaC	p.E389D	INPP4B_ENST00000509777.1_Missense_Mutation_p.E389D|INPP4B_ENST00000508116.1_Missense_Mutation_p.E389D|INPP4B_ENST00000308502.4_Missense_Mutation_p.E389D|INPP4B_ENST00000262992.4_Missense_Mutation_p.E389D	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	389					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.E389D(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TTCTTTCTGTTTCAAATCTAT	0.438																																						uc003iix.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1165-1167)GAA>GAC		inositol polyphosphate-4-phosphatase, type II,							134.0	139.0	137.0					4																	143114254		2203	4300	6503	SO:0001583	missense	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143114254T>G	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.1167A>C	4.37:g.143114254T>G	ENSP00000425487:p.Glu389Asp					INPP4B_uc003iiw.3_Missense_Mutation_p.E389D|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.E204D|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Missense_Mutation_p.E260D	p.E389D	NM_003866	NP_003857	O15327	INP4B_HUMAN			16	1762	-	all_hematologic(180;0.158)		389					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	c.1167A>C	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.068220	0.55539	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1;2.1;2.1;2.1	5.92	1.78	0.24846	.	0.102588	0.64402	D	0.000003	T	0.34308	0.0893	M	0.68317	2.08	0.50467	D	0.999878	D;D	0.76494	0.996;0.999	D;D	0.76071	0.987;0.94	T	0.36866	-0.9730	10	0.09338	T	0.73	.	8.2109	0.31483	0.0:0.3902:0.0:0.6098	.	260;389	B7Z6T2;O15327	.;INP4B_HUMAN	D	389;389;389;260;389;389;204;204;389;260	ENSP00000425487:E389D;ENSP00000262992:E389D;ENSP00000308441:E389D;ENSP00000423954:E389D;ENSP00000422793:E389D;ENSP00000426207:E204D;ENSP00000427250:E389D;ENSP00000421065:E260D	ENSP00000262992:E389D	E	-	3	2	INPP4B	143333704	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.580000	0.36547	0.349000	0.23975	-0.290000	0.09829	GAA		PASS	0.438	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		4	90	4	90	---	---	---	---
LRAT	9227	broad.mit.edu	37	4	155670262	155670262	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr4:155670262C>A	ENST00000336356.3	+	3	920	c.667C>A	c.(667-669)Cca>Aca	p.P223T	LRAT_ENST00000507827.1_Missense_Mutation_p.P223T	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	223					phototransduction, visible light (GO:0007603)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)	phosphatidylcholine-retinol O-acyltransferase activity (GO:0047173)|retinoic acid binding (GO:0001972)|retinol binding (GO:0019841)|transferase activity, transferring acyl groups (GO:0016746)	p.P223T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	AATTTTTATTCCATTCTTCCT	0.393																																						uc003iom.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(667-669)CCA>ACA		lecithin retinol acyltransferase	Vitamin A(DB00162)						247.0	222.0	231.0					4																	155670262		2203	4300	6503	SO:0001583	missense	9227				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity	g.chr4:155670262C>A	AF071510	CCDS3789.1	4q32.1	2014-01-28			ENSG00000121207	ENSG00000121207	2.3.1.135		6685	protein-coding gene	gene with protein product		604863				9920938	Standard	XM_006714412		Approved	LCA14	uc003ion.1	O95237	OTTHUMG00000161418	ENST00000336356.3:c.667C>A	4.37:g.155670262C>A	ENSP00000337224:p.Pro223Thr					LRAT_uc003ion.1_Missense_Mutation_p.P223T	p.P223T	NM_004744	NP_004735	O95237	LRAT_HUMAN			2	994	+	all_hematologic(180;0.215)	Renal(120;0.0458)	223			Lumenal (By similarity).		A8K983|Q8N716	Missense_Mutation	SNP	ENST00000336356.3	37	c.667C>A	CCDS3789.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.567694	0.45798	.	.	ENSG00000121207	ENST00000507827;ENST00000336356	T;T	0.51071	0.72;0.72	5.81	5.81	0.92471	.	0.208399	0.50627	D	0.000103	T	0.37128	0.0992	L	0.31294	0.92	0.45161	D	0.998178	P	0.39809	0.689	B	0.38296	0.27	T	0.12142	-1.0559	10	0.31617	T	0.26	-15.2873	14.1118	0.65126	0.2638:0.7362:0.0:0.0	.	223	O95237	LRAT_HUMAN	T	223	ENSP00000426761:P223T;ENSP00000337224:P223T	ENSP00000337224:P223T	P	+	1	0	LRAT	155889712	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.429000	0.59901	2.746000	0.94184	0.655000	0.94253	CCA		PASS	0.393	LRAT-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365246.1	NM_004744		50	125	50	125	---	---	---	---
TKTL2	84076	broad.mit.edu	37	4	164394680	164394680	+	Missense_Mutation	SNP	G	G	T	rs114941835		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr4:164394680G>T	ENST00000280605.3	-	1	367	c.207C>A	c.(205-207)aaC>aaA	p.N69K		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	69						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.N69K(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGAACCGGTCGTTGTCCGGGT	0.557																																						uc003iqp.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(205-207)AAC>AAA		transketolase-like 2							168.0	115.0	133.0					4																	164394680		2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164394680G>T	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.207C>A	4.37:g.164394680G>T	ENSP00000280605:p.Asn69Lys						p.N69K	NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN			1	368	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	69					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.207C>A	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	G	9.171	1.021041	0.19433	.	.	ENSG00000151005	ENST00000280605	T	0.27890	1.64	3.61	-0.151	0.13411	Transketolase, N-terminal (1);	0.000000	0.85682	U	0.000000	T	0.50820	0.1638	M	0.81112	2.525	0.45806	D	0.99868	D	0.89917	1.0	D	0.91635	0.999	T	0.49624	-0.8920	10	0.87932	D	0	-19.5981	8.4178	0.32681	0.3983:0.0:0.6017:0.0	.	69	Q9H0I9	TKTL2_HUMAN	K	69	ENSP00000280605:N69K	ENSP00000280605:N69K	N	-	3	2	TKTL2	164614130	0.891000	0.30450	0.986000	0.45419	0.009000	0.06853	-0.026000	0.12392	-0.087000	0.12528	-1.287000	0.01368	AAC		PASS	0.557	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		8	20	8	20	---	---	---	---
DDX60	55601	broad.mit.edu	37	4	169157421	169157421	+	Silent	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr4:169157421G>A	ENST00000393743.3	-	33	4806	c.4515C>T	c.(4513-4515)ttC>ttT	p.F1505F		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1505					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)	p.F1505F(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GATAAAACTCGAAGTGTGCAT	0.323																																						uc003irp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(4513-4515)TTC>TTT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							84.0	82.0	82.0					4																	169157421		2201	4296	6497	SO:0001819	synonymous_variant	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169157421G>A	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.4515C>T	4.37:g.169157421G>A							p.F1505F	NM_017631	NP_060101	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	33	4807	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1505					Q6PK35|Q9NVE3	Silent	SNP	ENST00000393743.3	37	c.4515C>T	CCDS34097.1																																																																																				PASS	0.323	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		3	36	3	36	---	---	---	---
DDX60L	91351	broad.mit.edu	37	4	169362543	169362543	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr4:169362543A>C	ENST00000511577.1	-	10	1486	c.1239T>G	c.(1237-1239)ttT>ttG	p.F413L	DDX60L_ENST00000505890.1_Missense_Mutation_p.F413L|DDX60L_ENST00000260184.7_Missense_Mutation_p.F413L			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	413							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.F413L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TTCTCAGAGGAAAAGACTTTC	0.368																																						uc003irq.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1237-1239)TTT>TTG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							109.0	104.0	105.0					4																	169362543		1836	4081	5917	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169362543A>C	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.1239T>G	4.37:g.169362543A>C	ENSP00000422423:p.Phe413Leu					DDX60L_uc003irr.1_Missense_Mutation_p.F413L|DDX60L_uc003irs.1_Missense_Mutation_p.F140L	p.F413L	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	10	1460	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	413					Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.1239T>G		.	.	.	.	.	.	.	.	.	.	A	9.152	1.016487	0.19355	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.16324	2.35;2.35;2.35;2.99	3.1	1.73	0.24493	.	0.264086	0.19356	U	0.116263	T	0.14917	0.0360	M	0.62723	1.935	0.09310	N	0.999997	B;B;B	0.20368	0.025;0.044;0.025	B;B;B	0.19391	0.025;0.017;0.025	T	0.16041	-1.0416	10	0.24483	T	0.36	.	5.6629	0.17678	0.7598:0.0:0.0:0.2402	.	413;413;413	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	L	413;413;413;141	ENSP00000260184:F413L;ENSP00000422423:F413L;ENSP00000422202:F413L;ENSP00000421026:F141L	ENSP00000260184:F413L	F	-	3	2	DDX60L	169599118	0.997000	0.39634	0.133000	0.22050	0.015000	0.08874	0.962000	0.29280	1.159000	0.42565	0.260000	0.18958	TTT		PASS	0.368	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		19	59	19	59	---	---	---	---
ADAM29	11086	broad.mit.edu	37	4	175897229	175897229	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr4:175897229C>G	ENST00000359240.3	+	5	1223	c.553C>G	c.(553-555)Cag>Gag	p.Q185E	ADAM29_ENST00000404450.4_Missense_Mutation_p.Q185E|ADAM29_ENST00000445694.1_Missense_Mutation_p.Q185E|ADAM29_ENST00000514159.1_Missense_Mutation_p.Q185E|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	185					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Q185E(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)		TAATTCCACTCAGAAGCAAAG	0.358																																					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.(553-555)CAG>GAG		ADAM metallopeptidase domain 29 preproprotein							82.0	84.0	83.0					4																	175897229		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897229C>G	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.553C>G	4.37:g.175897229C>G	ENSP00000352177:p.Gln185Glu					ADAM29_uc003iud.2_Missense_Mutation_p.Q185E|ADAM29_uc010irr.2_Missense_Mutation_p.Q185E|ADAM29_uc011cki.1_Missense_Mutation_p.Q185E	p.Q185E	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	1223	+		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)	185					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.553C>G	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	C	9.678	1.148620	0.21288	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.01821	4.62;4.62;4.62;4.62	3.74	1.93	0.25924	.	1.083530	0.07476	U	0.902944	T	0.01421	0.0046	N	0.19112	0.55	0.09310	N	1	B	0.29716	0.255	B	0.28232	0.087	T	0.49899	-0.8890	9	.	.	.	.	4.4012	0.11388	0.2212:0.6606:0.0:0.1182	.	185	Q9UKF5	ADA29_HUMAN	E	185	ENSP00000352177:Q185E;ENSP00000414544:Q185E;ENSP00000384229:Q185E;ENSP00000423517:Q185E	.	Q	+	1	0	ADAM29	176133804	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.149000	0.31626	0.510000	0.28216	0.643000	0.83706	CAG		PASS	0.358	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				20	39	20	39	---	---	---	---
VEGFC	7424	broad.mit.edu	37	4	177608578	177608578	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr4:177608578C>A	ENST00000280193.2	-	6	1323	c.908G>T	c.(907-909)aGc>aTc	p.S303I	RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA|VEGFC_ENST00000507638.1_5'Flank	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	303	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)	p.S303I(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GGGTCCACAGCTGGCAGGCCG	0.507																																						uc003ius.1																			1	Substitution - Missense(1)		lung(1)	lung(5)	5						c.(907-909)AGC>ATC		vascular endothelial growth factor C							119.0	108.0	111.0					4																	177608578		1932	4148	6080	SO:0001583	missense	7424				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	g.chr4:177608578C>A	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.908G>T	4.37:g.177608578C>A	ENSP00000280193:p.Ser303Ile						p.S303I	NM_005429	NP_005420	P49767	VEGFC_HUMAN		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)	6	1338	-		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)	303			4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.		B2R9Q8	Missense_Mutation	SNP	ENST00000280193.2	37	c.908G>T	CCDS43285.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860865	0.51482	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.73	5.73	0.89815	.	0.113338	0.64402	D	0.000003	T	0.57917	0.2086	M	0.77103	2.36	0.44424	D	0.997344	P	0.41265	0.744	B	0.34038	0.174	T	0.65125	-0.6244	9	0.52906	T	0.07	-24.0975	16.186	0.81950	0.0:0.867:0.133:0.0	.	303	P49767	VEGFC_HUMAN	I	303	.	ENSP00000280193:S303I	S	-	2	0	VEGFC	177845572	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.846000	0.48262	2.691000	0.91804	0.650000	0.86243	AGC		PASS	0.507	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429		27	72	27	72	---	---	---	---
CCDC110	256309	broad.mit.edu	37	4	186380457	186380457	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr4:186380457A>C	ENST00000307588.3	-	6	1359	c.1284T>G	c.(1282-1284)atT>atG	p.I428M	CCDC110_ENST00000510617.1_Missense_Mutation_p.I428M|CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000393540.3_Missense_Mutation_p.I391M	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	428						nucleus (GO:0005634)		p.I428M(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		GTAAGTACTGAATTTTTGCAA	0.323																																						uc003ixu.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1282-1284)ATT>ATG		coiled-coil domain containing 110 isoform a							100.0	103.0	102.0					4																	186380457		2203	4297	6500	SO:0001583	missense	256309					nucleus		g.chr4:186380457A>C	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1284T>G	4.37:g.186380457A>C	ENSP00000306776:p.Ile428Met					CCDC110_uc003ixv.3_Missense_Mutation_p.I391M|CCDC110_uc011ckt.1_Missense_Mutation_p.I428M	p.I428M	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	1360	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	428					Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	c.1284T>G	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	A	15.62	2.886029	0.51908	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.10573	2.86;2.86;2.86	5.66	-3.18	0.05186	.	0.316082	0.27048	N	0.021182	T	0.20941	0.0504	M	0.66939	2.045	0.25134	N	0.990543	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.03212	-1.1060	10	0.45353	T	0.12	-12.8479	5.8805	0.18852	0.5281:0.0:0.3525:0.1194	.	428;391;428	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	M	391;428;428	ENSP00000377172:I391M;ENSP00000306776:I428M;ENSP00000427246:I428M	ENSP00000306776:I428M	I	-	3	3	CCDC110	186617451	0.992000	0.36948	0.997000	0.53966	0.964000	0.63967	0.460000	0.21924	-0.144000	0.11314	0.533000	0.62120	ATT		PASS	0.323	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		45	84	45	84	---	---	---	---
PLEKHG4B	153478	broad.mit.edu	37	5	161981	161981	+	Silent	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr5:161981G>C	ENST00000283426.6	+	10	1553	c.1503G>C	c.(1501-1503)ctG>ctC	p.L501L		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	501							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L501L(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GAAGGGGCCTGAGCGCCGTGG	0.607																																						uc003jak.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(1501-1503)CTG>CTC		pleckstrin homology domain containing, family G							88.0	80.0	82.0					5																	161981		2203	4300	6503	SO:0001819	synonymous_variant	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:161981G>C	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1503G>C	5.37:g.161981G>C							p.L501L	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	10	1553	+			501						Silent	SNP	ENST00000283426.6	37	c.1503G>C	CCDS34124.1																																																																																				PASS	0.607	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		9	35	9	35	---	---	---	---
SLC6A19	340024	broad.mit.edu	37	5	1219621	1219621	+	Splice_Site	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr5:1219621C>T	ENST00000304460.10	+	10	1436	c.1380C>T	c.(1378-1380)ggC>ggT	p.G460G		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	460					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)	p.G460G(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGCCTGCAGGCCTCATCTGCC	0.637																																						uc003jbw.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1378-1380)GGC>GGT		solute carrier family 6, member 19							117.0	99.0	105.0					5																	1219621		2203	4300	6503	SO:0001630	splice_region_variant	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1219621C>T	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1379-1C>T	5.37:g.1219621C>T							p.G460G	NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		10	1436	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		460			Helical; Name=9; (Potential).		A8K446	Silent	SNP	ENST00000304460.10	37	c.1380C>T	CCDS34130.1																																																																																				PASS	0.637	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120	Silent	9	43	9	43	---	---	---	---
TERT	7015	broad.mit.edu	37	5	1264568	1264568	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr5:1264568C>T	ENST00000310581.5	-	11	2851	c.2794G>A	c.(2794-2796)Ggc>Agc	p.G932S	TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Intron	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	932	Primer grip sequence.|Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)	p.G920S(1)|p.G932S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	AGCAGCAGGCCGCACCAGGGG	0.647									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													uc003jcb.1																			2	Substitution - Missense(2)		lung(2)	lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12						c.(2794-2796)GGC>AGC		telomerase reverse transcriptase isoform 1							33.0	41.0	38.0					5																	1264568		2036	4190	6226	SO:0001583	missense	7015	TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1264568C>T	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.2794G>A	5.37:g.1264568C>T	ENSP00000309572:p.Gly932Ser					TERT_uc003jbz.1_Missense_Mutation_p.G128S|TERT_uc003jca.1_Missense_Mutation_p.G920S|TERT_uc003jcc.1_Intron|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron	p.G932S	NM_198253	NP_937983	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		11	2852	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		932	WCGLL->AAAAA: Completely abolishes telomerase-mediated primer extension and reduced binding to short telomeric primers. Complete loss of catalytic activity but no further loss of binding to telomeric primers; when associated with 137-A--A-141.		Primer grip sequence.|Reverse transcriptase.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.2794G>A	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959229	0.74016	.	.	ENSG00000164362	ENST00000310581	D	0.99578	-6.21	4.41	4.41	0.53225	Reverse transcriptase (1);	0.057151	0.64402	D	0.000001	D	0.99687	0.9882	M	0.92784	3.345	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97329	0.9949	10	0.87932	D	0	-19.2071	15.7742	0.78198	0.0:1.0:0.0:0.0	.	932	O14746	TERT_HUMAN	S	932	ENSP00000309572:G932S	ENSP00000309572:G932S	G	-	1	0	TERT	1317568	1.000000	0.71417	0.702000	0.30337	0.193000	0.23685	6.938000	0.75904	1.984000	0.57885	0.462000	0.41574	GGC		PASS	0.647	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			16	22	16	22	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13721263	13721263	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr5:13721263C>G	ENST00000265104.4	-	71	12229	c.12125G>C	c.(12124-12126)cGg>cCg	p.R4042P		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4042	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R4042P(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAGTGGCGTCCGTGGATCAGA	0.483									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(12124-12126)CGG>CCG		dynein, axonemal, heavy chain 5							122.0	122.0	122.0					5																	13721263		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13721263C>G	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12125G>C	5.37:g.13721263C>G	ENSP00000265104:p.Arg4042Pro					DNAH5_uc003jfc.2_Missense_Mutation_p.R210P	p.R4042P	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			71	12167	-	Lung NSC(4;0.00476)		4042			AAA 6 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.12125G>C	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126138	0.37533	.	.	ENSG00000039139	ENST00000265104	T	0.08634	3.07	5.18	3.37	0.38596	Dynein heavy chain (1);	0.134192	0.49305	D	0.000143	T	0.16642	0.0400	M	0.87617	2.895	0.53688	D	0.999973	B	0.18610	0.029	B	0.29176	0.099	T	0.02365	-1.1170	10	0.45353	T	0.12	.	11.229	0.48901	0.0:0.8508:0.0:0.1492	.	4042	Q8TE73	DYH5_HUMAN	P	4042	ENSP00000265104:R4042P	ENSP00000265104:R4042P	R	-	2	0	DNAH5	13774263	0.978000	0.34361	0.284000	0.24805	0.749000	0.42624	2.600000	0.46240	1.316000	0.45131	-0.259000	0.10710	CGG		PASS	0.483	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		42	77	42	77	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13894861	13894861	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr5:13894861G>A	ENST00000265104.4	-	16	2433	c.2329C>T	c.(2329-2331)Cac>Tac	p.H777Y	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	777	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.H777Y(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTGGCCAAGTGAGGGACAATC	0.413									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(2329-2331)CAC>TAC		dynein, axonemal, heavy chain 5							178.0	167.0	171.0					5																	13894861		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13894861G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.2329C>T	5.37:g.13894861G>A	ENSP00000265104:p.His777Tyr						p.H777Y	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			16	2371	-	Lung NSC(4;0.00476)		777			Potential.|Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.2329C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	9.721	1.159613	0.21454	.	.	ENSG00000039139	ENST00000265104	T	0.54479	0.57	5.53	5.53	0.82687	Dynein heavy chain, domain-1 (1);	0.109676	0.64402	D	0.000005	T	0.61110	0.2321	M	0.88241	2.94	0.37961	D	0.932976	B	0.17465	0.022	B	0.27076	0.076	T	0.62181	-0.6908	10	0.23891	T	0.37	.	14.7003	0.69152	0.0718:0.0:0.9282:0.0	.	777	Q8TE73	DYH5_HUMAN	Y	777	ENSP00000265104:H777Y	ENSP00000265104:H777Y	H	-	1	0	DNAH5	13947861	0.974000	0.33945	0.816000	0.32577	0.482000	0.33219	2.386000	0.44380	2.598000	0.87819	0.561000	0.74099	CAC		PASS	0.413	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		28	115	28	115	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13923469	13923469	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr5:13923469C>T	ENST00000265104.4	-	4	462	c.358G>A	c.(358-360)Gat>Aat	p.D120N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	120	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D120N(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAGCCACATCGTTTCCCTCG	0.458									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(358-360)GAT>AAT		dynein, axonemal, heavy chain 5							214.0	202.0	206.0					5																	13923469		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13923469C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.358G>A	5.37:g.13923469C>T	ENSP00000265104:p.Asp120Asn					DNAH5_uc003jfe.1_RNA	p.D120N	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			4	400	-	Lung NSC(4;0.00476)		120			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.358G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.807772	0.31961	.	.	ENSG00000039139	ENST00000265104	T	0.24151	1.87	5.69	5.69	0.88448	.	0.149737	0.56097	D	0.000022	T	0.32793	0.0841	M	0.72894	2.215	0.58432	D	0.999996	B	0.18863	0.031	B	0.14023	0.01	T	0.09443	-1.0674	10	0.23891	T	0.37	.	19.8162	0.96569	0.0:1.0:0.0:0.0	.	120	Q8TE73	DYH5_HUMAN	N	120	ENSP00000265104:D120N	ENSP00000265104:D120N	D	-	1	0	DNAH5	13976469	1.000000	0.71417	0.993000	0.49108	0.156000	0.22039	7.162000	0.77515	2.681000	0.91329	0.655000	0.94253	GAT		PASS	0.458	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		65	166	65	166	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21752083	21752083	+	Silent	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr5:21752083G>A	ENST00000382254.1	-	15	3234	c.2148C>T	c.(2146-2148)ttC>ttT	p.F716F	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Silent_p.F676F|CDH12_ENST00000504376.2_Silent_p.F716F|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	716					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F716F(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTTGATGAATGAAATCCCTTA	0.468										HNSCC(59;0.17)																												uc010iuc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2146-2148)TTC>TTT		cadherin 12, type 2 preproprotein							257.0	223.0	234.0					5																	21752083		2203	4300	6503	SO:0001819	synonymous_variant	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21752083G>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.2148C>T	5.37:g.21752083G>A		HNSCC(59;0.17)				CDH12_uc011cno.1_Silent_p.F676F|CDH12_uc003jgk.2_Silent_p.F716F|uc003jgj.2_Intron	p.F716F	NM_004061	NP_004052	P55289	CAD12_HUMAN			12	2606	-			716			Cytoplasmic (Potential).		B2RBT1|B7Z2U6|Q86UD2	Silent	SNP	ENST00000382254.1	37	c.2148C>T	CCDS3890.1																																																																																				PASS	0.468	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		15	77	15	77	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32048766	32048766	+	Silent	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr5:32048766G>A	ENST00000438447.1	+	8	2029	c.1641G>A	c.(1639-1641)ctG>ctA	p.L547L	PDZD2_ENST00000282493.3_Silent_p.L547L			O15018	PDZD2_HUMAN	PDZ domain containing 2	547					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.L547L(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCCCGCAGCTGCTGGACTCTT	0.552																																						uc003jhl.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(1639-1641)CTG>CTA		PDZ domain containing 2							58.0	65.0	62.0					5																	32048766		2203	4300	6503	SO:0001819	synonymous_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32048766G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.1641G>A	5.37:g.32048766G>A						PDZD2_uc003jhm.2_Silent_p.L547L|PDZD2_uc011cnx.1_Silent_p.L373L	p.L547L	NM_178140	NP_835260	O15018	PDZD2_HUMAN			8	2029	+			547					Q9BXD4	Silent	SNP	ENST00000438447.1	37	c.1641G>A	CCDS34137.1																																																																																				PASS	0.552	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			7	63	7	63	---	---	---	---
NUP155	9631	broad.mit.edu	37	5	37305197	37305197	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr5:37305197C>T	ENST00000231498.3	-	26	3222	c.3019G>A	c.(3019-3021)Gat>Aat	p.D1007N	NUP155_ENST00000513532.1_Missense_Mutation_p.D943N|NUP155_ENST00000381843.2_Missense_Mutation_p.D948N|NUP155_ENST00000502533.1_5'UTR	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1007					atrial cardiac muscle cell action potential (GO:0086014)|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 envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.D1007N(1)		endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATATTTGGATCAGATGACAAC	0.408																																						uc003jku.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3019-3021)GAT>AAT		nucleoporin 155kDa isoform 1							191.0	182.0	185.0					5																	37305197		2203	4300	6503	SO:0001583	missense	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37305197C>T	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.3019G>A	5.37:g.37305197C>T	ENSP00000231498:p.Asp1007Asn					NUP155_uc003jkt.1_Missense_Mutation_p.D948N|NUP155_uc010iuz.1_Missense_Mutation_p.D943N	p.D1007N	NM_153485	NP_705618	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		26	3137	-	all_lung(31;0.000137)		1007					Q9UBE9|Q9UFL5	Missense_Mutation	SNP	ENST00000231498.3	37	c.3019G>A	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.373970	0.61735	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.79352	-1.26;-1.25;-1.2	5.71	5.71	0.89125	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76856	0.4046	L	0.43152	1.355	0.80722	D	1	P;B	0.51653	0.947;0.135	P;B	0.48166	0.569;0.042	T	0.71649	-0.4529	10	0.15499	T	0.54	-3.6782	19.8352	0.96655	0.0:1.0:0.0:0.0	.	943;1007	E9PF10;O75694	.;NU155_HUMAN	N	1007;948;969;943	ENSP00000231498:D1007N;ENSP00000371265:D948N;ENSP00000422019:D943N	ENSP00000231498:D1007N	D	-	1	0	NUP155	37340954	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.260000	0.78391	2.698000	0.92095	0.585000	0.79938	GAT		PASS	0.408	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		50	170	50	170	---	---	---	---
EGFLAM	133584	broad.mit.edu	37	5	38338836	38338836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr5:38338836C>T	ENST00000354891.3	+	3	590	c.244C>T	c.(244-246)Cag>Tag	p.Q82*	EGFLAM_ENST00000322350.5_Nonsense_Mutation_p.Q82*	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	82	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.Q82*(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TAAATCCCTGCAGGAGCAGTT	0.542																																					Colon(62;485 1295 3347 17454)	uc003jlc.1																			2	Substitution - Nonsense(2)		lung(2)	pancreas(3)|skin(3)|ovary(1)	7						c.(244-246)CAG>TAG		EGF-like, fibronectin type III and laminin G							96.0	90.0	92.0					5																	38338836		2203	4300	6503	SO:0001587	stop_gained	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38338836C>T	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.244C>T	5.37:g.38338836C>T	ENSP00000346964:p.Gln82*					EGFLAM_uc003jlb.1_Nonsense_Mutation_p.Q82*	p.Q82*	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			3	568	+	all_lung(31;0.000385)		82			Fibronectin type-III 1.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Nonsense_Mutation	SNP	ENST00000354891.3	37	c.244C>T	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247311	0.80024	.	.	ENSG00000164318	ENST00000354891;ENST00000322350	.	.	.	5.53	2.66	0.31614	.	0.573150	0.17107	N	0.186765	.	.	.	.	.	.	0.09310	N	0.999991	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-18.9093	4.6489	0.12585	0.3092:0.5185:0.0:0.1723	.	.	.	.	X	82	.	ENSP00000313084:Q82X	Q	+	1	0	EGFLAM	38374593	0.722000	0.28017	0.168000	0.22838	0.017000	0.09413	1.519000	0.35888	0.714000	0.32081	-0.136000	0.14681	CAG		PASS	0.542	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		18	37	18	37	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41004926	41004926	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr5:41004926G>T	ENST00000399564.4	-	36	4411	c.3961C>A	c.(3961-3963)Cag>Aag	p.Q1321K	MROH2B_ENST00000506092.2_Missense_Mutation_p.Q876K	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1321								p.Q1321K(1)									ATGGCCATCTGCCTCAGAGTG	0.493																																						uc003jmj.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(3961-3963)CAG>AAG		HEAT repeat family member 7B2							90.0	88.0	88.0					5																	41004926		1972	4151	6123	SO:0001583	missense	133558						binding	g.chr5:41004926G>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3961C>A	5.37:g.41004926G>T	ENSP00000382476:p.Gln1321Lys					HEATR7B2_uc003jmi.3_Missense_Mutation_p.Q876K	p.Q1321K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			36	4451	-			1321					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.3961C>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.090170	0.55968	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.64991	-0.13;-0.13	6.0	6.0	0.97389	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000011	T	0.65123	0.2661	L	0.54323	1.7	0.36911	D	0.890926	P	0.39404	0.672	P	0.47626	0.552	T	0.62029	-0.6940	10	0.12766	T	0.61	.	16.0001	0.80288	0.0:0.0:1.0:0.0	.	1321	Q7Z745	HTRB2_HUMAN	K	876;1026;1321	ENSP00000441504:Q876K;ENSP00000382476:Q1321K	ENSP00000296803:Q1026K	Q	-	1	0	HEATR7B2	41040683	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	4.830000	0.62745	2.856000	0.98102	0.643000	0.83706	CAG		PASS	0.493	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		27	27	27	27	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41069802	41069802	+	Silent	SNP	A	A	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr5:41069802A>G	ENST00000399564.4	-	2	531	c.81T>C	c.(79-81)atT>atC	p.I27I		NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	27								p.I27I(1)									CCTTGTTAACAATATCTTCCT	0.328																																						uc003jmj.3																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(79-81)ATT>ATC		HEAT repeat family member 7B2							72.0	72.0	72.0					5																	41069802		1833	4090	5923	SO:0001819	synonymous_variant	133558						binding	g.chr5:41069802A>G		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.81T>C	5.37:g.41069802A>G							p.I27I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			2	571	-			27					Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	c.81T>C	CCDS47202.1																																																																																				PASS	0.328	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		6	9	6	9	---	---	---	---
MCCC2	64087	broad.mit.edu	37	5	70900248	70900248	+	Missense_Mutation	SNP	C	C	A	rs547662164		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr5:70900248C>A	ENST00000340941.6	+	6	706	c.577C>A	c.(577-579)Cgt>Agt	p.R193S	MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000509358.2_Missense_Mutation_p.R193S|MCCC2_ENST00000323375.8_Missense_Mutation_p.R193S	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	193	Carboxyltransferase.		R -> C (in MCC2D; mild form). {ECO:0000269|PubMed:11181649}.		biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)	p.R193C(1)|p.R193S(1)		endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	CCACTTTGGCCGTACATTCTA	0.368																																						uc003kbs.3																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(1)	1	GRCh37	CM010914	MCCC2	M		c.(577-579)CGT>AGT		methylcrotonoyl-Coenzyme A carboxylase 2 (beta)	Biotin(DB00121)						166.0	148.0	154.0					5																	70900248		2203	4300	6503	SO:0001583	missense	64087				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity	g.chr5:70900248C>A	AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"""methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"""				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.577C>A	5.37:g.70900248C>A	ENSP00000343657:p.Arg193Ser					MCCC2_uc010iyv.1_Missense_Mutation_p.R193S|MCCC2_uc003kbt.3_RNA|MCCC2_uc003kbu.1_Missense_Mutation_p.R62S	p.R193S	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	6	715	+		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)	193		R -> C (in MCC2 deficiency; mild form).	Carboxyltransferase.		A6NIY9|Q96C27|Q9Y4L7	Missense_Mutation	SNP	ENST00000340941.6	37	c.577C>A	CCDS34184.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.913033	0.72983	.	.	ENSG00000131844	ENST00000340941;ENST00000509358;ENST00000323375	D;D;D	0.98060	-4.69;-4.69;-4.69	5.57	4.7	0.59300	Carboxyl transferase (1);Acetyl-coenzyme A carboxyltransferase, N-terminal (1);	0.096264	0.85682	D	0.000000	D	0.98604	0.9533	M	0.89353	3.025	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.996	D;D;D	0.80764	0.985;0.994;0.969	D	0.99323	1.0907	10	0.87932	D	0	-1.5247	9.5105	0.39074	0.1419:0.7823:0.0:0.0758	.	193;62;193	D6RDF7;B3KR24;Q9HCC0	.;.;MCCB_HUMAN	S	193	ENSP00000343657:R193S;ENSP00000420994:R193S;ENSP00000327308:R193S	ENSP00000327308:R193S	R	+	1	0	MCCC2	70936004	0.983000	0.35010	1.000000	0.80357	0.900000	0.52787	2.601000	0.46249	1.490000	0.48466	0.558000	0.71614	CGT		PASS	0.368	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4			3	80	3	80	---	---	---	---
BHMT	635	broad.mit.edu	37	5	78411716	78411716	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr5:78411716G>A	ENST00000274353.5	+	2	267	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	DMGDH_ENST00000520388.1_Intron|BHMT_ENST00000524080.1_Missense_Mutation_p.E54K	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	54	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.E54K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	GGAGCACCCAGAAGCAGGTTG	0.537																																						uc003kfu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(160-162)GAA>AAA		betaine-homocysteine methyltransferase	L-Methionine(DB00134)						94.0	87.0	89.0					5																	78411716		2203	4300	6503	SO:0001583	missense	635				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	g.chr5:78411716G>A	BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"""betaine homocysteine methyltransferase"""	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.160G>A	5.37:g.78411716G>A	ENSP00000274353:p.Glu54Lys					BHMT_uc011cti.1_Missense_Mutation_p.E54K	p.E54K	NM_001713	NP_001704	Q93088	BHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	2	265	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	54			Hcy-binding.		Q9UNI9	Missense_Mutation	SNP	ENST00000274353.5	37	c.160G>A	CCDS4046.1	.	.	.	.	.	.	.	.	.	.	G	36	5.641521	0.96704	.	.	ENSG00000145692	ENST00000274353;ENST00000524080;ENST00000436224	T;T	0.35789	1.29;1.29	5.1	5.1	0.69264	Homocysteine S-methyltransferase (4);	0.000000	0.85682	D	0.000000	T	0.62221	0.2410	M	0.88450	2.955	0.35510	D	0.80055	B;D	0.59767	0.001;0.986	B;P	0.55965	0.002;0.788	T	0.76293	-0.3012	10	0.56958	D	0.05	-19.6314	18.8667	0.92294	0.0:0.0:1.0:0.0	.	54;54	E5RJH0;Q93088	.;BHMT1_HUMAN	K	54	ENSP00000274353:E54K;ENSP00000428240:E54K	ENSP00000274353:E54K	E	+	1	0	BHMT	78447472	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.476000	0.97823	2.529000	0.85273	0.557000	0.71058	GAA		PASS	0.537	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226961.1	NM_001713		12	24	12	24	---	---	---	---
FAM172A	83989	broad.mit.edu	37	5	93388891	93388891	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr5:93388891C>T	ENST00000395965.3	-	3	290	c.148G>A	c.(148-150)Gat>Aat	p.D50N	FAM172A_ENST00000509163.1_Missense_Mutation_p.D4N|FAM172A_ENST00000504768.2_5'UTR|FAM172A_ENST00000509739.1_5'UTR|FAM172A_ENST00000505869.1_Missense_Mutation_p.D4N	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	50						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)		p.D50N(1)		endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						GGCGGTTCATCTTTTTTCATT	0.279																																						uc010jbd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(148-150)GAT>AAT		hypothetical protein LOC83989 isoform 1							58.0	64.0	62.0					5																	93388891		2201	4280	6481	SO:0001583	missense	83989					endoplasmic reticulum|extracellular region		g.chr5:93388891C>T		CCDS4069.1, CCDS54879.1, CCDS54880.1	5q15	2008-06-16	2008-06-16	2008-06-16	ENSG00000113391	ENSG00000113391			25365	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 21"""	C5orf21		11230166	Standard	NM_032042		Approved	DKFZP564D172	uc010jbd.3	Q8WUF8	OTTHUMG00000131329	ENST00000395965.3:c.148G>A	5.37:g.93388891C>T	ENSP00000379294:p.Asp50Asn					FAM172A_uc011cuf.1_Missense_Mutation_p.D4N|FAM172A_uc011cug.1_Missense_Mutation_p.D4N|FAM172A_uc011cuh.1_5'UTR|FAM172A_uc011cui.1_RNA|FAM172A_uc011cuj.1_5'UTR|FAM172A_uc003kkm.3_Missense_Mutation_p.D50N	p.D50N	NM_032042	NP_114431	Q8WUF8	F172A_HUMAN			3	355	-			50					B2R7C6|B4DJ14|B4DLG5|Q9H0U8	Missense_Mutation	SNP	ENST00000395965.3	37	c.148G>A	CCDS4069.1	.	.	.	.	.	.	.	.	.	.	C	32	5.158116	0.94686	.	.	ENSG00000113391	ENST00000395965;ENST00000505869;ENST00000509163	T;T	0.53857	0.78;0.6	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.71719	0.3373	M	0.61703	1.905	0.53688	D	0.999971	D;D;D	0.89917	0.998;0.997;1.0	D;D;D	0.87578	0.995;0.989;0.998	T	0.72418	-0.4300	10	0.66056	D	0.02	-29.1588	18.7286	0.91724	0.0:1.0:0.0:0.0	.	4;50;50	B4DJ14;Q8WUF8;Q8WUF8-2	.;F172A_HUMAN;.	N	50;4;4	ENSP00000379294:D50N;ENSP00000423841:D4N	ENSP00000379294:D50N	D	-	1	0	FAM172A	93414647	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.079000	0.76829	2.721000	0.93114	0.655000	0.94253	GAT		PASS	0.279	FAM172A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254100.3	NM_032042		31	22	31	22	---	---	---	---
FAM172A	83989	broad.mit.edu	37	5	93410402	93410402	+	Missense_Mutation	SNP	G	G	C	rs143516571		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr5:93410402G>C	ENST00000395965.3	-	2	197	c.55C>G	c.(55-57)Caa>Gaa	p.Q19E	FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000504768.2_5'UTR|FAM172A_ENST00000509739.1_5'UTR|FAM172A_ENST00000505869.1_Intron	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	19						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)		p.Q19E(1)		endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						TGCTGGATTTGTGCCATGTTT	0.343																																						uc010jbd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(55-57)CAA>GAA		hypothetical protein LOC83989 isoform 1							129.0	118.0	122.0					5																	93410402		2203	4300	6503	SO:0001583	missense	83989					endoplasmic reticulum|extracellular region		g.chr5:93410402G>C		CCDS4069.1, CCDS54879.1, CCDS54880.1	5q15	2008-06-16	2008-06-16	2008-06-16	ENSG00000113391	ENSG00000113391			25365	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 21"""	C5orf21		11230166	Standard	NM_032042		Approved	DKFZP564D172	uc010jbd.3	Q8WUF8	OTTHUMG00000131329	ENST00000395965.3:c.55C>G	5.37:g.93410402G>C	ENSP00000379294:p.Gln19Glu					FAM172A_uc011cuf.1_Intron|FAM172A_uc011cug.1_Intron|FAM172A_uc011cuh.1_5'UTR|FAM172A_uc011cui.1_RNA|FAM172A_uc011cuj.1_Intron|FAM172A_uc003kkm.3_Missense_Mutation_p.Q19E	p.Q19E	NM_032042	NP_114431	Q8WUF8	F172A_HUMAN			2	262	-			19					B2R7C6|B4DJ14|B4DLG5|Q9H0U8	Missense_Mutation	SNP	ENST00000395965.3	37	c.55C>G	CCDS4069.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987080	0.74589	.	.	ENSG00000113391	ENST00000395965	T	0.45276	0.9	5.87	5.87	0.94306	.	0.283030	0.39985	N	0.001202	T	0.42562	0.1208	L	0.54323	1.7	0.80722	D	1	B;B	0.25007	0.116;0.03	B;B	0.24701	0.034;0.055	T	0.18241	-1.0343	10	0.40728	T	0.16	-1.5904	17.1159	0.86688	0.0:0.0:1.0:0.0	.	19;19	Q8WUF8;Q8WUF8-2	F172A_HUMAN;.	E	19	ENSP00000379294:Q19E	ENSP00000379294:Q19E	Q	-	1	0	FAM172A	93436158	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.177000	0.58276	2.775000	0.95449	0.650000	0.86243	CAA		PASS	0.343	FAM172A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254100.3	NM_032042		13	63	13	63	---	---	---	---
CAMK4	814	broad.mit.edu	37	5	110820063	110820063	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr5:110820063C>A	ENST00000282356.4	+	11	1719	c.1321C>A	c.(1321-1323)Ctg>Atg	p.L441M	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Missense_Mutation_p.L441M	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	441					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.L441M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		AGAGGAGAAGCTGAAGACTGT	0.537																																						uc011cvj.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)	5						c.(1321-1323)CTG>ATG		calcium/calmodulin-dependent protein kinase IV							52.0	53.0	52.0					5																	110820063		2202	4300	6502	SO:0001583	missense	814				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:110820063C>A	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.1321C>A	5.37:g.110820063C>A	ENSP00000282356:p.Leu441Met					CAMK4_uc003kpf.2_Missense_Mutation_p.L441M|CAMK4_uc010jbv.2_Missense_Mutation_p.L244M|CAMK4_uc003kpg.2_Missense_Mutation_p.L132M	p.L441M	NM_001744	NP_001735	Q16566	KCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	12	1420	+		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	441					D3DSZ7	Missense_Mutation	SNP	ENST00000282356.4	37	c.1321C>A	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846661	0.51164	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.70282	-0.47;-0.47	5.04	0.0537	0.14308	.	0.319926	0.17436	N	0.174287	T	0.47358	0.1441	N	0.19112	0.55	0.09310	N	1	B	0.15930	0.015	B	0.14023	0.01	T	0.37291	-0.9712	10	0.87932	D	0	.	1.2071	0.01897	0.155:0.4342:0.151:0.2599	.	441	Q16566	KCC4_HUMAN	M	441	ENSP00000422634:L441M;ENSP00000282356:L441M	ENSP00000282356:L441M	L	+	1	2	CAMK4	110847962	0.033000	0.19621	0.004000	0.12327	0.155000	0.21991	0.353000	0.20130	-0.184000	0.10567	-0.225000	0.12378	CTG		PASS	0.537	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		31	10	31	10	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127670448	127670448	+	Silent	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr5:127670448C>G	ENST00000508053.1	-	37	5036	c.4062G>C	c.(4060-4062)ctG>ctC	p.L1354L	FBN2_ENST00000507835.1_Silent_p.L204L|FBN2_ENST00000262464.4_Silent_p.L1354L|FBN2_ENST00000508989.1_Silent_p.L1321L			P35556	FBN2_HUMAN	fibrillin 2	1354	EGF-like 21; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.L1354L(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTGAGTAACCCAGCTGACAGT	0.408																																						uc003kuu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(4060-4062)CTG>CTC		fibrillin 2 precursor							146.0	129.0	135.0					5																	127670448		2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127670448C>G	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4062G>C	5.37:g.127670448C>G						FBN2_uc003kuv.2_Silent_p.L1321L	p.L1354L	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	31	4501	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1354			EGF-like 21; calcium-binding.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.4062G>C	CCDS34222.1																																																																																				PASS	0.408	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		72	19	72	19	---	---	---	---
ADAMTS19	171019	broad.mit.edu	37	5	128957936	128957936	+	Silent	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr5:128957936C>T	ENST00000274487.4	+	10	1792	c.1647C>T	c.(1645-1647)gtC>gtT	p.V549V	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	549	Disintegrin.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V549V(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)		CGCAGAGTGTCAATTCTGTGA	0.433																																						uc003kvb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|breast(2)|lung(1)|skin(1)	9						c.(1645-1647)GTC>GTT		ADAM metallopeptidase with thrombospondin type 1							152.0	132.0	139.0					5																	128957936		2203	4300	6503	SO:0001819	synonymous_variant	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128957936C>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.1647C>T	5.37:g.128957936C>T						ADAMTS19_uc010jdh.1_RNA	p.V549V	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)	10	1647	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	549			Disintegrin.			Silent	SNP	ENST00000274487.4	37	c.1647C>T	CCDS4146.1																																																																																				PASS	0.433	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		18	39	18	39	---	---	---	---
SKP1	6500	broad.mit.edu	37	5	133496743	133496743	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr5:133496743C>T	ENST00000353411.6	-	4	433	c.250G>A	c.(250-252)Gat>Aat	p.D84N	SKP1_ENST00000522855.1_Missense_Mutation_p.D84N|SKP1_ENST00000521216.1_Missense_Mutation_p.D84N|SKP1_ENST00000522552.1_Missense_Mutation_p.D84N|SKP1_ENST00000517625.1_Missense_Mutation_p.D84N	NM_170679.2	NP_733779.1	P63208	SKP1_HUMAN	S-phase kinase-associated protein 1	84					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H2A monoubiquitination (GO:0035518)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	Cul7-RING ubiquitin ligase complex (GO:0031467)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-protein transferase activity (GO:0004842)	p.D84N(1)		large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACAGGGATATCATCTGTTCGC	0.413																																						uc003kzc.3																			1	Substitution - Missense(1)		lung(1)		0						c.(250-252)GAT>AAT		S-phase kinase-associated protein 1 isoform b							117.0	103.0	108.0					5																	133496743		2203	4300	6503	SO:0001583	missense	6500				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|G1/S transition of mitotic cell cycle|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:133496743C>T	U33760	CCDS4171.1, CCDS4172.1	5q31	2011-11-18	2007-11-13	2007-11-13	ENSG00000113558	ENSG00000113558			10899	protein-coding gene	gene with protein product		601434	"""S-phase kinase-associated protein 1A (p19A)"""	SKP1A		7553852, 8646875	Standard	NM_006930		Approved	EMC19, OCP2, TCEB1L, MGC34403, OCP-II, p19A	uc003kzc.4	P63208	OTTHUMG00000129117	ENST00000353411.6:c.250G>A	5.37:g.133496743C>T	ENSP00000231487:p.Asp84Asn					SKP1_uc003kzd.3_Missense_Mutation_p.D84N|SKP1_uc010jdv.2_Missense_Mutation_p.D84N	p.D84N	NM_170679	NP_733779	P63208	SKP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	429	-			84					D3DQ97|D3DQ98|P34991|Q8TAY2	Missense_Mutation	SNP	ENST00000353411.6	37	c.250G>A	CCDS4171.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917615	0.73098	.	.	ENSG00000113558	ENST00000353411;ENST00000522552;ENST00000521216;ENST00000517625;ENST00000522855;ENST00000328392;ENST00000519321;ENST00000520417	T;T;T;T;T;T;T;T	0.47528	0.87;0.86;0.86;0.87;0.87;0.86;0.86;0.84	4.97	4.97	0.65823	BTB/POZ fold (1);	0.000000	0.85682	D	0.000000	T	0.52677	0.1749	M	0.84846	2.72	0.80722	D	1	B;B;P	0.38395	0.001;0.003;0.629	B;B;B	0.31191	0.001;0.003;0.125	T	0.64032	-0.6502	10	0.52906	T	0.07	-1.2547	18.6017	0.91249	0.0:1.0:0.0:0.0	.	84;84;84	E5RJR5;P63208-2;P63208	.;.;SKP1_HUMAN	N	84	ENSP00000231487:D84N;ENSP00000429472:D84N;ENSP00000431067:D84N;ENSP00000429961:D84N;ENSP00000429686:D84N;ENSP00000331708:D84N;ENSP00000429415:D84N;ENSP00000429996:D84N	ENSP00000331708:D84N	D	-	1	0	SKP1	133524642	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.223000	0.78033	2.444000	0.82710	0.655000	0.94253	GAT		PASS	0.413	SKP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251162.2	NM_170679		17	30	17	30	---	---	---	---
CAMLG	819	broad.mit.edu	37	5	134086614	134086614	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr5:134086614G>C	ENST00000297156.2	+	4	985	c.865G>C	c.(865-867)Gat>Cat	p.D289H	CAMLG_ENST00000514518.1_3'UTR	NM_001745.3	NP_001736.1	P49069	CAMLG_HUMAN	calcium modulating ligand	289					defense response (GO:0006952)|epidermal growth factor receptor signaling pathway (GO:0007173)|receptor recycling (GO:0001881)|signal transduction (GO:0007165)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.D289H(1)		NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	TGAACTGCTTGATTATTGGGG	0.368																																						uc003kzt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(865-867)GAT>CAT		calcium modulating ligand	Cyclosporine(DB00091)						103.0	101.0	101.0					5																	134086614		2203	4300	6503	SO:0001583	missense	819				defense response	endoplasmic reticulum|integral to membrane		g.chr5:134086614G>C	AF068179.1	CCDS4178.1	5q23	2008-07-18			ENSG00000164615	ENSG00000164615			1471	protein-coding gene	gene with protein product	"""calcium-modulating cyclophilin ligand"", ""calcium-signal modulating cyclophilin ligand"", ""cyclophilin B-binding protein"""	601118				8824814	Standard	NM_001745		Approved	CAML	uc003kzt.3	P49069	OTTHUMG00000129116	ENST00000297156.2:c.865G>C	5.37:g.134086614G>C	ENSP00000297156:p.Asp289His					CAMLG_uc003kzu.2_3'UTR	p.D289H	NM_001745	NP_001736	P49069	CAMLG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	970	+			289			Cytoplasmic (Potential).		A1L3Y3	Missense_Mutation	SNP	ENST00000297156.2	37	c.865G>C	CCDS4178.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342763	0.24339	.	.	ENSG00000164615	ENST00000297156	T	0.30182	1.54	5.75	2.0	0.26442	.	0.722424	0.13185	N	0.407161	T	0.19208	0.0461	L	0.36672	1.1	0.58432	D	0.999999	B	0.02656	0.0	B	0.08055	0.003	T	0.14090	-1.0485	10	0.38643	T	0.18	-0.352	1.2725	0.02024	0.2003:0.2747:0.3237:0.2013	.	289	P49069	CAMLG_HUMAN	H	289	ENSP00000297156:D289H	ENSP00000297156:D289H	D	+	1	0	CAMLG	134114513	0.997000	0.39634	0.973000	0.42090	0.823000	0.46562	0.985000	0.29578	0.084000	0.17077	-0.882000	0.02950	GAT		PASS	0.368	CAMLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251161.1	NM_001745		36	14	36	14	---	---	---	---
CXXC5	51523	broad.mit.edu	37	5	139060756	139060756	+	Silent	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr5:139060756C>T	ENST00000302517.3	+	2	1362	c.648C>T	c.(646-648)atC>atT	p.I216I	CXXC5_ENST00000515038.1_3'UTR|CXXC5_ENST00000511048.1_Silent_p.I216I	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	216					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.I216I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTCCCCATCAACCCAGGCC	0.657																																						uc010jfg.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(646-648)ATC>ATT		CXXC finger 5							25.0	30.0	28.0					5																	139060756		2029	4171	6200	SO:0001819	synonymous_variant	51523				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr5:139060756C>T	AK024338	CCDS43370.1	5q31.3	2014-02-18	2011-12-01						26943	protein-coding gene	gene with protein product	"""retinoid-inducible nuclear factor"", ""WT1-induced Inhibitor of Dishevelled"""	612752				11042152, 19001364, 19182210, 20220130	Standard	NM_016463		Approved	HSPC195, RINF, WID	uc010jfg.1	Q7LFL8		ENST00000302517.3:c.648C>T	5.37:g.139060756C>T						CXXC5_uc003let.2_Silent_p.I216I	p.I216I	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	938	+			216					B3KND0|C8CBA8|Q8TB79|Q9NV51|Q9P0S8	Silent	SNP	ENST00000302517.3	37	c.648C>T	CCDS43370.1																																																																																				PASS	0.657	CXXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372744.1	NM_016463		10	31	10	31	---	---	---	---
ANKHD1	54882	broad.mit.edu	37	5	139905841	139905841	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr5:139905841G>T	ENST00000360839.2	+	26	4907	c.4753G>T	c.(4753-4755)Ggt>Tgt	p.G1585C	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.G1585C|ANKHD1_ENST00000544120.1_5'UTR|ANKHD1_ENST00000297183.6_Missense_Mutation_p.G1585C|SNORD45_ENST00000363181.1_RNA	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1585						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.G1585C(2)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTAGAGGTGGTGGTGCAGG	0.398																																						uc003lfs.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)	6						c.(4753-4755)GGT>TGT		ANKHD1-EIF4EBP3 protein							142.0	157.0	152.0					5																	139905841		2203	4300	6503	SO:0001583	missense	404734					cytoplasm|nucleus	RNA binding	g.chr5:139905841G>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4753G>T	5.37:g.139905841G>T	ENSP00000354085:p.Gly1585Cys					ANKHD1_uc003lfr.2_Missense_Mutation_p.G1585C|ANKHD1_uc003lfu.1_Missense_Mutation_p.G1065C|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.G324C|ANKHD1_uc003lfw.2_Missense_Mutation_p.G223C|ANKHD1_uc010jfl.2_Missense_Mutation_p.G20C|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank	p.G1585C	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		26	4877	+			1585					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.4753G>T	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.959729|3.959729	0.74016|0.74016	.|.	.|.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996|ENSG00000131503	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000536646;ENST00000433049;ENST00000532219|ENST00000435794;ENST00000432301	T;T;T;T;T|.	0.23754|.	1.89;1.89;1.89;1.89;1.89|.	5.28|5.28	4.42|4.42	0.53409|0.53409	.|.	0.053790|.	0.85682|.	D|.	0.000000|.	T|T	0.59514|0.59514	0.2199|0.2199	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	0.991;1.0;1.0;1.0;1.0|.	T|T	0.56251|0.56251	-0.8010|-0.8010	10|5	0.56958|.	D|.	0.05|.	.|.	14.1843|14.1843	0.65595|0.65595	0.0725:0.0:0.9275:0.0|0.0725:0.0:0.9275:0.0	.|.	15;1585;1585;1585;1585|.	Q9H059;E9PF56;Q8IWZ3-4;Q8IWZ2;Q8IWZ3|.	.;.;.;.;ANKH1_HUMAN|.	C|L	1585;1585;1585;241;20;107;1585|75;35	ENSP00000354085:G1585C;ENSP00000297183:G1585C;ENSP00000393204:G241C;ENSP00000390034:G107C;ENSP00000432016:G1585C|.	ENSP00000432016:G1585C|.	G|W	+|+	1|2	0|0	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139886025|139886025	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	7.533000|7.533000	0.81994|0.81994	1.244000|1.244000	0.43870|0.43870	-0.378000|-0.378000	0.06908|0.06908	GGT|TGG		PASS	0.398	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		40	103	40	103	---	---	---	---
PCDHGA2	56113	broad.mit.edu	37	5	140719400	140719400	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr5:140719400A>T	ENST00000394576.2	+	1	862	c.862A>T	c.(862-864)Acc>Tcc	p.T288S	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	288	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.T288S(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTGGAGAAACCTCAGAGGT	0.448																																						uc003ljk.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(862-864)ACC>TCC		protocadherin gamma subfamily A, 2 isoform 1							122.0	135.0	130.0					5																	140719400		2203	4300	6503	SO:0001583	missense	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140719400A>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.862A>T	5.37:g.140719400A>T	ENSP00000378077:p.Thr288Ser					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.T288S	p.T288S	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1047	+			288			Cadherin 3.|Extracellular (Potential).		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.862A>T	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	7.380	0.628609	0.14257	.	.	ENSG00000081853	ENST00000394576	T	0.37915	1.17	5.26	1.42	0.22433	Cadherin (4);Cadherin-like (1);	0.606264	0.13192	N	0.406632	T	0.18341	0.0440	N	0.17723	0.515	0.09310	N	1	B;B	0.14012	0.002;0.009	B;B	0.18263	0.008;0.021	T	0.20806	-1.0264	10	0.23302	T	0.38	.	2.465	0.04550	0.375:0.0:0.1931:0.4319	.	288;288	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	S	288	ENSP00000378077:T288S	ENSP00000378077:T288S	T	+	1	0	PCDHGA2	140699584	0.000000	0.05858	0.656000	0.29637	0.505000	0.33919	-1.980000	0.01492	0.350000	0.24002	0.533000	0.62120	ACC		PASS	0.448	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		11	149	11	149	---	---	---	---
PTTG1	9232	broad.mit.edu	37	5	159855639	159855639	+	Missense_Mutation	SNP	C	C	T	rs376226386		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr5:159855639C>T	ENST00000393964.1	+	5	963	c.560C>T	c.(559-561)tCg>tTg	p.S187L	PTTG1_ENST00000352433.5_Missense_Mutation_p.S187L|PTTG1_ENST00000519287.1_3'UTR|PTTG1_ENST00000520452.1_Missense_Mutation_p.S187L	NM_001282382.1	NP_001269311.1	O95997	PTTG1_HUMAN	pituitary tumor-transforming 1	187					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|DNA repair (GO:0006281)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of endopeptidase activity (GO:0010951)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S187L(1)		breast(1)|large_intestine(1)|lung(4)	6	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)		AGCATTCTGTCGACCCTGGAT	0.348																																						uc003lyj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(559-561)TCG>TTG		pituitary tumor-transforming protein 1		C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	222.0	220.0	221.0		560	4.6	0.1	5		221	0,8600		0,0,4300	no	missense	PTTG1	NM_004219.2	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	187/203	159855639	1,13005	2203	4300	6503	SO:0001583	missense	9232				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|chromosome organization|chromosome segregation|DNA repair|mitosis|spermatogenesis|transcription from RNA polymerase II promoter	cytosol|nucleus	cysteine-type endopeptidase inhibitor activity|sequence-specific DNA binding transcription factor activity|SH3 domain binding	g.chr5:159855639C>T	AF062649	CCDS4353.1	5q35.1	2014-08-04			ENSG00000164611	ENSG00000164611			9690	protein-coding gene	gene with protein product	"""ESP1-associated protein 1"", ""tumor-transforming protein 1"""	604147		TUTR1		9811450, 9892021	Standard	NM_004219		Approved	PTTG, HPTTG, EAP1, securin	uc003lyj.3	O95997	OTTHUMG00000130328	ENST00000393964.1:c.560C>T	5.37:g.159855639C>T	ENSP00000377536:p.Ser187Leu					PTTG1_uc003lyk.2_Missense_Mutation_p.S187L	p.S187L	NM_004219	NP_004210	O95997	PTTG1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)	6	605	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	187						Missense_Mutation	SNP	ENST00000393964.1	37	c.560C>T	CCDS4353.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341112	0.41498	2.27E-4	0.0	ENSG00000164611	ENST00000352433;ENST00000520452;ENST00000393964	T;T;T	0.47528	0.84;0.84;0.84	5.51	4.64	0.57946	.	0.316936	0.31290	N	0.007905	T	0.40067	0.1102	L	0.49350	1.555	0.32178	N	0.580782	B	0.12013	0.005	B	0.11329	0.006	T	0.45716	-0.9242	9	.	.	.	0.0015	10.4859	0.44722	0.0:0.91:0.0:0.09	.	187	O95997	PTTG1_HUMAN	L	187	ENSP00000344936:S187L;ENSP00000430642:S187L;ENSP00000377536:S187L	.	S	+	2	0	PTTG1	159788217	0.972000	0.33761	0.138000	0.22173	0.995000	0.86356	3.946000	0.56644	1.326000	0.45319	0.561000	0.74099	TCG		PASS	0.348	PTTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252677.1	NM_004219		112	58	112	58	---	---	---	---
ADAMTS2	9509	broad.mit.edu	37	5	178634588	178634589	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr5:178634588_178634589CC>AA	ENST00000251582.7	-	4	917_918	c.816_817GG>TT	c.(814-819)ctGGgc>ctTTgc	p.G273C	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.G273C	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	273	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G273C(2)|p.L272L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TCATCCACGCCCAGCAGGACCT	0.624																																						uc003mjw.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(817-819)GGC>TGC|c.(814-816)CTG>CTT		ADAM metallopeptidase with thrombospondin type 1																																				SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178634588C>A|g.chr5:178634589C>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.816_817delinsAA	5.37:g.178634588_178634589delinsAA	ENSP00000251582:p.Gly273Cys					ADAMTS2_uc011dgm.1_Missense_Mutation_p.G273C|ADAMTS2_uc011dgm.1_Silent_p.L272L	p.G273C|p.L272L	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	4	817|816	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	273|272			Peptidase M12B.			Missense_Mutation|Silent	SNP	ENST00000251582.7	37	c.817G>T|c.816G>T	CCDS4444.1																																																																																				PASS	0.624	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		73|74	41|40	73	40	---	---	---	---
CNOT6	57472	broad.mit.edu	37	5	180001041	180001041	+	Silent	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr5:180001041C>A	ENST00000393356.1	+	14	1939	c.1515C>A	c.(1513-1515)atC>atA	p.I505I	CNOT6_ENST00000261951.4_Silent_p.I505I			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	505	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)	p.I505I(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		CCTTAGGCATCCTGGGCCCTC	0.463																																						uc003mlx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1513-1515)ATC>ATA		CCR4-NOT transcription complex, subunit 6							122.0	118.0	119.0					5																	180001041		2203	4300	6503	SO:0001819	synonymous_variant	57472				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding	g.chr5:180001041C>A	AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.1515C>A	5.37:g.180001041C>A						CNOT6_uc010jld.2_Silent_p.I505I|CNOT6_uc010jle.2_Silent_p.I500I	p.I505I	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)	12	1864	+	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	505					A7MD46|D3DWR0	Silent	SNP	ENST00000393356.1	37	c.1515C>A	CCDS4455.1																																																																																				PASS	0.463	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253532.1	NM_015455		13	76	13	76	---	---	---	---
FOXF2	2295	broad.mit.edu	37	6	1390512	1390512	+	Silent	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr6:1390512C>T	ENST00000259806.1	+	1	444	c.330C>T	c.(328-330)gtC>gtT	p.V110V		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	110					embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.V110V(1)		large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CGCTCATCGTCATGGCCATCC	0.721																																						uc003mtm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(328-330)GTC>GTT		forkhead box F2							26.0	27.0	26.0					6																	1390512		2203	4300	6503	SO:0001819	synonymous_variant	2295				epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:1390512C>T	U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"""Forkhead boxes"""	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.330C>T	6.37:g.1390512C>T						FOXF2_uc003mtn.2_Silent_p.V110V	p.V110V	NM_001452	NP_001443	Q12947	FOXF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.095)	1	444	+	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)	110			Fork-head.		Q5TGJ1|Q9UQ85	Silent	SNP	ENST00000259806.1	37	c.330C>T	CCDS4472.1																																																																																				PASS	0.721	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043558.1			8	15	8	15	---	---	---	---
JARID2	3720	broad.mit.edu	37	6	15501270	15501270	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr6:15501270G>A	ENST00000341776.2	+	8	2322	c.2078G>A	c.(2077-2079)cGg>cAg	p.R693Q	JARID2_ENST00000541660.1_Missense_Mutation_p.R655Q|JARID2_ENST00000397311.3_Missense_Mutation_p.R521Q	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	693	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R693Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GCCCAGGACCGGCTGGCCAAG	0.587																																						uc003nbj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|pancreas(1)	4						c.(2077-2079)CGG>CAG		jumonji, AT rich interactive domain 2 protein							63.0	73.0	70.0					6																	15501270		2203	4300	6503	SO:0001583	missense	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15501270G>A	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.2078G>A	6.37:g.15501270G>A	ENSP00000341280:p.Arg693Gln					JARID2_uc011div.1_Missense_Mutation_p.R521Q|JARID2_uc011diw.1_Missense_Mutation_p.R655Q	p.R693Q	NM_004973	NP_004964	Q92833	JARD2_HUMAN			8	2322	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	693			ARID.		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	c.2078G>A	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	G	34	5.371830	0.95923	.	.	ENSG00000008083	ENST00000341776;ENST00000397311;ENST00000541660	T;T;T	0.63096	-0.02;-0.02;-0.02	5.15	5.15	0.70609	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.85682	D	0.000000	T	0.76997	0.4066	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79881	-0.1616	10	0.66056	D	0.02	-12.18	18.621	0.91321	0.0:0.0:1.0:0.0	.	655;693	F5H590;Q92833	.;JARD2_HUMAN	Q	693;521;655	ENSP00000341280:R693Q;ENSP00000380478:R521Q;ENSP00000444623:R655Q	ENSP00000341280:R693Q	R	+	2	0	JARID2	15609249	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.624000	0.98398	2.396000	0.81511	0.561000	0.74099	CGG		PASS	0.587	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		29	72	29	72	---	---	---	---
BTN2A2	10385	broad.mit.edu	37	6	26393175	26393175	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr6:26393175G>T	ENST00000356709.4	+	8	1663	c.1552G>T	c.(1552-1554)Ggg>Tgg	p.G518W	BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000352867.2_Missense_Mutation_p.G402W|BTN2A2_ENST00000482536.1_Missense_Mutation_p.G308W|BTN2A2_ENST00000416795.2_Missense_Mutation_p.G518W|BTN2A2_ENST00000432533.2_3'UTR	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	518					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.G518W(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TCACAGAGTGGGGACCCACCA	0.557																																						uc003nhq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1552-1554)GGG>TGG		butyrophilin, subfamily 2, member A2 isoform a							52.0	51.0	51.0					6																	26393175		2203	4300	6503	SO:0001583	missense	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26393175G>T	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.1552G>T	6.37:g.26393175G>T	ENSP00000349143:p.Gly518Trp					BTN2A2_uc011dkg.1_3'UTR|BTN2A2_uc003nhr.2_Missense_Mutation_p.G402W|BTN2A2_uc011dkh.1_Missense_Mutation_p.G308W|BTN2A2_uc003nhs.2_Intron|BTN2A2_uc003nht.2_Missense_Mutation_p.G518W|BTN2A2_uc011dki.1_3'UTR	p.G518W	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN			8	1638	+			518			Cytoplasmic (Potential).		A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	ENST00000356709.4	37	c.1552G>T	CCDS4606.1	.	.	.	.	.	.	.	.	.	.	.	12.78	2.041662	0.35989	.	.	ENSG00000124508	ENST00000356709;ENST00000352867;ENST00000482536;ENST00000416795	T;T;T;T	0.57752	1.24;0.85;0.38;1.24	3.21	1.33	0.21861	.	0.985096	0.08234	N	0.977095	T	0.53094	0.1775	M	0.73962	2.25	0.09310	N	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.65573	0.936;0.936;0.936	T	0.33752	-0.9856	10	0.87932	D	0	.	5.6881	0.17815	0.2845:0.0:0.7155:0.0	.	308;402;518	E9PH07;A6NM84;Q8WVV5	.;.;BT2A2_HUMAN	W	518;402;308;518	ENSP00000349143:G518W;ENSP00000337117:G402W;ENSP00000419451:G308W;ENSP00000399308:G518W	ENSP00000337117:G402W	G	+	1	0	BTN2A2	26501154	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.352000	0.20113	0.166000	0.19597	0.454000	0.30748	GGG		PASS	0.557	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			7	52	7	52	---	---	---	---
ZKSCAN8	7745	broad.mit.edu	37	6	28121755	28121755	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr6:28121755G>C	ENST00000330236.6	+	6	1881	c.1697G>C	c.(1696-1698)aGa>aCa	p.R566T	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.R566T	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	566					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.R566T(1)									CGACATCAGAGAATCCACAGT	0.428																																						uc003nkn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1696-1698)AGA>ACA		zinc finger protein 192							99.0	97.0	97.0					6																	28121755		2203	4300	6503	SO:0001583	missense	7745				viral reproduction	cytoplasm|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28121755G>C		CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12983	protein-coding gene	gene with protein product		602240	"""zinc finger protein 192"""	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.1697G>C	6.37:g.28121755G>C	ENSP00000332750:p.Arg566Thr					ZNF192_uc010jqx.1_Missense_Mutation_p.R566T|ZNF192_uc010jqy.1_Missense_Mutation_p.R379T|ZNF192_uc011dkz.1_Missense_Mutation_p.R379T	p.R566T	NM_006298	NP_006289	Q15776	ZN192_HUMAN			6	1881	+			566			C2H2-type 9.		A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Missense_Mutation	SNP	ENST00000330236.6	37	c.1697G>C	CCDS4645.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.275298	0.59649	.	.	ENSG00000198315	ENST00000330236;ENST00000457389	T;T	0.09723	2.95;2.95	5.7	5.7	0.88788	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000021	T	0.14657	0.0354	M	0.65498	2.005	0.80722	D	1	D	0.59357	0.985	P	0.52159	0.691	T	0.00238	-1.1889	10	0.87932	D	0	.	13.5703	0.61843	0.0:0.0:0.8442:0.1558	.	566	Q15776	ZN192_HUMAN	T	566	ENSP00000332750:R566T;ENSP00000402948:R566T	ENSP00000332750:R566T	R	+	2	0	ZNF192	28229734	0.005000	0.15991	1.000000	0.80357	0.991000	0.79684	1.291000	0.33330	2.686000	0.91538	0.655000	0.94253	AGA		PASS	0.428	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040178.2			4	92	4	92	---	---	---	---
ZKSCAN3	80317	broad.mit.edu	37	6	28333415	28333415	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr6:28333415G>A	ENST00000377255.3	+	7	1267	c.970G>A	c.(970-972)Gct>Act	p.A324T	ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.A176T|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.A324T	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	324					autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A324T(1)		kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						AAAGAGTTTTGCTCAAAGCTC	0.507																																						uc003nle.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(970-972)GCT>ACT		zinc finger with KRAB and SCAN domains 3							110.0	98.0	102.0					6																	28333415		2203	4300	6503	SO:0001583	missense	80317				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28333415G>A	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13853	protein-coding gene	gene with protein product		612791	"""zinc finger protein 306"", ""zinc finger protein 309"""	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.970G>A	6.37:g.28333415G>A	ENSP00000366465:p.Ala324Thr					ZKSCAN3_uc010jrc.2_Missense_Mutation_p.A324T|ZKSCAN3_uc003nlf.3_Missense_Mutation_p.A176T|uc010jrd.2_5'Flank	p.A324T	NM_024493	NP_077819	Q9BRR0	ZKSC3_HUMAN			6	1186	+			324			C2H2-type 1.		B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Missense_Mutation	SNP	ENST00000377255.3	37	c.970G>A	CCDS4650.1	.	.	.	.	.	.	.	.	.	.	.	15.52	2.856588	0.51376	.	.	ENSG00000189298	ENST00000252211;ENST00000341464;ENST00000377255	T;T;T	0.07688	3.17;3.17;3.17	3.51	2.61	0.31194	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03564	0.0102	N	0.05230	-0.09	0.23356	N	0.997848	D	0.89917	1.0	D	0.83275	0.996	T	0.39702	-0.9601	9	0.31617	T	0.26	.	3.3683	0.07211	0.212:0.0:0.5729:0.2151	.	324	Q9BRR0	ZKSC3_HUMAN	T	324;176;324	ENSP00000252211:A324T;ENSP00000341883:A176T;ENSP00000366465:A324T	ENSP00000252211:A324T	A	+	1	0	ZKSCAN3	28441394	0.778000	0.28640	1.000000	0.80357	0.998000	0.95712	2.037000	0.41174	1.781000	0.52344	0.655000	0.94253	GCT		PASS	0.507	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493		28	21	28	21	---	---	---	---
MDC1	9656	broad.mit.edu	37	6	30672362	30672362	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr6:30672362G>T	ENST00000376406.3	-	10	5245	c.4598C>A	c.(4597-4599)gCa>gAa	p.A1533E	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.A1269E	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1533	Interaction with the PRKDC complex.			A -> T (in Ref. 4; BAC54931/BAF31266). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)	p.A1533E(1)		breast(2)|kidney(1)|ovary(1)	4						CTCAGGGGCTGCGGGCACAAC	0.592								Other conserved DNA damage response genes																														uc003nrg.3																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|kidney(1)	4						c.(4597-4599)GCA>GAA	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1							119.0	136.0	130.0					6																	30672362		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30672362G>T	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.4598C>A	6.37:g.30672362G>T	ENSP00000365588:p.Ala1533Glu					MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.A1140E	p.A1533E	NM_014641	NP_055456	Q14676	MDC1_HUMAN			10	5038	-			1533	A -> T (in Ref. 4; BAC54931/BAF31266).		Interaction with the PRKDC complex.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.4598C>A	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362527	0.24684	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.05786	3.39;3.39	4.06	2.27	0.28462	.	.	.	.	.	T	0.01765	0.0056	N	0.08118	0	0.09310	N	1	D;B	0.53885	0.963;0.215	P;B	0.53224	0.721;0.043	T	0.45071	-0.9286	9	0.21014	T	0.42	.	6.379	0.21523	0.2231:0.0:0.7769:0.0	.	1269;1533	Q14676-2;Q14676	.;MDC1_HUMAN	E	1533;1269;1246;1099	ENSP00000365588:A1533E;ENSP00000365587:A1269E	ENSP00000365587:A1269E	A	-	2	0	MDC1	30780341	0.000000	0.05858	0.003000	0.11579	0.018000	0.09664	0.157000	0.16402	0.680000	0.31366	0.449000	0.29647	GCA		PASS	0.592	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		5	230	5	230	---	---	---	---
ZBTB12	221527	broad.mit.edu	37	6	31868521	31868521	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr6:31868521C>T	ENST00000375527.2	-	2	737	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K	C2_ENST00000469372.1_Intron|C2_ENST00000452323.2_5'Flank	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	188					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.E188K(1)		endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						TCCAAGTCTTCATCCAGTGGG	0.622																																						uc003nyd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(562-564)GAA>AAA		zinc finger and BTB domain containing 12							51.0	43.0	46.0					6																	31868521		2154	4214	6368	SO:0001583	missense	221527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:31868521C>T	BC043609	CCDS4727.1	6p21.31	2013-01-08	2004-04-15	2004-04-16	ENSG00000204366	ENSG00000204366		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19066	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 46"""	C6orf46		9545376	Standard	NM_181842		Approved	G10, NG35, D6S59E	uc003nyd.1	Q9Y330	OTTHUMG00000031169	ENST00000375527.2:c.562G>A	6.37:g.31868521C>T	ENSP00000364677:p.Glu188Lys					C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_5'Flank	p.E188K	NM_181842	NP_862825	Q9Y330	ZBT12_HUMAN			2	738	-			188					B0UY00|Q5JQ98	Missense_Mutation	SNP	ENST00000375527.2	37	c.562G>A	CCDS4727.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.793684	0.31685	.	.	ENSG00000204366	ENST00000375527	T	0.13538	2.58	4.3	3.43	0.39272	.	0.520709	0.18449	U	0.140882	T	0.02807	0.0084	L	0.29908	0.895	0.37235	D	0.905841	B	0.26081	0.141	B	0.20767	0.031	T	0.24225	-1.0166	10	0.07813	T	0.8	.	10.8949	0.47017	0.0:0.9047:0.0:0.0953	.	188	Q9Y330	ZBT12_HUMAN	K	188	ENSP00000364677:E188K	ENSP00000364677:E188K	E	-	1	0	ZBTB12	31976500	0.992000	0.36948	0.970000	0.41538	0.770000	0.43624	3.421000	0.52742	0.786000	0.33708	0.313000	0.20887	GAA		PASS	0.622	ZBTB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076315.2	NM_181842		12	40	12	40	---	---	---	---
ZBTB12	221527	broad.mit.edu	37	6	31868998	31868998	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr6:31868998C>T	ENST00000375527.2	-	2	260	c.85G>A	c.(85-87)Gag>Aag	p.E29K	C2_ENST00000469372.1_Intron|C2_ENST00000452323.2_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	29					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.E29K(1)		endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						AACCGCTCCTCTGCCCGGAGC	0.652																																						uc003nyd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(85-87)GAG>AAG		zinc finger and BTB domain containing 12							27.0	25.0	26.0					6																	31868998		2203	4300	6503	SO:0001583	missense	221527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:31868998C>T	BC043609	CCDS4727.1	6p21.31	2013-01-08	2004-04-15	2004-04-16	ENSG00000204366	ENSG00000204366		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19066	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 46"""	C6orf46		9545376	Standard	NM_181842		Approved	G10, NG35, D6S59E	uc003nyd.1	Q9Y330	OTTHUMG00000031169	ENST00000375527.2:c.85G>A	6.37:g.31868998C>T	ENSP00000364677:p.Glu29Lys					C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_Intron	p.E29K	NM_181842	NP_862825	Q9Y330	ZBT12_HUMAN			2	261	-			29					B0UY00|Q5JQ98	Missense_Mutation	SNP	ENST00000375527.2	37	c.85G>A	CCDS4727.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637419	0.87760	.	.	ENSG00000204366	ENST00000375527	T	0.70869	-0.52	4.46	4.46	0.54185	BTB/POZ (1);BTB/POZ fold (2);	0.234366	0.36591	U	0.002519	T	0.63224	0.2493	L	0.35288	1.05	0.38782	D	0.95478	P	0.46784	0.884	P	0.54815	0.761	T	0.63350	-0.6657	10	0.30854	T	0.27	.	15.8792	0.79189	0.0:1.0:0.0:0.0	.	29	Q9Y330	ZBT12_HUMAN	K	29	ENSP00000364677:E29K	ENSP00000364677:E29K	E	-	1	0	ZBTB12	31976977	0.972000	0.33761	0.992000	0.48379	0.968000	0.65278	2.203000	0.42752	2.027000	0.59764	0.543000	0.68304	GAG		PASS	0.652	ZBTB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076315.2	NM_181842		12	32	12	32	---	---	---	---
COL11A2	1302	broad.mit.edu	37	6	33132203	33132203	+	Silent	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr6:33132203G>A	ENST00000374708.4	-	63	4911	c.4653C>T	c.(4651-4653)ctC>ctT	p.L1551L	COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374714.1_Silent_p.L1611L|COL11A2_ENST00000357486.1_Silent_p.L1616L|COL11A2_ENST00000374712.1_Silent_p.L1556L|COL11A2_ENST00000395197.1_Silent_p.L1577L|COL11A2_ENST00000361917.1_Silent_p.L1530L|COL11A2_ENST00000374713.1_Silent_p.L1590L|COL11A2_ENST00000341947.2_Silent_p.L1637L	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1637	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.L1637L(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GCAGGAAGGTGAGCTGGACCA	0.652																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(4909-4911)CTC>CTT		collagen, type XI, alpha 2 isoform 1							20.0	15.0	17.0					6																	33132203		1510	2705	4215	SO:0001819	synonymous_variant	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33132203G>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.4653C>T	6.37:g.33132203G>A						COL11A2_uc010jul.1_Silent_p.L207L|COL11A2_uc003ocy.1_Silent_p.L1551L|COL11A2_uc003ocz.1_Silent_p.L1530L	p.L1637L	NM_080680	NP_542411	P13942	COBA2_HUMAN			65	5139	-			1637			Fibrillar collagen NC1.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Silent	SNP	ENST00000374708.4	37	c.4911C>T	CCDS43452.1																																																																																				PASS	0.652	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			3	10	3	10	---	---	---	---
UHRF1BP1	54887	broad.mit.edu	37	6	34826439	34826439	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr6:34826439C>T	ENST00000192788.5	+	14	2477	c.2306C>T	c.(2305-2307)tCt>tTt	p.S769F	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.S769F	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	769							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.S769F(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GCCCCTGACTCTATGTCCCAT	0.502																																						uc003oju.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2305-2307)TCT>TTT		ICBP90 binding protein 1							86.0	83.0	84.0					6																	34826439		1910	4131	6041	SO:0001583	missense	54887							g.chr6:34826439C>T	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.2306C>T	6.37:g.34826439C>T	ENSP00000192788:p.Ser769Phe					UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	p.S769F	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN			14	2540	+			769					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.2306C>T	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	C	5.955	0.360179	0.11296	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.08896	3.04;3.04	5.43	5.43	0.79202	.	0.570550	0.17307	N	0.179016	T	0.01029	0.0034	N	0.08118	0	0.09310	N	1	B	0.23735	0.09	B	0.15484	0.013	T	0.47861	-0.9084	10	0.10636	T	0.68	-0.6817	4.9619	0.14070	0.1436:0.6188:0.1575:0.0801	.	769	Q6BDS2	URFB1_HUMAN	F	769	ENSP00000192788:S769F;ENSP00000400628:S769F	ENSP00000192788:S769F	S	+	2	0	UHRF1BP1	34934417	0.000000	0.05858	0.026000	0.17262	0.503000	0.33858	0.471000	0.22100	2.564000	0.86499	0.585000	0.79938	TCT		PASS	0.502	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		6	89	6	89	---	---	---	---
PI16	221476	broad.mit.edu	37	6	36929668	36929668	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr6:36929668C>A	ENST00000373674.3	+	4	838	c.510C>A	c.(508-510)aaC>aaA	p.N170K		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	170					negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)	p.N170K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTAGGGGGAACGTGAAGGGGA	0.612																																						uc003ona.2																			1	Substitution - Missense(1)		lung(1)		0						c.(508-510)AAC>AAA		protease inhibitor 16 precursor							84.0	72.0	76.0					6																	36929668		2203	4300	6503	SO:0001583	missense	221476					extracellular region|integral to membrane	peptidase inhibitor activity	g.chr6:36929668C>A		CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"""microseminoprotein, beta-binding protein"""		"""protease inhibitor 16"""				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.510C>A	6.37:g.36929668C>A	ENSP00000362778:p.Asn170Lys					PI16_uc003omz.1_Missense_Mutation_p.N170K|PI16_uc003onb.2_Missense_Mutation_p.N170K|PI16_uc011dts.1_5'UTR	p.N170K	NM_153370	NP_699201	Q6UXB8	PI16_HUMAN			4	838	+			170			Extracellular (Potential).		Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Missense_Mutation	SNP	ENST00000373674.3	37	c.510C>A	CCDS34440.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693376	0.68386	.	.	ENSG00000164530	ENST00000536757;ENST00000373674;ENST00000539035	T	0.18338	2.22	5.06	3.25	0.37280	Allergen V5/Tpx-1-related, conserved site (1);CAP domain (2);	0.000000	0.85682	D	0.000000	T	0.35653	0.0939	M	0.91038	3.17	0.41440	D	0.987919	D;D	0.89917	0.991;1.0	D;D	0.79108	0.918;0.992	T	0.39702	-0.9601	10	0.87932	D	0	.	8.6455	0.34003	0.0:0.7581:0.0:0.2419	.	170;170	Q6UXB8;Q6UXB8-2	PI16_HUMAN;.	K	170;170;22	ENSP00000362778:N170K	ENSP00000362778:N170K	N	+	3	2	PI16	37037646	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.257000	0.18369	1.371000	0.46172	0.561000	0.74099	AAC		PASS	0.612	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040380.1	NM_153370		36	43	36	43	---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43163986	43163986	+	Silent	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr6:43163986G>A	ENST00000252050.4	+	10	2652	c.2568G>A	c.(2566-2568)ctG>ctA	p.L856L	CUL9_ENST00000354495.3_Silent_p.L746L|CUL9_ENST00000372647.2_Silent_p.L856L	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	856					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.L856L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCGTGATCCTGATGCTGAATA	0.577																																						uc003ouk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						c.(2566-2568)CTG>CTA		p53-associated parkin-like cytoplasmic protein							59.0	51.0	54.0					6																	43163986		2203	4300	6503	SO:0001819	synonymous_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43163986G>A	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2568G>A	6.37:g.43163986G>A						CUL9_uc003oul.2_Silent_p.L856L|CUL9_uc010jyk.2_5'UTR	p.L856L	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			10	2643	+			856					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.2568G>A	CCDS4890.1																																																																																				PASS	0.577	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		6	63	6	63	---	---	---	---
DST	667	broad.mit.edu	37	6	56438586	56438586	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr6:56438586C>T	ENST00000361203.3	-	47	12501	c.12494G>A	c.(12493-12495)gGc>gAc	p.G4165D	DST_ENST00000370788.2_Missense_Mutation_p.G2079D|DST_ENST00000421834.2_Missense_Mutation_p.G2079D|DST_ENST00000370754.5_Missense_Mutation_p.G4345D|DST_ENST00000446842.2_Missense_Mutation_p.G3841D|DST_ENST00000312431.6_Missense_Mutation_p.G4165D|DST_ENST00000244364.6_Missense_Mutation_p.G1753D|DST_ENST00000370769.4_Missense_Mutation_p.G4167D			Q03001	DYST_HUMAN	dystonin	4165					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.G4167D(1)|p.G1753D(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCATCCAAGCCATCCTGCAC	0.423																																						uc003pdf.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(6769-6771)GGC>GAC		dystonin isoform 2							141.0	141.0	141.0					6																	56438586		1958	4164	6122	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56438586C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.12494G>A	6.37:g.56438586C>T	ENSP00000354508:p.Gly4165Asp					DST_uc003pcz.3_Missense_Mutation_p.G2079D|DST_uc011dxj.1_Missense_Mutation_p.G2108D|DST_uc011dxk.1_Missense_Mutation_p.G2119D|DST_uc003pcy.3_Missense_Mutation_p.G1753D|DST_uc010kaa.1_RNA	p.G2257D	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		45	6798	-	Lung NSC(77;0.103)		4165					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.6770G>A		.	.	.	.	.	.	.	.	.	.	C	19.04	3.749293	0.69533	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	T;T;T;T;T;D;T;T	0.82344	1.64;1.64;1.64;1.64;1.64;-1.6;1.64;1.64	5.95	5.08	0.68730	.	0.116034	0.38272	N	0.001752	D	0.87341	0.6153	M	0.71581	2.175	0.29478	N	0.856598	D;D;D;D;B	0.89917	1.0;0.998;0.999;0.988;0.267	D;D;D;P;B	0.91635	0.999;0.973;0.993;0.79;0.273	D	0.85557	0.1225	9	0.23302	T	0.38	.	17.4499	0.87589	0.0:0.8759:0.1241:0.0	.	2079;4167;4345;4165;1753	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	D	1753;4345;4167;2079;3841;4165;2079;4165	ENSP00000244364:G1753D;ENSP00000359790:G4345D;ENSP00000359805:G4167D;ENSP00000400883:G2079D;ENSP00000393645:G3841D;ENSP00000307959:G4165D;ENSP00000359824:G2079D;ENSP00000354508:G4165D	ENSP00000244364:G1753D	G	-	2	0	DST	56546545	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	5.770000	0.68873	1.498000	0.48600	0.650000	0.86243	GGC		PASS	0.423	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		32	67	32	67	---	---	---	---
MYO6	4646	broad.mit.edu	37	6	76580394	76580394	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr6:76580394C>T	ENST00000369977.3	+	19	2114	c.1975C>T	c.(1975-1977)Cga>Tga	p.R659*	MYO6_ENST00000462633.1_3'UTR|MYO6_ENST00000369981.3_Nonsense_Mutation_p.R659*|MYO6_ENST00000369985.4_Nonsense_Mutation_p.R659*|MYO6_ENST00000369975.1_Nonsense_Mutation_p.R659*	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	659	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.R659*(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GGATAAACTTCGAAGTACTGT	0.308																																						uc003pih.1																			1	Substitution - Nonsense(1)		lung(1)	kidney(1)|pancreas(1)	2						c.(1975-1977)CGA>TGA		myosin VI							85.0	81.0	82.0					6																	76580394		2202	4296	6498	SO:0001587	stop_gained	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76580394C>T	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.1975C>T	6.37:g.76580394C>T	ENSP00000358994:p.Arg659*					MYO6_uc003pig.1_Nonsense_Mutation_p.R659*|MYO6_uc003pii.1_Nonsense_Mutation_p.R659*	p.R659*	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	19	2254	+		all_hematologic(105;0.189)	659			Myosin head-like.		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Nonsense_Mutation	SNP	ENST00000369977.3	37	c.1975C>T	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	C	43	9.894160	0.99289	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	.	.	.	5.7	5.7	0.88788	.	0.109676	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8437	0.96701	0.0:1.0:0.0:0.0	.	.	.	.	X	659	.	ENSP00000358992:R659X	R	+	1	2	MYO6	76637114	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.822000	0.75277	2.693000	0.91896	0.585000	0.79938	CGA		PASS	0.308	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		10	33	10	33	---	---	---	---
SNAP91	9892	broad.mit.edu	37	6	84371269	84371269	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr6:84371269G>T	ENST00000439399.2	-	5	720	c.404C>A	c.(403-405)gCt>gAt	p.A135D	SNAP91_ENST00000520213.1_Missense_Mutation_p.A135D|SNAP91_ENST00000521485.1_Missense_Mutation_p.A135D|SNAP91_ENST00000520302.1_Missense_Mutation_p.A135D|SNAP91_ENST00000369694.2_Missense_Mutation_p.A135D|SNAP91_ENST00000437520.1_Missense_Mutation_p.A135D|SNAP91_ENST00000195649.6_Missense_Mutation_p.A135D|SNAP91_ENST00000428679.2_Missense_Mutation_p.A135D|SNAP91_ENST00000521743.1_Missense_Mutation_p.A135D	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	135	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				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.A135D(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)		GTAAGAAAAAGCCTTTTCATT	0.333																																						uc011dze.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(403-405)GCT>GAT		synaptosomal-associated protein, 91kDa homolog							59.0	57.0	57.0					6																	84371269		1809	4071	5880	SO:0001583	missense	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84371269G>T	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.404C>A	6.37:g.84371269G>T	ENSP00000400459:p.Ala135Asp					SNAP91_uc003pkb.2_Missense_Mutation_p.A100D|SNAP91_uc003pkc.2_Missense_Mutation_p.A135D|SNAP91_uc003pkd.2_Missense_Mutation_p.A135D|SNAP91_uc003pka.2_Missense_Mutation_p.A135D|SNAP91_uc011dzf.1_Missense_Mutation_p.A16D	p.A135D	NM_014841	NP_055656	O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	5	721	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	135			ENTH.		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	c.404C>A	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018628	0.93404	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000521931;ENST00000519779;ENST00000518309;ENST00000369690	T;T;T;T;T;T;T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.13	5.13	0.70059	ENTH/VHS (2);ANTH (1);Epsin-like, N-terminal (2);	0.101237	0.64402	D	0.000002	T	0.60728	0.2291	M	0.91354	3.2	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.998;0.998;0.999	T	0.71006	-0.4717	10	0.87932	D	0	-14.6822	18.9379	0.92594	0.0:0.0:1.0:0.0	.	135;135;135;135	O60641-3;E5RI02;O60641;E1P549	.;.;AP180_HUMAN;.	D	135	ENSP00000429776:A135D;ENSP00000358708:A135D;ENSP00000400459:A135D;ENSP00000195649:A135D;ENSP00000412492:A135D;ENSP00000413277:A135D;ENSP00000428511:A135D;ENSP00000428215:A135D;ENSP00000428026:A135D;ENSP00000430071:A135D;ENSP00000429429:A135D;ENSP00000430441:A135D;ENSP00000358704:A135D	ENSP00000195649:A135D	A	-	2	0	SNAP91	84427988	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.731000	0.98807	2.542000	0.85734	0.563000	0.77884	GCT		PASS	0.333	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			14	30	14	30	---	---	---	---
CASP8AP2	9994	broad.mit.edu	37	6	90581069	90581069	+	RNA	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr6:90581069G>C	ENST00000551025.1	+	0	7291									caspase 8 associated protein 2									p.A1952P(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TAAAACATTTGCATATTTAGC	0.338																																					Colon(187;1656 2025 17045 31481 39901)	uc003pnr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(5854-5856)GCA>CCA		caspase 8 associated protein 2							89.0	86.0	87.0					6																	90581069		1807	4071	5878			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90581069G>C	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90581069G>C						CASP8AP2_uc003pns.2_Missense_Mutation_p.A160P|CASP8AP2_uc003pnt.2_Missense_Mutation_p.A1952P|CASP8AP2_uc011dzz.1_Missense_Mutation_p.A1952P	p.A1952P	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	9	6050	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)	1952			NCOA2-binding.			Missense_Mutation	SNP	ENST00000551025.1	37	c.5854G>C																																																																																					PASS	0.338	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		37	40	37	40	---	---	---	---
CLVS2	134829	broad.mit.edu	37	6	123319198	123319198	+	Silent	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr6:123319198C>A	ENST00000275162.5	+	2	1611	c.276C>A	c.(274-276)acC>acA	p.T92T	CLVS2_ENST00000368438.1_Intron	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	92					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.T92T(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TTAAGGCCACCGACCCTGGCA	0.542																																						uc003pzi.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(274-276)ACC>ACA		retinaldehyde binding protein 1-like 2							87.0	83.0	84.0					6																	123319198		2203	4300	6503	SO:0001819	synonymous_variant	134829				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr6:123319198C>A	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.276C>A	6.37:g.123319198C>A							p.T92T	NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN			2	1145	+			92					B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Silent	SNP	ENST00000275162.5	37	c.276C>A	CCDS34525.1																																																																																				PASS	0.542	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852		52	75	52	75	---	---	---	---
PTPRK	5796	broad.mit.edu	37	6	128411138	128411138	+	Splice_Site	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr6:128411138C>T	ENST00000368215.3	-	8	1162		c.e8-1		PTPRK_ENST00000368210.3_Splice_Site|PTPRK_ENST00000368226.4_Splice_Site|PTPRK_ENST00000368227.3_Splice_Site|PTPRK_ENST00000532331.1_Splice_Site|PTPRK_ENST00000524481.1_Splice_Site|PTPRK_ENST00000368207.3_Splice_Site|PTPRK_ENST00000368213.5_Splice_Site			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K						cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.?(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CTCATAGGTTCTGAAAAATAA	0.363																																						uc003qbk.2																			1	Unknown(1)		lung(1)	ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8						c.e8-1		protein tyrosine phosphatase, receptor type, K							65.0	66.0	66.0					6																	128411138		2203	4300	6503	SO:0001630	splice_region_variant	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128411138C>T	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.1163-1G>A	6.37:g.128411138C>T						PTPRK_uc003qbj.2_Splice_Site_p.E388_splice|PTPRK_uc010kfc.2_Splice_Site_p.E388_splice|PTPRK_uc011ebu.1_Splice_Site_p.E388_splice|PTPRK_uc003qbl.1_Splice_Site_p.E258_splice|PTPRK_uc011ebv.1_Splice_Site_p.E388_splice	p.E388_splice	NM_002844	NP_002835	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	8	1530	-								B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Splice_Site	SNP	ENST00000368215.3	37	c.1163_splice		.	.	.	.	.	.	.	.	.	.	C	26.6	4.752378	0.89753	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1739	0.98173	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPRK	128452831	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.487000	0.81328	2.774000	0.95407	0.585000	0.79938	.		PASS	0.363	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1		Intron	12	65	12	65	---	---	---	---
MYB	4602	broad.mit.edu	37	6	135516964	135516964	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr6:135516964G>T	ENST00000367814.4	+	9	1213	c.1027G>T	c.(1027-1029)Gca>Tca	p.A343S	MYB_ENST00000341911.5_Missense_Mutation_p.A343S|MYB_ENST00000534121.1_Missense_Mutation_p.A343S|MYB_ENST00000527615.1_Missense_Mutation_p.A343S|MYB_ENST00000442647.2_Missense_Mutation_p.A340S|MYB_ENST00000525369.1_Intron|MYB_ENST00000316528.8_Missense_Mutation_p.A343S|MYB_ENST00000528774.1_Missense_Mutation_p.A340S|MYB_ENST00000533624.1_Missense_Mutation_p.A308S|MYB-AS1_ENST00000455534.1_RNA|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000534044.1_Missense_Mutation_p.A343S	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	343	Negative regulatory domain. {ECO:0000250}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.A343S(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TGGAGACAGTGCACCTGTTTC	0.577			T	NFIB	adenoid cystic carcinoma																																	uc003qfc.2				Dom	yes		6	6q22-23	4602	T	v-myb myeloblastosis viral oncogene homolog			E	NFIB		adenoid cystic carcinoma		2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(1027-1029)GCA>TCA		v-myb myeloblastosis viral oncogene homolog							157.0	123.0	134.0					6																	135516964		2203	4300	6503	SO:0001583	missense	4602				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding	g.chr6:135516964G>T		CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.1027G>T	6.37:g.135516964G>T	ENSP00000356788:p.Ala343Ser					MYB_uc003qfh.2_Missense_Mutation_p.A343S|MYB_uc003qfi.2_Missense_Mutation_p.A343S|MYB_uc010kgi.2_Missense_Mutation_p.A343S|MYB_uc003qfq.2_Missense_Mutation_p.A340S|MYB_uc010kgj.2_Missense_Mutation_p.A308S|MYB_uc003qfo.2_Intron|MYB_uc003qfu.2_Missense_Mutation_p.A340S|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_Intron|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_5'UTR|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_Missense_Mutation_p.A155S|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA|MYB_uc003qfb.1_Missense_Mutation_p.A343S|MYB_uc003qge.1_RNA	p.A343S	NM_005375	NP_005366	P10242	MYB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)	9	1226	+	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)	343			Negative regulatory domain (By similarity).		E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	ENST00000367814.4	37	c.1027G>T	CCDS5174.1	.	.	.	.	.	.	.	.	.	.	G	8.204	0.798722	0.16397	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624	T;T;T;T;T;T;T;T;T	0.29655	2.8;2.3;2.3;2.3;1.56;2.8;2.84;1.98;2.28	5.82	4.94	0.65067	.	0.280003	0.40385	N	0.001104	T	0.19167	0.0460	N	0.19112	0.55	0.41002	D	0.984937	D;P;P;P;D;D;B;P	0.76494	0.997;0.819;0.887;0.633;0.966;0.999;0.021;0.819	D;B;B;B;P;D;B;B	0.85130	0.985;0.248;0.43;0.256;0.472;0.997;0.011;0.266	T	0.08597	-1.0714	10	0.08837	T	0.75	-9.4832	9.4778	0.38882	0.0706:0.0:0.7853:0.1441	.	308;343;340;340;343;343;343;343	E9PI07;E9PLZ5;P10242-2;E9PNL6;E9PNA4;P10242-4;P10242;Q708E1	.;.;.;.;.;.;MYB_HUMAN;.	S	343;340;343;343;343;343;340;343;343;308	ENSP00000339992:A343S;ENSP00000410825:A340S;ENSP00000326328:A343S;ENSP00000356788:A343S;ENSP00000433227:A343S;ENSP00000434723:A340S;ENSP00000432851:A343S;ENSP00000435055:A343S;ENSP00000436605:A308S	ENSP00000237302:A343S	A	+	1	0	MYB	135558657	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.254000	0.51477	1.424000	0.47217	0.563000	0.77884	GCA		PASS	0.577	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042347.4			35	57	35	57	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146625764	146625764	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr6:146625764G>A	ENST00000282753.1	+	3	1203	c.968G>A	c.(967-969)aGa>aAa	p.R323K	GRM1_ENST00000355289.4_Missense_Mutation_p.R323K|GRM1_ENST00000507907.1_Missense_Mutation_p.R323K|GRM1_ENST00000361719.2_Missense_Mutation_p.R323K|GRM1_ENST00000392299.2_Missense_Mutation_p.R323K|GRM1_ENST00000492807.2_Missense_Mutation_p.R323K			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	323					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R323K(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TGGGCAGACAGAGATGAAGTC	0.428																																						uc010khw.1																			2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(967-969)AGA>AAA		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						65.0	55.0	58.0					6																	146625764		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146625764G>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.968G>A	6.37:g.146625764G>A	ENSP00000282753:p.Arg323Lys					GRM1_uc010khv.1_Missense_Mutation_p.R323K|GRM1_uc003qll.2_Missense_Mutation_p.R323K|GRM1_uc011edz.1_Missense_Mutation_p.R323K|GRM1_uc011eea.1_Missense_Mutation_p.R323K	p.R323K	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	4	1438	+		Ovarian(120;0.0387)	323			Extracellular (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.968G>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669445	0.47677	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	6.06	6.06	0.98353	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.81460	0.4827	L	0.31294	0.92	0.80722	D	1	B;B;D	0.54047	0.3;0.116;0.964	B;B;P	0.56127	0.167;0.1;0.792	T	0.79332	-0.1847	10	0.37606	T	0.19	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	323;323;323	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	K	323	ENSP00000354896:R323K;ENSP00000376119:R323K;ENSP00000424095:R323K;ENSP00000282753:R323K;ENSP00000347437:R323K;ENSP00000425599:R323K	ENSP00000282753:R323K	R	+	2	0	GRM1	146667457	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.863000	0.87023	2.880000	0.98712	0.650000	0.86243	AGA		PASS	0.428	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		7	15	7	15	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146720267	146720267	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr6:146720267C>A	ENST00000282753.1	+	7	2327	c.2092C>A	c.(2092-2094)Ccc>Acc	p.P698T	GRM1_ENST00000355289.4_Missense_Mutation_p.P698T|GRM1_ENST00000507907.1_Missense_Mutation_p.P698T|GRM1_ENST00000361719.2_Missense_Mutation_p.P698T|GRM1_ENST00000392299.2_Missense_Mutation_p.P698T|GRM1_ENST00000492807.2_Missense_Mutation_p.P698T			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	698					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.P698T(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CACCCGGAAGCCCAGGTTCAT	0.512																																						uc010khw.1																			2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(2092-2094)CCC>ACC		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						129.0	127.0	128.0					6																	146720267		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720267C>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2092C>A	6.37:g.146720267C>A	ENSP00000282753:p.Pro698Thr					GRM1_uc010khv.1_Missense_Mutation_p.P698T|GRM1_uc003qll.2_Missense_Mutation_p.P698T|GRM1_uc011edz.1_Missense_Mutation_p.P698T|GRM1_uc011eea.1_Missense_Mutation_p.P698T	p.P698T	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	2562	+		Ovarian(120;0.0387)	698			Cytoplasmic (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.2092C>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258530	0.80246	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39;-2.39	5.51	5.51	0.81932	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95059	0.8400	M	0.87547	2.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.99	D	0.95354	0.8449	10	0.87932	D	0	.	19.4081	0.94656	0.0:1.0:0.0:0.0	.	698;698;698	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	T	698	ENSP00000354896:P698T;ENSP00000376119:P698T;ENSP00000424095:P698T;ENSP00000282753:P698T;ENSP00000347437:P698T;ENSP00000425599:P698T	ENSP00000282753:P698T	P	+	1	0	GRM1	146761960	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.604000	0.88044	0.585000	0.79938	CCC		PASS	0.512	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		45	104	45	104	---	---	---	---
STXBP5	134957	broad.mit.edu	37	6	147680256	147680256	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr6:147680256C>T	ENST00000321680.6	+	23	2342	c.2342C>T	c.(2341-2343)tCa>tTa	p.S781L	STXBP5_ENST00000179882.6_Missense_Mutation_p.S436L|STXBP5_ENST00000367481.3_Missense_Mutation_p.S745L|STXBP5_ENST00000367480.3_Missense_Mutation_p.S728L	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	781					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)	p.S781L(1)|p.S745L(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TCACGGAGTTCAAGTGTAACA	0.398																																						uc003qlz.2																			2	Substitution - Missense(2)		lung(2)		0						c.(2341-2343)TCA>TTA		syntaxin binding protein 5 (tomosyn) isoform b							84.0	84.0	84.0					6																	147680256		2203	4300	6503	SO:0001583	missense	134957				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147680256C>T	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.2342C>T	6.37:g.147680256C>T	ENSP00000321826:p.Ser781Leu					STXBP5_uc010khz.1_Missense_Mutation_p.S745L|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.S436L	p.S781L	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	23	2503	+		Ovarian(120;0.0164)	781					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.2342C>T	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	C	35	5.493735	0.96339	.	.	ENSG00000164506	ENST00000367479;ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882;ENST00000392291	T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.49643	0.1569	M	0.79693	2.465	0.80722	D	1	D;D;D	0.67145	0.996;0.994;0.994	D;D;D	0.77557	0.99;0.985;0.983	T	0.52102	-0.8620	10	0.62326	D	0.03	.	19.7755	0.96391	0.0:1.0:0.0:0.0	.	745;781;436	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	L	120;745;781;728;436;105	ENSP00000356451:S745L;ENSP00000321826:S781L;ENSP00000356450:S728L;ENSP00000179882:S436L;ENSP00000376112:S105L	ENSP00000179882:S436L	S	+	2	0	STXBP5	147721949	1.000000	0.71417	0.960000	0.40013	0.983000	0.72400	7.487000	0.81328	2.676000	0.91093	0.655000	0.94253	TCA		PASS	0.398	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			14	36	14	36	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152763307	152763307	+	Missense_Mutation	SNP	C	C	T	rs141164314		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr6:152763307C>T	ENST00000367255.5	-	31	4512	c.3911G>A	c.(3910-3912)gGg>gAg	p.G1304E	SYNE1_ENST00000367248.3_Missense_Mutation_p.G1294E|SYNE1_ENST00000341594.5_Missense_Mutation_p.G1370E|SYNE1_ENST00000265368.4_Missense_Mutation_p.G1304E|SYNE1_ENST00000423061.1_Missense_Mutation_p.G1311E|SYNE1_ENST00000367253.4_Missense_Mutation_p.G1304E|SYNE1_ENST00000448038.1_Missense_Mutation_p.G1311E|SYNE1_ENST00000413186.2_Missense_Mutation_p.G1304E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1304					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.G1304E(2)|p.G1311E(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGCAGCCCCCCTTCTCCCTG	0.592										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(3910-3912)GGG>GAG		spectrin repeat containing, nuclear envelope 1							74.0	67.0	69.0					6																	152763307		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152763307C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3911G>A	6.37:g.152763307C>T	ENSP00000356224:p.Gly1304Glu	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.G1311E|SYNE1_uc003qou.3_Missense_Mutation_p.G1304E|SYNE1_uc010kjb.1_Missense_Mutation_p.G1287E|SYNE1_uc003qow.2_Missense_Mutation_p.G599E|SYNE1_uc003qox.1_Missense_Mutation_p.G820E	p.G1304E	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	31	4513	-		Ovarian(120;0.0955)	1304			Potential.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.3911G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	1.050	-0.676128	0.03378	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.86627	0.83;0.83;0.74;0.83;0.92;-2.05;-2.15;-2.15	5.41	2.58	0.30949	.	0.420450	0.20558	N	0.089976	T	0.70245	0.3202	L	0.45137	1.4	0.80722	D	1	P;B;B;B;B;B	0.52577	0.954;0.001;0.009;0.121;0.001;0.004	P;B;B;B;B;B	0.47206	0.541;0.001;0.009;0.036;0.001;0.003	T	0.73639	-0.3919	10	0.02654	T	1	.	10.6616	0.45706	0.0:0.6824:0.2499:0.0677	.	1287;1304;1294;1304;1304;1311	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	E	1304;1311;1304;1311;1370;1304;1294;1304	ENSP00000356224:G1304E;ENSP00000396024:G1311E;ENSP00000265368:G1304E;ENSP00000390975:G1311E;ENSP00000341887:G1370E;ENSP00000356222:G1304E;ENSP00000356217:G1294E;ENSP00000414510:G1304E	ENSP00000265368:G1304E	G	-	2	0	SYNE1	152805000	0.001000	0.12720	0.023000	0.16930	0.009000	0.06853	0.277000	0.18734	0.317000	0.23160	-0.156000	0.13503	GGG		PASS	0.592	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		38	83	38	83	---	---	---	---
NOX3	50508	broad.mit.edu	37	6	155728279	155728279	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr6:155728279G>T	ENST00000159060.2	-	12	1667	c.1565C>A	c.(1564-1566)gCc>gAc	p.A522D		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	522					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)	p.A522D(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GTGATTGTAGGCAATCTGCTT	0.483																																						uc003qqm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1564-1566)GCC>GAC		NADPH oxidase 3							234.0	186.0	202.0					6																	155728279		2203	4300	6503	SO:0001583	missense	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155728279G>T	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1565C>A	6.37:g.155728279G>T	ENSP00000159060:p.Ala522Asp						p.A522D	NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	12	1668	-		Breast(66;0.0183)	522			Cytoplasmic (Potential).		Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	c.1565C>A	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990264	0.54041	.	.	ENSG00000074771	ENST00000159060	T	0.64438	-0.1	5.34	5.34	0.76211	Ferric reductase, NAD binding (1);	0.000000	0.64402	D	0.000003	T	0.82075	0.4958	M	0.91140	3.18	0.45995	D	0.998801	D	0.89917	1.0	D	0.81914	0.995	D	0.85287	0.1065	10	0.66056	D	0.02	-20.6226	19.3973	0.94612	0.0:0.0:1.0:0.0	.	522	Q9HBY0	NOX3_HUMAN	D	522	ENSP00000159060:A522D	ENSP00000159060:A522D	A	-	2	0	NOX3	155769971	1.000000	0.71417	0.917000	0.36280	0.340000	0.28889	3.851000	0.55926	2.660000	0.90430	0.655000	0.94253	GCC		PASS	0.483	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			31	47	31	47	---	---	---	---
ZDHHC14	79683	broad.mit.edu	37	6	158014099	158014099	+	Silent	SNP	G	G	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr6:158014099G>T	ENST00000359775.5	+	3	1375	c.486G>T	c.(484-486)gtG>gtT	p.V162V	ZDHHC14_ENST00000414563.2_Silent_p.V162V|ZDHHC14_ENST00000341375.8_3'UTR			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	162					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.V162V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		GCCAGACCGTGAAACTTAAAT	0.532																																						uc003qqt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(484-486)GTG>GTT		zinc finger, DHHC-type containing 14 isoform 1							95.0	91.0	92.0					6																	158014099		2203	4297	6500	SO:0001819	synonymous_variant	79683					integral to membrane	acyltransferase activity|zinc ion binding	g.chr6:158014099G>T	AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"""Zinc fingers, DHHC-type"""	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.486G>T	6.37:g.158014099G>T						ZDHHC14_uc003qqs.2_Silent_p.V162V|ZDHHC14_uc010kjm.1_Silent_p.V57V	p.V162V	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)	3	983	+		Breast(66;0.00586)|Ovarian(120;0.123)	162					A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Silent	SNP	ENST00000359775.5	37	c.486G>T	CCDS5252.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.578118	0.28180	.	.	ENSG00000175048	ENST00000340347	.	.	.	5.71	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.6475	16.0851	0.81042	0.0:0.0:0.8656:0.1344	.	.	.	.	L	20	.	.	X	+	2	2	ZDHHC14	157934087	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.514000	0.45503	2.171000	0.68590	0.533000	0.62120	TGA		PASS	0.532	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042841.2	NM_153746		54	75	54	75	---	---	---	---
MAS1	4142	broad.mit.edu	37	6	160328118	160328118	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr6:160328118C>A	ENST00000252660.4	+	1	145	c.131C>A	c.(130-132)cCa>cAa	p.P44Q		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 proto-oncogene, G protein-coupled receptor	44					activation of NF-kappaB-inducing kinase activity (GO:0007250)|anatomical structure morphogenesis (GO:0009653)|cell proliferation (GO:0008283)|cellular response to peptide hormone stimulus (GO:0071375)|G-protein coupled receptor signaling pathway (GO:0007186)|hippocampus development (GO:0021766)|male gonad development (GO:0008584)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|protein kinase C signaling (GO:0070528)|regulation of inflammatory response (GO:0050727)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin receptor activity (GO:0001595)|angiotensin type II receptor activity (GO:0004945)|G-protein coupled receptor activity (GO:0004930)|peptide binding (GO:0042277)|peptide hormone binding (GO:0017046)	p.P44Q(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		AGCATCTCCCCAGTGGGGTTT	0.527																																						uc003qsz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)	4						c.(130-132)CCA>CAA		MAS1 oncogene							195.0	190.0	191.0					6																	160328118		2203	4300	6503	SO:0001583	missense	4142				anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity	g.chr6:160328118C>A	M13150	CCDS5272.1	6q24-q27	2014-06-26	2014-06-26		ENSG00000130368	ENSG00000130368		"""GPCR / Class A : Orphans"""	6899	protein-coding gene	gene with protein product		165180	"""MAS1 oncogene"""				Standard	NM_002377		Approved		uc003qsz.3	P04201	OTTHUMG00000015944	ENST00000252660.4:c.131C>A	6.37:g.160328118C>A	ENSP00000252660:p.Pro44Gln						p.P44Q	NM_002377	NP_002368	P04201	MAS_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)	1	145	+		Breast(66;0.000776)|Ovarian(120;0.0303)	44			Helical; Name=1; (Potential).		E1P5B3|Q2TBC9|Q6FG47	Missense_Mutation	SNP	ENST00000252660.4	37	c.131C>A	CCDS5272.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.674160	0.29693	.	.	ENSG00000130368	ENST00000252660	T	0.09255	3.0	5.72	4.85	0.62838	.	0.368802	0.23217	N	0.050616	T	0.04998	0.0134	L	0.29908	0.895	0.21553	N	0.999643	D	0.60575	0.988	P	0.47981	0.563	T	0.15206	-1.0445	10	0.72032	D	0.01	.	9.9578	0.41678	0.0:0.8297:0.0:0.1703	.	44	P04201	MAS_HUMAN	Q	44	ENSP00000252660:P44Q	ENSP00000252660:P44Q	P	+	2	0	MAS1	160248108	0.971000	0.33674	0.347000	0.25668	0.072000	0.16883	2.856000	0.48341	1.414000	0.47017	0.655000	0.94253	CCA		PASS	0.527	MAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042930.2	NM_002377		68	94	68	94	---	---	---	---
CARD11	84433	broad.mit.edu	37	7	2962953	2962953	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr7:2962953G>A	ENST00000396946.4	-	16	2358	c.1955C>T	c.(1954-1956)tCg>tTg	p.S652L		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	652					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.S645L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AGAGGTGACCGAAGGCCGGAA	0.652			Mis		DLBCL																																	uc003smv.2				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50						c.(1954-1956)TCG>TTG		caspase recruitment domain family, member 11							31.0	36.0	34.0					7																	2962953		2190	4285	6475	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2962953G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1955C>T	7.37:g.2962953G>A	ENSP00000380150:p.Ser652Leu						p.S652L	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	16	2359	-		Ovarian(82;0.0115)	652					A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.1955C>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	14.57	2.574010	0.45902	.	.	ENSG00000198286	ENST00000396946;ENST00000355508	T;T	0.49432	0.78;0.78	4.89	4.89	0.63831	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.38665	0.1049	L	0.27053	0.805	0.80722	D	1	D	0.56746	0.977	B	0.43052	0.406	T	0.31696	-0.9934	10	0.44086	T	0.13	-8.5532	16.2253	0.82286	0.0:0.0:1.0:0.0	.	652	Q9BXL7	CAR11_HUMAN	L	652;123	ENSP00000380150:S652L;ENSP00000347695:S123L	ENSP00000347695:S123L	S	-	2	0	CARD11	2929479	1.000000	0.71417	0.928000	0.36995	0.294000	0.27393	9.051000	0.93849	2.273000	0.75805	0.555000	0.69702	TCG		PASS	0.652	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		16	102	16	102	---	---	---	---
PAPOLB	56903	broad.mit.edu	37	7	4900561	4900561	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr7:4900561C>T	ENST00000404991.1	-	1	1064	c.878G>A	c.(877-879)cGg>cAg	p.R293Q	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	293					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		ATTAAGATTCCGTTCTTCAGG	0.443																																						uc003snk.2																			0				ovary(1)	1						c.(880-882)CGG>CAG		poly(A) polymerase beta (testis specific)							140.0	135.0	137.0					7																	4900561		2201	4299	6500	SO:0001583	missense	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4900561C>T	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.878G>A	7.37:g.4900561C>T	ENSP00000384700:p.Arg293Gln					RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	p.R294Q	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	1065	-		Ovarian(82;0.0175)	293					Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37	c.881G>A		.	.	.	.	.	.	.	.	.	.	C	4.118	0.020115	0.08006	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.37	0.603	0.17541	.	.	.	.	.	T	0.13586	0.0329	N	0.02802	-0.49	0.18873	N	0.999987	B	0.11235	0.004	B	0.16289	0.015	T	0.34279	-0.9835	8	0.13853	T	0.58	.	7.4203	0.27067	0.0:0.5403:0.0:0.4597	.	294	A4D1Z6	.	Q	293	.	ENSP00000384700:R293Q	R	-	2	0	PAPOLB	4867087	1.000000	0.71417	0.182000	0.23118	0.976000	0.68499	1.588000	0.36633	0.095000	0.17434	-0.216000	0.12614	CGG		PASS	0.443	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		10	153	10	153	---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11445965	11445965	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr7:11445965T>C	ENST00000423059.4	-	22	4450	c.4199A>G	c.(4198-4200)aAt>aGt	p.N1400S	AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1400	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N1400S(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CAGAACCATATTTTTATTACC	0.418										HNSCC(18;0.044)																												uc003ssf.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(4198-4200)AAT>AGT		thrombospondin, type I, domain containing 7A							118.0	119.0	119.0					7																	11445965		1874	4113	5987	SO:0001583	missense	221981					integral to membrane		g.chr7:11445965T>C		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4199A>G	7.37:g.11445965T>C	ENSP00000406482:p.Asn1400Ser	HNSCC(18;0.044)					p.N1400S	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	21	4451	-			1400			TSP type-1 14.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000423059.4	37	c.4199A>G	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	T	13.15	2.150262	0.37923	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.58060	0.36	6.07	6.07	0.98685	.	0.385687	0.34531	N	0.003886	T	0.39091	0.1065	N	0.22421	0.69	0.38914	D	0.95758	B	0.13594	0.008	B	0.15052	0.012	T	0.32929	-0.9888	10	0.10902	T	0.67	.	16.6288	0.85011	0.0:0.0:0.0:1.0	.	1400	Q9UPZ6	THS7A_HUMAN	S	1400	ENSP00000406482:N1400S	ENSP00000262042:N1400S	N	-	2	0	THSD7A	11412490	1.000000	0.71417	0.973000	0.42090	0.849000	0.48306	5.070000	0.64376	2.326000	0.78906	0.533000	0.62120	AAT		PASS	0.418	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		29	129	29	129	---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11501683	11501683	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr7:11501683T>C	ENST00000423059.4	-	10	2707	c.2456A>G	c.(2455-2457)tAt>tGt	p.Y819C	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	819	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y819C(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTTCTCTTCATAGAGGGGATC	0.542										HNSCC(18;0.044)																												uc003ssf.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2455-2457)TAT>TGT		thrombospondin, type I, domain containing 7A							184.0	178.0	180.0					7																	11501683		1973	4153	6126	SO:0001583	missense	221981					integral to membrane		g.chr7:11501683T>C		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2456A>G	7.37:g.11501683T>C	ENSP00000406482:p.Tyr819Cys	HNSCC(18;0.044)					p.Y819C	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	10	2708	-			819			TSP type-1 8.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000423059.4	37	c.2456A>G	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	T	12.60	1.986464	0.35036	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.52754	0.65	5.27	5.27	0.74061	.	0.584654	0.19909	N	0.103324	T	0.66499	0.2795	M	0.85041	2.73	0.33380	D	0.574775	D	0.63880	0.993	D	0.64687	0.928	T	0.75425	-0.3322	10	0.38643	T	0.18	.	8.8909	0.35432	0.2085:0.0:0.0:0.7915	.	819	Q9UPZ6	THS7A_HUMAN	C	819	ENSP00000406482:Y819C	ENSP00000262042:Y819C	Y	-	2	0	THSD7A	11468208	0.005000	0.15991	1.000000	0.80357	0.257000	0.26127	-0.003000	0.12901	2.340000	0.79590	0.528000	0.53228	TAT		PASS	0.542	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		96	169	96	169	---	---	---	---
AGMO	392636	broad.mit.edu	37	7	15240918	15240918	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr7:15240918A>T	ENST00000342526.3	-	13	1499	c.1330T>A	c.(1330-1332)Tgg>Agg	p.W444R		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	444					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)	p.W444R(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						GGTTATTTCCAAGGGTGAGAG	0.303																																						uc003stb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1330-1332)TGG>AGG		transmembrane protein 195							92.0	97.0	95.0					7																	15240918		2203	4296	6499	SO:0001583	missense	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15240918A>T		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.1330T>A	7.37:g.15240918A>T	ENSP00000341662:p.Trp444Arg						p.W444R	NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN			13	1500	-			444					A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.1330T>A	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	A	11.30	1.599075	0.28534	.	.	ENSG00000187546	ENST00000342526	T	0.29917	1.55	4.91	2.46	0.29980	.	0.629432	0.14978	N	0.287403	T	0.17023	0.0409	N	0.08118	0	0.09310	N	1	B	0.25169	0.119	B	0.26517	0.07	T	0.22977	-1.0201	10	0.87932	D	0	-10.7089	10.1939	0.43043	0.6783:0.3217:0.0:0.0	.	444	Q6ZNB7	ALKMO_HUMAN	R	444	ENSP00000341662:W444R	ENSP00000341662:W444R	W	-	1	0	AGMO	15207443	0.636000	0.27207	0.050000	0.19076	0.037000	0.13140	0.157000	0.16402	0.418000	0.25898	0.533000	0.62120	TGG		PASS	0.303	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		23	50	23	50	---	---	---	---
NUPL2	11097	broad.mit.edu	37	7	23226676	23226676	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr7:23226676G>A	ENST00000258742.5	+	3	615	c.356G>A	c.(355-357)gGa>gAa	p.G119E	NUPL2_ENST00000487595.1_3'UTR|AC005082.1_ENST00000366347.4_Intron|NUPL2_ENST00000410002.3_Missense_Mutation_p.G119E	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	119	Interaction with HIV-1 Vpr.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)	p.G119E(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGCAGGGAAGGAATTGTAAAA	0.308																																						uc003svu.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(355-357)GGA>GAA		nucleoporin like 2							121.0	133.0	129.0					7																	23226676		2203	4300	6503	SO:0001583	missense	11097				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding	g.chr7:23226676G>A	U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"""nucleoporin-like protein 1"""					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.356G>A	7.37:g.23226676G>A	ENSP00000258742:p.Gly119Glu					NUPL2_uc003svv.2_RNA|NUPL2_uc003svw.2_5'UTR|NUPL2_uc011jyw.1_RNA|NUPL2_uc003svx.2_5'UTR	p.G119E	NM_007342	NP_031368	O15504	NUPL2_HUMAN			3	615	+			119			Interaction with HIV-1 Vpr.		A4D143|B4DP42|Q49AE7|Q9BS49	Missense_Mutation	SNP	ENST00000258742.5	37	c.356G>A	CCDS5379.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920531	0.33908	.	.	ENSG00000136243	ENST00000258742;ENST00000410002;ENST00000413919	T;T;T	0.39406	1.08;1.08;1.08	5.55	5.55	0.83447	.	0.360661	0.32357	N	0.006210	T	0.50274	0.1606	M	0.62723	1.935	0.35811	D	0.823887	D	0.76494	0.999	D	0.65773	0.938	T	0.56420	-0.7982	10	0.02654	T	1	-10.901	8.4158	0.32670	0.0778:0.0:0.767:0.1552	.	119	O15504	NUPL2_HUMAN	E	119	ENSP00000258742:G119E;ENSP00000387330:G119E;ENSP00000401475:G119E	ENSP00000258742:G119E	G	+	2	0	NUPL2	23193201	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	1.593000	0.36686	2.623000	0.88846	0.655000	0.94253	GGA		PASS	0.308	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	NM_007342		40	54	40	54	---	---	---	---
HOXA7	3204	broad.mit.edu	37	7	27195942	27195942	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr7:27195942C>T	ENST00000242159.3	-	1	356	c.223G>A	c.(223-225)Gac>Aac	p.D75N	HOXA7_ENST00000523796.2_5'Flank|HOXA-AS3_ENST00000518947.2_RNA|RP1-170O19.21_ENST00000602610.1_lincRNA	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	75				DA -> RR (in Ref. 8; AAD00727). {ECO:0000305}.	angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.D75N(1)		endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						CCGTAGGCGTCGGCGCCCAGG	0.677																																						uc003sys.2																			1	Substitution - Missense(1)		lung(1)		0						c.(223-225)GAC>AAC		homeobox A7							24.0	33.0	30.0					7																	27195942		2202	4296	6498	SO:0001583	missense	3204				angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding	g.chr7:27195942C>T		CCDS5408.1	7p15.2	2011-06-20	2005-12-22		ENSG00000122592	ENSG00000122592		"""Homeoboxes / ANTP class : HOXL subclass"""	5108	protein-coding gene	gene with protein product		142950	"""homeo box A7"""	HOX1A, HOX1		1973146, 1358459	Standard	NM_006896		Approved		uc003sys.3	P31268	OTTHUMG00000023217	ENST00000242159.3:c.223G>A	7.37:g.27195942C>T	ENSP00000242159:p.Asp75Asn						p.D75N	NM_006896	NP_008827	P31268	HXA7_HUMAN			1	355	-			75	DA -> RR (in Ref. 8; AAD00727).				A4D191|O43368|O43486|O95655|Q9NSC8|Q9UDM1	Missense_Mutation	SNP	ENST00000242159.3	37	c.223G>A	CCDS5408.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784802	0.49997	.	.	ENSG00000122592	ENST00000242159	T	0.28895	1.59	5.62	5.62	0.85841	.	0.052517	0.64402	D	0.000001	T	0.25606	0.0623	L	0.50333	1.59	0.52099	D	0.999945	P	0.47409	0.895	B	0.32090	0.14	T	0.10941	-1.0608	10	0.16420	T	0.52	.	19.6604	0.95864	0.0:1.0:0.0:0.0	.	75	P31268	HXA7_HUMAN	N	75	ENSP00000242159:D75N	ENSP00000242159:D75N	D	-	1	0	HOXA7	27162467	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	5.748000	0.68697	2.656000	0.90262	0.561000	0.74099	GAC		PASS	0.677	HOXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358695.1			36	45	36	45	---	---	---	---
PDE1C	5137	broad.mit.edu	37	7	31793022	31793022	+	Silent	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr7:31793022G>A	ENST00000396191.1	-	18	2561	c.2106C>T	c.(2104-2106)atC>atT	p.I702I	PDE1C_ENST00000321453.7_Silent_p.I702I|PDE1C_ENST00000396193.1_Silent_p.I762I	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	702					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.I702I(1)|p.I762I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	AGTTATGTGAGATGTTCTGAA	0.473																																						uc003tcm.1																			2	Substitution - coding silent(2)		lung(2)	skin(3)|central_nervous_system(1)	4						c.(2104-2106)ATC>ATT		phosphodiesterase 1C							405.0	402.0	403.0					7																	31793022		876	1991	2867	SO:0001819	synonymous_variant	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31793022G>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.2106C>T	7.37:g.31793022G>A						PDE1C_uc003tcn.1_Silent_p.I702I|PDE1C_uc003tco.1_Silent_p.I762I	p.I702I	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		18	2575	-			702					B3KPC6|E9PE92|Q14124|Q8NB10	Silent	SNP	ENST00000396191.1	37	c.2106C>T	CCDS55099.1																																																																																				PASS	0.473	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			48	397	48	397	---	---	---	---
BBS9	27241	broad.mit.edu	37	7	33573664	33573664	+	Silent	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr7:33573664G>A	ENST00000242067.6	+	21	2918	c.2397G>A	c.(2395-2397)ctG>ctA	p.L799L	BBS9_ENST00000396127.2_Silent_p.L764L|BBS9_ENST00000350941.3_Silent_p.L759L|BBS9_ENST00000354265.4_Silent_p.L764L|BBS9_ENST00000355070.2_Silent_p.L794L	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	799					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.L799L(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			ACAGCCAGCTGAACATACCCA	0.507									Bardet-Biedl syndrome																													uc003tdn.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(2395-2397)CTG>CTA		parathyroid hormone-responsive B1 isoform 2							157.0	130.0	139.0					7																	33573664		2203	4300	6503	SO:0001819	synonymous_variant	27241	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33573664G>A		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.2397G>A	7.37:g.33573664G>A						BBS9_uc003tdo.1_Silent_p.L764L|BBS9_uc003tdp.1_Silent_p.L794L|BBS9_uc003tdq.1_Silent_p.L759L|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Silent_p.L323L|BBS9_uc003tds.1_Silent_p.L222L|BBS9_uc003tdt.2_RNA	p.L799L	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		21	2910	+			799					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Silent	SNP	ENST00000242067.6	37	c.2397G>A	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	G	6.127	0.391666	0.11581	.	.	ENSG00000122507	ENST00000434373	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	T	0.71762	0.3378	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69007	-0.5259	4	.	.	.	-7.8007	15.4787	0.75508	0.0676:0.0:0.9324:0.0	.	.	.	.	K	366	.	.	E	+	1	0	BBS9	33540189	1.000000	0.71417	0.806000	0.32338	0.609000	0.37215	4.352000	0.59404	2.826000	0.97356	0.655000	0.94253	GAA		PASS	0.507	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			36	129	36	129	---	---	---	---
GCK	2645	broad.mit.edu	37	7	44192988	44192988	+	Silent	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr7:44192988C>T	ENST00000403799.3	-	2	589	c.120G>A	c.(118-120)gaG>gaA	p.E40E	GCK_ENST00000345378.2_Silent_p.E41E|GCK_ENST00000395796.3_Silent_p.E39E|GCK_ENST00000437084.1_Silent_p.E40E|GCK_ENST00000476008.1_5'Flank	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	40	Hexokinase type-1.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)	p.E40E(1)|p.E41E(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CGCGGTCCATCTCCTTCTGCA	0.607																																						uc003tkl.2																			2	Substitution - coding silent(2)		lung(2)	skin(3)|lung(1)	4						c.(118-120)GAG>GAA		glucokinase isoform 1							249.0	215.0	227.0					7																	44192988		2203	4300	6503	SO:0001819	synonymous_variant	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44192988C>T	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.120G>A	7.37:g.44192988C>T						GCK_uc003tkj.1_Silent_p.E39E|GCK_uc003tkk.1_Silent_p.E41E	p.E40E	NM_000162	NP_000153	P35557	HXK4_HUMAN			2	590	-			40					A4D2J2|A4D2J3|Q05810	Silent	SNP	ENST00000403799.3	37	c.120G>A	CCDS5479.1																																																																																				PASS	0.607	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			13	306	13	306	---	---	---	---
GCK	2645	broad.mit.edu	37	7	44193044	44193044	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr7:44193044C>G	ENST00000403799.3	-	2	533	c.64G>C	c.(64-66)Gag>Cag	p.E22Q	GCK_ENST00000345378.2_Missense_Mutation_p.E23Q|GCK_ENST00000395796.3_Missense_Mutation_p.E21Q|GCK_ENST00000437084.1_Missense_Mutation_p.E22Q|GCK_ENST00000476008.1_5'UTR	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	22	Hexokinase type-1.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)	p.E22Q(1)|p.E23Q(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						AGCTGGAACTCTGCCAGGATC	0.637																																						uc003tkl.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|lung(1)	4						c.(64-66)GAG>CAG		glucokinase isoform 1							175.0	160.0	165.0					7																	44193044		2203	4300	6503	SO:0001583	missense	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44193044C>G	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.64G>C	7.37:g.44193044C>G	ENSP00000384247:p.Glu22Gln					GCK_uc003tkj.1_Missense_Mutation_p.E21Q|GCK_uc003tkk.1_Missense_Mutation_p.E23Q	p.E22Q	NM_000162	NP_000153	P35557	HXK4_HUMAN			2	534	-			22					A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	ENST00000403799.3	37	c.64G>C	CCDS5479.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949858	0.73787	.	.	ENSG00000106633	ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D	0.98150	-4.75;-4.75;-4.75;-4.75	5.26	5.26	0.73747	Hexokinase, N-terminal (1);	0.206543	0.49305	D	0.000142	D	0.96052	0.8714	N	0.17723	0.515	0.58432	D	0.999999	D;B;D	0.64830	0.99;0.001;0.994	P;B;P	0.53912	0.737;0.002;0.728	D	0.94357	0.7584	10	0.13853	T	0.58	-29.286	18.8512	0.92230	0.0:1.0:0.0:0.0	.	22;23;21	P35557;P35557-2;P35557-3	HXK4_HUMAN;.;.	Q	22;21;23;22	ENSP00000384247:E22Q;ENSP00000379142:E21Q;ENSP00000223366:E23Q;ENSP00000402840:E22Q	ENSP00000223366:E23Q	E	-	1	0	GCK	44159569	1.000000	0.71417	0.980000	0.43619	0.969000	0.65631	4.905000	0.63286	2.620000	0.88729	0.655000	0.94253	GAG		PASS	0.637	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			9	267	9	267	---	---	---	---
CCDC146	57639	broad.mit.edu	37	7	76797022	76797022	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr7:76797022G>C	ENST00000285871.4	+	2	164	c.37G>C	c.(37-39)Gaa>Caa	p.E13Q	CCDC146_ENST00000431197.1_5'UTR|RP11-467H10.2_ENST00000459742.1_RNA	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	13	Poly-Glu.							p.E13Q(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AAAAGAAGAGGAAGAGGAGAA	0.358																																						uc003uga.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(37-39)GAA>CAA		coiled-coil domain containing 146							51.0	52.0	51.0					7																	76797022		2203	4295	6498	SO:0001583	missense	57639							g.chr7:76797022G>C	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.37G>C	7.37:g.76797022G>C	ENSP00000285871:p.Glu13Gln					CCDC146_uc003ufz.1_Missense_Mutation_p.E13Q	p.E13Q	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN			2	164	+		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)	13			Poly-Glu.		A8K8X6|Q9P223	Missense_Mutation	SNP	ENST00000285871.4	37	c.37G>C	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.191861	0.38707	.	.	ENSG00000135205	ENST00000415750;ENST00000285871	D;D	0.84730	-1.89;-1.89	3.65	2.76	0.32466	.	0.085479	0.45606	D	0.000352	T	0.76772	0.4034	L	0.34521	1.04	0.80722	D	1	B;P	0.51351	0.241;0.944	B;P	0.46718	0.139;0.525	T	0.71547	-0.4560	10	0.23891	T	0.37	-13.496	6.3273	0.21251	0.1352:0.0:0.8648:0.0	.	13;13	Q8IYE0;C9JRR4	CC146_HUMAN;.	Q	13	ENSP00000388649:E13Q;ENSP00000285871:E13Q	ENSP00000285871:E13Q	E	+	1	0	AC007000.1	76634958	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.639000	0.37176	2.023000	0.59567	0.454000	0.30748	GAA		PASS	0.358	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		11	44	11	44	---	---	---	---
ABCB4	5244	broad.mit.edu	37	7	87049377	87049377	+	Silent	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr7:87049377C>T	ENST00000265723.4	-	19	2442	c.2331G>A	c.(2329-2331)ggG>ggA	p.G777G	ABCB4_ENST00000453593.1_Silent_p.G777G|ABCB4_ENST00000358400.3_Silent_p.G777G|ABCB4_ENST00000545634.1_Silent_p.G777G|ABCB4_ENST00000359206.3_Silent_p.G777G	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	777	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.G777G(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CGCCAGCTTTCCCAAACGTGA	0.433																																						uc003uiv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)|pancreas(1)	6						c.(2329-2331)GGG>GGA		ATP-binding cassette, subfamily B, member 4							133.0	125.0	128.0					7																	87049377		2203	4300	6503	SO:0001819	synonymous_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87049377C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2331G>A	7.37:g.87049377C>T						ABCB4_uc003uiw.1_Silent_p.G777G|ABCB4_uc003uix.1_Silent_p.G777G	p.G777G	NM_018849	NP_061337	P21439	MDR3_HUMAN			19	2407	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		777			ABC transmembrane type-1 2.|Cytoplasmic (By similarity).		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	ENST00000265723.4	37	c.2331G>A	CCDS5606.1																																																																																				PASS	0.433	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		24	111	24	111	---	---	---	---
CLDN12	9069	broad.mit.edu	37	7	90042641	90042641	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr7:90042641G>T	ENST00000287916.4	+	3	938	c.651G>T	c.(649-651)atG>atT	p.M217I	CLDN12_ENST00000535571.1_Missense_Mutation_p.M217I|CTB-13L3.1_ENST00000480135.1_RNA|CLDN12_ENST00000394605.2_Missense_Mutation_p.M217I	NM_001185073.2|NM_012129.4	NP_001172002.1|NP_036261.1	P56749	CLD12_HUMAN	claudin 12	217					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.M217I(1)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						CACCCAGTATGCATACTTACT	0.418																																						uc003ukp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(649-651)ATG>ATT		claudin 12							196.0	188.0	191.0					7																	90042641		2203	4300	6503	SO:0001583	missense	9069				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr7:90042641G>T	AJ250713	CCDS5618.1	7q21	2008-07-18			ENSG00000157224	ENSG00000157224		"""Claudins"""	2034	protein-coding gene	gene with protein product		611232					Standard	NM_001185072		Approved		uc003ukr.3	P56749	OTTHUMG00000156612	ENST00000287916.4:c.651G>T	7.37:g.90042641G>T	ENSP00000287916:p.Met217Ile					CLDN12_uc003ukq.2_Missense_Mutation_p.M217I|CLDN12_uc010leq.2_Missense_Mutation_p.M217I|CLDN12_uc003ukr.2_Missense_Mutation_p.M217I|CLDN12_uc003uks.2_Missense_Mutation_p.M217I	p.M217I	NM_012129	NP_036261	P56749	CLD12_HUMAN			5	1287	+			217			Cytoplasmic (Potential).		D6W5Q4|Q7LDZ0	Missense_Mutation	SNP	ENST00000287916.4	37	c.651G>T	CCDS5618.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424294	0.43020	.	.	ENSG00000157224	ENST00000496677;ENST00000287916;ENST00000535571;ENST00000394605	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77	5.55	5.55	0.83447	.	0.130183	0.64402	D	0.000001	T	0.63438	0.2511	N	0.19112	0.55	0.43152	D	0.994921	B	0.17268	0.021	B	0.11329	0.006	T	0.56074	-0.8039	10	0.26408	T	0.33	-21.9339	19.6941	0.96016	0.0:0.0:1.0:0.0	.	217	P56749	CLD12_HUMAN	I	217	ENSP00000419053:M217I;ENSP00000287916:M217I;ENSP00000443476:M217I;ENSP00000378103:M217I	ENSP00000287916:M217I	M	+	3	0	CLDN12	89880577	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.374000	0.44274	2.885000	0.99019	0.655000	0.94253	ATG		PASS	0.418	CLDN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059221.1	NM_012129		16	291	16	291	---	---	---	---
CASD1	64921	broad.mit.edu	37	7	94174881	94174881	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr7:94174881G>T	ENST00000297273.4	+	12	1788	c.1501G>T	c.(1501-1503)Gta>Tta	p.V501L		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	501						integral component of membrane (GO:0016021)		p.V501L(1)		NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CAATTTCCTGGTAGTGGTGTT	0.353																																						uc003uni.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1501-1503)GTA>TTA		CAS1 domain containing 1 precursor							188.0	162.0	171.0					7																	94174881		2203	4299	6502	SO:0001583	missense	64921					integral to membrane		g.chr7:94174881G>T	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.1501G>T	7.37:g.94174881G>T	ENSP00000297273:p.Val501Leu					CASD1_uc003unj.3_Missense_Mutation_p.V501L	p.V501L	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		12	1728	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		501			Helical; (Potential).		B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	ENST00000297273.4	37	c.1501G>T	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987450	0.93106	.	.	ENSG00000127995	ENST00000297273	T	0.44881	0.91	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.70237	0.3201	M	0.86343	2.81	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.80764	0.994;0.994	T	0.75671	-0.3237	10	0.59425	D	0.04	.	18.7033	0.91629	0.0:0.0:1.0:0.0	.	501;501	Q8WZ77;Q96PB1	.;CASD1_HUMAN	L	501	ENSP00000297273:V501L	ENSP00000297273:V501L	V	+	1	0	CASD1	94012817	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.798000	0.99111	2.489000	0.83994	0.491000	0.48974	GTA		PASS	0.353	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900		41	78	41	78	---	---	---	---
GNB2	2783	broad.mit.edu	37	7	100275765	100275765	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr7:100275765C>T	ENST00000303210.4	+	8	1024	c.542C>T	c.(541-543)gCt>gTt	p.A181V	GNB2_ENST00000393926.1_Missense_Mutation_p.A181V|GNB2_ENST00000419828.1_Missense_Mutation_p.A81V|GNB2_ENST00000424361.1_Missense_Mutation_p.A137V|GNB2_ENST00000436220.1_Missense_Mutation_p.A137V|GNB2_ENST00000427895.1_Missense_Mutation_p.A81V|GNB2_ENST00000393924.1_Missense_Mutation_p.A181V	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	181					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)	p.A181V(1)		endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				GTGGGTTTTGCTGGACACAGT	0.577																																						uc003uwb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(541-543)GCT>GTT		guanine nucleotide-binding protein, beta-2							135.0	122.0	127.0					7																	100275765		2203	4300	6503	SO:0001583	missense	2783				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr7:100275765C>T	M16514	CCDS5703.1	7q21.3-q22.1	2013-01-10			ENSG00000172354	ENSG00000172354		"""WD repeat domain containing"""	4398	protein-coding gene	gene with protein product	"""G protein, beta-2 subunit"", ""guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2"", ""signal-transducing guanine nucleotide-binding regulatory protein beta subunit"", ""transducin beta chain 2"""	139390				9799793	Standard	NM_005273		Approved		uc003uwb.3	P62879	OTTHUMG00000137419	ENST00000303210.4:c.542C>T	7.37:g.100275765C>T	ENSP00000305260:p.Ala181Val					GNB2_uc003uwc.2_Missense_Mutation_p.A137V|GNB2_uc010lhd.2_Missense_Mutation_p.A137V|GNB2_uc010lhe.2_Missense_Mutation_p.A137V|GNB2_uc003uwd.2_Missense_Mutation_p.A81V|GNB2_uc010lhf.2_Missense_Mutation_p.A81V|GNB2_uc003uwe.2_Missense_Mutation_p.A181V|GNB2_uc003uwf.2_Missense_Mutation_p.A81V	p.A181V	NM_005273	NP_005264	P62879	GBB2_HUMAN			8	815	+	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)	181					B3KPU1|P11016|P54312	Missense_Mutation	SNP	ENST00000303210.4	37	c.542C>T	CCDS5703.1	.	.	.	.	.	.	.	.	.	.	.	14.66	2.601663	0.46423	.	.	ENSG00000172354	ENST00000303210;ENST00000451587;ENST00000436220;ENST00000424361;ENST00000419828;ENST00000427895;ENST00000393926;ENST00000431068;ENST00000393924	T;T;T;T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22	4.58	4.58	0.56647	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.066900	0.64402	D	0.000008	T	0.44561	0.1299	N	0.25426	0.745	0.33918	D	0.640477	B	0.02656	0.0	B	0.10450	0.005	T	0.51593	-0.8686	10	0.26408	T	0.33	-16.2212	14.9172	0.70807	0.0:1.0:0.0:0.0	.	181	P62879	GBB2_HUMAN	V	181;181;137;137;81;81;181;181;181	ENSP00000305260:A181V;ENSP00000399904:A181V;ENSP00000401873:A137V;ENSP00000389391:A137V;ENSP00000390543:A81V;ENSP00000400286:A81V;ENSP00000377503:A181V;ENSP00000390077:A181V;ENSP00000377501:A181V	ENSP00000305260:A181V	A	+	2	0	GNB2	100113701	0.535000	0.26370	0.947000	0.38551	0.995000	0.86356	1.237000	0.32695	2.378000	0.81104	0.462000	0.41574	GCT		PASS	0.577	GNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268391.2	NM_005273		57	78	57	78	---	---	---	---
CUX1	1523	broad.mit.edu	37	7	101840185	101840185	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr7:101840185G>T	ENST00000292535.7	+	15	1532	c.1494G>T	c.(1492-1494)caG>caT	p.Q498H	CUX1_ENST00000292538.4_Intron|CUX1_ENST00000556210.1_Intron|CUX1_ENST00000425244.2_Intron|SNORA48_ENST00000517015.1_RNA|CUX1_ENST00000546411.2_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.Q498H|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.Q498H|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.Q509H	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	498					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.Q498H(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGGCTATGCAGGAAGCCGGAA	0.483																																						uc003uyx.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(1492-1494)CAG>CAT		cut-like homeobox 1 isoform a							92.0	85.0	87.0					7																	101840185		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101840185G>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.1494G>T	7.37:g.101840185G>T	ENSP00000292535:p.Gln498His					CUX1_uc003uys.3_Missense_Mutation_p.Q509H|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	p.Q498H	NM_181552	NP_853530	P39880	CUX1_HUMAN			15	1532	+			498					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.1494G>T	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215566	0.58452	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008	T;T;T;T	0.61040	0.15;0.14;0.16;0.16	5.71	5.71	0.89125	.	0.218629	0.40144	N	0.001179	T	0.51770	0.1694	L	0.36672	1.1	0.80722	D	1	B;B	0.28082	0.126;0.2	B;B	0.24155	0.023;0.051	T	0.49437	-0.8940	10	0.54805	T	0.06	-14.3306	19.855	0.96755	0.0:0.0:1.0:0.0	.	498;509	P39880;P39880-3	CUX1_HUMAN;.	H	509;498;498;498	ENSP00000353401:Q509H;ENSP00000292535:Q498H;ENSP00000446630:Q498H;ENSP00000447373:Q498H	ENSP00000292535:Q498H	Q	+	3	2	CUX1	101626905	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.522000	0.81844	2.691000	0.91804	0.561000	0.74099	CAG		PASS	0.483	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		51	58	51	58	---	---	---	---
SLC26A5	375611	broad.mit.edu	37	7	103050851	103050851	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr7:103050851C>A	ENST00000306312.3	-	7	977	c.716G>T	c.(715-717)gGa>gTa	p.G239V	SLC26A5_ENST00000432958.2_Missense_Mutation_p.G239V|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393727.1_Missense_Mutation_p.G239V|SLC26A5_ENST00000339444.6_Missense_Mutation_p.G239V|SLC26A5_ENST00000393729.1_Missense_Mutation_p.G202V|SLC26A5_ENST00000393735.2_Missense_Mutation_p.G239V|SLC26A5_ENST00000356767.4_Missense_Mutation_p.G239V|SLC26A5_ENST00000393730.1_Missense_Mutation_p.G239V|SLC26A5_ENST00000393723.1_Missense_Mutation_p.G239V	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	239					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)	p.G239V(3)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GGAAAAGATTCCACTGTACCG	0.433																																						uc003vbz.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(715-717)GGA>GTA		prestin isoform a							68.0	66.0	67.0					7																	103050851		2203	4300	6503	SO:0001583	missense	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103050851C>A	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.716G>T	7.37:g.103050851C>A	ENSP00000304783:p.Gly239Val					SLC26A5_uc003vbt.1_Missense_Mutation_p.G239V|SLC26A5_uc003vbu.1_Missense_Mutation_p.G239V|SLC26A5_uc003vbv.1_Missense_Mutation_p.G239V|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.G239V|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	p.G239V	NM_198999	NP_945350	P58743	S26A5_HUMAN			7	952	-			239			Extracellular (Potential).		Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	37	c.716G>T	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109378	0.77096	.	.	ENSG00000170615	ENST00000339444;ENST00000356767;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21;-3.21;-3.21;-3.21;-3.21;-3.21	5.72	5.72	0.89469	Sulphate transporter (1);	0.047425	0.85682	D	0.000000	D	0.96923	0.8995	M	0.89658	3.05	0.80722	D	1	D;P;D;P;P	0.63880	0.971;0.933;0.993;0.877;0.877	D;P;D;P;P	0.68192	0.956;0.876;0.954;0.628;0.628	D	0.97238	0.9889	10	0.87932	D	0	.	13.1358	0.59409	0.0:0.9268:0.0:0.0731	.	239;239;239;239;239	P58743;Q496J2;P58743-4;P58743-3;P58743-2	S26A5_HUMAN;.;.;.;.	V	239;239;239;239;239;239;202;239;239	ENSP00000342396:G239V;ENSP00000349210:G239V;ENSP00000377336:G239V;ENSP00000304783:G239V;ENSP00000377331:G239V;ENSP00000389733:G239V;ENSP00000377330:G202V;ENSP00000377328:G239V;ENSP00000377324:G239V	ENSP00000304783:G239V	G	-	2	0	SLC26A5	102838087	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	5.677000	0.68142	2.708000	0.92522	0.591000	0.81541	GGA		PASS	0.433	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		24	62	24	62	---	---	---	---
NRCAM	4897	broad.mit.edu	37	7	107820820	107820820	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr7:107820820C>T	ENST00000425651.2	-	22	2697	c.2698G>A	c.(2698-2700)Gag>Aag	p.E900K	NRCAM_ENST00000351718.4_Missense_Mutation_p.E884K|NRCAM_ENST00000379024.4_Missense_Mutation_p.E881K|NRCAM_ENST00000413765.2_Missense_Mutation_p.E881K|NRCAM_ENST00000379028.3_Missense_Mutation_p.E900K|NRCAM_ENST00000379022.4_Missense_Mutation_p.E900K	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	900	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)	p.E900K(1)|p.E884K(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ATCTTTTTCTCAATGTGACGT	0.458																																						uc003vfb.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)	5						c.(2698-2700)GAG>AAG		neuronal cell adhesion molecule isoform A							98.0	85.0	90.0					7																	107820820		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107820820C>T		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2698G>A	7.37:g.107820820C>T	ENSP00000401244:p.Glu900Lys					NRCAM_uc003vfc.2_Missense_Mutation_p.E884K|NRCAM_uc011kmk.1_Missense_Mutation_p.E895K|NRCAM_uc003vfd.2_Missense_Mutation_p.E876K|NRCAM_uc003vfe.2_Missense_Mutation_p.E876K	p.E900K	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN			25	3169	-			900			Fibronectin type-III 3.|Extracellular (Potential).		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.2698G>A	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.048693	0.36181	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022	T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39	5.66	5.66	0.87406	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.261083	0.44285	D	0.000478	T	0.63200	0.2491	L	0.55017	1.72	0.58432	D	0.999991	B;P;B;B;B	0.45212	0.104;0.853;0.004;0.017;0.153	B;P;B;B;B	0.55161	0.074;0.77;0.121;0.074;0.234	T	0.53258	-0.8464	10	0.13108	T	0.6	.	19.7503	0.96265	0.0:1.0:0.0:0.0	.	900;881;881;884;900	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	K	900;900;881;900;884;881;900;900	ENSP00000368314:E900K;ENSP00000407858:E881K;ENSP00000325269:E884K;ENSP00000368310:E881K;ENSP00000401244:E900K;ENSP00000368308:E900K	ENSP00000325269:E884K	E	-	1	0	NRCAM	107608056	0.996000	0.38824	0.999000	0.59377	0.829000	0.46940	3.990000	0.56965	2.675000	0.91044	0.557000	0.71058	GAG		PASS	0.458	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		25	52	25	52	---	---	---	---
KCND2	3751	broad.mit.edu	37	7	119914873	119914873	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr7:119914873C>A	ENST00000331113.4	+	1	1152	c.187C>A	c.(187-189)Cca>Aca	p.P63T		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	63					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.P63T(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GGAACGTTACCCAGACACTCT	0.542																																						uc003vjj.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(187-189)CCA>ACA		potassium voltage-gated channel, Shal-related							127.0	132.0	130.0					7																	119914873		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119914873C>A	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.187C>A	7.37:g.119914873C>A	ENSP00000333496:p.Pro63Thr						p.P63T	NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN			1	1152	+	all_neural(327;0.117)		63			Cytoplasmic (Potential).		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.187C>A	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156511	0.78114	.	.	ENSG00000184408	ENST00000331113	T	0.55588	0.51	5.51	5.51	0.81932	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.81475	0.4830	H	0.94847	3.59	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.86494	0.1799	9	.	.	.	.	19.427	0.94746	0.0:1.0:0.0:0.0	.	63	Q9NZV8	KCND2_HUMAN	T	63	ENSP00000333496:P63T	.	P	+	1	0	KCND2	119702109	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.818000	0.86416	2.603000	0.88011	0.655000	0.94253	CCA		PASS	0.542	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		103	163	103	163	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149476004	149476004	+	RNA	SNP	G	G	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr7:149476004G>T	ENST00000378016.2	+	0	970							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGGCCTCTGTGGGCTCTACAA	0.627																																						uc010lpk.2																			0					0						c.(970-972)GGG>TGG		SCO-spondin precursor							118.0	136.0	131.0					7																	149476004		2029	4193	6222			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149476004G>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149476004G>T						SSPO_uc010lpl.1_5'UTR	p.G324W	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		7	970	+	Melanoma(164;0.165)|Ovarian(565;0.177)		324			VWFD 1.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.970G>T																																																																																					PASS	0.627	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				12	111	12	111	---	---	---	---
DLC1	10395	broad.mit.edu	37	8	13251104	13251104	+	Silent	SNP	A	A	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr8:13251104A>C	ENST00000276297.4	-	4	1681	c.1272T>G	c.(1270-1272)tcT>tcG	p.S424S	DLC1_ENST00000511869.1_Silent_p.S424S|DLC1_ENST00000316609.5_Silent_p.S424S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	424					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.S424S(3)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CTGGAGTGGAAGATGGGAGGT	0.428																																						uc003wwm.2																			3	Substitution - coding silent(3)		lung(3)	ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(1270-1272)TCT>TCG		deleted in liver cancer 1 isoform 1							141.0	138.0	139.0					8																	13251104		2203	4300	6503	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:13251104A>C	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1272T>G	8.37:g.13251104A>C						DLC1_uc003wwn.2_Silent_p.S424S|DLC1_uc011kxy.1_Silent_p.S424S	p.S424S	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			4	1716	-			424					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.1272T>G	CCDS5989.1																																																																																				PASS	0.428	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		55	28	55	28	---	---	---	---
TOX	9760	broad.mit.edu	37	8	59720307	59720307	+	Silent	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr8:59720307C>T	ENST00000361421.1	-	9	1800	c.1580G>A	c.(1579-1581)tGa>tAa	p.*527*		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	0						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.*527*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TTCAGATTCTCAAGTAAGGTA	0.438											OREG0018787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(161;610 1969 17913 21374 22725)	uc003xtw.1																			1	Substitution - coding silent(1)		lung(1)	kidney(2)|lung(1)|skin(1)	4						c.(1579-1581)TGA>TAA		thymus high mobility group box protein TOX							128.0	117.0	121.0					8																	59720307		2203	4300	6503	SO:0001819	synonymous_variant	9760					nucleus	DNA binding	g.chr8:59720307C>T		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.1580G>A	8.37:g.59720307C>T			OREG0018787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1040		p.*527*	NM_014729	NP_055544	O94900	TOX_HUMAN			9	1801	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	527					Q96AV5	Silent	SNP	ENST00000361421.1	37	c.1580G>A	CCDS34897.1																																																																																				PASS	0.438	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		6	47	6	47	---	---	---	---
PREX2	80243	broad.mit.edu	37	8	69020434	69020434	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr8:69020434A>G	ENST00000288368.4	+	24	3083	c.2806A>G	c.(2806-2808)Acc>Gcc	p.T936A		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	936					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.T936A(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTTCTGCCCTACCAACTGCCA	0.428																																						uc003xxv.1																			1	Substitution - Missense(1)		lung(1)	skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(2806-2808)ACC>GCC		DEP domain containing 2 isoform a							112.0	98.0	103.0					8																	69020434		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69020434A>G	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2806A>G	8.37:g.69020434A>G	ENSP00000288368:p.Thr936Ala					PREX2_uc011lez.1_Missense_Mutation_p.T871A	p.T936A	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			24	2833	+			936					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.2806A>G	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.915839	0.92178	.	.	ENSG00000046889	ENST00000288368;ENST00000396539	T	0.43688	0.94	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.62417	0.2426	M	0.66939	2.045	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.65987	0.94;0.913	T	0.65450	-0.6165	10	0.72032	D	0.01	.	16.2355	0.82371	1.0:0.0:0.0:0.0	.	1001;936	Q70Z35-2;Q70Z35	.;PREX2_HUMAN	A	936;1002	ENSP00000288368:T936A	ENSP00000288368:T936A	T	+	1	0	PREX2	69182988	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.238000	0.73509	0.533000	0.62120	ACC		PASS	0.428	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		31	43	31	43	---	---	---	---
TPD52	7163	broad.mit.edu	37	8	80992640	80992640	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr8:80992640C>T	ENST00000379097.3	-	1	411	c.49G>A	c.(49-51)Gat>Aat	p.D17N	TPD52_ENST00000517427.1_Missense_Mutation_p.D17N|TPD52_ENST00000518937.1_Intron|TPD52_ENST00000379096.5_Intron|TPD52_ENST00000448733.2_Missense_Mutation_p.D17N|TPD52_ENST00000519303.2_Intron|TPD52_ENST00000520527.1_Missense_Mutation_p.D17N|TPD52_ENST00000537855.1_Missense_Mutation_p.D17N	NM_001025252.1	NP_001020423.1	P55327	TPD52_HUMAN	tumor protein D52	17					anatomical structure morphogenesis (GO:0009653)|B cell differentiation (GO:0030183)|positive regulation of cell proliferation (GO:0008284)|secretion (GO:0046903)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.D17N(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			GCATCAAAATCAAACGGGGAC	0.433																																						uc003ybr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(49-51)GAT>AAT		tumor protein D52 isoform 1							82.0	78.0	79.0					8																	80992640		2203	4300	6503	SO:0001583	missense	7163				anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr8:80992640C>T	U18914	CCDS34912.1, CCDS47879.1, CCDS55249.1, CCDS75757.1, CCDS75758.1, CCDS75759.1	8q21.13	2014-06-24			ENSG00000076554	ENSG00000076554			12005	protein-coding gene	gene with protein product		604068				7796418	Standard	NM_001287144		Approved	D52, hD52, N8L	uc003ybr.1	P55327	OTTHUMG00000164565	ENST00000379097.3:c.49G>A	8.37:g.80992640C>T	ENSP00000368391:p.Asp17Asn					TPD52_uc010lzr.2_RNA|TPD52_uc010lzs.1_Intron|TPD52_uc003ybs.1_Intron|TPD52_uc003ybt.1_Intron	p.D17N	NM_001025252	NP_001020423	P55327	TPD52_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)		1	371	-	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	17					B7Z414|C9J502|D0UFD1|D0UFD2|D0UFD3|D0UFD4|D0UFD5|E5RKB4|Q13056|Q53EK8|Q6FGP3|Q6FGS3|Q86YZ2|Q9UCX8	Missense_Mutation	SNP	ENST00000379097.3	37	c.49G>A	CCDS34912.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769132	0.49680	.	.	ENSG00000076554	ENST00000537855;ENST00000520527;ENST00000517427;ENST00000448733;ENST00000543691;ENST00000379097	T;T;T;T;T	0.29142	1.94;1.59;1.58;1.65;1.61	5.38	5.38	0.77491	.	4.861330	0.00691	N	0.000733	T	0.23611	0.0571	N	0.12746	0.255	0.29089	N	0.882206	B	0.21606	0.058	B	0.22152	0.038	T	0.08472	-1.0720	10	0.35671	T	0.21	-16.1453	9.8338	0.40958	0.0:0.8502:0.0:0.1498	.	17	P55327	TPD52_HUMAN	N	17	ENSP00000438113:D17N;ENSP00000429309:D17N;ENSP00000429351:D17N;ENSP00000410222:D17N;ENSP00000368391:D17N	ENSP00000368391:D17N	D	-	1	0	TPD52	81155195	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.700000	0.37815	2.809000	0.96659	0.579000	0.79373	GAT		PASS	0.433	TPD52-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379539.2	NM_005079		27	48	27	48	---	---	---	---
RSPO2	340419	broad.mit.edu	37	8	108913390	108913390	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr8:108913390C>G	ENST00000276659.5	-	6	1265	c.645G>C	c.(643-645)aaG>aaC	p.K215N	RSPO2_ENST00000517939.1_Missense_Mutation_p.K148N|RSPO2_ENST00000378439.2_Missense_Mutation_p.K151N|RSPO2_ENST00000517781.1_Missense_Mutation_p.K151N	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	215					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.K215N(1)	EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			tcttgttcctcttctccttcg	0.418																																						uc003yms.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|pancreas(1)|lung(1)	7						c.(643-645)AAG>AAC		R-spondin family, member 2 precursor							95.0	87.0	90.0					8																	108913390		2203	4300	6503	SO:0001583	missense	340419				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr8:108913390C>G	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.645G>C	8.37:g.108913390C>G	ENSP00000276659:p.Lys215Asn					RSPO2_uc003ymq.2_Missense_Mutation_p.K148N|RSPO2_uc003ymr.2_Missense_Mutation_p.K151N	p.K215N	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)		6	1303	-			215					B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	c.645G>C	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075789	0.36662	.	.	ENSG00000147655	ENST00000517939;ENST00000517781;ENST00000378439;ENST00000276659;ENST00000521502	D;D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05;-3.05	5.95	5.03	0.67393	.	0.053981	0.64402	D	0.000001	D	0.85265	0.5657	N	0.08118	0	0.42809	D	0.99395	B;P	0.47762	0.447;0.9	B;P	0.46850	0.21;0.529	D	0.85018	0.0910	10	0.33141	T	0.24	4.0E-4	11.8898	0.52622	0.0:0.8498:0.0:0.1502	.	215;151	Q6UXX9;Q6UXX9-3	RSPO2_HUMAN;.	N	148;151;151;215;148	ENSP00000428940:K148N;ENSP00000427937:K151N;ENSP00000367698:K151N;ENSP00000276659:K215N;ENSP00000428614:K148N	ENSP00000276659:K215N	K	-	3	2	RSPO2	108982566	1.000000	0.71417	0.999000	0.59377	0.879000	0.50718	0.743000	0.26231	1.418000	0.47098	0.650000	0.86243	AAG		PASS	0.418	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		16	47	16	47	---	---	---	---
TRHR	7201	broad.mit.edu	37	8	110100362	110100362	+	Silent	SNP	T	T	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr8:110100362T>A	ENST00000518632.1	+	2	972	c.621T>A	c.(619-621)gcT>gcA	p.A207A	TRHR_ENST00000311762.2_Silent_p.A207A			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	207					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)	p.A207A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TGATCCTGGCTACCGTCCTCT	0.388																																						uc003ymz.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)|lung(1)	3						c.(619-621)GCT>GCA		thyrotropin-releasing hormone receptor							114.0	107.0	109.0					8																	110100362		2203	4300	6503	SO:0001819	synonymous_variant	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110100362T>A		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.621T>A	8.37:g.110100362T>A							p.A207A	NM_003301	NP_003292	P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		1	637	+			207			Helical; Name=5; (Potential).		Q2M339	Silent	SNP	ENST00000518632.1	37	c.621T>A	CCDS6311.1																																																																																				PASS	0.388	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			37	62	37	62	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110406702	110406702	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr8:110406702C>T	ENST00000378402.5	+	10	903	c.799C>T	c.(799-801)Caa>Taa	p.Q267*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	267					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.Q269*(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGCAATGTTTCAAACATATGC	0.328										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(799-801)CAA>TAA		fibrocystin L precursor							51.0	46.0	47.0					8																	110406702		1797	4040	5837	SO:0001587	stop_gained	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110406702C>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.799C>T	8.37:g.110406702C>T	ENSP00000367655:p.Gln267*	HNSCC(38;0.096)					p.Q267*	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		10	903	+			267			Extracellular (Potential).		Q567P2|Q9UF27	Nonsense_Mutation	SNP	ENST00000378402.5	37	c.799C>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	38	6.818966	0.97861	.	.	ENSG00000205038	ENST00000378402	.	.	.	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.1162	0.86689	0.0:1.0:0.0:0.0	.	.	.	.	X	267	.	ENSP00000367655:Q267X	Q	+	1	0	PKHD1L1	110475878	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.451000	0.66632	2.630000	0.89119	0.655000	0.94253	CAA		PASS	0.328	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		3	6	3	6	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113694723	113694723	+	Nonsense_Mutation	SNP	A	A	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr8:113694723A>T	ENST00000297405.5	-	16	2869	c.2625T>A	c.(2623-2625)tgT>tgA	p.C875*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.C875*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.C835*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.C771*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	875	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C875*(1)|p.C835*(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCATAAGAATACATGTAATTG	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(2623-2625)TGT>TGA		CUB and Sushi multiple domains 3 isoform 1							146.0	141.0	143.0					8																	113694723		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113694723A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2625T>A	8.37:g.113694723A>T	ENSP00000297405:p.Cys875*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Nonsense_Mutation_p.C147*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.C835*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.C771*	p.C875*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			16	2784	-			875			Sushi 4.|Extracellular (Potential).		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.2625T>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	43	9.829264	0.99273	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.68	-0.459	0.12179	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2412	0.54544	0.5203:0.0:0.4797:0.0	.	.	.	.	X	835;875;215;771;875	.	ENSP00000297405:C875X	C	-	3	2	CSMD3	113763899	0.996000	0.38824	0.996000	0.52242	0.997000	0.91878	0.639000	0.24690	0.014000	0.14944	0.528000	0.53228	TGT		PASS	0.368	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		56	91	56	91	---	---	---	---
ADCY8	114	broad.mit.edu	37	8	131795975	131795975	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr8:131795975A>G	ENST00000286355.5	-	17	5322	c.3230T>C	c.(3229-3231)aTc>aCc	p.I1077T	ADCY8_ENST00000377928.3_Missense_Mutation_p.I946T	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1077					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.I1077T(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATGCTTGTTGATCTCCTGTAT	0.498										HNSCC(32;0.087)																												uc003ytd.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(3229-3231)ATC>ACC		adenylate cyclase 8							163.0	148.0	153.0					8																	131795975		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131795975A>G	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3230T>C	8.37:g.131795975A>G	ENSP00000286355:p.Ile1077Thr	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.I946T	p.I1077T	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		17	3486	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		1077			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.3230T>C	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.799585	0.90538	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.31510	1.49;1.49	5.4	5.4	0.78164	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.56352	0.1979	M	0.76574	2.34	0.45567	D	0.998512	D;D	0.89917	0.998;1.0	D;D	0.91635	0.99;0.999	T	0.61123	-0.7126	10	0.87932	D	0	.	14.9118	0.70764	1.0:0.0:0.0:0.0	.	946;1077	E7EVL1;P40145	.;ADCY8_HUMAN	T	1077;946	ENSP00000286355:I1077T;ENSP00000367161:I946T	ENSP00000286355:I1077T	I	-	2	0	ADCY8	131865157	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.283000	0.95860	2.165000	0.68154	0.533000	0.62120	ATC		PASS	0.498	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			24	38	24	38	---	---	---	---
CYP11B1	1584	broad.mit.edu	37	8	143955898	143955898	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr8:143955898A>T	ENST00000292427.4	-	9	1435	c.1403T>A	c.(1402-1404)cTg>cAg	p.L468Q	CYP11B1_ENST00000377675.3_Missense_Mutation_p.L539Q|CYP11B1_ENST00000517471.1_Missense_Mutation_p.L402Q	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	468					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.L468Q(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GAGGTGTTTCAGCACCTAGGA	0.537									Familial Hyperaldosteronism type I		OREG0005640	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CYP11B1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										uc003yxi.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1402-1404)CTG>CAG		cytochrome P450, family 11, subfamily B,	Mitotane(DB00648)						143.0	120.0	128.0					8																	143955898		2203	4300	6503	SO:0001583	missense	1584	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143955898A>T	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1403T>A	8.37:g.143955898A>T	ENSP00000292427:p.Leu468Gln		OREG0005640	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CYP11B1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1683	CYP11B1_uc010mex.2_Missense_Mutation_p.L167Q|CYP11B1_uc003yxh.2_Missense_Mutation_p.L118Q|CYP11B1_uc003yxj.2_Missense_Mutation_p.L402Q|CYP11B1_uc010mey.2_Missense_Mutation_p.L539Q	p.L468Q	NM_000497	NP_000488	P15538	C11B1_HUMAN			9	1410	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		468					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.1403T>A	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	17.90	3.502902	0.64298	.	.	ENSG00000160882	ENST00000519285;ENST00000292427;ENST00000517471;ENST00000377675	D;D;D;D	0.84660	-1.6;-1.6;-1.88;-1.6	4.01	4.01	0.46588	.	0.000000	0.37809	N	0.001923	D	0.93906	0.8050	H	0.95574	3.69	0.48696	D	0.999697	D;D;D;D;D	0.89917	1.0;1.0;0.996;1.0;0.998	D;D;D;D;D	0.91635	0.999;0.997;0.97;0.995;0.992	D	0.94734	0.7912	10	0.87932	D	0	.	11.1424	0.48411	1.0:0.0:0.0:0.0	.	539;468;402;468;118	Q4VAR0;Q8TDD0;Q4VAQ9;P15538;Q8N9P8	.;.;.;C11B1_HUMAN;.	Q	146;468;402;539	ENSP00000430144:L146Q;ENSP00000292427:L468Q;ENSP00000428043:L402Q;ENSP00000366903:L539Q	ENSP00000292427:L468Q	L	-	2	0	CYP11B1	143952900	1.000000	0.71417	0.998000	0.56505	0.620000	0.37586	5.538000	0.67193	1.586000	0.49944	0.533000	0.62120	CTG		PASS	0.537	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			23	57	23	57	---	---	---	---
DGAT1	8694	broad.mit.edu	37	8	145541059	145541059	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr8:145541059G>T	ENST00000332324.4	-	13	1304	c.1031C>A	c.(1030-1032)tCc>tAc	p.S344Y	DGAT1_ENST00000527438.1_5'Flank|GS1-393G12.12_ENST00000525023.1_RNA	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	344					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)	p.S344Y(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			ATTCAGGCAGGAGTGGAAGAG	0.607																																						uc003zbv.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1030-1032)TCC>TAC		diacylglycerol O-acyltransferase 1							107.0	122.0	117.0					8																	145541059		2203	4296	6499	SO:0001583	missense	8694				triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity	g.chr8:145541059G>T	AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"""diacylglycerol O-acyltransferase homolog 1 (mouse)"""			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.1031C>A	8.37:g.145541059G>T	ENSP00000332258:p.Ser344Tyr					DGAT1_uc010mfv.2_Intron	p.S344Y	NM_012079	NP_036211	O75907	DGAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		13	1299	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		344			Lumenal (Potential).		B2RWQ2|D3DWL6|Q96BB8	Missense_Mutation	SNP	ENST00000332324.4	37	c.1031C>A	CCDS6420.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627648	0.87560	.	.	ENSG00000185000	ENST00000332324	T	0.73575	-0.76	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.82917	0.5141	L	0.49126	1.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84553	0.0645	10	0.72032	D	0.01	-9.4833	16.0677	0.80897	0.0:0.0:1.0:0.0	.	344	O75907	DGAT1_HUMAN	Y	344	ENSP00000332258:S344Y	ENSP00000332258:S344Y	S	-	2	0	DGAT1	145511867	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.323000	0.79105	2.387000	0.81309	0.555000	0.69702	TCC		PASS	0.607	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382059.3	NM_012079		17	84	17	84	---	---	---	---
RIC1	57589	broad.mit.edu	37	9	5765672	5765672	+	Nonsense_Mutation	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr9:5765672C>G	ENST00000414202.2	+	21	3202	c.3011C>G	c.(3010-3012)tCa>tGa	p.S1004*	KIAA1432_ENST00000449720.2_Nonsense_Mutation_p.S888*|KIAA1432_ENST00000251879.6_Nonsense_Mutation_p.S1004*|KIAA1432_ENST00000381532.2_Nonsense_Mutation_p.S925*|KIAA1432_ENST00000418622.3_Nonsense_Mutation_p.S925*	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2												p.S925*(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)		GAACCCAGTTCAAGTGGTGGA	0.413																																						uc003zji.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(2773-2775)TCA>TGA		connexin 43-interacting protein 150 isoform a							272.0	265.0	267.0					9																	5765672		2203	4300	6503	SO:0001587	stop_gained	57589					integral to membrane		g.chr9:5765672C>G																												ENST00000414202.2:c.3011C>G	9.37:g.5765672C>G	ENSP00000416696:p.Ser1004*					KIAA1432_uc003zjh.2_Nonsense_Mutation_p.S925*|KIAA1432_uc003zjl.3_Nonsense_Mutation_p.S888*|KIAA1432_uc003zjj.1_Nonsense_Mutation_p.S467*|ERMP1_uc011lme.1_RNA	p.S925*	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	20	2867	+		Acute lymphoblastic leukemia(23;0.154)	1004						Nonsense_Mutation	SNP	ENST00000414202.2	37	c.2774C>G	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.454763|8.454763	0.98817|0.98817	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000545641|ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	.|.	.|.	.|.	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	.|0.121854	.|0.64402	.|D	.|0.000019	T|.	0.63010|.	0.2475|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.52275|.	-0.8597|.	4|.	.|0.10377	.|T	.|0.69	-5.5478|-5.5478	20.5948|20.5948	0.99439|0.99439	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	895|1004;1004;925;925;888	.|.	.|ENSP00000251879:S1004X	F|S	+|+	3|2	2|0	KIAA1432|KIAA1432	5755672|5755672	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.487000|7.487000	0.81328|0.81328	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	TTC|TCA		PASS	0.413	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			161	78	161	78	---	---	---	---
IFNA8	3445	broad.mit.edu	37	9	21409512	21409512	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr9:21409512G>C	ENST00000380205.1	+	1	367	c.337G>C	c.(337-339)Gac>Cac	p.D113H		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	113					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)	p.D113H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		CATCGAACTTGACCAGCAGCT	0.502																																						uc003zpc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(337-339)GAC>CAC		interferon, alpha 8 precursor							109.0	106.0	107.0					9																	21409512		2203	4300	6503	SO:0001583	missense	3445				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21409512G>C		CCDS6507.1	9p22	2010-08-24			ENSG00000120242	ENSG00000120242		"""Interferons"""	5429	protein-coding gene	gene with protein product	"""interferon alpha-B''"", ""interferon alpha type 201"""	147568				1385305	Standard	NM_002170		Approved	IFN-alphaB	uc003zpc.1	P32881	OTTHUMG00000019677	ENST00000380205.1:c.337G>C	9.37:g.21409512G>C	ENSP00000369553:p.Asp113His						p.D113H	NM_002170	NP_002161	P32881	IFNA8_HUMAN		Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)	1	367	+			113					P01565|P09236|Q5VWV7|Q5VYQ3	Missense_Mutation	SNP	ENST00000380205.1	37	c.337G>C	CCDS6507.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.842279	0.00573	.	.	ENSG00000120242	ENST00000380205	T	0.03004	4.08	3.48	-6.95	0.01628	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.152180	0.06328	N	0.705591	T	0.01765	0.0056	N	0.16066	0.365	0.09310	N	1	B	0.10296	0.003	B	0.18871	0.023	T	0.48139	-0.9061	10	0.10111	T	0.7	.	3.8847	0.09093	0.1113:0.2765:0.4605:0.1517	.	113	P32881	IFNA8_HUMAN	H	113	ENSP00000369553:D113H	ENSP00000369553:D113H	D	+	1	0	IFNA8	21399512	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-5.223000	0.00140	-1.344000	0.02216	-0.714000	0.03626	GAC		PASS	0.502	IFNA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051906.1	NM_002170		32	62	32	62	---	---	---	---
CBWD6	644019	broad.mit.edu	37	9	69238300	69238300	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr9:69238300C>G	ENST00000377457.5	-	8	697	c.592G>C	c.(592-594)Gat>Cat	p.D198H	CBWD6_ENST00000377449.1_Missense_Mutation_p.D162H|CBWD6_ENST00000382399.4_Missense_Mutation_p.D178H	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	198							ATP binding (GO:0005524)	p.D198H(1)		lung(4)	4						AGAATGATATCTGCCAAAGCA	0.303																																						uc004afj.3																			1	Substitution - Missense(1)		lung(1)		0						c.(592-594)GAT>CAT		COBW domain containing 6							94.0	134.0	119.0					9																	69238300		1332	2284	3616	SO:0001583	missense	644019						ATP binding	g.chr9:69238300C>G		CCDS43827.1	9q13	2006-06-30			ENSG00000204790	ENSG00000204790			31978	protein-coding gene	gene with protein product							Standard	NM_001085457		Approved	OTTHUMG00000066820	uc004afj.4	Q4V339	OTTHUMG00000066820	ENST00000377457.5:c.592G>C	9.37:g.69238300C>G	ENSP00000366677:p.Asp198His					CBWD6_uc004afk.3_Intron|CBWD6_uc011lrf.1_Intron	p.D198H	NM_001085457	NP_001078926	Q4V339	CBWD6_HUMAN			8	698	-			198						Missense_Mutation	SNP	ENST00000377457.5	37	c.592G>C	CCDS43827.1	.	.	.	.	.	.	.	.	.	.	.	12.86	2.065428	0.36470	.	.	ENSG00000204790	ENST00000377457;ENST00000377449;ENST00000382399;ENST00000377445	T;T;T	0.57752	0.38;0.38;0.38	2.49	2.49	0.30216	Cobalamin (vitamin B12) biosynthesis CobW-like (1);	0.000000	0.85682	D	0.000000	T	0.76321	0.3971	M	0.93420	3.415	0.52501	D	0.999952	D	0.89917	1.0	D	0.97110	1.0	T	0.81426	-0.0938	10	0.87932	D	0	-2.2262	10.7298	0.46089	0.0:1.0:0.0:0.0	.	198	Q4V339	CBWD6_HUMAN	H	198;162;178;198	ENSP00000366677:D198H;ENSP00000366668:D162H;ENSP00000371836:D178H	ENSP00000366664:D198H	D	-	1	0	CBWD6	68528120	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	5.488000	0.66869	1.400000	0.46741	0.184000	0.17185	GAT		PASS	0.303	CBWD6-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143172.2	XM_928822		12	192	12	192	---	---	---	---
BICD2	23299	broad.mit.edu	37	9	95491487	95491487	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr9:95491487T>A	ENST00000375512.3	-	2	339	c.272A>T	c.(271-273)aAg>aTg	p.K91M	BICD2_ENST00000356884.6_Missense_Mutation_p.K91M	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	91					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)	p.K91M(1)		cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						AGCAGCCACCTTCTTGTGGTT	0.602																																						uc004aso.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(271-273)AAG>ATG		bicaudal D homolog 2 isoform 2							77.0	69.0	72.0					9																	95491487		2203	4300	6503	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95491487T>A	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.272A>T	9.37:g.95491487T>A	ENSP00000364662:p.Lys91Met					BICD2_uc004asp.1_Missense_Mutation_p.K91M	p.K91M	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN			2	329	-			91			Potential.		O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.272A>T	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.130918	0.77549	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.53423	0.62;0.62	5.27	4.13	0.48395	.	0.055707	0.64402	D	0.000001	T	0.63522	0.2518	M	0.76328	2.33	0.43007	D	0.994534	D;D	0.76494	0.999;0.996	D;D	0.68943	0.947;0.961	T	0.67264	-0.5714	10	0.72032	D	0.01	-51.5984	8.8403	0.35137	0.0:0.0885:0.0:0.9115	.	91;91	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	M	91	ENSP00000349351:K91M;ENSP00000364662:K91M	ENSP00000349351:K91M	K	-	2	0	BICD2	94531308	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.063000	0.57499	2.126000	0.65437	0.533000	0.62120	AAG		PASS	0.602	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		14	57	14	57	---	---	---	---
COL15A1	1306	broad.mit.edu	37	9	101748070	101748070	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr9:101748070C>A	ENST00000375001.3	+	3	747	c.324C>A	c.(322-324)ttC>ttA	p.F108L		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	108	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.F108L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GCGTGCTCTTCGCCATCACTG	0.627																																						uc004azb.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(322-324)TTC>TTA		alpha 1 type XV collagen precursor							72.0	67.0	69.0					9																	101748070		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101748070C>A	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.324C>A	9.37:g.101748070C>A	ENSP00000364140:p.Phe108Leu					COL15A1_uc004aza.2_Missense_Mutation_p.F108L	p.F108L	NM_001855	NP_001846	P39059	COFA1_HUMAN			3	530	+		Acute lymphoblastic leukemia(62;0.0562)	108			TSP N-terminal.		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.324C>A	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702005	0.30232	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	T	0.02158	4.42	5.25	-3.1	0.05315	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.08268	0.0206	M	0.77313	2.365	0.40695	D	0.982439	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.05733	-1.0867	10	0.22706	T	0.39	-11.1992	11.0524	0.47898	0.0:0.3866:0.0:0.6134	.	108;78	P39059;B3KTP7	COFA1_HUMAN;.	L	108;78	ENSP00000364140:F108L	ENSP00000364140:F108L	F	+	3	2	COL15A1	100787891	0.982000	0.34865	0.944000	0.38274	0.179000	0.23085	0.170000	0.16663	-0.449000	0.07117	-2.218000	0.00297	TTC		PASS	0.627	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		4	80	4	80	---	---	---	---
RNF20	56254	broad.mit.edu	37	9	104309471	104309471	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr9:104309471G>A	ENST00000389120.3	+	8	1037	c.947G>A	c.(946-948)gGc>gAc	p.G316D	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	316					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G316D(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		CTGTATGGCGGCACAATCACT	0.428																																						uc004bbn.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8						c.(946-948)GGC>GAC		ring finger protein 20							142.0	132.0	135.0					9																	104309471		2203	4300	6503	SO:0001583	missense	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104309471G>A	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.947G>A	9.37:g.104309471G>A	ENSP00000373772:p.Gly316Asp						p.G316D	NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	8	1037	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	316			Potential.		A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.947G>A	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440748	0.63067	.	.	ENSG00000155827	ENST00000389120	T	0.34667	1.35	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.60650	0.2285	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52268	-0.8598	10	0.15499	T	0.54	-13.9033	19.7502	0.96265	0.0:0.0:1.0:0.0	.	316	Q5VTR2	BRE1A_HUMAN	D	316	ENSP00000373772:G316D	ENSP00000373772:G316D	G	+	2	0	RNF20	103349292	1.000000	0.71417	0.999000	0.59377	0.647000	0.38526	9.439000	0.97543	2.760000	0.94817	0.655000	0.94253	GGC		PASS	0.428	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		5	119	5	119	---	---	---	---
OR13C4	138804	broad.mit.edu	37	9	107289089	107289089	+	Silent	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr9:107289089G>A	ENST00000277216.3	-	1	401	c.402C>T	c.(400-402)atC>atT	p.I134I		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I134I(1)		breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TGTTCATGATGATGGGGTATC	0.453																																						uc011lvn.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(400-402)ATC>ATT		olfactory receptor, family 13, subfamily C,							150.0	127.0	135.0					9																	107289089		2203	4300	6503	SO:0001819	synonymous_variant	138804				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107289089G>A		CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"""GPCR / Class A : Olfactory receptors"""	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.402C>T	9.37:g.107289089G>A							p.I134I	NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN			1	402	-			134			Cytoplasmic (Potential).		Q6IF51|Q96R41	Silent	SNP	ENST00000277216.3	37	c.402C>T	CCDS35088.1																																																																																				PASS	0.453	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1			27	128	27	128	---	---	---	---
SLC44A1	23446	broad.mit.edu	37	9	108145413	108145413	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr9:108145413G>T	ENST00000374720.3	+	14	1889	c.1642G>T	c.(1642-1644)Gtc>Ttc	p.V548F	SLC44A1_ENST00000374723.1_Missense_Mutation_p.V548F|SLC44A1_ENST00000343170.7_Missense_Mutation_p.V340F|SLC44A1_ENST00000374724.1_Missense_Mutation_p.V548F	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	548					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)	p.V548F(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GGTGCTGATAGTCTGCAGCAC	0.423																																						uc004bcn.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)	4						c.(1642-1644)GTC>TTC		CDW92 antigen	Choline(DB00122)						171.0	155.0	160.0					9																	108145413		2203	4300	6503	SO:0001583	missense	23446					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	g.chr9:108145413G>T	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.1642G>T	9.37:g.108145413G>T	ENSP00000363852:p.Val548Phe					SLC44A1_uc010mtk.1_Missense_Mutation_p.V548F|SLC44A1_uc004bco.1_Missense_Mutation_p.V340F	p.V548F	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN			14	1863	+			548			Helical; (Potential).		A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	ENST00000374720.3	37	c.1642G>T	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392878	0.83011	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724;ENST00000343170	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	5.36	5.36	0.76844	.	0.054830	0.64402	D	0.000001	T	0.60405	0.2266	M	0.89214	3.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.997;0.999	T	0.67440	-0.5670	10	0.72032	D	0.01	-15.8562	19.4568	0.94895	0.0:0.0:1.0:0.0	.	548;548;548	Q8WWI5-3;Q8WWI5-2;Q8WWI5	.;.;CTL1_HUMAN	F	548;548;548;340	ENSP00000363855:V548F;ENSP00000363852:V548F;ENSP00000363856:V548F;ENSP00000341856:V340F	ENSP00000341856:V340F	V	+	1	0	SLC44A1	107185234	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.440000	0.80464	2.673000	0.90976	0.650000	0.86243	GTC		PASS	0.423	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546		44	154	44	154	---	---	---	---
RXRA	6256	broad.mit.edu	37	9	137300036	137300036	+	Silent	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr9:137300036C>T	ENST00000481739.1	+	3	373	c.321C>T	c.(319-321)atC>atT	p.I107I	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000540193.1_Silent_p.I10I	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	107	Modulating. {ECO:0000250}.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)	p.I107I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	GCGAGGACATCAAGCCCCCCC	0.637																																						uc004cfb.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(319-321)ATC>ATT		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						60.0	47.0	52.0					9																	137300036		2203	4299	6502	SO:0001819	synonymous_variant	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137300036C>T	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.321C>T	9.37:g.137300036C>T						RXRA_uc004cfc.1_Silent_p.I10I	p.I107I	NM_002957	NP_002948	P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	3	483	+			107			Modulating (By similarity).		B3KY83|Q2NL52|Q2V504	Silent	SNP	ENST00000481739.1	37	c.321C>T	CCDS35172.1																																																																																				PASS	0.637	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957		11	22	11	22	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139390779	139390779	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr9:139390779G>T	ENST00000277541.6	-	34	7487	c.7412C>A	c.(7411-7413)tCg>tAg	p.S2471*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2471					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S2472*(2)|p.L2473fs*1(1)|p.S2471fs*1(1)|p.S2471*(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGGGACCAGCGAGGATGGCAG	0.697			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2				Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		5	Substitution - Nonsense(3)|Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.L2473fs*1(1)	haematopoietic_and_lymphoid_tissue(3)|lung(2)	haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(7411-7413)TCG>TAG		notch1 preproprotein							12.0	15.0	14.0					9																	139390779		2123	4209	6332	SO:0001587	stop_gained	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139390779G>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.7412C>A	9.37:g.139390779G>T	ENSP00000277541:p.Ser2471*	HNSCC(8;0.001)					p.S2471*	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	34	7412	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	2471			Cytoplasmic (Potential).		Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	ENST00000277541.6	37	c.7412C>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	44	11.230662	0.99534	.	.	ENSG00000148400	ENST00000277541	.	.	.	5.11	5.11	0.69529	.	0.288945	0.33631	N	0.004716	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	17.884	0.88849	0.0:0.0:1.0:0.0	.	.	.	.	X	2471	.	ENSP00000277541:S2471X	S	-	2	0	NOTCH1	138510600	0.998000	0.40836	0.016000	0.15963	0.081000	0.17604	6.967000	0.76079	2.535000	0.85469	0.563000	0.77884	TCG		PASS	0.697	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		3	6	3	6	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139390786	139390786	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr9:139390786G>A	ENST00000277541.6	-	34	7480	c.7405C>T	c.(7405-7407)Cca>Tca	p.P2469S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2469					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P2469S(1)|p.P2470S(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGCGAGGATGGCAGCGACGTG	0.697			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2				Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		2	Substitution - Missense(2)	p.L2469fs*10(2)|p.L2469fs*11(1)	lung(2)	haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(7405-7407)CCA>TCA		notch1 preproprotein							12.0	15.0	14.0					9																	139390786		2128	4210	6338	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139390786G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.7405C>T	9.37:g.139390786G>A	ENSP00000277541:p.Pro2469Ser	HNSCC(8;0.001)					p.P2469S	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	34	7405	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	2469			Cytoplasmic (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.7405C>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.453213	0.26161	.	.	ENSG00000148400	ENST00000277541	D	0.83163	-1.69	4.61	3.71	0.42584	.	0.059514	0.64402	D	0.000002	T	0.78991	0.4371	N	0.19112	0.55	0.52501	D	0.999957	D	0.59357	0.985	P	0.54590	0.756	T	0.76293	-0.3012	10	0.30854	T	0.27	.	11.9896	0.53168	0.0855:0.0:0.9145:0.0	.	2469	P46531	NOTC1_HUMAN	S	2469	ENSP00000277541:P2469S	ENSP00000277541:P2469S	P	-	1	0	NOTCH1	138510607	1.000000	0.71417	0.671000	0.29857	0.089000	0.18198	4.570000	0.60872	1.073000	0.40885	0.563000	0.77884	CCA		PASS	0.697	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		3	7	3	7	---	---	---	---
NRARP	441478	broad.mit.edu	37	9	140196134	140196134	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr9:140196134C>T	ENST00000356628.2	-	1	569	c.247G>A	c.(247-249)Gac>Aac	p.D83N		NM_001004354.2	NP_001004354.1	Q7Z6K4	NRARP_HUMAN	NOTCH-regulated ankyrin repeat protein	83					blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of Notch signaling pathway involved in somitogenesis (GO:1902367)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|patterning of blood vessels (GO:0001569)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of endothelial cell proliferation (GO:0001938)|regulation of cell-cell adhesion (GO:0022407)|somite rostral/caudal axis specification (GO:0032525)			p.D83N(1)		lung(3)	3	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.185)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000273)		CTCCAGCCGTCGCGGTTGGCC	0.672																																						uc004cmo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(247-249)GAC>AAC		NOTCH-regulated ankyrin repeat protein							26.0	23.0	24.0					9																	140196134		2197	4291	6488	SO:0001583	missense	441478				negative regulation of Notch signaling pathway|positive regulation of canonical Wnt receptor signaling pathway			g.chr9:140196134C>T		CCDS35188.1	9q34.3	2013-01-10			ENSG00000198435	ENSG00000198435		"""Ankyrin repeat domain containing"""	33843	protein-coding gene	gene with protein product							Standard	NM_001004354		Approved	MGC61598	uc004cmo.2	Q7Z6K4	OTTHUMG00000156150	ENST00000356628.2:c.247G>A	9.37:g.140196134C>T	ENSP00000349041:p.Asp83Asn					C9orf167_uc011mew.1_Intron	p.D83N	NM_001004354	NP_001004354	Q7Z6K4	NRARP_HUMAN	STAD - Stomach adenocarcinoma(284;0.185)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000273)	1	570	-	all_cancers(76;0.0926)		83			ANK 2.		B8A4K5	Missense_Mutation	SNP	ENST00000356628.2	37	c.247G>A	CCDS35188.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964037	0.74131	.	.	ENSG00000198435	ENST00000356628	T	0.63255	-0.03	3.88	2.98	0.34508	Ankyrin repeat-containing domain (4);	0.061993	0.64402	U	0.000007	T	0.36138	0.0956	N	0.05441	-0.05	0.38461	D	0.947203	B	0.31290	0.318	B	0.25759	0.063	T	0.25222	-1.0138	10	0.34782	T	0.22	.	9.2286	0.37423	0.0:0.8899:0.0:0.1101	.	83	Q7Z6K4	NRARP_HUMAN	N	83	ENSP00000349041:D83N	ENSP00000349041:D83N	D	-	1	0	NRARP	139315955	1.000000	0.71417	0.672000	0.29872	0.040000	0.13550	3.103000	0.50298	0.860000	0.35481	0.536000	0.68110	GAC		PASS	0.672	NRARP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343196.1	NM_001004354		11	16	11	16	---	---	---	---
NRARP	441478	broad.mit.edu	37	9	140196233	140196233	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr9:140196233C>A	ENST00000356628.2	-	1	470	c.148G>T	c.(148-150)Gag>Tag	p.E50*		NM_001004354.2	NP_001004354.1	Q7Z6K4	NRARP_HUMAN	NOTCH-regulated ankyrin repeat protein	50					blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of Notch signaling pathway involved in somitogenesis (GO:1902367)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|patterning of blood vessels (GO:0001569)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of endothelial cell proliferation (GO:0001938)|regulation of cell-cell adhesion (GO:0022407)|somite rostral/caudal axis specification (GO:0032525)			p.E50*(1)		lung(3)	3	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.185)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000273)		GTCTGGCCCTCGGGCCCGAAC	0.637																																						uc004cmo.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(148-150)GAG>TAG		NOTCH-regulated ankyrin repeat protein							49.0	38.0	42.0					9																	140196233		2202	4298	6500	SO:0001587	stop_gained	441478				negative regulation of Notch signaling pathway|positive regulation of canonical Wnt receptor signaling pathway			g.chr9:140196233C>A		CCDS35188.1	9q34.3	2013-01-10			ENSG00000198435	ENSG00000198435		"""Ankyrin repeat domain containing"""	33843	protein-coding gene	gene with protein product							Standard	NM_001004354		Approved	MGC61598	uc004cmo.2	Q7Z6K4	OTTHUMG00000156150	ENST00000356628.2:c.148G>T	9.37:g.140196233C>A	ENSP00000349041:p.Glu50*					C9orf167_uc011mew.1_Intron	p.E50*	NM_001004354	NP_001004354	Q7Z6K4	NRARP_HUMAN	STAD - Stomach adenocarcinoma(284;0.185)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000273)	1	471	-	all_cancers(76;0.0926)		50			ANK 1.		B8A4K5	Nonsense_Mutation	SNP	ENST00000356628.2	37	c.148G>T	CCDS35188.1	.	.	.	.	.	.	.	.	.	.	C	39	7.570790	0.98365	.	.	ENSG00000198435	ENST00000356628	.	.	.	3.3	3.3	0.37823	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	12.1536	0.54064	0.0:1.0:0.0:0.0	.	.	.	.	X	50	.	ENSP00000349041:E50X	E	-	1	0	NRARP	139316054	1.000000	0.71417	0.998000	0.56505	0.751000	0.42716	5.902000	0.69869	1.699000	0.51192	0.435000	0.28638	GAG		PASS	0.637	NRARP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343196.1	NM_001004354		17	39	17	39	---	---	---	---
GAD2	2572	broad.mit.edu	37	10	26508134	26508134	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr10:26508134C>A	ENST00000376261.3	+	4	952	c.449C>A	c.(448-450)gCa>gAa	p.A150E	GAD2_ENST00000259271.3_Missense_Mutation_p.A150E|GAD2_ENST00000376248.1_Missense_Mutation_p.A36E	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	150					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.A150E(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TGGGAATTGGCAGACCAACCA	0.328																																						uc001isp.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(448-450)GCA>GAA		glutamate decarboxylase 2	L-Glutamic Acid(DB00142)						87.0	94.0	92.0					10																	26508134		2203	4300	6503	SO:0001583	missense	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26508134C>A	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.449C>A	10.37:g.26508134C>A	ENSP00000365437:p.Ala150Glu					GAD2_uc009xkr.2_Missense_Mutation_p.A150E|GAD2_uc001isq.2_Missense_Mutation_p.A150E	p.A150E	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN			4	952	+			150					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.449C>A	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	C	9.791	1.177954	0.21787	.	.	ENSG00000136750	ENST00000376261;ENST00000259271;ENST00000428517;ENST00000376248	T;T;T;T	0.60040	1.1;1.1;0.22;1.1	5.61	5.61	0.85477	Pyridoxal phosphate-dependent transferase, major domain (1);	0.181808	0.49916	D	0.000136	T	0.35307	0.0927	N	0.02391	-0.57	0.46317	D	0.998983	B;B	0.20988	0.05;0.001	B;B	0.23852	0.049;0.01	T	0.27297	-1.0078	10	0.15066	T	0.55	-9.5258	19.6436	0.95767	0.0:1.0:0.0:0.0	.	150;150	Q4G154;Q05329	.;DCE2_HUMAN	E	150;150;150;36	ENSP00000365437:A150E;ENSP00000259271:A150E;ENSP00000390434:A150E;ENSP00000365424:A36E	ENSP00000259271:A150E	A	+	2	0	GAD2	26548140	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.830000	0.69324	2.621000	0.88768	0.650000	0.86243	GCA		PASS	0.328	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		40	99	40	99	---	---	---	---
GPRIN2	9721	broad.mit.edu	37	10	46999535	46999535	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr10:46999535G>A	ENST00000374317.1	+	3	928	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	GPRIN2_ENST00000374314.4_Missense_Mutation_p.E219K	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	219								p.E219K(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CAAAGCTGCTGAACAGCTGGC	0.637																																						uc001jec.2																			1	Substitution - Missense(1)		lung(1)		0						c.(655-657)GAA>AAA		G protein-regulated inducer of neurite outgrowth							37.0	37.0	37.0					10																	46999535		2202	4299	6501	SO:0001583	missense	9721							g.chr10:46999535G>A	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.655G>A	10.37:g.46999535G>A	ENSP00000363436:p.Glu219Lys					GPRIN2_uc010qfq.1_5'Flank	p.E219K	NM_014696	NP_055511	O60269	GRIN2_HUMAN			3	790	+			219					Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	c.655G>A	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	G	4.660	0.122662	0.08931	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03831	3.79;3.79	5.29	3.34	0.38264	.	0.301944	0.24134	N	0.041238	T	0.02571	0.0078	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42632	-0.9440	10	0.35671	T	0.21	-7.9104	7.472	0.27355	0.0903:0.0:0.7459:0.1638	.	219	O60269	GRIN2_HUMAN	K	219	ENSP00000363436:E219K;ENSP00000363433:E219K	ENSP00000363433:E219K	E	+	1	0	GPRIN2	46419541	0.001000	0.12720	0.008000	0.14137	0.000000	0.00434	0.889000	0.28282	1.383000	0.46405	-0.254000	0.11334	GAA		PASS	0.637	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		6	56	6	56	---	---	---	---
JMJD1C	221037	broad.mit.edu	37	10	64967446	64967446	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr10:64967446C>T	ENST00000399262.2	-	10	4201	c.3983G>A	c.(3982-3984)cGt>cAt	p.R1328H	JMJD1C_ENST00000542921.1_Missense_Mutation_p.R1146H|JMJD1C_ENST00000399251.1_Missense_Mutation_p.R1109H|JMJD1C_ENST00000402544.1_Missense_Mutation_p.R1109H	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1328					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)	p.R1109Q(1)|p.R1328H(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTCACTAACACGATCTTTAGA	0.423																																						uc001jmn.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(1)|central_nervous_system(1)	6						c.(3982-3984)CGA>CAA		jumonji domain containing 1C isoform a							122.0	111.0	114.0					10																	64967446		1884	4110	5994	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64967446C>T	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.3983G>A	10.37:g.64967446C>T	ENSP00000382204:p.Arg1328His					JMJD1C_uc001jml.2_Missense_Mutation_p.R1109Q|JMJD1C_uc001jmm.2_Missense_Mutation_p.R1040H|JMJD1C_uc010qiq.1_Missense_Mutation_p.R1146H|JMJD1C_uc009xpi.2_Missense_Mutation_p.R1146H|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.R365H	p.R1328Q	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			10	4283	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1328					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.3983G>A	CCDS41532.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.62|15.62	2.887919|2.887919	0.52014|0.52014	.|.	.|.	ENSG00000171988|ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921|ENST00000327520	T;T;T;T|.	0.55760|.	0.85;0.5;2.41;0.85|.	5.94|5.94	3.11|3.11	0.35812|0.35812	.|.	0.377447|.	0.26776|.	N|.	0.022544|.	T|T	0.60753|0.60753	0.2293|0.2293	L|L	0.54323|0.54323	1.7|1.7	0.39564|0.39564	D|D	0.969177|0.969177	D;D;D|.	0.61080|.	0.989;0.989;0.989|.	P;P;P|.	0.48627|.	0.488;0.584;0.488|.	T|T	0.59445|0.59445	-0.7453|-0.7453	10|5	0.59425|.	D|.	0.04|.	-4.6601|-4.6601	11.7718|11.7718	0.51962|0.51962	0.0:0.8076:0.0:0.1924|0.0:0.8076:0.0:0.1924	.|.	869;1328;1146|.	A6PW35;Q15652;A0T124|.	.;JHD2C_HUMAN;.|.	H|M	1328;1109;1109;1146|14	ENSP00000382204:R1328H;ENSP00000384990:R1109H;ENSP00000382195:R1109H;ENSP00000444682:R1146H|.	ENSP00000382195:R1109H|.	R|V	-|-	2|1	0|0	JMJD1C|JMJD1C	64637452|64637452	0.911000|0.911000	0.30947|0.30947	0.999000|0.999000	0.59377|0.59377	0.985000|0.985000	0.73830|0.73830	0.574000|0.574000	0.23714|0.23714	0.863000|0.863000	0.35553|0.35553	-0.194000|-0.194000	0.12790|0.12790	CGT|GTG		PASS	0.423	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		45	128	45	128	---	---	---	---
TET1	80312	broad.mit.edu	37	10	70426800	70426800	+	Splice_Site	SNP	A	A	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr10:70426800A>C	ENST00000373644.4	+	7	4670		c.e7-1			NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1						chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CTGTTTTTTCAGGTTTTAAGA	0.378																																						uc001jok.3																			1	Unknown(1)		lung(1)	ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.e7-2		CXXC finger 6							75.0	75.0	75.0					10																	70426800		2203	4300	6503	SO:0001630	splice_region_variant	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70426800A>C	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.4462-1A>C	10.37:g.70426800A>C							p.V1488_splice	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			7	4967	+								Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Splice_Site	SNP	ENST00000373644.4	37	c.4462_splice	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.948869	0.73787	.	.	ENSG00000138336	ENST00000373644	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1179	0.53875	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TET1	70096806	1.000000	0.71417	0.999000	0.59377	0.854000	0.48673	9.055000	0.93873	1.931000	0.55961	0.528000	0.53228	.		PASS	0.378	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625	Intron	11	17	11	17	---	---	---	---
TACR2	6865	broad.mit.edu	37	10	71168822	71168822	+	Silent	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr10:71168822G>A	ENST00000373306.4	-	3	1140	c.597C>T	c.(595-597)ctC>ctT	p.L199L	TACR2_ENST00000373307.1_5'UTR	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	199					excretion (GO:0007588)|intestine smooth muscle contraction (GO:0014827)|muscle contraction (GO:0006936)|negative regulation of luteinizing hormone secretion (GO:0033685)|operant conditioning (GO:0035106)|positive regulation of acetylcholine secretion, neurotransmission (GO:0014057)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|prolactin secretion (GO:0070459)|tachykinin receptor signaling pathway (GO:0007217)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance K receptor activity (GO:0016497)|tachykinin receptor activity (GO:0004995)	p.L199L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						CGATCACCACGAGGTGGTACC	0.687																																						uc001jpn.2																			1	Substitution - coding silent(1)		lung(1)	prostate(1)	1						c.(595-597)CTC>CTT		tachykinin receptor 2	Clonidine(DB00575)|Octreotide(DB00104)						39.0	36.0	37.0					10																	71168822		2203	4299	6502	SO:0001819	synonymous_variant	6865				excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity	g.chr10:71168822G>A		CCDS7293.1	10q22.1	2012-09-20			ENSG00000075073	ENSG00000075073		"""GPCR / Class A : Tachykinin receptors"""	11527	protein-coding gene	gene with protein product		162321		TAC2R, NKNAR			Standard	NM_001057		Approved	SKR, NK2R	uc001jpn.2	P21452	OTTHUMG00000018377	ENST00000373306.4:c.597C>T	10.37:g.71168822G>A						TACR2_uc001jpm.2_5'UTR	p.L199L	NM_001057	NP_001048	P21452	NK2R_HUMAN			3	1192	-			199			Helical; Name=5; (Potential).		A8K7I1|Q4QRI5|Q8NGQ8|Q9UDE6|Q9UDE7	Silent	SNP	ENST00000373306.4	37	c.597C>T	CCDS7293.1																																																																																				PASS	0.687	TACR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048411.1			3	14	3	14	---	---	---	---
KCNMA1	3778	broad.mit.edu	37	10	78844400	78844400	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr10:78844400G>C	ENST00000286628.8	-	12	1517	c.1518C>G	c.(1516-1518)atC>atG	p.I506M	KCNMA1_ENST00000372443.1_Missense_Mutation_p.I506M|KCNMA1_ENST00000372440.1_Missense_Mutation_p.I506M|KCNMA1_ENST00000404857.1_Missense_Mutation_p.I506M|KCNMA1_ENST00000286627.5_Missense_Mutation_p.I506M|KCNMA1_ENST00000354353.5_Missense_Mutation_p.I506M|KCNMA1_ENST00000484507.1_5'UTR|KCNMA1_ENST00000406533.3_Missense_Mutation_p.I506M|KCNMA1_ENST00000404771.3_Missense_Mutation_p.I506M	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	506	RCK N-terminal.				blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.I506M(2)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	GTTACCTCATGATATTCGAGG	0.537																																						uc001jxn.2																			2	Substitution - Missense(2)		lung(2)	pancreas(2)|ovary(1)	3						c.(1516-1518)ATC>ATG		large conductance calcium-activated potassium	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						72.0	63.0	66.0					10																	78844400		2203	4300	6503	SO:0001583	missense	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78844400G>C	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.1518C>G	10.37:g.78844400G>C	ENSP00000286628:p.Ile506Met					KCNMA1_uc001jxj.2_Missense_Mutation_p.I506M|KCNMA1_uc001jxk.1_Missense_Mutation_p.I121M|KCNMA1_uc009xrt.1_Missense_Mutation_p.I326M|KCNMA1_uc001jxl.1_Missense_Mutation_p.I160M|KCNMA1_uc001jxo.2_Missense_Mutation_p.I506M|KCNMA1_uc001jxm.2_Missense_Mutation_p.I506M|KCNMA1_uc001jxq.2_Missense_Mutation_p.I506M	p.I506M	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		12	1695	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		506			RCK N-terminal.|Cytoplasmic (Potential).		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.1518C>G		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	17.70|17.70|17.70	3.454503|3.454503|3.454503	0.63290|0.63290|0.63290	.|.|.	.|.|.	ENSG00000156113|ENSG00000156113|ENSG00000156113	ENST00000372421;ENST00000434208|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372403	.|T;T;T;T;T;T;T;T;T|.	.|0.72282|.	.|-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64|.	5.82|5.82|5.82	1.72|1.72|1.72	0.24424|0.24424|0.24424	.|Regulator of K+ conductance, N-terminal (1);NAD(P)-binding domain (1);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|.	0.63954|0.63954|.	0.2555|0.2555|.	M|M|M	0.82193|0.82193|0.82193	2.58|2.58|2.58	0.80722|0.80722|0.80722	D|D|D	1|1|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|.	.|0.91635|.	.|0.999;0.996;0.996;0.999;0.996;0.999;0.998;0.998|.	T|T|.	0.62576|0.62576|.	-0.6825|-0.6825|.	5|10|.	.|0.87932|.	.|D|.	.|0|.	-16.134|-16.134|-16.134	2.7568|2.7568|2.7568	0.05295|0.05295|0.05295	0.2851:0.0:0.3633:0.3516|0.2851:0.0:0.3633:0.3516|0.2851:0.0:0.3633:0.3516	.|.|.	.|506;506;506;506;506;288;506;506|.	.|Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.	.|.;.;.;KCMA1_HUMAN;.;.;.;.|.	D|M|X	495;185|506;443;441;480;443;506;506;480;506;506;506;288|457	.|ENSP00000361517:I506M;ENSP00000361485:I443M;ENSP00000361514:I441M;ENSP00000396608:I480M;ENSP00000361520:I506M;ENSP00000286627:I506M;ENSP00000385552:I506M;ENSP00000346321:I506M;ENSP00000385806:I506M|.	.|ENSP00000286627:I506M|.	H|I|S	-|-|-	1|3|2	0|3|0	KCNMA1|KCNMA1|KCNMA1	78514406|78514406|78514406	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.922000|0.922000|0.922000	0.55478|0.55478|0.55478	2.843000|2.843000|2.843000	0.48238|0.48238|0.48238	0.806000|0.806000|0.806000	0.34183|0.34183|0.34183	-0.150000|-0.150000|-0.150000	0.13652|0.13652|0.13652	CAT|ATC|TCA		PASS	0.537	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		7	50	7	50	---	---	---	---
PAX2	5076	broad.mit.edu	37	10	102506039	102506039	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr10:102506039G>C	ENST00000428433.1	+	1	572	c.22G>C	c.(22-24)Gac>Cac	p.D8H	PAX2_ENST00000361791.3_Missense_Mutation_p.D8H|PAX2_ENST00000370296.2_Missense_Mutation_p.D8H|PAX2_ENST00000556085.1_Missense_Mutation_p.D8H|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000355243.3_Missense_Mutation_p.D8H	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	8					aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)	p.D8H(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CTGCAAAGCAGACCCCTTCTC	0.682																																						uc001krk.3																			2	Substitution - Missense(2)		lung(2)		0						c.(22-24)GAC>CAC		paired box protein 2 isoform e							82.0	96.0	91.0					10																	102506039		2203	4300	6503	SO:0001583	missense	5076				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	g.chr10:102506039G>C		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.22G>C	10.37:g.102506039G>C	ENSP00000396259:p.Asp8His					PAX2_uc001krl.3_Missense_Mutation_p.D8H|PAX2_uc001krm.3_Missense_Mutation_p.D8H|PAX2_uc001kro.3_Missense_Mutation_p.D8H|PAX2_uc001krn.3_Missense_Mutation_p.D8H|PAX2_uc010qps.1_Missense_Mutation_p.D8H|PAX2_uc001krp.1_5'Flank	p.D8H	NM_003990	NP_003981	Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	1	572	+		Colorectal(252;0.234)	8					Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Missense_Mutation	SNP	ENST00000428433.1	37	c.22G>C	CCDS53569.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236754	0.79800	.	.	ENSG00000075891	ENST00000370296;ENST00000428433;ENST00000361791;ENST00000355243;ENST00000556085;ENST00000427256	D;D;D;D;D;D	0.97831	-4.17;-4.23;-4.28;-4.24;-4.26;-4.56	4.78	3.87	0.44632	.	0.440664	0.21426	N	0.074729	D	0.96750	0.8939	N	0.14661	0.345	0.54753	D	0.999989	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.96802	0.9590	10	0.72032	D	0.01	.	12.6045	0.56514	0.0827:0.0:0.9173:0.0	.	8;8;8;8	G3V5U4;Q02962-3;Q02962;Q02962-4	.;.;PAX2_HUMAN;.	H	8	ENSP00000359319:D8H;ENSP00000396259:D8H;ENSP00000355069:D8H;ENSP00000347385:D8H;ENSP00000452527:D8H;ENSP00000398652:D8H	ENSP00000347385:D8H	D	+	1	0	PAX2	102496029	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.159000	0.94728	1.007000	0.39238	0.455000	0.32223	GAC		PASS	0.682	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				7	241	7	241	---	---	---	---
POLL	27343	broad.mit.edu	37	10	103344610	103344610	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr10:103344610G>A	ENST00000370162.3	-	5	1134	c.640C>T	c.(640-642)Ctc>Ttc	p.L214F	POLL_ENST00000299206.4_Missense_Mutation_p.L214F|POLL_ENST00000463515.1_5'Flank|POLL_ENST00000370172.1_Missense_Mutation_p.L126F|POLL_ENST00000436284.2_Silent_p.P71P|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370158.3_Intron|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370169.1_Missense_Mutation_p.L214F|POLL_ENST00000456836.2_Intron|POLL_ENST00000339310.3_Intron|POLL_ENST00000370168.3_5'Flank	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	214					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)	p.L214F(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CCACTGATGAGGGCTTCCAGA	0.527								DNA polymerases (catalytic subunits)																														uc001ktg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(640-642)CTC>TTC	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase lambda							47.0	43.0	44.0					10																	103344610		2203	4300	6503	SO:0001583	missense	27343				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	g.chr10:103344610G>A	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.640C>T	10.37:g.103344610G>A	ENSP00000359181:p.Leu214Phe					DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_5'Flank|POLL_uc001kte.1_5'Flank|POLL_uc001kth.1_Intron|POLL_uc001kti.1_Missense_Mutation_p.L214F|POLL_uc001ktj.1_Missense_Mutation_p.L214F|POLL_uc001ktf.2_Intron|POLL_uc001ktk.1_Intron|POLL_uc010qqa.1_Intron|POLL_uc010qqb.1_Intron|POLL_uc001ktm.2_Missense_Mutation_p.L214F|POLL_uc001ktl.2_Missense_Mutation_p.L126F|POLL_uc010qqc.1_Intron|POLL_uc010qqd.1_Silent_p.P71P	p.L214F	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)	4	1406	-		Colorectal(252;0.234)	214					D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Missense_Mutation	SNP	ENST00000370162.3	37	c.640C>T	CCDS7513.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153057	0.78001	.	.	ENSG00000166169	ENST00000299206;ENST00000370174;ENST00000370169;ENST00000370172;ENST00000370162;ENST00000370157;ENST00000426919;ENST00000413344	T;T;T;T;T;T	0.59772	2.64;2.64;2.67;2.64;1.27;0.24	5.92	2.55	0.30701	.	0.000000	0.85682	D	0.000000	T	0.66127	0.2758	M	0.72479	2.2	0.80722	D	1	D	0.65815	0.995	P	0.60068	0.868	T	0.60845	-0.7182	10	0.25106	T	0.35	-11.1442	9.0535	0.36392	0.4385:0.0:0.5615:0.0	.	214	Q9UGP5	DPOLL_HUMAN	F	214;214;214;126;214;214;225;214	ENSP00000299206:L214F;ENSP00000359188:L214F;ENSP00000359191:L126F;ENSP00000359181:L214F;ENSP00000411678:L225F;ENSP00000400517:L214F	ENSP00000299206:L214F	L	-	1	0	POLL	103334600	0.999000	0.42202	0.986000	0.45419	0.908000	0.53690	1.983000	0.40648	0.193000	0.20303	0.561000	0.74099	CTC		PASS	0.527	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274		20	19	20	19	---	---	---	---
NOLC1	9221	broad.mit.edu	37	10	103919289	103919289	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr10:103919289G>C	ENST00000605788.1	+	7	1058	c.823G>C	c.(823-825)Gaa>Caa	p.E275Q	NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_Missense_Mutation_p.E276Q|NOLC1_ENST00000405356.1_Missense_Mutation_p.E285Q	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	275	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)	p.E275Q(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CAGTGACGAGGAAGAGGAGCA	0.522																																						uc001kuo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(823-825)GAA>CAA		nucleolar and coiled-body phosphoprotein 1							105.0	115.0	112.0					10																	103919289		2203	4300	6503	SO:0001583	missense	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103919289G>C	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.823G>C	10.37:g.103919289G>C	ENSP00000474710:p.Glu275Gln					NOLC1_uc001kup.2_Missense_Mutation_p.E285Q|NOLC1_uc001kuq.2_Missense_Mutation_p.E276Q|NOLC1_uc009xxb.1_5'UTR|NOLC1_uc001kur.2_5'UTR	p.E275Q	NM_004741	NP_004732	Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	7	1058	+		Colorectal(252;0.122)	275			Acidic serine cluster 5.|11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.		Q15030|Q5VV70|Q9BUV3	Missense_Mutation	SNP	ENST00000605788.1	37	c.823G>C	CCDS7530.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925160	0.52759	.	.	ENSG00000166197	ENST00000405356;ENST00000370007	T	0.37584	1.19	5.65	5.65	0.86999	.	0.079304	0.53938	D	0.000054	T	0.61375	0.2342	M	0.84326	2.69	0.58432	D	0.999991	D;D;P	0.59767	0.963;0.986;0.938	P;P;P	0.58928	0.776;0.848;0.601	T	0.65034	-0.6266	10	0.56958	D	0.05	-14.32	18.7052	0.91635	0.0:0.0:1.0:0.0	.	276;285;275	Q14978-3;Q14978-2;Q14978	.;.;NOLC1_HUMAN	Q	285;275	ENSP00000385410:E285Q	ENSP00000359024:E275Q	E	+	1	0	NOLC1	103909279	1.000000	0.71417	0.241000	0.24154	0.231000	0.25187	5.722000	0.68485	2.661000	0.90470	0.655000	0.94253	GAA		PASS	0.522	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		24	39	24	39	---	---	---	---
SORCS3	22986	broad.mit.edu	37	10	107022168	107022168	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr10:107022168G>A	ENST00000369701.3	+	26	3750	c.3523G>A	c.(3523-3525)Gaa>Aaa	p.E1175K		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1175					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.E1175K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GAGCCAAAGTGAAAACGCCCC	0.507																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(3523-3525)GAA>AAA		VPS10 domain receptor protein SORCS 3 precursor							95.0	76.0	83.0					10																	107022168		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:107022168G>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3523G>A	10.37:g.107022168G>A	ENSP00000358715:p.Glu1175Lys						p.E1175K	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	26	3750	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	1175			Cytoplasmic (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.3523G>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646753	0.87958	.	.	ENSG00000156395	ENST00000369701	T	0.19938	2.11	5.84	5.84	0.93424	.	0.053516	0.85682	D	0.000000	T	0.16896	0.0406	N	0.17082	0.46	0.58432	D	0.999993	B	0.21606	0.058	B	0.26202	0.067	T	0.11060	-1.0603	9	.	.	.	.	20.1579	0.98126	0.0:0.0:1.0:0.0	.	1175	Q9UPU3	SORC3_HUMAN	K	1175	ENSP00000358715:E1175K	.	E	+	1	0	SORCS3	107012158	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.767000	0.95098	0.555000	0.69702	GAA		PASS	0.507	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		12	49	12	49	---	---	---	---
SMC3	9126	broad.mit.edu	37	10	112344088	112344088	+	Silent	SNP	T	T	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr10:112344088T>C	ENST00000361804.4	+	13	1365	c.1239T>C	c.(1237-1239)atT>atC	p.I413I		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	413					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)	p.I413I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AAAGACAGATTGCTGCTATAC	0.343																																						uc001kze.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1237-1239)ATT>ATC		structural maintenance of chromosomes 3							104.0	109.0	107.0					10																	112344088		2203	4300	6503	SO:0001819	synonymous_variant	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112344088T>C	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.1239T>C	10.37:g.112344088T>C							p.I413I	NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	13	1365	+		Breast(234;0.0848)|Lung NSC(174;0.238)	413			Potential.		A8K156|O60464|Q5T482	Silent	SNP	ENST00000361804.4	37	c.1239T>C	CCDS31285.1																																																																																				PASS	0.343	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		5	90	5	90	---	---	---	---
TUBGCP2	10844	broad.mit.edu	37	10	135106044	135106044	+	Silent	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr10:135106044C>G	ENST00000252936.3	-	7	1212	c.1173G>C	c.(1171-1173)ctG>ctC	p.L391L	TUBGCP2_ENST00000368563.2_Silent_p.L391L|TUBGCP2_ENST00000368562.1_5'Flank|TUBGCP2_ENST00000543663.1_Silent_p.L419L|RP11-122K13.12_ENST00000424450.1_RNA|TUBGCP2_ENST00000417178.2_Silent_p.L261L			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	391					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.L391L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TCCACTTCTCCAGAACCTCGA	0.627																																						uc001lmg.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1171-1173)CTG>CTC		tubulin, gamma complex associated protein 2							124.0	100.0	108.0					10																	135106044		2203	4300	6503	SO:0001819	synonymous_variant	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135106044C>G	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.1173G>C	10.37:g.135106044C>G						TUBGCP2_uc001lmf.1_5'Flank|TUBGCP2_uc010qvc.1_Silent_p.L419L|TUBGCP2_uc009ybk.1_Silent_p.L391L|TUBGCP2_uc010qvd.1_Silent_p.L261L|TUBGCP2_uc001lmh.1_RNA	p.L391L	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	8	1530	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	391					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	ENST00000252936.3	37	c.1173G>C	CCDS7676.1																																																																																				PASS	0.627	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			10	42	10	42	---	---	---	---
OR52E2	119678	broad.mit.edu	37	11	5080688	5080688	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr11:5080688A>G	ENST00000321522.2	-	1	169	c.170T>C	c.(169-171)cTa>cCa	p.L57P		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L57P(1)		endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGGCTGGTGTAGGCTGCTGTC	0.488																																						uc010qyw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(169-171)CTA>CCA		olfactory receptor, family 52, subfamily E,							112.0	97.0	102.0					11																	5080688		2201	4298	6499	SO:0001583	missense	119678				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5080688A>G	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.170T>C	11.37:g.5080688A>G	ENSP00000322088:p.Leu57Pro						p.L57P	NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	170	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	57			Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000321522.2	37	c.170T>C	CCDS31371.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.906951	0.52333	.	.	ENSG00000176787	ENST00000321522	T	0.14893	2.47	3.57	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41294	D	0.000907	T	0.60728	0.2291	H	0.99697	4.71	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77242	-0.2660	10	0.72032	D	0.01	.	11.9935	0.53188	1.0:0.0:0.0:0.0	.	57	Q8NGJ4	O52E2_HUMAN	P	57	ENSP00000322088:L57P	ENSP00000322088:L57P	L	-	2	0	OR52E2	5037264	1.000000	0.71417	0.988000	0.46212	0.566000	0.35808	8.863000	0.92288	1.882000	0.54519	0.529000	0.55759	CTA		PASS	0.488	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		18	38	18	38	---	---	---	---
CNGA4	1262	broad.mit.edu	37	11	6265537	6265537	+	Silent	SNP	C	C	T	rs560979109		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr11:6265537C>T	ENST00000379936.2	+	6	1741	c.1626C>T	c.(1624-1626)ccC>ccT	p.P542P		NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	542					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.P542P(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCAATGCCCGAGGACCTGG	0.607													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17683	0.0		0.0	False		,,,				2504	0.0					uc001mco.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1624-1626)CCC>CCT		cyclic nucleotide gated channel alpha 4							51.0	53.0	53.0					11																	6265537		2201	4296	6497	SO:0001819	synonymous_variant	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6265537C>T	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.1626C>T	11.37:g.6265537C>T						CNGA4_uc010raa.1_3'UTR|CNGA4_uc001mcn.2_3'UTR	p.P542P	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	6	1733	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	542			Cytoplasmic (Potential).			Silent	SNP	ENST00000379936.2	37	c.1626C>T	CCDS31408.1																																																																																				PASS	0.607	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		14	36	14	36	---	---	---	---
CYB5R2	51700	broad.mit.edu	37	11	7689735	7689735	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr11:7689735T>A	ENST00000533558.1	-	6	1002	c.446A>T	c.(445-447)cAc>cTc	p.H149L	CYB5R2_ENST00000528585.1_5'UTR|CYB5R2_ENST00000299498.6_Missense_Mutation_p.H149L|CYB5R2_ENST00000299497.9_Missense_Mutation_p.H149L|CYB5R2_ENST00000524790.1_Missense_Mutation_p.H149L			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	149					oxidation-reduction process (GO:0055114)|sterol biosynthetic process (GO:0016126)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)	p.H149L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CATTCCCAGGTGATCGGCCAG	0.517																																						uc001mfm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(445-447)CAC>CTC		cytochrome b5 reductase b5R.2							207.0	202.0	204.0					11																	7689735		2201	4296	6497	SO:0001583	missense	51700				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity	g.chr11:7689735T>A	AF169802	CCDS7780.1	11p15.4	2014-08-12			ENSG00000166394	ENSG00000166394	1.6.2.2		24376	protein-coding gene	gene with protein product		608342				10611283	Standard	XM_005252973		Approved		uc001mfm.3	Q6BCY4	OTTHUMG00000165665	ENST00000533558.1:c.446A>T	11.37:g.7689735T>A	ENSP00000437041:p.His149Leu					CYB5R2_uc001mfn.2_RNA|CYB5R2_uc009yfk.2_Missense_Mutation_p.H149L|CYB5R2_uc009yfl.1_3'UTR	p.H149L	NM_016229	NP_057313	Q6BCY4	NB5R2_HUMAN		Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	6	684	-			149			FAD (By similarity).		Q9BVA3|Q9UF68|Q9UHJ0	Missense_Mutation	SNP	ENST00000533558.1	37	c.446A>T	CCDS7780.1	.	.	.	.	.	.	.	.	.	.	T	18.40	3.615202	0.66672	.	.	ENSG00000166394	ENST00000524790;ENST00000299498;ENST00000533558;ENST00000299497;ENST00000531096	D;D;D;D;D	0.94862	-3.54;-3.54;-3.54;-3.54;-3.54	5.5	5.5	0.81552	.	0.195209	0.53938	D	0.000053	D	0.93566	0.7946	M	0.76727	2.345	0.80722	D	1	B	0.06786	0.001	B	0.13407	0.009	D	0.91127	0.4934	10	0.59425	D	0.04	-13.9107	13.6097	0.62071	0.0:0.0:0.0:1.0	.	149	Q6BCY4	NB5R2_HUMAN	L	149	ENSP00000435916:H149L;ENSP00000299498:H149L;ENSP00000437041:H149L;ENSP00000299497:H149L;ENSP00000434969:H149L	ENSP00000299497:H149L	H	-	2	0	CYB5R2	7646311	1.000000	0.71417	0.990000	0.47175	0.941000	0.58515	7.317000	0.79018	2.308000	0.77769	0.533000	0.62120	CAC		PASS	0.517	CYB5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385679.1	NM_016229		96	154	96	154	---	---	---	---
CYB5R2	51700	broad.mit.edu	37	11	7689738	7689738	+	Missense_Mutation	SNP	T	T	A	rs142026127	byFrequency	TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr11:7689738T>A	ENST00000533558.1	-	6	999	c.443A>T	c.(442-444)gAt>gTt	p.D148V	CYB5R2_ENST00000528585.1_5'UTR|CYB5R2_ENST00000299498.6_Missense_Mutation_p.D148V|CYB5R2_ENST00000299497.9_Missense_Mutation_p.D148V|CYB5R2_ENST00000524790.1_Missense_Mutation_p.D148V			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	148					oxidation-reduction process (GO:0055114)|sterol biosynthetic process (GO:0016126)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)	p.D148V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCCCAGGTGATCGGCCAGTGT	0.507																																						uc001mfm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(442-444)GAT>GTT		cytochrome b5 reductase b5R.2							208.0	203.0	205.0					11																	7689738		2201	4296	6497	SO:0001583	missense	51700				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity	g.chr11:7689738T>A	AF169802	CCDS7780.1	11p15.4	2014-08-12			ENSG00000166394	ENSG00000166394	1.6.2.2		24376	protein-coding gene	gene with protein product		608342				10611283	Standard	XM_005252973		Approved		uc001mfm.3	Q6BCY4	OTTHUMG00000165665	ENST00000533558.1:c.443A>T	11.37:g.7689738T>A	ENSP00000437041:p.Asp148Val					CYB5R2_uc001mfn.2_RNA|CYB5R2_uc009yfk.2_Missense_Mutation_p.D148V|CYB5R2_uc009yfl.1_3'UTR	p.D148V	NM_016229	NP_057313	Q6BCY4	NB5R2_HUMAN		Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	6	681	-			148			FAD (By similarity).		Q9BVA3|Q9UF68|Q9UHJ0	Missense_Mutation	SNP	ENST00000533558.1	37	c.443A>T	CCDS7780.1	.	.	.	.	.	.	.	.	.	.	T	17.81	3.481906	0.63849	.	.	ENSG00000166394	ENST00000524790;ENST00000299498;ENST00000533558;ENST00000299497;ENST00000531096	D;D;D;D;D	0.94897	-3.55;-3.55;-3.55;-3.55;-3.55	5.5	-8.58	0.00897	.	1.343810	0.04858	N	0.443586	D	0.91663	0.7365	M	0.66560	2.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.80219	-0.1473	10	0.87932	D	0	8.6379	9.8935	0.41304	0.0:0.5124:0.2076:0.2799	.	148	Q6BCY4	NB5R2_HUMAN	V	148	ENSP00000435916:D148V;ENSP00000299498:D148V;ENSP00000437041:D148V;ENSP00000299497:D148V;ENSP00000434969:D148V	ENSP00000299497:D148V	D	-	2	0	CYB5R2	7646314	0.000000	0.05858	0.000000	0.03702	0.732000	0.41865	-0.267000	0.08619	-1.909000	0.01085	0.533000	0.62120	GAT		PASS	0.507	CYB5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385679.1	NM_016229		93	158	93	158	---	---	---	---
ABTB2	25841	broad.mit.edu	37	11	34180853	34180853	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr11:34180853T>C	ENST00000435224.2	-	14	3111	c.2687A>G	c.(2686-2688)cAc>cGc	p.H896R	ABTB2_ENST00000298992.2_Missense_Mutation_p.H710R	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	896	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)		p.H710R(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CTGAAAAATGTGGTACTTCAT	0.522																																						uc001mvl.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(2128-2130)CAC>CGC		ankyrin repeat and BTB (POZ) domain containing							269.0	179.0	209.0					11																	34180853		2202	4298	6500	SO:0001583	missense	25841						DNA binding	g.chr11:34180853T>C	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.2687A>G	11.37:g.34180853T>C	ENSP00000410157:p.His896Arg						p.H710R	NM_145804	NP_665803	Q8N961	ABTB2_HUMAN			14	2359	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	710					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	ENST00000435224.2	37	c.2129A>G	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	T	13.16	2.153073	0.38021	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.66460	-0.21;-0.21	5.32	4.17	0.49024	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.220105	0.45126	D	0.000387	T	0.43853	0.1266	N	0.10916	0.065	0.36351	D	0.860102	B	0.16603	0.018	B	0.20955	0.032	T	0.49960	-0.8883	10	0.56958	D	0.05	-12.7679	6.1141	0.20117	0.0:0.1346:0.1458:0.7196	.	710	Q8N961	ABTB2_HUMAN	R	896;710	ENSP00000410157:H896R;ENSP00000298992:H710R	ENSP00000298992:H710R	H	-	2	0	ABTB2	34137429	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	2.509000	0.45459	2.129000	0.65627	0.533000	0.62120	CAC		PASS	0.522	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		8	39	8	39	---	---	---	---
ABTB2	25841	broad.mit.edu	37	11	34226167	34226167	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr11:34226167A>C	ENST00000435224.2	-	2	1378	c.954T>G	c.(952-954)gaT>gaG	p.D318E	ABTB2_ENST00000530814.1_5'UTR|ABTB2_ENST00000298992.2_Missense_Mutation_p.D132E	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	318					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)		p.D132E(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GGGCATAGGCATCGGCTCGCT	0.632																																						uc001mvl.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(394-396)GAT>GAG		ankyrin repeat and BTB (POZ) domain containing							35.0	36.0	36.0					11																	34226167		2202	4298	6500	SO:0001583	missense	25841						DNA binding	g.chr11:34226167A>C	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.954T>G	11.37:g.34226167A>C	ENSP00000410157:p.Asp318Glu						p.D132E	NM_145804	NP_665803	Q8N961	ABTB2_HUMAN			2	626	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	132					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	ENST00000435224.2	37	c.396T>G	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	A	14.37	2.515115	0.44763	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.59224	0.28;0.29	5.0	-7.62	0.01294	.	0.170822	0.49916	D	0.000128	T	0.42899	0.1223	L	0.46157	1.445	0.32448	N	0.545814	B	0.30406	0.278	B	0.24974	0.057	T	0.07046	-1.0793	10	0.25106	T	0.35	-12.1016	17.5591	0.87901	0.4826:0.0:0.5174:0.0	.	132	Q8N961	ABTB2_HUMAN	E	318;132	ENSP00000410157:D318E;ENSP00000298992:D132E	ENSP00000298992:D132E	D	-	3	2	ABTB2	34182743	0.050000	0.20438	0.115000	0.21578	0.958000	0.62258	-0.382000	0.07408	-2.824000	0.00342	-1.815000	0.00603	GAT		PASS	0.632	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		16	17	16	17	---	---	---	---
LRRC4C	57689	broad.mit.edu	37	11	40136744	40136744	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr11:40136744C>T	ENST00000278198.2	-	2	3062	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K	LRRC4C_ENST00000528697.1_Missense_Mutation_p.E367K|LRRC4C_ENST00000527150.1_Missense_Mutation_p.E367K|LRRC4C_ENST00000530763.1_Missense_Mutation_p.E367K			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	367	Ig-like C2-type.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.E367K(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GCCATGCCTTCAGTGACATTG	0.507																																						uc001mxa.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(3)|central_nervous_system(1)	8						c.(1099-1101)GAA>AAA		netrin-G1 ligand precursor							90.0	81.0	84.0					11																	40136744		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136744C>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1099G>A	11.37:g.40136744C>T	ENSP00000278198:p.Glu367Lys					LRRC4C_uc001mxc.1_Missense_Mutation_p.E363K|LRRC4C_uc001mxd.1_Missense_Mutation_p.E363K|LRRC4C_uc001mxb.1_Missense_Mutation_p.E363K	p.E367K	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	3063	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	367			Ig-like C2-type.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.1099G>A	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945715	0.73672	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.72	5.72	0.89469	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.52645	0.1747	L	0.58583	1.82	0.80722	D	1	D	0.71674	0.998	D	0.66979	0.948	T	0.43925	-0.9361	10	0.46703	T	0.11	.	18.9424	0.92610	0.0:1.0:0.0:0.0	.	367	Q9HCJ2	LRC4C_HUMAN	K	367	ENSP00000278198:E367K;ENSP00000436976:E367K;ENSP00000437132:E367K;ENSP00000434761:E367K	ENSP00000278198:E367K	E	-	1	0	LRRC4C	40093320	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.754000	0.85163	2.728000	0.93425	0.650000	0.86243	GAA		PASS	0.507	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		22	110	22	110	---	---	---	---
OR8J3	81168	broad.mit.edu	37	11	55904510	55904510	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr11:55904510G>T	ENST00000301529.1	-	1	684	c.685C>A	c.(685-687)Cgt>Agt	p.R229S		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R229S(1)|p.R229G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TCTGGTGAACGTATCCTTAGA	0.363																																						uc010riz.1																			2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(685-687)CGT>AGT		olfactory receptor, family 8, subfamily J,							99.0	94.0	95.0					11																	55904510		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904510G>T		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.685C>A	11.37:g.55904510G>T	ENSP00000301529:p.Arg229Ser						p.R229S	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			1	685	-	Esophageal squamous(21;0.00693)		229			Cytoplasmic (Potential).		Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.685C>A	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	G	3.351	-0.132445	0.06753	.	.	ENSG00000167822	ENST00000301529	T	0.37235	1.21	3.27	-0.033	0.13902	GPCR, rhodopsin-like superfamily (1);	0.402874	0.24590	N	0.037233	T	0.22551	0.0544	L	0.33624	1.015	0.09310	N	1	B	0.28801	0.223	B	0.35073	0.195	T	0.12553	-1.0543	10	0.39692	T	0.17	.	1.408	0.02285	0.1994:0.1549:0.4586:0.1872	.	229	Q8NGG0	OR8J3_HUMAN	S	229	ENSP00000301529:R229S	ENSP00000301529:R229S	R	-	1	0	OR8J3	55661086	0.000000	0.05858	0.000000	0.03702	0.176000	0.22953	-0.366000	0.07563	0.012000	0.14892	-0.707000	0.03653	CGT		PASS	0.363	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		5	98	5	98	---	---	---	---
OR5J2	282775	broad.mit.edu	37	11	55944867	55944867	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr11:55944867C>A	ENST00000312298.1	+	1	774	c.774C>A	c.(772-774)agC>agA	p.S258R		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S258S(1)|p.S258R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TAATCTTTAGCTACATTCAGC	0.453																																						uc010rjb.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4						c.(772-774)AGC>AGA		olfactory receptor, family 5, subfamily J,							125.0	123.0	124.0					11																	55944867		2201	4296	6497	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944867C>A	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.774C>A	11.37:g.55944867C>A	ENSP00000310788:p.Ser258Arg						p.S258R	NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN			1	774	+	Esophageal squamous(21;0.00693)		258			Helical; Name=6; (Potential).		Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.774C>A	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	C	9.127	1.010373	0.19277	.	.	ENSG00000174957	ENST00000312298	T	0.00107	8.72	4.26	-3.32	0.04973	GPCR, rhodopsin-like superfamily (1);	0.266144	0.32372	N	0.006184	T	0.00144	0.0004	L	0.38953	1.18	0.09310	N	1	D	0.56968	0.978	P	0.57425	0.82	T	0.54403	-0.8299	10	0.72032	D	0.01	.	1.6803	0.02830	0.1406:0.3532:0.1431:0.363	.	258	Q8NH18	OR5J2_HUMAN	R	258	ENSP00000310788:S258R	ENSP00000310788:S258R	S	+	3	2	OR5J2	55701443	0.000000	0.05858	0.006000	0.13384	0.012000	0.07955	-2.111000	0.01333	-0.118000	0.11851	-1.523000	0.00931	AGC		PASS	0.453	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		25	148	25	148	---	---	---	---
MS4A2	2206	broad.mit.edu	37	11	59857928	59857928	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr11:59857928C>A	ENST00000278888.3	+	3	408	c.306C>A	c.(304-306)ttC>ttA	p.F102L		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	102					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)		p.F102L(1)		endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	GTTATCCATTCTGGGGAGCCA	0.343																																						uc001nop.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(304-306)TTC>TTA		membrane-spanning 4-domains, subfamily A, member	Omalizumab(DB00043)						133.0	131.0	132.0					11																	59857928		2200	4294	6494	SO:0001583	missense	2206				cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity	g.chr11:59857928C>A	M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"""Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"""	147138	"""IgE responsiveness (atopic)"", ""membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"""	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.306C>A	11.37:g.59857928C>A	ENSP00000278888:p.Phe102Leu					MS4A2_uc009ymu.2_Missense_Mutation_p.F102L	p.F102L	NM_000139	NP_000130	Q01362	FCERB_HUMAN			3	408	+		all_epithelial(135;0.245)	102			Helical; (Potential).		Q54A81	Missense_Mutation	SNP	ENST00000278888.3	37	c.306C>A	CCDS7980.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.413563	0.42817	.	.	ENSG00000149534	ENST00000278888	T	0.02812	4.15	4.59	-2.05	0.07321	.	0.785921	0.12071	N	0.502255	T	0.03348	0.0097	M	0.73962	2.25	0.34072	D	0.658514	B;B	0.18610	0.029;0.029	B;B	0.20955	0.032;0.032	T	0.32798	-0.9893	10	0.27785	T	0.31	-11.1563	0.5108	0.00595	0.2848:0.359:0.1403:0.2159	.	32;102	Q14298;Q01362	.;FCERB_HUMAN	L	102	ENSP00000278888:F102L	ENSP00000278888:F102L	F	+	3	2	MS4A2	59614504	0.966000	0.33281	0.984000	0.44739	0.997000	0.91878	-0.443000	0.06862	-0.353000	0.08224	0.585000	0.79938	TTC		PASS	0.343	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393844.1			5	213	5	213	---	---	---	---
CD6	923	broad.mit.edu	37	11	60785236	60785236	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr11:60785236G>C	ENST00000313421.7	+	11	1774	c.1588G>C	c.(1588-1590)Gaa>Caa	p.E530Q	CD6_ENST00000346437.4_Missense_Mutation_p.E457Q|CD6_ENST00000344028.5_Missense_Mutation_p.E498Q|CD6_ENST00000352009.5_Missense_Mutation_p.E498Q|CD6_ENST00000452451.2_Missense_Mutation_p.E489Q	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	530					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)	p.E530Q(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CTTAGGACTTGAAGAGTTGCA	0.522																																					Pancreas(169;904 2017 4767 38890 42505)	uc001nqq.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(1588-1590)GAA>CAA		CD6 molecule precursor							82.0	87.0	85.0					11																	60785236		2203	4299	6502	SO:0001583	missense	923				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	g.chr11:60785236G>C		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"""CD molecules"""	1691	protein-coding gene	gene with protein product		186720	"""CD6 antigen"""			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.1588G>C	11.37:g.60785236G>C	ENSP00000323280:p.Glu530Gln					CD6_uc001nqp.2_Missense_Mutation_p.E530Q|CD6_uc001nqr.2_Missense_Mutation_p.E498Q|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Missense_Mutation_p.E489Q	p.E530Q	NM_006725	NP_006716	P30203	CD6_HUMAN			11	1811	+			530			Cytoplasmic (Potential).		A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Missense_Mutation	SNP	ENST00000313421.7	37	c.1588G>C	CCDS7999.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.501606	0.26949	.	.	ENSG00000013725	ENST00000344028;ENST00000346437;ENST00000313421;ENST00000433107;ENST00000452451;ENST00000352009	T;T;T;T;T;T	0.01685	4.71;4.76;4.79;4.8;4.75;4.69	4.37	2.5	0.30297	.	0.995228	0.08144	N	0.991214	T	0.05227	0.0139	L	0.57536	1.79	0.09310	N	0.999993	D;D;B;D	0.57571	0.98;0.98;0.264;0.966	P;P;B;P	0.55303	0.711;0.773;0.049;0.518	T	0.42548	-0.9445	10	0.87932	D	0	.	6.1288	0.20194	0.2206:0.0:0.7794:0.0	.	489;498;530;530	P30203-5;P30203-4;P30203;Q8N4Q7	.;.;CD6_HUMAN;.	Q	498;457;530;397;489;498	ENSP00000344108:E498Q;ENSP00000345566:E457Q;ENSP00000323280:E530Q;ENSP00000410638:E397Q;ENSP00000390676:E489Q;ENSP00000340628:E498Q	ENSP00000323280:E530Q	E	+	1	0	CD6	60541812	0.950000	0.32346	0.993000	0.49108	0.394000	0.30568	1.457000	0.35212	1.209000	0.43321	0.591000	0.81541	GAA		PASS	0.522	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725		18	108	18	108	---	---	---	---
FERMT3	83706	broad.mit.edu	37	11	63978285	63978285	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr11:63978285C>G	ENST00000279227.5	+	3	458	c.363C>G	c.(361-363)ttC>ttG	p.F121L	FERMT3_ENST00000345728.5_Missense_Mutation_p.F121L	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	121					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.F121L(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						AGCCCCTCTTCCAGGCTGTGG	0.667																																						uc001nyl.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(361-363)TTC>TTG		fermitin family homolog 3 long form							60.0	70.0	67.0					11																	63978285		2201	4297	6498	SO:0001583	missense	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.chr11:63978285C>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.363C>G	11.37:g.63978285C>G	ENSP00000279227:p.Phe121Leu					FERMT3_uc001nym.2_Missense_Mutation_p.F121L	p.F121L	NM_178443	NP_848537	Q86UX7	URP2_HUMAN			3	512	+			121					Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	37	c.363C>G	CCDS8060.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723593	0.48728	.	.	ENSG00000149781	ENST00000544997;ENST00000345728;ENST00000279227	T;T;T	0.15256	2.44;2.44;2.44	3.68	2.76	0.32466	Band 4.1 domain (1);	0.131761	0.50627	D	0.000108	T	0.31796	0.0808	M	0.64404	1.975	0.47584	D	0.99946	D;B	0.67145	0.996;0.074	D;B	0.70935	0.971;0.065	T	0.02196	-1.1197	10	0.46703	T	0.11	-11.8454	6.9583	0.24583	0.0:0.7811:0.0:0.2189	.	121;121	Q86UX7-2;Q86UX7	.;URP2_HUMAN	L	121	ENSP00000445778:F121L;ENSP00000339950:F121L;ENSP00000279227:F121L	ENSP00000279227:F121L	F	+	3	2	FERMT3	63734861	1.000000	0.71417	0.952000	0.39060	0.987000	0.75469	2.352000	0.44080	0.905000	0.36596	0.555000	0.69702	TTC		PASS	0.667	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		49	176	49	176	---	---	---	---
PGM2L1	283209	broad.mit.edu	37	11	74057825	74057825	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr11:74057825G>A	ENST00000298198.4	-	8	1300	c.989C>T	c.(988-990)gCc>gTc	p.A330V		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	330					glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)	p.A330V(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					AGGATCTGTGGCTAGCACTAC	0.418																																						uc001ovb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(988-990)GCC>GTC		phosphoglucomutase 2-like 1							140.0	147.0	144.0					11																	74057825		2200	4293	6493	SO:0001583	missense	283209				glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity	g.chr11:74057825G>A	AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"""glucose-1,6-bisphosphate synthase"""	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.989C>T	11.37:g.74057825G>A	ENSP00000298198:p.Ala330Val						p.A330V	NM_173582	NP_775853	Q6PCE3	PGM2L_HUMAN			8	1285	-	Breast(11;3.32e-06)		330					Q96MQ7|Q9UIK3	Missense_Mutation	SNP	ENST00000298198.4	37	c.989C>T	CCDS8231.1	.	.	.	.	.	.	.	.	.	.	G	33	5.225631	0.95173	.	.	ENSG00000165434	ENST00000298198	T	0.68624	-0.34	5.63	5.63	0.86233	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain II (1);	0.000000	0.85682	D	0.000000	D	0.86201	0.5876	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89039	0.3447	10	0.72032	D	0.01	-9.8284	17.1725	0.86833	0.0:0.0:1.0:0.0	.	330	Q6PCE3	PGM2L_HUMAN	V	330	ENSP00000298198:A330V	ENSP00000298198:A330V	A	-	2	0	PGM2L1	73735473	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.320000	0.96346	2.636000	0.89361	0.655000	0.94253	GCC		PASS	0.418	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398324.1	NM_173582		7	343	7	343	---	---	---	---
DDI1	414301	broad.mit.edu	37	11	103908395	103908395	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr11:103908395T>G	ENST00000302259.3	+	1	1088	c.845T>G	c.(844-846)gTg>gGg	p.V282G	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	282							aspartic-type endopeptidase activity (GO:0004190)	p.V282G(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		ATGAGGCTGGTGGACCGACGG	0.502																																						uc001phr.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5						c.(844-846)GTG>GGG		DDI1, DNA-damage inducible 1, homolog 1							99.0	95.0	97.0					11																	103908395		2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908395T>G		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.845T>G	11.37:g.103908395T>G	ENSP00000302805:p.Val282Gly					PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	p.V282G	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	1088	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	282					Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.845T>G	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.309890	0.81247	.	.	ENSG00000170967	ENST00000302259	T	0.51325	0.71	5.21	5.21	0.72293	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	T	0.70962	0.3284	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76176	-0.3055	10	0.87932	D	0	-8.4251	13.3819	0.60773	0.0:0.0:0.0:1.0	.	282	Q8WTU0	DDI1_HUMAN	G	282	ENSP00000302805:V282G	ENSP00000302805:V282G	V	+	2	0	DDI1	103413605	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.177000	0.77650	2.326000	0.78906	0.533000	0.62120	GTG		PASS	0.502	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		61	74	61	74	---	---	---	---
KMT2A	4297	broad.mit.edu	37	11	118352801	118352801	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr11:118352801G>T	ENST00000389506.5	+	7	4006	c.4006G>T	c.(4006-4008)Gaa>Taa	p.E1336*	KMT2A_ENST00000534358.1_Nonsense_Mutation_p.E1336*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.E1336*|KMT2A_ENST00000420751.2_3'UTR			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1336					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.E1336*(2)									TCCACCACCAGAATCAGGTGA	0.478																																						uc001pta.2										T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		2	Substitution - Nonsense(2)		lung(2)	lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(4006-4008)GAA>TAA		myeloid/lymphoid or mixed-lineage leukemia							25.0	26.0	26.0					11																	118352801		2200	4296	6496	SO:0001587	stop_gained	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118352801G>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.4006G>T	11.37:g.118352801G>T	ENSP00000374157:p.Glu1336*					MLL_uc001ptb.2_Nonsense_Mutation_p.E1336*|MLL_uc001pte.1_RNA|MLL_uc009zab.1_Missense_Mutation_p.Q61H	p.E1336*	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	7	4029	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	1336					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Nonsense_Mutation	SNP	ENST00000389506.5	37	c.4006G>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	43	10.433404	0.99404	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520;ENST00000359313;ENST00000392873	.	.	.	5.37	5.37	0.77165	.	0.725173	0.13548	N	0.379706	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	16.6469	0.85178	0.0:0.0:1.0:0.0	.	.	.	.	X	1336;1369;1336;1336;246;86	.	ENSP00000346516:E1336X	E	+	1	0	MLL	117858011	1.000000	0.71417	0.766000	0.31476	0.953000	0.61014	6.752000	0.74898	2.680000	0.91292	0.563000	0.77884	GAA		PASS	0.478	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		14	19	14	19	---	---	---	---
ARHGAP32	9743	broad.mit.edu	37	11	128840352	128840352	+	Missense_Mutation	SNP	C	C	T	rs200206728		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr11:128840352C>T	ENST00000310343.9	-	22	4713	c.4714G>A	c.(4714-4716)Gaa>Aaa	p.E1572K	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.E1223K|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.E1223K	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1572	Interaction with GAB2.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.E1572K(1)|p.E1223K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGAATGTCTTCGGGGTAACAG	0.552													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20836	0.0		0.0	False		,,,				2504	0.0					uc009zcp.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)	5						c.(4714-4716)GAA>AAA		Rho GTPase-activating protein isoform 1							79.0	70.0	73.0					11																	128840352		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128840352C>T	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.4714G>A	11.37:g.128840352C>T	ENSP00000310561:p.Glu1572Lys					ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.E531K|ARHGAP32_uc001qez.2_Missense_Mutation_p.E1223K	p.E1572K	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN			22	4714	-			1572			Interaction with GAB2.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.4714G>A	CCDS44769.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	19.32	3.804155	0.70682	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.09350	3.0;2.99;2.99	5.75	4.83	0.62350	.	0.117279	0.64402	D	0.000007	T	0.13500	0.0327	M	0.62723	1.935	0.31218	N	0.697822	B	0.30709	0.291	B	0.13407	0.009	T	0.02933	-1.1092	10	0.52906	T	0.07	.	16.0	0.80288	0.1357:0.8643:0.0:0.0	.	1572	A7KAX9	RHG32_HUMAN	K	1572;1223;1223	ENSP00000310561:E1572K;ENSP00000376425:E1223K;ENSP00000432862:E1223K	ENSP00000310561:E1572K	E	-	1	0	ARHGAP32	128345562	0.999000	0.42202	0.869000	0.34112	0.867000	0.49689	4.053000	0.57427	1.393000	0.46605	0.655000	0.94253	GAA		PASS	0.552	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		15	65	15	65	---	---	---	---
KCNA6	3742	broad.mit.edu	37	12	4920213	4920213	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr12:4920213A>C	ENST00000280684.3	+	1	1872	c.1006A>C	c.(1006-1008)Atg>Ctg	p.M336L	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.M336L			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	336					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.M336L(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	GCAGCAGGCCATGTCCCTGGC	0.632										HNSCC(72;0.22)																												uc001qng.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1006-1008)ATG>CTG		potassium voltage-gated channel, shaker-related							46.0	41.0	43.0					12																	4920213		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4920213A>C	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.1006A>C	12.37:g.4920213A>C	ENSP00000280684:p.Met336Leu	HNSCC(72;0.22)					p.M336L	NM_002235	NP_002226	P17658	KCNA6_HUMAN			1	1872	+			336						Missense_Mutation	SNP	ENST00000280684.3	37	c.1006A>C	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	A	16.50	3.140984	0.56936	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.98313	-4.86;-4.86	5.18	5.18	0.71444	Ion transport (1);	0.078973	0.85682	D	0.000000	D	0.96620	0.8897	L	0.49126	1.545	0.52501	D	0.999954	B	0.26635	0.155	B	0.29663	0.105	D	0.95530	0.8602	10	0.52906	T	0.07	.	14.3644	0.66795	1.0:0.0:0.0:0.0	.	336	P17658	KCNA6_HUMAN	L	336	ENSP00000408321:M336L;ENSP00000280684:M336L	ENSP00000280684:M336L	M	+	1	0	KCNA6	4790474	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.981000	0.93465	2.172000	0.68678	0.533000	0.62120	ATG		PASS	0.632	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		19	51	19	51	---	---	---	---
GDF3	9573	broad.mit.edu	37	12	7842861	7842861	+	Silent	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr12:7842861C>T	ENST00000329913.3	-	2	755	c.708G>A	c.(706-708)gtG>gtA	p.V236V		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	236					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)	p.V236V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGTTGAGAGTCACCACCAGCA	0.517																																						uc001qte.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)|lung(1)|central_nervous_system(1)	6						c.(706-708)GTG>GTA		growth differentiation factor 3 precursor							102.0	93.0	96.0					12																	7842861		2203	4300	6503	SO:0001819	synonymous_variant	9573				eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:7842861C>T	AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"""Endogenous ligands"""	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.708G>A	12.37:g.7842861C>T							p.V236V	NM_020634	NP_065685	Q9NR23	GDF3_HUMAN			2	744	-			236					Q8NEJ4	Silent	SNP	ENST00000329913.3	37	c.708G>A	CCDS8581.1																																																																																				PASS	0.517	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1			4	97	4	97	---	---	---	---
TAS2R19	259294	broad.mit.edu	37	12	11174550	11174550	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr12:11174550C>A	ENST00000390673.2	-	1	669	c.621G>T	c.(619-621)aaG>aaT	p.K207N	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	207					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.K207N(1)		breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						GCCGCATCTTCTTGAGATGTT	0.403																																						uc010shj.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(619-621)AAG>AAT		taste receptor, type 2, member 19							144.0	142.0	143.0					12																	11174550		2203	4300	6503	SO:0001583	missense	259294				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11174550C>A	AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19108	protein-coding gene	gene with protein product		613961	"""taste receptor, type 2, member 48"", ""taste receptor, type 2, member 23"""	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.621G>T	12.37:g.11174550C>A	ENSP00000375091:p.Lys207Asn					PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.K207N	NM_176888	NP_795369	P59542	T2R19_HUMAN			1	621	-			207			Cytoplasmic (Potential).		Q3MIJ4|Q645X8	Missense_Mutation	SNP	ENST00000390673.2	37	c.621G>T	CCDS8640.1	.	.	.	.	.	.	.	.	.	.	g	9.214	1.031692	0.19590	.	.	ENSG00000212124	ENST00000390673	T	0.00976	5.48	2.69	1.78	0.24846	.	0.534882	0.14729	U	0.301891	T	0.04543	0.0124	H	0.95437	3.67	0.09310	N	1	B	0.26902	0.163	B	0.40477	0.33	T	0.04242	-1.0966	10	0.72032	D	0.01	.	8.5337	0.33351	0.0:0.87:0.0:0.13	.	207	P59542	T2R19_HUMAN	N	207	ENSP00000375091:K207N	ENSP00000375091:K207N	K	-	3	2	TAS2R19	11065817	0.000000	0.05858	0.126000	0.21872	0.060000	0.15804	-0.203000	0.09438	0.397000	0.25310	-1.111000	0.02071	AAG		PASS	0.403	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370080.1	NM_176888		10	219	10	219	---	---	---	---
TAS2R19	259294	broad.mit.edu	37	12	11174583	11174583	+	Silent	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr12:11174583C>T	ENST00000390673.2	-	1	636	c.588G>A	c.(586-588)ctG>ctA	p.L196L	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	196					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L196L(1)		breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						AGATTAACAGCAGAAAACATA	0.398																																						uc010shj.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(586-588)CTG>CTA		taste receptor, type 2, member 19							149.0	144.0	146.0					12																	11174583		2203	4300	6503	SO:0001819	synonymous_variant	259294				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11174583C>T	AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19108	protein-coding gene	gene with protein product		613961	"""taste receptor, type 2, member 48"", ""taste receptor, type 2, member 23"""	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.588G>A	12.37:g.11174583C>T						PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.L196L	NM_176888	NP_795369	P59542	T2R19_HUMAN			1	588	-			196			Helical; Name=5; (Potential).		Q3MIJ4|Q645X8	Silent	SNP	ENST00000390673.2	37	c.588G>A	CCDS8640.1																																																																																				PASS	0.398	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370080.1	NM_176888		7	211	7	211	---	---	---	---
ABCC9	10060	broad.mit.edu	37	12	22061137	22061137	+	Missense_Mutation	SNP	C	C	A	rs151197166	byFrequency	TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr12:22061137C>A	ENST00000261201.4	-	9	1328	c.1329G>T	c.(1327-1329)atG>atT	p.M443I	ABCC9_ENST00000261200.4_Missense_Mutation_p.M443I|ABCC9_ENST00000345162.2_Missense_Mutation_p.M443I	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	443	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.M443I(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GAATCACGCCCATTATGATCT	0.393																																						uc001rfi.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(1327-1329)ATG>ATT		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						55.0	51.0	52.0					12																	22061137		2203	4299	6502	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22061137C>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.1329G>T	12.37:g.22061137C>A	ENSP00000261201:p.Met443Ile					ABCC9_uc001rfh.2_Missense_Mutation_p.M443I|ABCC9_uc001rfj.1_Missense_Mutation_p.M443I	p.M443I	NM_005691	NP_005682	O60706	ABCC9_HUMAN			9	1349	-			443			ABC transmembrane type-1 1.|Helical; Name=8; (Potential).		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.1329G>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551607	0.65311	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27	5.29	5.29	0.74685	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.073127	0.85682	D	0.000000	T	0.74336	0.3703	N	0.02357	-0.585	0.80722	D	1	B;B	0.14012	0.009;0.006	B;B	0.17098	0.017;0.008	T	0.69049	-0.5248	10	0.41790	T	0.15	-29.6836	19.1338	0.93418	0.0:1.0:0.0:0.0	.	443;443	O60706;O60706-2	ABCC9_HUMAN;.	I	443;106;443;443	ENSP00000261200:M443I;ENSP00000440521:M106I;ENSP00000261201:M443I;ENSP00000261202:M443I	ENSP00000261200:M443I	M	-	3	0	ABCC9	21952404	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.729000	0.62008	2.752000	0.94435	0.655000	0.94253	ATG		PASS	0.393	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		19	33	19	33	---	---	---	---
SOX5	6660	broad.mit.edu	37	12	23699316	23699316	+	Nonsense_Mutation	SNP	T	T	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr12:23699316T>A	ENST00000451604.2	-	12	1632	c.1531A>T	c.(1531-1533)Aaa>Taa	p.K511*	SOX5_ENST00000309359.1_Nonsense_Mutation_p.K498*|SOX5_ENST00000541536.1_Nonsense_Mutation_p.K390*|SOX5_ENST00000381381.2_Nonsense_Mutation_p.K390*|SOX5_ENST00000537393.1_Nonsense_Mutation_p.K476*|SOX5_ENST00000396007.2_Nonsense_Mutation_p.K125*|SOX5_ENST00000545921.1_Nonsense_Mutation_p.K501*|SOX5_ENST00000546136.1_Nonsense_Mutation_p.K498*			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	511					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.K511*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TCATTCTGTTTAACTGCCAGT	0.313																																						uc001rfw.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|lung(1)	6						c.(1531-1533)AAA>TAA		SRY (sex determining region Y)-box 5 isoform a							165.0	155.0	158.0					12																	23699316		2203	4300	6503	SO:0001587	stop_gained	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23699316T>A	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1531A>T	12.37:g.23699316T>A	ENSP00000398273:p.Lys511*					SOX5_uc001rfx.2_Nonsense_Mutation_p.K498*|SOX5_uc001rfy.2_Nonsense_Mutation_p.K390*|SOX5_uc001rfv.2_Nonsense_Mutation_p.K125*|SOX5_uc010siv.1_Nonsense_Mutation_p.K498*|SOX5_uc010siw.1_Intron|SOX5_uc001rfz.1_Nonsense_Mutation_p.K463*	p.K511*	NM_006940	NP_008871	P35711	SOX5_HUMAN			12	1633	-			511			Potential.		B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Nonsense_Mutation	SNP	ENST00000451604.2	37	c.1531A>T	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	T	39	7.627825	0.98399	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000396007;ENST00000545921	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.192	0.81996	0.0:0.0:0.0:1.0	.	.	.	.	X	498;498;390;511;463;476;390;125;501	.	ENSP00000308927:K498X	K	-	1	0	SOX5	23590583	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.226000	0.78060	2.229000	0.72834	0.482000	0.46254	AAA		PASS	0.313	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		83	112	83	112	---	---	---	---
KIAA1551	55196	broad.mit.edu	37	12	32135892	32135892	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr12:32135892G>T	ENST00000312561.4	+	4	2417	c.2003G>T	c.(2002-2004)tGt>tTt	p.C668F	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	668								p.C668F(1)									GACAGTAGCTGTTCCATGGAA	0.423																																						uc001rks.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2002-2004)TGT>TTT		hypothetical protein LOC55196							71.0	66.0	68.0					12																	32135892		2203	4299	6502	SO:0001583	missense	55196							g.chr12:32135892G>T	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.2003G>T	12.37:g.32135892G>T	ENSP00000310338:p.Cys668Phe						p.C668F	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		4	2417	+	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)		668					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.2003G>T	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.238674	0.00274	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.05081	4.0;3.5	5.6	1.02	0.19986	.	0.574926	0.17088	N	0.187483	T	0.02571	0.0078	N	0.05510	-0.035	0.27815	N	0.942002	B	0.16802	0.019	B	0.16289	0.015	T	0.44390	-0.9331	9	.	.	.	.	4.0091	0.09615	0.2353:0.0:0.4239:0.3408	.	668	Q9HCM1	CL035_HUMAN	F	668	ENSP00000310338:C668F;ENSP00000370442:C668F	.	C	+	2	0	C12orf35	32027159	0.950000	0.32346	0.602000	0.28890	0.091000	0.18340	0.408000	0.21065	0.271000	0.22005	-0.253000	0.11424	TGT		PASS	0.423	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		23	28	23	28	---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40657693	40657693	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr12:40657693C>A	ENST00000298910.7	+	14	1704	c.1646C>A	c.(1645-1647)gCt>gAt	p.A549D	LRRK2_ENST00000343742.2_Missense_Mutation_p.A549D	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	549					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.A549D(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTCCTAGCAGCTTTGAACAGG	0.323																																						uc001rmg.3																			2	Substitution - Missense(2)		lung(2)	ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(1645-1647)GCT>GAT		leucine-rich repeat kinase 2							80.0	83.0	82.0					12																	40657693		2203	4299	6502	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40657693C>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.1646C>A	12.37:g.40657693C>A	ENSP00000298910:p.Ala549Asp					LRRK2_uc001rmh.1_Missense_Mutation_p.A171D	p.A549D	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			14	1767	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	549					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.1646C>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195767	0.58126	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.66638	-0.22;1.27;1.27	5.9	5.9	0.94986	Armadillo-like helical (1);Armadillo-type fold (1);	0.246207	0.41001	D	0.000973	T	0.70727	0.3257	L	0.56769	1.78	0.40643	D	0.981961	D;P	0.54047	0.964;0.892	P;P	0.47981	0.563;0.526	T	0.75079	-0.3444	10	0.87932	D	0	.	17.1955	0.86891	0.0:1.0:0.0:0.0	.	549;549	E9PC85;Q5S007	.;LRRK2_HUMAN	D	297;549;549	ENSP00000398726:A297D;ENSP00000341930:A549D;ENSP00000298910:A549D	ENSP00000298910:A549D	A	+	2	0	LRRK2	38943960	0.999000	0.42202	0.907000	0.35723	0.870000	0.49936	3.204000	0.51082	2.798000	0.96311	0.650000	0.86243	GCT		PASS	0.323	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		23	48	23	48	---	---	---	---
H1FNT	341567	broad.mit.edu	37	12	48723172	48723172	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr12:48723172G>A	ENST00000335017.1	+	1	410	c.98G>A	c.(97-99)cGa>cAa	p.R33Q		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	33					chromosome condensation (GO:0030261)|multicellular organismal development (GO:0007275)|sperm chromatin condensation (GO:0035092)|spermatid nucleus elongation (GO:0007290)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.R33Q(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						GGCGAATCCCGAGGACACTCA	0.657																																						uc001rrm.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(97-99)CGA>CAA		H1 histone family, member N, testis-specific							29.0	33.0	32.0					12																	48723172		2203	4299	6502	SO:0001583	missense	341567				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding	g.chr12:48723172G>A	AY302593	CCDS8762.1	12q13.11	2011-01-27				ENSG00000187166		"""Histones / Replication-independent"""	24893	protein-coding gene	gene with protein product						15710904	Standard	NM_181788		Approved	HANP1, H1T2	uc001rrm.3	Q75WM6		ENST00000335017.1:c.98G>A	12.37:g.48723172G>A	ENSP00000334805:p.Arg33Gln						p.R33Q	NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN			1	410	+			33					Q147U8|Q5GKZ5|Q7Z694	Missense_Mutation	SNP	ENST00000335017.1	37	c.98G>A	CCDS8762.1	.	.	.	.	.	.	.	.	.	.	G	9.491	1.100652	0.20552	.	.	ENSG00000187166	ENST00000335017	T	0.15718	2.4	5.03	-0.604	0.11626	.	.	.	.	.	T	0.05502	0.0145	N	0.05078	-0.115	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.42050	-0.9474	9	0.07813	T	0.8	-0.0031	3.171	0.06552	0.4965:0.0:0.3014:0.2021	.	33	Q75WM6	H1FNT_HUMAN	Q	33	ENSP00000334805:R33Q	ENSP00000334805:R33Q	R	+	2	0	H1FNT	47009439	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.204000	0.17335	-0.060000	0.13132	-1.124000	0.02001	CGA		PASS	0.657	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406516.1	NM_181788		5	28	5	28	---	---	---	---
ZNF385A	25946	broad.mit.edu	37	12	54767862	54767862	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr12:54767862C>G	ENST00000338010.5	-	4	369	c.316G>C	c.(316-318)Gag>Cag	p.E106Q	ZNF385A_ENST00000551771.1_Missense_Mutation_p.E86Q|ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000551109.1_Missense_Mutation_p.E86Q|ZNF385A_ENST00000546970.1_Missense_Mutation_p.E86Q|RP11-753H16.5_ENST00000552785.1_RNA|ZNF385A_ENST00000394313.2_Missense_Mutation_p.E86Q|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000352268.6_Missense_Mutation_p.E106Q	NM_001130967.1	NP_001124439.1	Q96PM9	Z385A_HUMAN	zinc finger protein 385A	106					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|hemostasis (GO:0007599)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)|positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:1902164)|positive regulation of fat cell differentiation (GO:0045600)|regulation of cytoplasmic translation (GO:2000765)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E86Q(2)|p.E106Q(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						TTGGCAGCCTCAATGCCTTTG	0.587																																						uc001sfw.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(256-258)GAG>CAG		zinc finger protein 385A isoform c							92.0	76.0	82.0					12																	54767862		2203	4300	6503	SO:0001583	missense	25946				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr12:54767862C>G	AF304052	CCDS8879.1, CCDS44910.1, CCDS44911.1	12q13.13	2012-10-05	2007-12-06	2007-12-06		ENSG00000161642			17521	protein-coding gene	gene with protein product		609124	"""zinc finger protein 385"""	ZNF385			Standard	XM_005268785		Approved	DKFZp586G1122, Hzf, ZFP385	uc001sfy.3	Q96PM9	OTTHUMG00000169840	ENST00000338010.5:c.316G>C	12.37:g.54767862C>G	ENSP00000338927:p.Glu106Gln					ZNF385A_uc001sfv.1_Missense_Mutation_p.E67Q|ZNF385A_uc009zno.1_RNA|ZNF385A_uc010sov.1_Missense_Mutation_p.E86Q|ZNF385A_uc001sfx.1_Missense_Mutation_p.E86Q|ZNF385A_uc001sfy.3_Missense_Mutation_p.E106Q|ZNF385A_uc001sfz.3_Missense_Mutation_p.E106Q	p.E86Q	NM_015481	NP_056296	Q96PM9	Z385A_HUMAN			3	439	-			86					B2RDN5|B4DKH2|F1T0F1|J3KNS3|Q5VH53|Q9H7R6|Q9UFU3	Missense_Mutation	SNP	ENST00000338010.5	37	c.256G>C	CCDS44911.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591455	0.86851	.	.	ENSG00000161642	ENST00000551109;ENST00000352268;ENST00000394313;ENST00000338010;ENST00000546970;ENST00000551771;ENST00000546919;ENST00000549937;ENST00000549962;ENST00000547210;ENST00000550774;ENST00000550120	T;T;T;T;T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	4.02	4.02	0.46733	.	0.000000	0.85682	D	0.000000	T	0.48429	0.1499	N	0.24115	0.695	0.46061	D	0.998849	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.999	D;D;D;D;D	0.91635	0.994;0.999;0.999;0.994;0.994	T	0.43605	-0.9381	10	0.35671	T	0.21	-14.1557	14.0455	0.64702	0.0:1.0:0.0:0.0	.	86;86;86;86;86	Q96PM9-2;F8VSJ1;F8VRY0;Q96PM9;F1T0F1	.;.;.;Z385A_HUMAN;.	Q	86;106;86;106;86;86;86;68;69;86;86;49	ENSP00000449161:E86Q;ENSP00000293385:E106Q;ENSP00000377849:E86Q;ENSP00000338927:E106Q;ENSP00000446913:E86Q;ENSP00000447162:E86Q;ENSP00000448466:E86Q;ENSP00000448567:E68Q;ENSP00000450149:E69Q;ENSP00000448264:E86Q;ENSP00000449462:E86Q;ENSP00000448754:E49Q	ENSP00000338927:E106Q	E	-	1	0	ZNF385A	53054129	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.224000	0.78042	2.251000	0.74343	0.561000	0.74099	GAG		PASS	0.587	ZNF385A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406162.1	NM_015481		10	53	10	53	---	---	---	---
OR6C1	390321	broad.mit.edu	37	12	55714515	55714515	+	Silent	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr12:55714515C>A	ENST00000379668.2	+	1	170	c.132C>A	c.(130-132)atC>atA	p.I44I		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I44I(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TGACCCTTATCACAATTACCC	0.433																																						uc010spi.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(130-132)ATC>ATA		olfactory receptor, family 6, subfamily C,							71.0	70.0	71.0					12																	55714515		2203	4300	6503	SO:0001819	synonymous_variant	390321				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55714515C>A	AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"""GPCR / Class A : Olfactory receptors"""	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.132C>A	12.37:g.55714515C>A							p.I44I	NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN			1	132	+			44			Helical; Name=1; (Potential).		B2RNM0	Silent	SNP	ENST00000379668.2	37	c.132C>A	CCDS31818.1																																																																																				PASS	0.433	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398152.1	NM_001005182		50	73	50	73	---	---	---	---
NUP107	57122	broad.mit.edu	37	12	69085841	69085841	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr12:69085841G>C	ENST00000229179.4	+	5	729	c.397G>C	c.(397-399)Gat>Cat	p.D133H	NUP107_ENST00000378905.2_Intron|NUP107_ENST00000539906.1_Missense_Mutation_p.D104H	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	133					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 complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)	p.D133H(1)	NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TATAACAGAAGATGTAACTAT	0.428																																						uc001suf.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(397-399)GAT>CAT		nucleoporin 107kDa							142.0	125.0	130.0					12																	69085841		2203	4300	6503	SO:0001583	missense	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69085841G>C	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.397G>C	12.37:g.69085841G>C	ENSP00000229179:p.Asp133His					NUP107_uc001sug.2_Intron|NUP107_uc010stj.1_Missense_Mutation_p.D104H	p.D133H	NM_020401	NP_065134	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		5	512	+	Breast(13;6.25e-06)		133					B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	c.397G>C	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807584	0.70797	.	.	ENSG00000111581	ENST00000229179;ENST00000539906;ENST00000538549	.	.	.	5.36	5.36	0.76844	.	0.043939	0.85682	D	0.000000	T	0.65913	0.2737	L	0.36672	1.1	0.80722	D	1	D;D	0.71674	0.997;0.998	P;D	0.63381	0.868;0.914	T	0.62039	-0.6938	8	.	.	.	-15.0493	18.2465	0.89988	0.0:0.0:1.0:0.0	.	104;133	B4DZ67;P57740	.;NU107_HUMAN	H	133;104;33	.	.	D	+	1	0	NUP107	67372108	1.000000	0.71417	0.939000	0.37840	0.535000	0.34838	7.072000	0.76777	2.687000	0.91594	0.462000	0.41574	GAT		PASS	0.428	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401		18	85	18	85	---	---	---	---
ZFC3H1	196441	broad.mit.edu	37	12	72036236	72036237	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr12:72036236_72036237TC>AA	ENST00000378743.3	-	6	1964_1965	c.1606_1607GA>TT	c.(1606-1608)GAt>TTt	p.D536F	SNORA17_ENST00000391159.1_RNA	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	536					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.D536Y(1)|p.D536V(1)|p.D536F(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GGTTTCACTATCTGTATCCATA	0.366																																						uc001swo.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(1606-1608)GAT>GTT|c.(1606-1608)GAT>TAT		proline/serine-rich coiled-coil 2																																				SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72036236T>A|g.chr12:72036237C>A	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.1606_1607delinsAA	12.37:g.72036236_72036237delinsAA	ENSP00000368017:p.Asp536Phe						p.D536V|p.D536Y	NM_144982	NP_659419	O60293	ZC3H1_HUMAN			6	1966|1965	-			536					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.1607A>T|c.1606G>T	CCDS41813.1																																																																																				PASS	0.366	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		22	109	22	109	---	---	---	---
RAB21	23011	broad.mit.edu	37	12	72149021	72149021	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr12:72149021C>T	ENST00000261263.3	+	1	368	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C		NM_014999.2	NP_055814.1	Q9UL25	RAB21_HUMAN	RAB21, member RAS oncogene family	38					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R38C(1)		large_intestine(1)|lung(4)|prostate(1)	6						GCTGGTGCTGCGCTACTGCGA	0.716																																						uc001swt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(112-114)CGC>TGC		RAB21, member RAS oncogene family							46.0	33.0	37.0					12																	72149021		2203	4295	6498	SO:0001583	missense	23011				protein transport|small GTPase mediated signal transduction	cleavage furrow|cytoplasmic vesicle membrane|early endosome membrane|endoplasmic reticulum membrane|Golgi membrane	GDP binding|GTP binding|GTPase activity|protein binding	g.chr12:72149021C>T	AF091035	CCDS9003.1	12q21.1	2014-09-04			ENSG00000080371	ENSG00000080371		"""RAB, member RAS oncogene"""	18263	protein-coding gene	gene with protein product		612398				10887961, 11697911, 16754960	Standard	NM_014999		Approved	KIAA0118	uc001swt.3	Q9UL25	OTTHUMG00000169572	ENST00000261263.3:c.112C>T	12.37:g.72149021C>T	ENSP00000261263:p.Arg38Cys						p.R38C	NM_014999	NP_055814	Q9UL25	RAB21_HUMAN			1	364	+			38					Q14466|Q569H3	Missense_Mutation	SNP	ENST00000261263.3	37	c.112C>T	CCDS9003.1	.	.	.	.	.	.	.	.	.	.	C	34	5.401984	0.96030	.	.	ENSG00000080371	ENST00000261263	T	0.79653	-1.29	3.89	3.89	0.44902	Small GTP-binding protein domain (1);	0.128864	0.50627	N	0.000102	D	0.91727	0.7384	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93976	0.7254	10	0.72032	D	0.01	-14.2012	16.4048	0.83656	0.0:1.0:0.0:0.0	.	38	Q9UL25	RAB21_HUMAN	C	38	ENSP00000261263:R38C	ENSP00000261263:R38C	R	+	1	0	RAB21	70435288	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.104000	0.50306	2.162000	0.67917	0.557000	0.71058	CGC		PASS	0.716	RAB21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404855.1			5	10	5	10	---	---	---	---
TPH2	121278	broad.mit.edu	37	12	72338186	72338186	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr12:72338186T>C	ENST00000333850.3	+	3	509	c.368T>C	c.(367-369)aTt>aCt	p.I123T	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	123	ACT. {ECO:0000255|PROSITE- ProRule:PRU01007}.				aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)	p.I123T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	AATGAGCTCATTCAGTTGCTG	0.433																																						uc009zrw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(367-369)ATT>ACT		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						159.0	153.0	155.0					12																	72338186		2203	4300	6503	SO:0001583	missense	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72338186T>C	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.368T>C	12.37:g.72338186T>C	ENSP00000329093:p.Ile123Thr					TPH2_uc001swy.2_Missense_Mutation_p.I33T	p.I123T	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN			3	509	+			123			ACT.		A6NGA4|Q14CB0	Missense_Mutation	SNP	ENST00000333850.3	37	c.368T>C	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	T	16.33	3.094002	0.56075	.	.	ENSG00000139287	ENST00000333850;ENST00000266669	D	0.98512	-4.97	5.53	5.53	0.82687	.	0.265541	0.39341	N	0.001396	D	0.95971	0.8688	L	0.35723	1.085	0.45439	D	0.99841	B	0.10296	0.003	B	0.29176	0.099	D	0.93196	0.6587	10	0.39692	T	0.17	-13.4	11.0938	0.48132	0.1381:0.0:0.0:0.8619	.	123	Q8IWU9	TPH2_HUMAN	T	123	ENSP00000329093:I123T	ENSP00000266669:I123T	I	+	2	0	TPH2	70624453	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.788000	0.69020	2.240000	0.73641	0.528000	0.53228	ATT		PASS	0.433	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		60	97	60	97	---	---	---	---
SYT1	6857	broad.mit.edu	37	12	79685839	79685839	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr12:79685839G>C	ENST00000261205.4	+	6	1060	c.403G>C	c.(403-405)Gaa>Caa	p.E135Q	SYT1_ENST00000457153.2_Missense_Mutation_p.E132Q|SYT1_ENST00000393240.3_Missense_Mutation_p.E135Q|SYT1_ENST00000552744.1_Missense_Mutation_p.E135Q	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	135					calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)	p.E135Q(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						AGAAGAAAAAGAAGAACCCAA	0.373																																						uc001sys.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|pancreas(2)|ovary(1)	6						c.(403-405)GAA>CAA		synaptotagmin I							122.0	134.0	130.0					12																	79685839		2203	4300	6503	SO:0001583	missense	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79685839G>C		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.403G>C	12.37:g.79685839G>C	ENSP00000261205:p.Glu135Gln					SYT1_uc001syt.2_Missense_Mutation_p.E135Q|SYT1_uc001syu.2_Missense_Mutation_p.E132Q|SYT1_uc001syv.2_Missense_Mutation_p.E135Q	p.E135Q	NM_001135805	NP_001129277	P21579	SYT1_HUMAN			7	1074	+			135			Cytoplasmic (Potential).		Q6AI31	Missense_Mutation	SNP	ENST00000261205.4	37	c.403G>C	CCDS9017.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.55|19.55	3.848567|3.848567	0.71603|0.71603	.|.	.|.	ENSG00000067715|ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552744;ENST00000552624;ENST00000446242|ENST00000549559	T;T;T;T;T;T|T	0.08282|0.17370	3.11;3.11;3.11;3.11;3.11;3.11|2.28	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	0.204895|.	0.49916|.	D|.	0.000124|.	T|T	0.26991|0.26991	0.0661|0.0661	L|L	0.43701|0.43701	1.375|1.375	0.58432|0.58432	D|D	0.999998|0.999998	B;B|.	0.17852|.	0.024;0.024|.	B;B|.	0.14578|.	0.011;0.011|.	T|T	0.00891|0.00891	-1.1525|-1.1525	10|7	0.30078|0.18276	T|T	0.28|0.48	.|.	19.5366|19.5366	0.95255|0.95255	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	135;135|.	Q6AI31;P21579|.	.;SYT1_HUMAN|.	Q|N	135;135;132;135;132;135|36	ENSP00000376932:E135Q;ENSP00000261205:E135Q;ENSP00000391056:E132Q;ENSP00000447575:E135Q;ENSP00000448861:E132Q;ENSP00000401559:E135Q|ENSP00000449415:K36N	ENSP00000261205:E135Q|ENSP00000449415:K36N	E|K	+|+	1|3	0|2	SYT1|SYT1	78209970|78209970	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.939000|7.939000	0.87685|0.87685	2.617000|2.617000	0.88574|0.88574	0.585000|0.585000	0.79938|0.79938	GAA|AAG		PASS	0.373	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639		18	71	18	71	---	---	---	---
LRRIQ1	84125	broad.mit.edu	37	12	85546834	85546834	+	Silent	SNP	A	A	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr12:85546834A>T	ENST00000393217.2	+	21	4513	c.4452A>T	c.(4450-4452)tcA>tcT	p.S1484S		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1484								p.S1484S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATGATACTTCATTTAATTTAC	0.284																																						uc001tac.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4450-4452)TCA>TCT		leucine-rich repeats and IQ motif containing 1							76.0	72.0	73.0					12																	85546834		1811	4054	5865	SO:0001819	synonymous_variant	84125							g.chr12:85546834A>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4452A>T	12.37:g.85546834A>T							p.S1484S	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	21	4563	+			1484					Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.4452A>T	CCDS41816.1																																																																																				PASS	0.284	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		51	89	51	89	---	---	---	---
TMTC3	160418	broad.mit.edu	37	12	88588962	88588962	+	Missense_Mutation	SNP	G	G	C	rs371632026		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr12:88588962G>C	ENST00000266712.6	+	14	2501	c.2281G>C	c.(2281-2283)Gaa>Caa	p.E761Q		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	762					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)		p.E761Q(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AAAATGTTTTGAAAGGATTTT	0.333																																						uc001tau.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2281-2283)GAA>CAA		transmembrane and tetratricopeptide repeat							50.0	54.0	53.0					12																	88588962		2201	4299	6500	SO:0001583	missense	160418					integral to membrane	binding	g.chr12:88588962G>C		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.2281G>C	12.37:g.88588962G>C	ENSP00000266712:p.Glu761Gln						p.E761Q	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN			14	2501	+			762			TPR 9.		Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	ENST00000266712.6	37	c.2281G>C	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.418836	0.42918	.	.	ENSG00000139324	ENST00000266712	T	0.67345	-0.26	5.69	5.69	0.88448	.	0.045207	0.85682	D	0.000000	T	0.60792	0.2296	L	0.38838	1.175	0.53688	D	0.999979	B	0.22003	0.063	B	0.25506	0.061	T	0.53704	-0.8401	10	0.24483	T	0.36	-23.5101	19.7954	0.96478	0.0:0.0:1.0:0.0	.	761	Q6ZXV5-2	.	Q	761	ENSP00000266712:E761Q	ENSP00000266712:E761Q	E	+	1	0	TMTC3	87113093	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.710000	0.54860	2.685000	0.91497	0.591000	0.81541	GAA		PASS	0.333	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		24	71	24	71	---	---	---	---
TMTC3	160418	broad.mit.edu	37	12	88589107	88589107	+	Missense_Mutation	SNP	G	G	A	rs111307435	byFrequency	TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr12:88589107G>A	ENST00000266712.6	+	14	2646	c.2426G>A	c.(2425-2427)cGc>cAc	p.R809H		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	810					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)		p.R809H(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TATATTCAGCGCCATTTGAAT	0.338													G|||	20	0.00399361	0.0	0.0072	5008	,	,		17445	0.0		0.0109	False		,,,				2504	0.0041					uc001tau.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2425-2427)CGC>CAC		transmembrane and tetratricopeptide repeat		G	HIS/ARG	9,4397	15.5+/-35.6	0,9,2194	75.0	80.0	78.0		2426	5.7	1.0	12	dbSNP_132	78	124,8474	63.5+/-125.6	1,122,4176	yes	missense	TMTC3	NM_181783.3	29	1,131,6370	AA,AG,GG		1.4422,0.2043,1.0228	possibly-damaging	809/915	88589107	133,12871	2203	4299	6502	SO:0001583	missense	160418					integral to membrane	binding	g.chr12:88589107G>A		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.2426G>A	12.37:g.88589107G>A	ENSP00000266712:p.Arg809His						p.R809H	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN			14	2646	+			810					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	ENST00000266712.6	37	c.2426G>A	CCDS9032.1	9	0.004120879120879121	0	0.0	2	0.0055248618784530384	0	0.0	7	0.009234828496042216	G	26.5	4.739968	0.89573	0.002043	0.014422	ENSG00000139324	ENST00000266712	T	0.63255	-0.03	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.61110	0.2321	M	0.66939	2.045	0.80722	D	1	P	0.50710	0.938	P	0.46208	0.507	T	0.67158	-0.5741	10	0.45353	T	0.12	-6.5133	19.7954	0.96478	0.0:0.0:1.0:0.0	.	809	Q6ZXV5-2	.	H	809	ENSP00000266712:R809H	ENSP00000266712:R809H	R	+	2	0	TMTC3	87113238	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.540000	0.98080	2.685000	0.91497	0.591000	0.81541	CGC		PASS	0.338	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		51	82	51	82	---	---	---	---
SLC17A8	246213	broad.mit.edu	37	12	100813710	100813710	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr12:100813710C>G	ENST00000323346.5	+	12	1856	c.1543C>G	c.(1543-1545)Ctc>Gtc	p.L515V	SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Missense_Mutation_p.L465V	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	515					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.L515V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CCCAGAGAATCTCTCTGAGGA	0.468																																						uc010svi.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1543-1545)CTC>GTC		solute carrier family 17 (sodium-dependent							66.0	72.0	70.0					12																	100813710		2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100813710C>G	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1543C>G	12.37:g.100813710C>G	ENSP00000316909:p.Leu515Val					SLC17A8_uc009ztx.2_Missense_Mutation_p.L465V	p.L515V	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN			12	1856	+			515			Cytoplasmic (Potential).		B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.1543C>G	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	C	2.012	-0.426902	0.04701	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.69040	0.06;-0.37	5.18	4.26	0.50523	Major facilitator superfamily domain, general substrate transporter (1);	0.284658	0.34603	N	0.003834	T	0.55481	0.1923	L	0.33668	1.02	0.37577	D	0.919672	B;B	0.31485	0.071;0.325	B;B	0.29862	0.045;0.108	T	0.57300	-0.7835	10	0.28530	T	0.3	.	15.7489	0.77967	0.0:0.8629:0.1371:0.0	.	515;465	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	V	515;465	ENSP00000316909:L515V;ENSP00000376715:L465V	ENSP00000316909:L515V	L	+	1	0	SLC17A8	99337841	0.068000	0.21057	0.271000	0.24616	0.989000	0.77384	1.620000	0.36976	1.266000	0.44231	0.591000	0.81541	CTC		PASS	0.468	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		12	68	12	68	---	---	---	---
ATP2A2	488	broad.mit.edu	37	12	110783838	110783838	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr12:110783838C>G	ENST00000539276.2	+	19	2883	c.2774C>G	c.(2773-2775)cCc>cGc	p.P925R	ATP2A2_ENST00000308664.6_Missense_Mutation_p.P925R|ATP2A2_ENST00000395494.2_Missense_Mutation_p.P898R			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	925					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)	p.P925R(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CTGAGGATGCCCCCCTGGGAG	0.577																																						uc001tqk.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2773-2775)CCC>CGC		ATPase, Ca++ transporting, slow twitch 2 isoform							171.0	138.0	149.0					12																	110783838		2203	4300	6503	SO:0001583	missense	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110783838C>G		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.2774C>G	12.37:g.110783838C>G	ENSP00000440045:p.Pro925Arg					ATP2A2_uc001tql.3_Missense_Mutation_p.P925R|ATP2A2_uc010sxy.1_Missense_Mutation_p.P898R|ATP2A2_uc001tqn.3_Missense_Mutation_p.P2R|ATP2A2_uc009zvn.2_5'Flank	p.P925R	NM_170665	NP_733765	P16615	AT2A2_HUMAN			19	3337	+			925			Cytoplasmic (By similarity).		A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	c.2774C>G	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956862	0.73902	.	.	ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276	D;D;D	0.88277	-2.36;-2.36;-2.36	6.17	6.17	0.99709	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95689	0.8598	M	0.89785	3.06	0.80722	D	1	D;D;D	0.67145	0.991;0.987;0.996	D;P;D	0.67231	0.915;0.863;0.95	D	0.95125	0.8250	10	0.59425	D	0.04	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	898;925;925	P16615-4;P16615-2;P16615	.;.;AT2A2_HUMAN	R	925;898;925	ENSP00000311186:P925R;ENSP00000378872:P898R;ENSP00000440045:P925R	ENSP00000311186:P925R	P	+	2	0	ATP2A2	109268221	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CCC		PASS	0.577	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		65	107	65	107	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132537712	132537712	+	Silent	SNP	G	G	A	rs141540187	byFrequency	TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr12:132537712G>A	ENST00000333577.4	+	43	7633	c.7524G>A	c.(7522-7524)ccG>ccA	p.P2508P	EP400_ENST00000389561.2_Silent_p.P2472P|EP400_ENST00000389562.2_Silent_p.P2471P|EP400_ENST00000330386.6_Silent_p.P2391P|EP400_ENST00000332482.4_Silent_p.P2435P			Q96L91	EP400_HUMAN	E1A binding protein p400	2508					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.P2471P(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ATGACAAGCCGCTGCCTCCCA	0.493													G|||	4	0.000798722	0.003	0.0	5008	,	,		15768	0.0		0.0	False		,,,				2504	0.0					uc001ujn.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(7414-7416)CCG>CCA		E1A binding protein p400		G		7,4399	12.9+/-30.5	0,7,2196	137.0	133.0	134.0		7416	-10.2	0.3	12	dbSNP_134	134	0,8600		0,0,4300	no	coding-synonymous	EP400	NM_015409.4		0,7,6496	AA,AG,GG		0.0,0.1589,0.0538		2472/3124	132537712	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132537712G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.7524G>A	12.37:g.132537712G>A						EP400_uc001ujl.2_Silent_p.P2471P|EP400_uc001ujm.2_Silent_p.P2391P	p.P2472P	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	41	7451	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2508					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.7416G>A																																																																																					PASS	0.493	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		11	122	11	122	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133256810	133256810	+	Splice_Site	SNP	T	T	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr12:133256810T>A	ENST00000320574.5	-	4	329		c.e4-2		POLE_ENST00000535270.1_Splice_Site	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit						base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.?(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CAAAGCCACCTGTTAAGAGTC	0.468								DNA polymerases (catalytic subunits)																														uc001uks.1																			2	Unknown(2)		lung(2)	ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.e4-1	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon							87.0	84.0	85.0					12																	133256810		2203	4300	6503	SO:0001630	splice_region_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133256810T>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.286-2A>T	12.37:g.133256810T>A						POLE_uc010tbq.1_Splice_Site|POLE_uc009zyu.1_Splice_Site_p.V69_splice	p.V96_splice	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	4	330	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)						Q13533|Q86VH9	Splice_Site	SNP	ENST00000320574.5	37	c.286_splice	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.108502	0.77096	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000376577	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.642	0.77012	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	POLE	131766883	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	7.678000	0.84035	2.106000	0.64143	0.460000	0.39030	.		PASS	0.468	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231	Intron	41	64	41	64	---	---	---	---
NUPL1	9818	broad.mit.edu	37	13	25914196	25914196	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr13:25914196C>G	ENST00000381736.3	+	16	1974	c.1724C>G	c.(1723-1725)tCt>tGt	p.S575C	NUPL1_ENST00000381718.3_Missense_Mutation_p.S563C	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	575	14 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)	p.S575C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		AATCCTGCCTCTGCAGGTTTT	0.458																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)	uc001uqi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1723-1725)TCT>TGT		nucleoporin like 1 isoform a							135.0	126.0	129.0					13																	25914196		2203	4300	6503	SO:0001583	missense	9818				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore		g.chr13:25914196C>G	AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.1724C>G	13.37:g.25914196C>G	ENSP00000371155:p.Ser575Cys					NUPL1_uc001uqj.2_Missense_Mutation_p.S563C	p.S575C	NM_014089	NP_054808	Q9BVL2	NUPL1_HUMAN		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)	16	1970	+		Lung SC(185;0.0225)|Breast(139;0.0351)	575			14 X 2 AA repeats of F-G.		A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP	ENST00000381736.3	37	c.1724C>G	CCDS9314.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136749	0.77662	.	.	ENSG00000139496	ENST00000381736;ENST00000313619;ENST00000381718	T;T	0.34275	1.39;1.37	5.96	5.96	0.96718	.	0.191641	0.56097	D	0.000022	T	0.53222	0.1783	L	0.40543	1.245	0.58432	D	0.999994	D;D	0.76494	0.999;0.999	D;D	0.64595	0.927;0.927	T	0.51060	-0.8753	10	0.87932	D	0	-19.8965	20.422	0.99049	0.0:1.0:0.0:0.0	.	563;575	A6NI12;Q9BVL2	.;NUPL1_HUMAN	C	575;552;563	ENSP00000371155:S575C;ENSP00000371137:S563C	ENSP00000318459:S552C	S	+	2	0	NUPL1	24812196	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.524000	0.60552	2.832000	0.97577	0.655000	0.94253	TCT		PASS	0.458	NUPL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044228.2			4	129	4	129	---	---	---	---
GPR183	1880	broad.mit.edu	37	13	99948238	99948238	+	Silent	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr13:99948238G>A	ENST00000376414.4	-	2	245	c.162C>T	c.(160-162)gtC>gtT	p.V54V	UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	54					G-protein coupled receptor signaling pathway (GO:0007186)|humoral immune response (GO:0006959)|immune response (GO:0006955)|mature B cell differentiation involved in immune response (GO:0002313)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|oxysterol binding (GO:0008142)	p.V54V(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						GAACAATGACGACCAAGGCTA	0.438																																						uc001vog.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(160-162)GTC>GTT		EBV-induced G protein-coupled receptor 2							92.0	89.0	90.0					13																	99948238		2203	4300	6503	SO:0001819	synonymous_variant	1880				humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:99948238G>A	L08177	CCDS9492.1	13q32.3	2012-08-21	2008-07-21	2008-07-21	ENSG00000169508	ENSG00000169508		"""GPCR / Class A : Orphans"""	3128	protein-coding gene	gene with protein product	"""EBV-induced G-protein coupled receptor 2"""	605741	"""Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)"""	EBI2		8383238	Standard	NM_004951		Approved		uc001vog.3	P32249	OTTHUMG00000017263	ENST00000376414.4:c.162C>T	13.37:g.99948238G>A						UBAC2_uc001voa.3_Intron|UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron	p.V54V	NM_004951	NP_004942	P32249	GP183_HUMAN			2	336	-			54			Helical; Name=1; (Potential).		B2R8N5|Q53F99|Q5JUH7	Silent	SNP	ENST00000376414.4	37	c.162C>T	CCDS9492.1																																																																																				PASS	0.438	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045582.2	NM_004951		21	57	21	57	---	---	---	---
MYO16	23026	broad.mit.edu	37	13	109445971	109445971	+	Missense_Mutation	SNP	G	G	A	rs201258873		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr13:109445971G>A	ENST00000357550.2	+	5	699	c.658G>A	c.(658-660)Gat>Aat	p.D220N	MYO16_ENST00000251041.5_Missense_Mutation_p.D220N|MYO16_ENST00000356711.2_Missense_Mutation_p.D220N	NM_001198950.1	NP_001185879.1			myosin XVI									p.D220N(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TGAGAAAAACGATGAAGGAGT	0.338																																						uc001vqt.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(658-660)GAT>AAT		myosin heavy chain Myr 8		G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	99.0	94.0	95.0		724,658	4.0	0.0	13		95	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	MYO16	NM_001198950.1,NM_015011.1	23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	242/1881,220/1859	109445971	1,13005	2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109445971G>A		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.658G>A	13.37:g.109445971G>A	ENSP00000350160:p.Asp220Asn					MYO16_uc010agk.1_Missense_Mutation_p.D242N|MYO16_uc001vqu.1_Missense_Mutation_p.D20N	p.D220N	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		6	784	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		220						Missense_Mutation	SNP	ENST00000357550.2	37	c.658G>A	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.096070	0.36952	0.0	1.16E-4	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.51574	0.7;0.7;0.7	5.76	4.03	0.46877	Ankyrin repeat-containing domain (4);	0.000000	0.41823	U	0.000820	T	0.29749	0.0743	L	0.28556	0.865	0.80722	D	1	B;P	0.44986	0.255;0.847	B;B	0.35240	0.063;0.198	T	0.05683	-1.0870	9	.	.	.	.	10.0572	0.42252	0.1624:0.0:0.8376:0.0	.	220;220	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	N	220	ENSP00000349145:D220N;ENSP00000350160:D220N;ENSP00000251041:D220N	.	D	+	1	0	MYO16	108243972	1.000000	0.71417	0.040000	0.18447	0.743000	0.42351	4.072000	0.57563	1.442000	0.47568	0.591000	0.81541	GAT		PASS	0.338	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		8	38	8	38	---	---	---	---
TOX4	9878	broad.mit.edu	37	14	21955802	21955802	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr14:21955802C>T	ENST00000405508.1	+	4	544	c.268C>T	c.(268-270)Cat>Tat	p.H90Y	TOX4_ENST00000494242.1_3'UTR|TOX4_ENST00000262709.3_Missense_Mutation_p.H90Y|TOX4_ENST00000448790.2_Missense_Mutation_p.H67Y			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	90						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)	p.H90Y(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGGCATGACCCATGGCTTGAT	0.572																																						uc001waz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(268-270)CAT>TAT		epidermal Langerhans cell protein LCP1							79.0	77.0	77.0					14																	21955802		2203	4300	6503	SO:0001583	missense	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21955802C>T	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.268C>T	14.37:g.21955802C>T	ENSP00000385102:p.His90Tyr					TOX4_uc001way.2_5'UTR|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Missense_Mutation_p.H67Y|TOX4_uc010tlv.1_Intron	p.H90Y	NM_014828	NP_055643	O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	3	371	+	all_cancers(95;0.000465)		90					B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	ENST00000405508.1	37	c.268C>T	CCDS32043.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593182	0.46214	.	.	ENSG00000092203	ENST00000416256;ENST00000405508;ENST00000262709;ENST00000457430;ENST00000448790	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	5.43	5.43	0.79202	.	0.184056	0.48767	D	0.000171	T	0.44286	0.1286	L	0.36672	1.1	0.40282	D	0.978408	D;B	0.53885	0.963;0.358	B;B	0.43623	0.425;0.116	T	0.46748	-0.9169	10	0.52906	T	0.07	.	18.3801	0.90448	0.0:1.0:0.0:0.0	.	67;90	B4DPY8;O94842	.;TOX4_HUMAN	Y	119;90;90;67;67	ENSP00000402195:H119Y;ENSP00000385102:H90Y;ENSP00000262709:H90Y;ENSP00000406196:H67Y;ENSP00000393080:H67Y	ENSP00000262709:H90Y	H	+	1	0	TOX4	21025642	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.198000	0.72106	2.693000	0.91896	0.655000	0.94253	CAT		PASS	0.572	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		18	87	18	87	---	---	---	---
HOMEZ	57594	broad.mit.edu	37	14	23746292	23746292	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr14:23746292C>T	ENST00000357460.5	-	2	309	c.145G>A	c.(145-147)Gag>Aag	p.E49K	HOMEZ_ENST00000431326.2_Missense_Mutation_p.E51K|HOMEZ_ENST00000561013.1_Missense_Mutation_p.E51K	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	49					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E49K(1)|p.E25K(1)		endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TGTAGCTCCTCAGAGATTGGA	0.542																																						uc001wja.2																			2	Substitution - Missense(2)		lung(2)		0						c.(145-147)GAG>AAG		homeodomain leucine zipper protein							104.0	99.0	101.0					14																	23746292		2019	4188	6207	SO:0001583	missense	57594					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23746292C>T	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.145G>A	14.37:g.23746292C>T	ENSP00000350049:p.Glu49Lys					HOMEZ_uc001wjb.2_Missense_Mutation_p.E51K	p.E49K	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	2	293	-	all_cancers(95;5.54e-06)		49					A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Missense_Mutation	SNP	ENST00000357460.5	37	c.145G>A	CCDS45085.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614300	0.87359	.	.	ENSG00000215271	ENST00000357460;ENST00000431326	T;T	0.32023	1.47;1.48	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.46600	0.1401	L	0.29908	0.895	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.984	T	0.32851	-0.9891	10	0.54805	T	0.06	.	19.1646	0.93551	0.0:1.0:0.0:0.0	.	51;49	F8WCA3;Q8IX15	.;HOMEZ_HUMAN	K	49;51	ENSP00000350049:E49K;ENSP00000406579:E51K	ENSP00000350049:E49K	E	-	1	0	HOMEZ	22816132	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.774000	0.62339	2.824000	0.97209	0.655000	0.94253	GAG		PASS	0.542	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		9	37	9	37	---	---	---	---
DHRS4L1	728635	broad.mit.edu	37	14	24507074	24507074	+	RNA	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr14:24507074C>G	ENST00000558293.1	+	0	176					NR_102693.1																						CTGAGCATGACGGGCACTGTG	0.652																																						uc010alc.2																			0					0						c.(250-252)ACG>AGG		dehydrogenase/reductase (SDR family) member 4							32.0	34.0	33.0					14																	24507074		2203	4300	6503			728635						binding|oxidoreductase activity	g.chr14:24507074C>G																													14.37:g.24507074C>G						DHRS4L1_uc010tnu.1_Intron	p.T84R	NM_001082488	NP_001075957	P0CG22	DR4L1_HUMAN			2	251	+			84						Missense_Mutation	SNP	ENST00000558293.1	37	c.251C>G		.	.	.	.	.	.	.	.	.	.	-	3.067	-0.192032	0.06299	.	.	ENSG00000225766	ENST00000397065	.	.	.	3.32	2.31	0.28768	NAD(P)-binding domain (1);	.	.	.	.	T	0.34745	0.0908	L	0.39566	1.225	.	.	.	B	0.27882	0.192	B	0.30646	0.118	T	0.35151	-0.9800	7	0.16896	T	0.51	.	7.5631	0.27864	0.387:0.613:0.0:0.0	.	84	P0CG22	DR4L1_HUMAN	R	84	.	ENSP00000380255:T84R	T	+	2	0	AL136295.1	23576914	0.006000	0.16342	0.594000	0.28785	0.107000	0.19398	1.162000	0.31786	1.864000	0.54056	0.400000	0.26472	ACG		PASS	0.652	RP11-468E2.9-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417272.1			3	12	3	12	---	---	---	---
NYNRIN	57523	broad.mit.edu	37	14	24885022	24885022	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr14:24885022C>A	ENST00000382554.3	+	9	4385	c.4067C>A	c.(4066-4068)gCa>gAa	p.A1356E		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1356					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.A1356E(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GCCCACCTGGCAGCCGTGGCC	0.612																																						uc001wpf.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(4066-4068)GCA>GAA		hypothetical protein LOC57523							79.0	84.0	82.0					14																	24885022		1969	4148	6117	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24885022C>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.4067C>A	14.37:g.24885022C>A	ENSP00000371994:p.Ala1356Glu						p.A1356E	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			9	4385	+			1356					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.4067C>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781952	0.70222	.	.	ENSG00000205978	ENST00000382554	T	0.19938	2.11	4.93	4.93	0.64822	Ribonuclease H-like (1);	.	.	.	.	T	0.30479	0.0766	N	0.24115	0.695	0.38152	D	0.938762	D	0.89917	1.0	D	0.83275	0.996	T	0.07121	-1.0789	9	0.18276	T	0.48	.	15.6876	0.77424	0.0:1.0:0.0:0.0	.	1356	Q9P2P1	NYNRI_HUMAN	E	1356	ENSP00000371994:A1356E	ENSP00000371994:A1356E	A	+	2	0	NYNRIN	23954862	0.995000	0.38212	0.963000	0.40424	0.986000	0.74619	3.528000	0.53524	2.551000	0.86045	0.655000	0.94253	GCA		PASS	0.612	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			9	88	9	88	---	---	---	---
PTGER2	5732	broad.mit.edu	37	14	52781483	52781483	+	Missense_Mutation	SNP	G	G	A	rs371082222		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr14:52781483G>A	ENST00000245457.5	+	1	371	c.217G>A	c.(217-219)Gag>Aag	p.E73K	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	73					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)	p.E73K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	GCTGGTGACCGAGCTGGTGTT	0.697																																						uc001wzr.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(217-219)GAG>AAG		prostaglandin E receptor 2 (subtype EP2), 53kDa	Alprostadil(DB00770)|Iloprost(DB01088)	G	LYS/GLU	1,4387		0,1,2193	28.0	31.0	30.0		217	5.0	0.9	14		30	1,8571		0,1,4285	no	missense	PTGER2	NM_000956.3	56	0,2,6478	AA,AG,GG		0.0117,0.0228,0.0154	probably-damaging	73/359	52781483	2,12958	2194	4286	6480	SO:0001583	missense	5732					integral to plasma membrane	prostaglandin E receptor activity	g.chr14:52781483G>A		CCDS9708.1	14q22	2012-08-08	2002-08-29		ENSG00000125384	ENSG00000125384		"""GPCR / Class A : Prostanoid receptors"""	9594	protein-coding gene	gene with protein product		176804	"""prostaglandin E receptor 2 (subtype EP2), 53kD"""			8250933, 7759114	Standard	NM_000956		Approved	EP2	uc001wzr.3	P43116	OTTHUMG00000140300	ENST00000245457.5:c.217G>A	14.37:g.52781483G>A	ENSP00000245457:p.Glu73Lys						p.E73K	NM_000956	NP_000947	P43116	PE2R2_HUMAN			1	468	+	Breast(41;0.0639)|all_epithelial(31;0.0729)		73			Helical; Name=2; (Potential).		D3DSC0|Q52LG8	Missense_Mutation	SNP	ENST00000245457.5	37	c.217G>A	CCDS9708.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256888	0.80246	2.28E-4	1.17E-4	ENSG00000125384	ENST00000245457	T	0.36878	1.23	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	0.270493	0.37669	N	0.001986	T	0.35508	0.0934	L	0.51422	1.61	0.37744	D	0.925727	D	0.53462	0.96	B	0.41646	0.362	T	0.42189	-0.9466	10	0.48119	T	0.1	-19.7926	16.2144	0.82195	0.0:0.0:1.0:0.0	.	73	P43116	PE2R2_HUMAN	K	73	ENSP00000245457:E73K	ENSP00000245457:E73K	E	+	1	0	PTGER2	51851233	0.903000	0.30736	0.946000	0.38457	0.969000	0.65631	4.690000	0.61731	2.504000	0.84457	0.467000	0.42956	GAG		PASS	0.697	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276890.1			5	55	5	55	---	---	---	---
CGRRF1	10668	broad.mit.edu	37	14	54989297	54989297	+	Nonsense_Mutation	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr14:54989297C>G	ENST00000216420.7	+	2	362	c.230C>G	c.(229-231)tCa>tGa	p.S77*	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	77					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.S77*(1)		endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						AATCCATCTTCAGCTTCAATT	0.363																																						uc001xay.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(229-231)TCA>TGA		cell growth regulator with ring finger domain 1							121.0	118.0	119.0					14																	54989297		2203	4300	6503	SO:0001587	stop_gained	10668				cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding	g.chr14:54989297C>G	BC015063	CCDS9719.1	14q22.2	2013-09-20			ENSG00000100532	ENSG00000100532		"""RING-type (C3HC4) zinc fingers"""	15528	protein-coding gene	gene with protein product		606138				8968090	Standard	NM_006568		Approved	CGR19, RNF197	uc001xay.3	Q99675	OTTHUMG00000140308	ENST00000216420.7:c.230C>G	14.37:g.54989297C>G	ENSP00000216420:p.Ser77*					CGRRF1_uc010tra.1_Nonsense_Mutation_p.S77*|CGRRF1_uc001xaz.2_RNA	p.S77*	NM_006568	NP_006559	Q99675	CGRF1_HUMAN			2	321	+			77					Q96BX2	Nonsense_Mutation	SNP	ENST00000216420.7	37	c.230C>G	CCDS9719.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483859	0.63962	.	.	ENSG00000100532	ENST00000216420;ENST00000557317	.	.	.	5.7	5.7	0.88788	.	0.391516	0.30036	N	0.010575	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-4.3572	14.0443	0.64695	0.0:0.9279:0.0:0.0721	.	.	.	.	X	77	.	ENSP00000216420:S77X	S	+	2	0	CGRRF1	54059047	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	3.792000	0.55476	2.689000	0.91719	0.491000	0.48974	TCA		PASS	0.363	CGRRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276905.2	NM_006568		38	91	38	91	---	---	---	---
ESR2	2100	broad.mit.edu	37	14	64727439	64727439	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr14:64727439C>A	ENST00000341099.4	-	5	1097	c.680G>T	c.(679-681)cGc>cTc	p.R227L	ESR2_ENST00000553796.1_Missense_Mutation_p.R227L|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000353772.3_Missense_Mutation_p.R227L|ESR2_ENST00000542956.1_Missense_Mutation_p.R227L|ESR2_ENST00000267525.6_Missense_Mutation_p.R227L|ESR2_ENST00000555278.1_Missense_Mutation_p.R227L|ESR2_ENST00000358599.5_Missense_Mutation_p.R227L|ESR2_ENST00000554572.1_Missense_Mutation_p.R227L|ESR2_ENST00000557772.1_Missense_Mutation_p.R227L|ESR2_ENST00000357782.2_Missense_Mutation_p.R227L	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	227	Steroid-binding.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R227L(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CCGCACAAGGCGGTACCCACA	0.587																																						uc001xha.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(679-681)CGC>CTC		estrogen receptor beta isoform 1	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)						29.0	30.0	30.0					14																	64727439		2201	4294	6495	SO:0001583	missense	2100				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	g.chr14:64727439C>A	X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"""Nuclear hormone receptors"""	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.680G>T	14.37:g.64727439C>A	ENSP00000343925:p.Arg227Leu					ESR2_uc001xgu.2_Missense_Mutation_p.R227L|ESR2_uc001xgv.2_Missense_Mutation_p.R227L|ESR2_uc001xgw.2_RNA|ESR2_uc001xgx.2_Missense_Mutation_p.R227L|ESR2_uc001xgy.1_Missense_Mutation_p.R227L|ESR2_uc001xgz.1_Missense_Mutation_p.R227L|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Missense_Mutation_p.R227L|ESR2_uc010aqd.1_RNA	p.R227L	NM_001437	NP_001428	Q92731	ESR2_HUMAN		all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	5	1148	-			227			Steroid-binding.		A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	ENST00000341099.4	37	c.680G>T	CCDS9762.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315718	0.60524	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099;ENST00000267525	D;D;D;D;D;D;D;D;D;D;D	0.91945	-2.93;-2.87;-2.87;-2.87;-2.87;-2.94;-2.93;-2.94;-2.93;-2.78;-2.51	5.53	3.72	0.42706	Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);	0.414867	0.28748	N	0.014261	D	0.96522	0.8865	M	0.92923	3.36	0.58432	D	0.999999	D;D;P;D;P	0.71674	0.998;0.998;0.541;0.993;0.871	D;D;B;D;P	0.72338	0.977;0.974;0.208;0.957;0.449	D	0.96510	0.9378	10	0.87932	D	0	.	12.2801	0.54759	0.0:0.8637:0.0:0.1363	.	227;227;227;227;227	Q92731-7;Q92731;Q92731-6;Q92731-5;F1D8N3	.;ESR2_HUMAN;.;.;.	L	227	ENSP00000452485:R227L;ENSP00000441792:R227L;ENSP00000450699:R227L;ENSP00000335551:R227L;ENSP00000351412:R227L;ENSP00000450488:R227L;ENSP00000452426:R227L;ENSP00000350427:R227L;ENSP00000451582:R227L;ENSP00000343925:R227L;ENSP00000267525:R227L	ENSP00000267525:R227L	R	-	2	0	ESR2	63797192	0.982000	0.34865	0.709000	0.30452	0.245000	0.25701	2.455000	0.44988	0.818000	0.34468	0.563000	0.77884	CGC		PASS	0.587	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1			13	41	13	41	---	---	---	---
KCNK13	56659	broad.mit.edu	37	14	90650863	90650864	+	Missense_Mutation	DNP	AC	AC	GT	rs574638305		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr14:90650863_90650864AC>GT	ENST00000282146.4	+	2	1184_1185	c.743_744AC>GT	c.(742-744)aAC>aGT	p.N248S		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	248					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.N248S(2)|p.N248N(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				AGCAGCCAGAACGCCCACTATG	0.505																																						uc001xye.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	skin(1)	1						c.(742-744)AAC>AGC|c.(742-744)AAC>AAT		potassium channel, subfamily K, member 13																																				SO:0001583	missense	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90650863A>G|g.chr14:90650864C>T	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		Exception_encountered	14.37:g.90650863_90650864delinsGT	ENSP00000282146:p.Asn248Ser						p.N248S|p.N248N	NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN			2	1185|1186	+		all_cancers(154;0.186)	248					B5TJL8|Q96E79	Missense_Mutation|Silent	SNP	ENST00000282146.4	37	c.743A>G|c.744C>T	CCDS9889.1																																																																																				PASS	0.505	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		10	56|57	10	56	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102483504	102483504	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr14:102483504G>T	ENST00000360184.4	+	39	8092	c.7928G>T	c.(7927-7929)cGc>cTc	p.R2643L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2643	AAA 3. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.R2643L(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GAGTACAGGCGCACACCTAAT	0.473																																						uc001yks.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(7927-7929)CGC>CTC		cytoplasmic dynein 1 heavy chain 1							151.0	143.0	146.0					14																	102483504		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102483504G>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.7928G>T	14.37:g.102483504G>T	ENSP00000348965:p.Arg2643Leu					DYNC1H1_uc001ykt.1_Missense_Mutation_p.R134L	p.R2643L	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			39	8092	+			2643			AAA 3 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.7928G>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616148	0.66672	.	.	ENSG00000197102	ENST00000360184	T	0.25579	1.79	5.16	5.16	0.70880	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.54532	0.1864	M	0.88241	2.94	0.80722	D	1	P	0.51057	0.941	P	0.57152	0.814	T	0.61946	-0.6958	10	0.52906	T	0.07	.	19.0066	0.92854	0.0:0.0:1.0:0.0	.	2643	Q14204	DYHC1_HUMAN	L	2643	ENSP00000348965:R2643L	ENSP00000348965:R2643L	R	+	2	0	DYNC1H1	101553257	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	9.632000	0.98428	2.576000	0.86940	0.561000	0.74099	CGC		PASS	0.473	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		28	154	28	154	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105405346	105405346	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr14:105405346C>T	ENST00000333244.5	-	7	16561	c.16442G>A	c.(16441-16443)aGc>aAc	p.S5481N	AHNAK2_ENST00000557457.1_Missense_Mutation_p.S479N	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5481						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.S451N(1)|p.S5481N(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTCACTATGCTGTGTATAGT	0.478																																						uc010axc.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(16441-16443)AGC>AAC		AHNAK nucleoprotein 2							28.0	27.0	27.0					14																	105405346		1899	4129	6028	SO:0001583	missense	113146					nucleus		g.chr14:105405346C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.16442G>A	14.37:g.105405346C>T	ENSP00000353114:p.Ser5481Asn					AHNAK2_uc001ypx.2_Missense_Mutation_p.S5381N	p.S5481N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	16562	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	5481					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.16442G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520879	0.64747	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.01084	5.36;5.36	4.99	4.09	0.47781	.	0.447175	0.18812	U	0.130495	T	0.01765	0.0056	L	0.40543	1.245	0.09310	N	1	P	0.50943	0.94	P	0.47015	0.534	T	0.57118	-0.7866	10	0.27082	T	0.32	.	11.4204	0.49978	0.0:0.9154:0.0:0.0846	.	5481	Q8IVF2	AHNK2_HUMAN	N	479;5481	ENSP00000450998:S479N;ENSP00000353114:S5481N	ENSP00000353114:S5481N	S	-	2	0	AHNAK2	104476391	0.000000	0.05858	0.008000	0.14137	0.020000	0.10135	0.714000	0.25808	2.490000	0.84030	0.591000	0.81541	AGC		PASS	0.478	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		3	27	3	27	---	---	---	---
IGHV7-81	28378	broad.mit.edu	37	14	107283028	107283028	+	RNA	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr14:107283028C>A	ENST00000390639.2	-	0	168									immunoglobulin heavy variable 7-81 (non-functional)																		TTGCAGGAGACCTTCACTGAG	0.572																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							142.0	147.0	145.0					14																	107283028		1955	4148	6103			8755							g.chr14:107283028C>A	Z27509		14q32.33	2012-02-08	2008-09-09		ENSG00000211979	ENSG00000211979		"""Immunoglobulins / IGH locus"""	5669	other	immunoglobulin gene			"""immunoglobulin heavy variable 7-81"""				Standard	NG_001019		Approved				OTTHUMG00000151731		14.37:g.107283028C>A						uc001ytb.1_Missense_Mutation_p.V39F								1		-									RNA	SNP	ENST00000390639.2	37	c.60G>T																																																																																					PASS	0.572	IGHV7-81-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323700.2	NG_001019		59	113	59	113	---	---	---	---
NPAP1	23742	broad.mit.edu	37	15	24921369	24921369	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr15:24921369C>A	ENST00000329468.2	+	1	829	c.355C>A	c.(355-357)Ccc>Acc	p.P119T		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	119					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.P119T(1)									GATCCCTCCTCCCAGCCGCAT	0.652																																						uc001ywo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(355-357)CCC>ACC		hypothetical protein LOC23742							57.0	47.0	51.0					15																	24921369		2203	4296	6499	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921369C>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.355C>A	15.37:g.24921369C>A	ENSP00000333735:p.Pro119Thr						p.P119T	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	829	+		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)	119						Missense_Mutation	SNP	ENST00000329468.2	37	c.355C>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	9.282	1.048343	0.19827	.	.	ENSG00000185823	ENST00000329468	T	0.10382	2.88	2.45	-0.911	0.10507	.	1.581410	0.04529	N	0.386036	T	0.17280	0.0415	L	0.34521	1.04	0.09310	N	1	D	0.62365	0.991	D	0.66716	0.946	T	0.18903	-1.0322	10	0.35671	T	0.21	.	2.8989	0.05699	0.0:0.4434:0.2428:0.3139	.	119	Q9NZP6	CO002_HUMAN	T	119	ENSP00000333735:P119T	ENSP00000333735:P119T	P	+	1	0	C15orf2	22472462	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.135000	0.03225	-0.182000	0.10602	0.484000	0.47621	CCC		PASS	0.652	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		38	54	38	54	---	---	---	---
GABRB3	2562	broad.mit.edu	37	15	26806098	26806098	+	Nonsense_Mutation	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr15:26806098G>C	ENST00000311550.5	-	8	1172	c.1061C>G	c.(1060-1062)tCa>tGa	p.S354*	GABRB3_ENST00000299267.4_Nonsense_Mutation_p.S354*|GABRB3_ENST00000545868.1_Nonsense_Mutation_p.S269*|GABRB3_ENST00000541819.2_Nonsense_Mutation_p.S410*|GABRB3_ENST00000400188.3_Nonsense_Mutation_p.S283*	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	354					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.S354*(2)|p.S410*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTCGCTCTTTGAACGGTCATT	0.483																																						uc001zaz.2																			3	Substitution - Nonsense(3)		lung(3)	upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(1060-1062)TCA>TGA		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						245.0	262.0	256.0					15																	26806098		2203	4300	6503	SO:0001587	stop_gained	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26806098G>C		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1061C>G	15.37:g.26806098G>C	ENSP00000308725:p.Ser354*					GABRB3_uc010uae.1_Nonsense_Mutation_p.S269*|GABRB3_uc001zba.2_Nonsense_Mutation_p.S354*|GABRB3_uc001zbb.2_Nonsense_Mutation_p.S410*	p.S354*	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	8	1203	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	354			Cytoplasmic (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Nonsense_Mutation	SNP	ENST00000311550.5	37	c.1061C>G	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	G	33	5.237427	0.95240	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	.	.	.	5.19	5.19	0.71726	.	113.321000	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	17.7373	0.88397	0.0:0.0:1.0:0.0	.	.	.	.	X	354;410;354;283;269	.	ENSP00000299267:S354X	S	-	2	0	GABRB3	24357191	0.572000	0.26668	0.483000	0.27378	0.950000	0.60333	2.343000	0.44001	2.416000	0.81992	0.655000	0.94253	TCA		PASS	0.483	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			17	274	17	274	---	---	---	---
GABRA5	2558	broad.mit.edu	37	15	27185157	27185157	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr15:27185157G>A	ENST00000335625.5	+	9	1698	c.810G>A	c.(808-810)atG>atA	p.M270I	GABRB3_ENST00000541819.2_5'Flank|GABRA5_ENST00000355395.5_Missense_Mutation_p.M270I|GABRA5_ENST00000400081.3_Missense_Mutation_p.M270I	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	270					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.M270I(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	CCTGCATAATGACCGTGATCT	0.493																																						uc001zbd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(808-810)ATG>ATA		gamma-aminobutyric acid A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						130.0	125.0	126.0					15																	27185157		1994	4170	6164	SO:0001583	missense	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27185157G>A		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.810G>A	15.37:g.27185157G>A	ENSP00000335592:p.Met270Ile					GABRB3_uc001zbb.2_5'Flank	p.M270I	NM_000810	NP_000801	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	10	1149	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	270			Helical; (Potential).		A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	c.810G>A	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846924	0.91277	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000400081	D;D;D	0.85556	-2.0;-2.0;-2.0	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.88355	0.6414	L	0.34521	1.04	0.80722	D	1	D	0.55385	0.971	D	0.64877	0.93	D	0.89718	0.3917	10	0.87932	D	0	.	17.9859	0.89156	0.0:0.0:1.0:0.0	.	270	P31644	GBRA5_HUMAN	I	270	ENSP00000335592:M270I;ENSP00000347557:M270I;ENSP00000382953:M270I	ENSP00000335592:M270I	M	+	3	0	GABRA5	24767903	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	9.592000	0.98245	2.491000	0.84063	0.561000	0.74099	ATG		PASS	0.493	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			21	39	21	39	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33922206	33922206	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr15:33922206G>C	ENST00000389232.4	+	22	2815	c.2745G>C	c.(2743-2745)gaG>gaC	p.E915D	RYR3_ENST00000415757.3_Missense_Mutation_p.E915D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	915	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.E915D(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGAAACTGAGAAGAACTATA	0.338																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(2743-2745)GAG>GAC		ryanodine receptor 3							92.0	83.0	86.0					15																	33922206		1837	4088	5925	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33922206G>C		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.2745G>C	15.37:g.33922206G>C	ENSP00000373884:p.Glu915Asp					RYR3_uc010bar.2_Missense_Mutation_p.E915D	p.E915D	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	22	2815	+		all_lung(180;7.18e-09)	915			4 X approximate repeats.|1.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.2745G>C	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.533855	0.64972	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.93488	-3.23;-3.23	5.35	4.44	0.53790	Ryanodine receptor Ryr (1);	0.000000	0.85682	D	0.000000	D	0.95614	0.8574	M	0.69463	2.115	0.47819	D	0.999528	D;D	0.69078	0.99;0.997	D;D	0.79108	0.979;0.992	D	0.94734	0.7912	10	0.35671	T	0.21	.	14.0073	0.64473	0.0721:0.0:0.9279:0.0	.	915;915	Q15413-2;Q15413	.;RYR3_HUMAN	D	915	ENSP00000373884:E915D;ENSP00000399610:E915D	ENSP00000354735:E915D	E	+	3	2	RYR3	31709498	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.592000	0.46171	1.486000	0.48398	0.650000	0.86243	GAG		PASS	0.338	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			3	14	3	14	---	---	---	---
MAP1A	4130	broad.mit.edu	37	15	43822282	43822282	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr15:43822282A>T	ENST00000300231.5	+	6	8722	c.8272A>T	c.(8272-8274)Act>Tct	p.T2758S	MAP1A_ENST00000399453.1_Missense_Mutation_p.T2760S|MAP1A_ENST00000382031.1_Missense_Mutation_p.T2996S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2758					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.T2758S(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TCTGATCCCTACTCATGACAC	0.517																																						uc001zrt.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(8272-8274)ACT>TCT		microtubule-associated protein 1A	Estramustine(DB01196)						90.0	94.0	93.0					15																	43822282		2056	4220	6276	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43822282A>T	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.8272A>T	15.37:g.43822282A>T	ENSP00000300231:p.Thr2758Ser						p.T2758S	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	6	8739	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	2758					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.8272A>T	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	A	16.58	3.161913	0.57368	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.05786	3.39;3.45;3.4	5.25	5.25	0.73442	.	.	.	.	.	T	0.27454	0.0674	M	0.81497	2.545	0.49582	D	0.999802	D	0.89917	1.0	D	0.87578	0.998	T	0.01920	-1.1247	9	0.87932	D	0	-14.4679	15.3292	0.74193	1.0:0.0:0.0:0.0	.	2758	P78559	MAP1A_HUMAN	S	2996;2760;2758	ENSP00000371462:T2996S;ENSP00000382380:T2760S;ENSP00000300231:T2758S	ENSP00000300231:T2758S	T	+	1	0	MAP1A	41609574	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.139000	0.94554	2.207000	0.71202	0.460000	0.39030	ACT		PASS	0.517	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		32	57	32	57	---	---	---	---
CATSPER2	117155	broad.mit.edu	37	15	43940214	43940214	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr15:43940214C>T	ENST00000321596.5	-	2	245	c.46G>A	c.(46-48)Gat>Aat	p.D16N	STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000396879.1_Missense_Mutation_p.D16N|CATSPER2_ENST00000355438.2_Missense_Mutation_p.D16N|CATSPER2_ENST00000354127.4_Missense_Mutation_p.D16N|CATSPER2_ENST00000464721.1_Intron|CATSPER2_ENST00000381761.1_Missense_Mutation_p.D22N			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	16					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.D16N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		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)		CGAATGGCATCAGCTCGGGGA	0.488																																						uc001zsh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(46-48)GAT>AAT		sperm-associated cation channel 2 isoform 2							240.0	238.0	239.0					15																	43940214		2199	4296	6495	SO:0001583	missense	117155				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity	g.chr15:43940214C>T	AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.46G>A	15.37:g.43940214C>T	ENSP00000321463:p.Asp16Asn					CATSPER2_uc010bdm.2_RNA|CATSPER2_uc001zsi.2_Missense_Mutation_p.D16N|CATSPER2_uc001zsj.2_Missense_Mutation_p.D16N|CATSPER2_uc001zsk.2_Missense_Mutation_p.D16N|CATSPER2_uc001zsl.1_Intron	p.D16N	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	2	261	-		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)	16			Cytoplasmic (Potential).		Q8NHT9|Q96P54|Q96P55	Missense_Mutation	SNP	ENST00000321596.5	37	c.46G>A	CCDS10099.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.071818	0.55646	.	.	ENSG00000166762	ENST00000396879;ENST00000299989;ENST00000381761;ENST00000321596;ENST00000354127;ENST00000355438;ENST00000432420;ENST00000409481;ENST00000419473	T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19	2.64	2.64	0.31445	.	.	.	.	.	T	0.55561	0.1928	M	0.73598	2.24	0.29533	N	0.852639	D;D;D	0.76494	0.999;0.999;0.998	D;D;P	0.70935	0.971;0.941;0.874	T	0.51092	-0.8749	9	0.87932	D	0	.	8.8707	0.35314	0.0:1.0:0.0:0.0	.	16;22;16	Q96P56-4;F8W9H2;Q96P56	.;.;CTSR2_HUMAN	N	16;16;22;16;16;16;16;16;16	ENSP00000380088:D16N;ENSP00000371180:D22N;ENSP00000321463:D16N;ENSP00000339137:D16N;ENSP00000347613:D16N;ENSP00000407694:D16N;ENSP00000386595:D16N	ENSP00000299989:D16N	D	-	1	0	CATSPER2	41727506	0.983000	0.35010	0.998000	0.56505	0.527000	0.34593	2.121000	0.41977	1.487000	0.48415	0.184000	0.17185	GAT		PASS	0.488	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2	NM_054020		64	286	64	286	---	---	---	---
MYO5A	4644	broad.mit.edu	37	15	52615590	52615590	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr15:52615590G>C	ENST00000399231.3	-	36	4930	c.4687C>G	c.(4687-4689)Cga>Gga	p.R1563G	MYO5A_ENST00000399233.2_Missense_Mutation_p.R1560G|MYO5A_ENST00000553916.1_Missense_Mutation_p.R1561G|MYO5A_ENST00000356338.6_Missense_Mutation_p.R1536G|MYO5A_ENST00000358212.6_Missense_Mutation_p.R1588G	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1563	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.R1563G(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGCAAAAATCGGCATGTGTTA	0.383																																						uc002aby.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(4687-4689)CGA>GGA		myosin VA isoform 1							131.0	122.0	125.0					15																	52615590		1834	4086	5920	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52615590G>C		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.4687C>G	15.37:g.52615590G>C	ENSP00000382177:p.Arg1563Gly					MYO5A_uc002abx.3_Missense_Mutation_p.R1536G|MYO5A_uc010ugd.1_Missense_Mutation_p.R285G	p.R1563G	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	36	4931	-			1563			Dilute.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.4687C>G	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783161	0.90282	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	6.17	5.25	0.73442	Dilute (1);	0.000000	0.85682	D	0.000000	T	0.61590	0.2359	M	0.85859	2.78	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.997	D;D;D	0.91635	0.999;0.989;0.95	T	0.69347	-0.5169	10	0.72032	D	0.01	.	16.9456	0.86229	0.0:0.0:0.8711:0.1289	.	293;1563;1536	B5LY56;Q9Y4I1;Q9Y4I1-2	.;MYO5A_HUMAN;.	G	1563;1070;1560;1536;1588;1166;1561	ENSP00000382177:R1563G;ENSP00000382179:R1560G;ENSP00000348693:R1536G;ENSP00000350945:R1588G;ENSP00000451109:R1561G	ENSP00000348693:R1536G	R	-	1	2	MYO5A	50402882	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	1.602000	0.50124	0.655000	0.94253	CGA		PASS	0.383	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		4	97	4	97	---	---	---	---
MYO1E	4643	broad.mit.edu	37	15	59506474	59506474	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr15:59506474C>T	ENST00000288235.4	-	12	1627	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K	AC092756.1_ENST00000401164.1_RNA|RNU4-80P_ENST00000363200.1_RNA	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	410	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)	p.E410K(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TGCAGTTTTTCATTAACAAAA	0.279																																						uc002aga.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)	3						c.(1228-1230)GAA>AAA		myosin IE							57.0	65.0	62.0					15																	59506474		2190	4287	6477	SO:0001583	missense	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59506474C>T	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.1228G>A	15.37:g.59506474C>T	ENSP00000288235:p.Glu410Lys						p.E410K	NM_004998	NP_004989	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	12	1600	-			410			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	c.1228G>A	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	C	34	5.343060	0.95783	.	.	ENSG00000157483	ENST00000288235	D	0.98120	-4.73	5.29	5.29	0.74685	Myosin head, motor domain (3);	0.097532	0.64402	D	0.000001	D	0.99456	0.9807	H	0.99851	4.845	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.97849	1.0273	10	0.87932	D	0	.	19.1278	0.93393	0.0:1.0:0.0:0.0	.	410	Q12965	MYO1E_HUMAN	K	410	ENSP00000288235:E410K	ENSP00000288235:E410K	E	-	1	0	MYO1E	57293766	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.651000	0.83577	2.756000	0.94617	0.561000	0.74099	GAA		PASS	0.279	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		15	55	15	55	---	---	---	---
TRIP4	9325	broad.mit.edu	37	15	64701915	64701915	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr15:64701915G>A	ENST00000261884.3	+	7	991	c.931G>A	c.(931-933)Gag>Aag	p.E311K	TRIP4_ENST00000559565.1_3'UTR	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	311					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.E311K(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						GAAGCGAGAGGAGGAGCTGAG	0.463																																						uc002anm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(931-933)GAG>AAG		thyroid hormone receptor interactor 4							126.0	122.0	124.0					15																	64701915		2203	4300	6503	SO:0001583	missense	9325				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding	g.chr15:64701915G>A	L40371	CCDS10194.1	15q22.1	2014-02-17			ENSG00000103671	ENSG00000103671		"""-"""	12310	protein-coding gene	gene with protein product	"""zinc finger, C2HC5-type"""	604501				7776974	Standard	NM_016213		Approved	HsT17391, ZC2HC5	uc002anm.3	Q15650	OTTHUMG00000133033	ENST00000261884.3:c.931G>A	15.37:g.64701915G>A	ENSP00000261884:p.Glu311Lys						p.E311K	NM_016213	NP_057297	Q15650	TRIP4_HUMAN			7	974	+			311					B2RAS0|Q96ED7|Q9UKH0	Missense_Mutation	SNP	ENST00000261884.3	37	c.931G>A	CCDS10194.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.895120	0.52121	.	.	ENSG00000103671	ENST00000261884	.	.	.	5.65	3.69	0.42338	.	0.242645	0.48767	D	0.000180	T	0.38639	0.1048	N	0.25485	0.75	0.44890	D	0.997901	B	0.17268	0.021	B	0.14578	0.011	T	0.13818	-1.0495	9	0.11794	T	0.64	-5.7911	9.4425	0.38677	0.0889:0.5096:0.4015:0.0	.	311	Q15650	TRIP4_HUMAN	K	311	.	ENSP00000261884:E311K	E	+	1	0	TRIP4	62488968	1.000000	0.71417	0.989000	0.46669	0.984000	0.73092	2.334000	0.43920	1.359000	0.45940	0.555000	0.69702	GAG		PASS	0.463	TRIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256635.2	NM_016213		21	96	21	96	---	---	---	---
PDE8A	5151	broad.mit.edu	37	15	85643423	85643423	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr15:85643423C>A	ENST00000310298.4	+	12	1282	c.1030C>A	c.(1030-1032)Cat>Aat	p.H344N	PDE8A_ENST00000394553.1_Missense_Mutation_p.H344N|PDE8A_ENST00000339708.5_Missense_Mutation_p.H298N|PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000557957.1_Missense_Mutation_p.H272N			O60658	PDE8A_HUMAN	phosphodiesterase 8A	344				H -> R (in Ref. 2; AAK57641 and 7; AAC39763). {ECO:0000305}.	cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.H344N(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	GTCTGACACTCATACAGGTAC	0.383																																						uc002blh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(1030-1032)CAT>AAT		phosphodiesterase 8A isoform 1							61.0	64.0	63.0					15																	85643423		2203	4299	6502	SO:0001583	missense	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85643423C>A	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.1030C>A	15.37:g.85643423C>A	ENSP00000311453:p.His344Asn					PDE8A_uc002bli.2_Missense_Mutation_p.H298N|PDE8A_uc010bnc.2_Missense_Mutation_p.H97N|PDE8A_uc010bnd.2_Missense_Mutation_p.H97N|PDE8A_uc002blj.2_5'UTR|PDE8A_uc002blk.2_5'UTR	p.H344N	NM_002605	NP_002596	O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		11	1219	+	Colorectal(223;0.227)		344	H -> R (in Ref. 2; AAK57641 and 6; AAC39763).				B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	37	c.1030C>A	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	C	8.143	0.785738	0.16189	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.68624	-0.34;-0.34;-0.34	4.53	1.55	0.23275	.	1.738270	0.02798	N	0.122911	T	0.55878	0.1948	L	0.34521	1.04	0.09310	N	1	B;B	0.22909	0.077;0.037	B;B	0.25614	0.062;0.014	T	0.31110	-0.9955	10	0.28530	T	0.3	.	5.2839	0.15690	0.1747:0.6443:0.0:0.181	.	298;344	O60658-2;O60658	.;PDE8A_HUMAN	N	344;344;298	ENSP00000311453:H344N;ENSP00000378056:H344N;ENSP00000340679:H298N	ENSP00000311453:H344N	H	+	1	0	PDE8A	83444427	0.017000	0.18338	0.001000	0.08648	0.792000	0.44763	1.139000	0.31504	0.137000	0.18759	-0.535000	0.04281	CAT		PASS	0.383	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		32	50	32	50	---	---	---	---
TBC1D24	57465	broad.mit.edu	37	16	2546958	2546958	+	Missense_Mutation	SNP	G	G	T	rs545689324		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr16:2546958G>T	ENST00000293970.5	+	2	942	c.809G>T	c.(808-810)cGc>cTc	p.R270L	TBC1D24_ENST00000567020.1_Missense_Mutation_p.R270L|TBC1D24_ENST00000434757.2_Missense_Mutation_p.R270L|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.R270L	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	270					neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)	p.R270L(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CAGGACATCCGCACGTTCGTC	0.617																																						uc002cql.2																			1	Substitution - Missense(1)		lung(1)		0						c.(808-810)CGC>CTC		TBC1 domain family, member 24							63.0	70.0	68.0					16																	2546958		2161	4264	6425	SO:0001583	missense	57465				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity	g.chr16:2546958G>T	AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 6"""	613577	"""deafness, autosomal recessive 86"""	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.809G>T	16.37:g.2546958G>T	ENSP00000293970:p.Arg270Leu					TBC1D24_uc002cqk.2_Missense_Mutation_p.R270L|TBC1D24_uc002cqm.2_Missense_Mutation_p.R270L|TBC1D24_uc010bsm.2_5'Flank	p.R270L	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN			2	949	+			270					A0JNW3|B9A6M6|Q2KJ08	Missense_Mutation	SNP	ENST00000293970.5	37	c.809G>T	CCDS55980.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413893	0.25465	.	.	ENSG00000162065	ENST00000293970;ENST00000434757	T;T	0.21361	2.01;2.01	5.24	5.24	0.73138	Rab-GAP/TBC domain (1);	0.125811	0.56097	D	0.000024	T	0.26195	0.0639	L	0.51422	1.61	0.53688	D	0.999972	P;P;P	0.49783	0.881;0.881;0.928	B;B;P	0.50570	0.254;0.441;0.644	T	0.01472	-1.1346	10	0.19147	T	0.46	-41.845	10.9853	0.47518	0.0858:0.0:0.9142:0.0	.	270;270;270	B9A6M6;Q9ULP9;Q9ULP9-2	.;TBC24_HUMAN;.	L	270	ENSP00000293970:R270L;ENSP00000390106:R270L	ENSP00000293970:R270L	R	+	2	0	TBC1D24	2486959	1.000000	0.71417	0.944000	0.38274	0.152000	0.21847	4.454000	0.60068	2.445000	0.82738	0.655000	0.94253	CGC		PASS	0.617	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1	NM_020705		4	147	4	147	---	---	---	---
OR1F1	4992	broad.mit.edu	37	16	3254528	3254528	+	Silent	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr16:3254528C>T	ENST00000304646.2	+	1	282	c.282C>T	c.(280-282)ttC>ttT	p.F94F	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	94					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F94F(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CCATCTCCTTCTGTGGCTGTC	0.502																																						uc010uwu.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(280-282)TTC>TTT		olfactory receptor, family 1, subfamily F,							250.0	218.0	229.0					16																	3254528		2197	4300	6497	SO:0001819	synonymous_variant	4992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr16:3254528C>T	Y14442	CCDS10496.1	16p13.3	2012-08-09			ENSG00000168124	ENSG00000168124		"""GPCR / Class A : Olfactory receptors"""	8194	protein-coding gene	gene with protein product		603232		OR1F4, OR1F6, OR1F7, OR1F8, OR1F9, OR1F5, OR1F10, OR1F13P		9288094, 9500546	Standard	NM_012360		Approved	Olfmf, OR16-36, OR16-37, OR16-88, OR16-89, OR16-90, OLFMF, OR3-145	uc010uwu.2	O43749	OTTHUMG00000133153	ENST00000304646.2:c.282C>T	16.37:g.3254528C>T							p.F94F	NM_012360	NP_036492	O43749	OR1F1_HUMAN			1	282	+			94			Extracellular (Potential).		O15246|Q6IFL5	Silent	SNP	ENST00000304646.2	37	c.282C>T	CCDS10496.1																																																																																				PASS	0.502	OR1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206985.1			7	300	7	300	---	---	---	---
ZNF174	7727	broad.mit.edu	37	16	3458795	3458795	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr16:3458795C>T	ENST00000268655.4	+	3	1685	c.1100C>T	c.(1099-1101)tCa>tTa	p.S367L	ZNF174_ENST00000571936.1_Missense_Mutation_p.S367L	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	367					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.S367L(1)		endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						GGGCGGCAGTCAACCCTGAAG	0.542																																						uc002cvc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1099-1101)TCA>TTA		zinc finger protein 174 isoform a							49.0	57.0	54.0					16																	3458795		2197	4300	6497	SO:0001583	missense	7727				negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:3458795C>T	U31248	CCDS10504.1, CCDS32380.1	16p13	2013-01-09			ENSG00000103343	ENSG00000103343		"""-"", ""Zinc fingers, C2H2-type"""	12963	protein-coding gene	gene with protein product		603900					Standard	NM_003450		Approved	ZSCAN8	uc002cvc.3	Q15697	OTTHUMG00000129358	ENST00000268655.4:c.1100C>T	16.37:g.3458795C>T	ENSP00000268655:p.Ser367Leu						p.S367L	NM_003450	NP_003441	Q15697	ZN174_HUMAN			3	1915	+			367			C2H2-type 2.		Q53Y68|Q9BQ34	Missense_Mutation	SNP	ENST00000268655.4	37	c.1100C>T	CCDS10504.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030034	0.54790	.	.	ENSG00000103343	ENST00000268655	T	0.36520	1.25	4.72	4.72	0.59763	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39475	N	0.001360	T	0.63486	0.2515	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67845	-0.5565	10	0.87932	D	0	.	16.0081	0.80377	0.0:1.0:0.0:0.0	.	367	Q15697	ZN174_HUMAN	L	367	ENSP00000268655:S367L	ENSP00000268655:S367L	S	+	2	0	ZNF174	3398796	0.003000	0.15002	0.971000	0.41717	0.016000	0.09150	0.779000	0.26746	2.906000	0.99361	0.655000	0.94253	TCA		PASS	0.542	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251510.1	NM_003450		6	43	6	43	---	---	---	---
UBN1	29855	broad.mit.edu	37	16	4924782	4924782	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr16:4924782C>T	ENST00000396658.4	+	14	3074	c.2371C>T	c.(2371-2373)Cac>Tac	p.H791Y	UBN1_ENST00000545171.1_Missense_Mutation_p.H791Y|UBN1_ENST00000590769.1_Missense_Mutation_p.H791Y|UBN1_ENST00000262376.6_Missense_Mutation_p.H791Y	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	791					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H791Y(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						ACGGACGTCTCACGGGCCCCA	0.572																																						uc002cyb.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(2371-2373)CAC>TAC		ubinuclein 1							72.0	77.0	76.0					16																	4924782		2197	4300	6497	SO:0001583	missense	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4924782C>T	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.2371C>T	16.37:g.4924782C>T	ENSP00000379894:p.His791Tyr					UBN1_uc010uxw.1_Missense_Mutation_p.H791Y|UBN1_uc002cyc.2_Missense_Mutation_p.H791Y	p.H791Y	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN			15	2710	+			791					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.2371C>T	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286404	0.40494	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.34667	1.35;1.35;1.35	5.14	4.17	0.49024	.	0.000000	0.64402	D	0.000012	T	0.40145	0.1105	L	0.29908	0.895	0.31678	N	0.643531	D;B	0.52996	0.957;0.342	P;B	0.54140	0.743;0.219	T	0.52056	-0.8626	10	0.72032	D	0.01	-12.0017	14.0051	0.64459	0.0:0.849:0.151:0.0	.	791;791	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	Y	791	ENSP00000262376:H791Y;ENSP00000442379:H791Y;ENSP00000379894:H791Y	ENSP00000262376:H791Y	H	+	1	0	UBN1	4864783	1.000000	0.71417	0.863000	0.33907	0.367000	0.29736	4.960000	0.63673	1.363000	0.46019	0.462000	0.41574	CAC		PASS	0.572	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		24	200	24	200	---	---	---	---
CIITA	4261	broad.mit.edu	37	16	11004059	11004059	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr16:11004059C>G	ENST00000324288.8	+	13	2964	c.2831C>G	c.(2830-2832)tCg>tGg	p.S944W	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Missense_Mutation_p.S360W	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	944			Missing (in BLS2). {ECO:0000269|PubMed:8402893}.		aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)	p.S944W(1)		central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						AGAAGTTCCTCGGAAGACACA	0.567			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	uc002dai.3				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75		PMBL|Hodgkin Lymphona|		1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2830-2832)TCG>TGG		class II transactivator							74.0	57.0	63.0					16																	11004059		2197	4300	6497	SO:0001583	missense	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:11004059C>G	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.2831C>G	16.37:g.11004059C>G	ENSP00000316328:p.Ser944Trp					CIITA_uc002daj.3_Missense_Mutation_p.S945W|CIITA_uc002dak.3_Missense_Mutation_p.S360W|CIITA_uc010bup.1_Missense_Mutation_p.R341G	p.S944W	NM_000246	NP_000237	P33076	C2TA_HUMAN			13	2964	+			944		Missing (in BLS2).			A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	c.2831C>G	CCDS10544.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.52|19.52	3.843609|3.843609	0.71488|0.71488	.|.	.|.	ENSG00000179583|ENSG00000179583	ENST00000537380|ENST00000324288;ENST00000381835	.|T;T	.|0.74209	.|-0.82;1.56	4.83|4.83	3.8|3.8	0.43715|0.43715	.|.	.|0.708561	.|0.12244	.|N	.|0.486271	T|T	0.80586|0.80586	0.4651|0.4651	L|L	0.51422|0.51422	1.61|1.61	0.18873|0.18873	N|N	0.999984|0.999984	B|D;D;D	0.30914|0.89917	0.3|1.0;0.996;0.993	B|D;P;P	0.29176|0.67548	0.099|0.952;0.817;0.785	T|T	0.68168|0.68168	-0.5480|-0.5480	8|10	0.87932|0.72032	D|D	0|0.01	.|.	9.8368|9.8368	0.40973|0.40973	0.2044:0.7956:0.0:0.0|0.2044:0.7956:0.0:0.0	.|.	341|360;944;944	F5H2J4|E9PFE0;A0N0N9;P33076	.|.;.;C2TA_HUMAN	G|W	341|944;360	.|ENSP00000316328:S944W;ENSP00000371257:S360W	ENSP00000446228:R341G|ENSP00000316328:S944W	R|S	+|+	1|2	2|0	CIITA|CIITA	10911560|10911560	0.028000|0.028000	0.19301|0.19301	0.093000|0.093000	0.20910|0.20910	0.831000|0.831000	0.47069|0.47069	1.382000|1.382000	0.34374|0.34374	2.391000|2.391000	0.81399|0.81399	0.561000|0.561000	0.74099|0.74099	CGG|TCG		PASS	0.567	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		8	24	8	24	---	---	---	---
SLC5A2	6524	broad.mit.edu	37	16	31494562	31494562	+	Silent	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr16:31494562G>A	ENST00000330498.3	+	1	124	c.105G>A	c.(103-105)ctG>ctA	p.L35L		NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	35					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)	p.L35L(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	ATTTCCTGCTGGTCATTGGCG	0.597																																						uc002ecf.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(103-105)CTG>CTA		solute carrier family 5 (sodium/glucose							113.0	102.0	105.0					16																	31494562		2197	4300	6497	SO:0001819	synonymous_variant	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31494562G>A		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.105G>A	16.37:g.31494562G>A						SLC5A2_uc010car.2_RNA	p.L35L	NM_003041	NP_003032	P31639	SC5A2_HUMAN			1	124	+			35			Helical; (Potential).		A2RRD2	Silent	SNP	ENST00000330498.3	37	c.105G>A	CCDS10714.1																																																																																				PASS	0.597	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			56	97	56	97	---	---	---	---
DNAJA2	10294	broad.mit.edu	37	16	46998598	46998598	+	Silent	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr16:46998598G>A	ENST00000317089.5	-	6	914	c.699C>T	c.(697-699)ttC>ttT	p.F233F		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	233					positive regulation of cell proliferation (GO:0008284)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)	p.F233F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				CTTCCCCAGTGAATGTAATTC	0.418																																						uc002eeo.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(697-699)TTC>TTT		DnaJ subfamily A member 2							197.0	185.0	189.0					16																	46998598		2203	4300	6503	SO:0001819	synonymous_variant	10294				positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	g.chr16:46998598G>A	AF116720	CCDS10726.1	16q12.1	2011-09-02			ENSG00000069345	ENSG00000069345		"""Heat shock proteins / DNAJ (HSP40)"""	14884	protein-coding gene	gene with protein product		611322				9710638, 11147971	Standard	NM_005880		Approved	HIRIP4, DNAJ, CPR3, DNJ3	uc002eeo.2	O60884	OTTHUMG00000133104	ENST00000317089.5:c.699C>T	16.37:g.46998598G>A						DNAJA2_uc002eep.2_Silent_p.F150F	p.F233F	NM_005880	NP_005871	O60884	DNJA2_HUMAN			6	841	-		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)	233					B2R7L7|O14711	Silent	SNP	ENST00000317089.5	37	c.699C>T	CCDS10726.1																																																																																				PASS	0.418	DNAJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256769.2			52	196	52	196	---	---	---	---
HSF4	3299	broad.mit.edu	37	16	67199689	67199689	+	Silent	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr16:67199689G>A	ENST00000521374.1	+	3	300	c.300G>A	c.(298-300)gaG>gaA	p.E100E	HSF4_ENST00000584272.1_Silent_p.E100E|HSF4_ENST00000421453.1_Silent_p.E100E|HSF4_ENST00000264009.8_Silent_p.E100E			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	100					camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.E100E(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		ACCACGTCGAGTTCCAGCACC	0.711																																						uc002erl.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(298-300)GAG>GAA		heat shock transcription factor 4 isoform b							12.0	16.0	14.0					16																	67199689		1977	4159	6136	SO:0001819	synonymous_variant	3299				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr16:67199689G>A	D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"""cataract, Marner"""	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.300G>A	16.37:g.67199689G>A						HSF4_uc002erm.1_Silent_p.E100E|HSF4_uc002ern.1_RNA|HSF4_uc010cec.1_RNA	p.E100E	NM_001040667	NP_001035757	Q9ULV5	HSF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	5	1265	+		Ovarian(137;0.0563)	100			By similarity.		Q99472|Q9ULV6	Silent	SNP	ENST00000521374.1	37	c.300G>A	CCDS42175.1																																																																																				PASS	0.711	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1	NM_001538		20	6	20	6	---	---	---	---
PSMB10	5699	broad.mit.edu	37	16	67968568	67968568	+	Silent	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr16:67968568G>A	ENST00000358514.4	-	8	1054	c.717C>T	c.(715-717)ggC>ggT	p.G239G	CTC-479C5.12_ENST00000573493.1_3'UTR|CTRL_ENST00000576408.1_5'Flank|CTRL_ENST00000574481.1_5'Flank	NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	239					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)|cell morphogenesis (GO:0000902)|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)|humoral immune response (GO:0006959)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|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)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)	p.G239G(2)		NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)	Carfilzomib(DB08889)	AGTGGTAGCGGCCAGACCTGG	0.597																																						uc002eux.1																			2	Substitution - coding silent(2)		lung(1)|endometrium(1)		0						c.(715-717)GGC>GGT		proteasome beta 10 subunit proprotein							111.0	109.0	109.0					16																	67968568		2198	4300	6498	SO:0001819	synonymous_variant	5699				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|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr16:67968568G>A	Y13640	CCDS10853.1	16q22.1	2008-02-05			ENSG00000205220	ENSG00000205220		"""Proteasome (prosome, macropain) subunits"""	9538	protein-coding gene	gene with protein product		176847		MECL1		8268911	Standard	NM_002801		Approved	LMP10, MGC1665, beta2i	uc002eux.2	P40306	OTTHUMG00000137553	ENST00000358514.4:c.717C>T	16.37:g.67968568G>A						CTRL_uc002euw.2_5'Flank	p.G239G	NM_002801	NP_002792	P40306	PSB10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)	8	818	-		Ovarian(137;0.0563)	239					B2R5J4|Q5U098	Silent	SNP	ENST00000358514.4	37	c.717C>T	CCDS10853.1																																																																																				PASS	0.597	PSMB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268887.1	NM_002801		4	174	4	174	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72821373	72821373	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr16:72821373G>C	ENST00000268489.5	-	10	11474	c.10802C>G	c.(10801-10803)tCg>tGg	p.S3601W	RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.S2687W|RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3601					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.S3601W(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGCGGCGGCCGACGGGGGAGG	0.652																																						uc002fck.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(10801-10803)TCG>TGG		zinc finger homeobox 3 isoform A							45.0	44.0	44.0					16																	72821373		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821373G>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10802C>G	16.37:g.72821373G>C	ENSP00000268489:p.Ser3601Trp					uc002fcj.1_Intron|ZFHX3_uc002fcl.2_Missense_Mutation_p.S2687W	p.S3601W	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			10	11475	-		Ovarian(137;0.13)	3601					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.10802C>G	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.596413	0.28445	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.51817	0.69;0.69	4.09	4.09	0.47781	.	0.388740	0.18818	N	0.130316	T	0.42404	0.1201	L	0.36672	1.1	0.80722	D	1	D	0.57571	0.98	P	0.45881	0.496	T	0.45673	-0.9245	10	0.87932	D	0	.	11.5521	0.50726	0.0:0.0:0.8209:0.179	.	3601	Q15911	ZFHX3_HUMAN	W	3601;2687	ENSP00000268489:S3601W;ENSP00000438926:S2687W	ENSP00000268489:S3601W	S	-	2	0	ZFHX3	71378874	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.054000	0.76649	1.997000	0.58415	0.557000	0.71058	TCG		PASS	0.652	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		12	50	12	50	---	---	---	---
SCARF1	8578	broad.mit.edu	37	17	1543260	1543260	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr17:1543260G>A	ENST00000263071.4	-	6	1134	c.1085C>T	c.(1084-1086)tCc>tTc	p.S362F	SCARF1_ENST00000574545.1_5'Flank|SCARF1_ENST00000571272.1_Missense_Mutation_p.S362F|SCARF1_ENST00000348987.3_Intron	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	362	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)	p.S362F(1)		cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGTATCACAGGACCCCTGAAC	0.642																																						uc002fsz.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1084-1086)TCC>TTC		scavenger receptor class F, member 1 isoform 1							70.0	72.0	71.0					17																	1543260		2203	4300	6503	SO:0001583	missense	8578				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity	g.chr17:1543260G>A	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1085C>T	17.37:g.1543260G>A	ENSP00000263071:p.Ser362Phe					SCARF1_uc002fsy.1_Missense_Mutation_p.S362F|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Intron	p.S362F	NM_003693	NP_003684	Q14162	SREC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	6	1135	-			362			Extracellular (Potential).|EGF-like 6.		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	37	c.1085C>T	CCDS11007.1	.	.	.	.	.	.	.	.	.	.	G	6.498	0.460164	0.12342	.	.	ENSG00000074660	ENST00000263071;ENST00000434376	T	0.62941	-0.01	4.86	2.81	0.32909	Growth factor, receptor (1);	0.882556	0.09446	N	0.801097	T	0.49729	0.1574	L	0.36672	1.1	0.18873	N	0.999981	B;B	0.33448	0.412;0.243	B;B	0.29077	0.087;0.098	T	0.43556	-0.9384	10	0.56958	D	0.05	-0.2843	8.5833	0.33642	0.1505:0.1814:0.6681:0.0	.	362;362	Q14162;Q14162-3	SREC_HUMAN;.	F	362	ENSP00000263071:S362F	ENSP00000263071:S362F	S	-	2	0	SCARF1	1490010	0.000000	0.05858	0.490000	0.27465	0.038000	0.13279	-0.037000	0.12164	1.269000	0.44280	0.561000	0.74099	TCC		PASS	0.642	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		16	50	16	50	---	---	---	---
ANKFY1	51479	broad.mit.edu	37	17	4084552	4084552	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr17:4084552C>A	ENST00000341657.4	-	16	2272	c.2237G>T	c.(2236-2238)cGc>cTc	p.R746L	ANKFY1_ENST00000570535.1_Missense_Mutation_p.R788L|ANKFY1_ENST00000574367.1_Missense_Mutation_p.R747L|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	746	Interaction with RHOD and RAB5A. {ECO:0000269|PubMed:24102721}.				endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)	p.R747L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CTCAGACCTGCGAATAAGAAA	0.522																																						uc002fxq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2236-2238)CGC>CTC		ankyrin repeat and FYVE domain containing 1							49.0	50.0	50.0					17																	4084552		1919	4158	6077	SO:0001583	missense	51479					endosome membrane	metal ion binding|protein binding	g.chr17:4084552C>A	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.2237G>T	17.37:g.4084552C>A	ENSP00000343362:p.Arg746Leu					ANKFY1_uc002fxn.2_Missense_Mutation_p.R788L|ANKFY1_uc002fxo.2_Missense_Mutation_p.R747L|ANKFY1_uc002fxp.2_Missense_Mutation_p.R745L|ANKFY1_uc010ckp.2_Missense_Mutation_p.R688L	p.R746L	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN			16	2275	-			746			ANK 12.		A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	ENST00000341657.4	37	c.2237G>T		.	.	.	.	.	.	.	.	.	.	C	19.74	3.883433	0.72410	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	.	.	.	5.09	5.09	0.68999	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.67439	0.2893	L	0.33093	0.98	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.80764	0.994;0.988;0.979;0.979	T	0.69363	-0.5165	9	0.52906	T	0.07	.	17.4819	0.87674	0.0:1.0:0.0:0.0	.	688;746;747;788	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	L	747;688	.	ENSP00000343362:R747L	R	-	2	0	ANKFY1	4031301	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	7.794000	0.85869	2.360000	0.80028	0.462000	0.41574	CGC		PASS	0.522	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376		25	11	25	11	---	---	---	---
ZNF232	7775	broad.mit.edu	37	17	5009402	5009402	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr17:5009402C>G	ENST00000250076.3	-	5	1706	c.1052G>C	c.(1051-1053)aGa>aCa	p.R351T	ZNF232_ENST00000575538.1_5'Flank|ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Missense_Mutation_p.R342T	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	324					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.R351T(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TGTATGAATTCTCTGATGCTG	0.458																																						uc002gas.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(970-972)AGA>ACA		zinc finger protein 232							105.0	107.0	106.0					17																	5009402		2203	4300	6503	SO:0001583	missense	7775				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:5009402C>G	AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"""-"", ""Zinc fingers, C2H2-type"""	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.1052G>C	17.37:g.5009402C>G	ENSP00000250076:p.Arg351Thr					ZNF232_uc002gar.1_Missense_Mutation_p.R342T|ZNF232_uc002gat.2_Missense_Mutation_p.R351T	p.R324T	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN			5	1725	-			324			C2H2-type 2.			Missense_Mutation	SNP	ENST00000250076.3	37	c.971G>C	CCDS11068.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.350291	0.41599	.	.	ENSG00000167840	ENST00000250076	T	0.25414	1.8	2.83	2.83	0.33086	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35378	N	0.003252	T	0.47801	0.1465	M	0.75150	2.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.993	T	0.53627	-0.8412	10	0.72032	D	0.01	.	11.8604	0.52463	0.0:1.0:0.0:0.0	.	324;315	Q9UNY5;Q9UNY5-2	ZN232_HUMAN;.	T	351	ENSP00000250076:R351T	ENSP00000250076:R351T	R	-	2	0	ZNF232	4950126	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	0.050000	0.14120	1.878000	0.54408	0.655000	0.94253	AGA		PASS	0.458	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216915.1	NM_014519		53	77	53	77	---	---	---	---
NEURL4	84461	broad.mit.edu	37	17	7232368	7232368	+	Silent	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr17:7232368G>A	ENST00000399464.2	-	1	279	c.264C>T	c.(262-264)acC>acT	p.T88T	NEURL4_ENST00000570460.1_Silent_p.T88T|NEURL4_ENST00000315614.7_Silent_p.T88T	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	88	NHR 1. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.T88T(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGATGCGGACGGTGAAGACGC	0.672																																						uc002gga.1																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(262-264)ACC>ACT		neuralized homolog 4 isoform 1							24.0	29.0	27.0					17																	7232368		2005	4169	6174	SO:0001819	synonymous_variant	84461						protein binding	g.chr17:7232368G>A		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.264C>T	17.37:g.7232368G>A						NEURL4_uc002ggb.1_Silent_p.T88T|NEURL4_uc002ggc.1_5'Flank	p.T88T	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN			1	271	-			88			NHR 1.		Q6GPI8|Q96IU9|Q9H0B0	Silent	SNP	ENST00000399464.2	37	c.264C>T	CCDS42251.1																																																																																				PASS	0.672	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		23	10	23	10	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578478	7578478	+	Missense_Mutation	SNP	G	G	C	rs137852790|rs137852791		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr17:7578478G>C	ENST00000269305.4	-	5	641	c.452C>G	c.(451-453)cCc>cGc	p.P151R	TP53_ENST00000420246.2_Missense_Mutation_p.P151R|TP53_ENST00000413465.2_Missense_Mutation_p.P151R|TP53_ENST00000359597.4_Missense_Mutation_p.P151R|TP53_ENST00000455263.2_Missense_Mutation_p.P151R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.P151R	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	151	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874). {ECO:0000269|PubMed:7682763}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P151H(31)|p.P151R(9)|p.0?(8)|p.P151L(7)|p.T150fs*16(6)|p.?(5)|p.P58H(2)|p.P19H(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*28(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P58R(1)|p.Q144_G154del11(1)|p.P19R(1)|p.Q144fs*16(1)|p.P152fs*14(1)|p.P151fs*30(1)|p.T18fs*16(1)|p.T150_P151delTP(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)	GCCGGGCGGGGGTGTGGAATC	0.607		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		90	Substitution - Missense(53)|Deletion - Frameshift(14)|Deletion - In frame(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(2)	p.P151S(61)|p.P151H(25)|p.P151T(13)|p.P151P(12)|p.P151A(8)|p.0?(7)|p.P151fs*30(7)|p.P151L(6)|p.P151R(6)|p.T150fs*16(3)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*28(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.P152fs*14(1)|p.T150_P151delTP(1)	lung(17)|large_intestine(13)|ovary(10)|skin(8)|oesophagus(8)|breast(6)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|central_nervous_system(4)|bone(4)|upper_aerodigestive_tract(3)|soft_tissue(2)|urinary_tract(2)|liver(2)|vulva(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(451-453)CCC>CGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							54.0	55.0	55.0					17																	7578478		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.chr17:7578478G>C	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.452C>G	17.37:g.7578478G>C	ENSP00000269305:p.Pro151Arg	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.P151R|TP53_uc002gih.2_Missense_Mutation_p.P151R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P19R|TP53_uc010cng.1_Missense_Mutation_p.P19R|TP53_uc002gii.1_Missense_Mutation_p.P19R|TP53_uc010cnh.1_Missense_Mutation_p.P151R|TP53_uc010cni.1_Missense_Mutation_p.P151R|TP53_uc002gij.2_Missense_Mutation_p.P151R|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.P58R|TP53_uc002gio.2_Missense_Mutation_p.P19R|TP53_uc010vug.1_Missense_Mutation_p.P112R	p.P151R	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	646	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	151		P -> R (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.452C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.749177	0.49257	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	5.59	4.63	0.57726	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110207	0.64402	D	0.000007	D	0.99891	0.9948	M	0.91406	3.205	0.54753	D	0.999985	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.999;0.999;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.994;0.996;0.991;0.997;0.997;1.0	D	0.96236	0.9172	10	0.87932	D	0	-14.1156	12.4691	0.55777	0.0812:0.0:0.9188:0.0	.	112;151;151;58;151;151;151	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	151;151;151;151;151;151;140;58;19;58;19;151	ENSP00000410739:P151R;ENSP00000352610:P151R;ENSP00000269305:P151R;ENSP00000398846:P151R;ENSP00000391127:P151R;ENSP00000391478:P151R;ENSP00000425104:P19R;ENSP00000423862:P58R;ENSP00000424104:P151R	ENSP00000269305:P151R	P	-	2	0	TP53	7519203	1.000000	0.71417	0.974000	0.42286	0.058000	0.15608	6.711000	0.74675	1.515000	0.48885	0.655000	0.94253	CCC		PASS	0.607	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		32	16	32	16	---	---	---	---
MYOCD	93649	broad.mit.edu	37	17	12666802	12666802	+	Silent	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr17:12666802C>A	ENST00000343344.4	+	13	2658	c.2658C>A	c.(2656-2658)ccC>ccA	p.P886P	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000425538.1_Silent_p.P934P			Q8IZQ8	MYCD_HUMAN	myocardin	886					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.P934P(1)|p.P886P(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CTGAATCTCCCTGGGAAACCA	0.547																																						uc002gnn.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|skin(2)|ovary(1)	5						c.(2656-2658)CCC>CCA		myocardin isoform 2							78.0	68.0	71.0					17																	12666802		2203	4300	6503	SO:0001819	synonymous_variant	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12666802C>A	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2658C>A	17.37:g.12666802C>A						MYOCD_uc002gno.2_Silent_p.P934P|MYOCD_uc002gnq.2_Silent_p.P610P	p.P886P	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	13	2957	+			886					Q5UBU5|Q8N7Q1	Silent	SNP	ENST00000343344.4	37	c.2658C>A	CCDS11163.1																																																																																				PASS	0.547	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		11	20	11	20	---	---	---	---
FBXW10	10517	broad.mit.edu	37	17	18647967	18647967	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr17:18647967C>T	ENST00000395665.4	+	1	631	c.410C>T	c.(409-411)aCt>aTt	p.T137I	FBXW10_ENST00000395667.1_Missense_Mutation_p.T137I|FBXW10_ENST00000301938.4_Missense_Mutation_p.T137I|FBXW10_ENST00000308799.4_Missense_Mutation_p.T137I			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	137								p.T137I(1)		NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GCGAATTATACTCTCTTACTG	0.438																																						uc002guk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(409-411)ACT>ATT		F-box and WD-40 domain protein 10							103.0	104.0	103.0					17																	18647967		2203	4300	6503	SO:0001583	missense	10517							g.chr17:18647967C>T	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.410C>T	17.37:g.18647967C>T	ENSP00000379025:p.Thr137Ile					FBXW10_uc002guj.2_Missense_Mutation_p.T137I|FBXW10_uc002gul.2_Missense_Mutation_p.T137I|FBXW10_uc010cqh.1_Missense_Mutation_p.T137I	p.T137I	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN			1	642	+			137					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	c.410C>T	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	c	3.612	-0.079415	0.07141	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.26067	1.76;1.76;1.76;1.76	3.31	2.32	0.28847	.	0.133069	0.49916	N	0.000124	T	0.21062	0.0507	L	0.45581	1.43	0.28282	N	0.92393	B;B;B;B	0.26081	0.015;0.141;0.009;0.021	B;B;B;B	0.26202	0.046;0.067;0.021;0.022	T	0.14090	-1.0485	10	0.52906	T	0.07	.	8.0739	0.30706	0.0:0.8726:0.0:0.1274	.	137;137;137;137	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	I	137	ENSP00000379026:T137I;ENSP00000310382:T137I;ENSP00000306937:T137I;ENSP00000379025:T137I	ENSP00000306937:T137I	T	+	2	0	FBXW10	18588692	0.555000	0.26530	0.076000	0.20297	0.513000	0.34164	1.429000	0.34903	0.573000	0.29400	0.405000	0.27470	ACT		PASS	0.438	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		71	36	71	36	---	---	---	---
RAB34	83871	broad.mit.edu	37	17	27041699	27041699	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr17:27041699G>C	ENST00000395245.3	-	10	1368	c.742C>G	c.(742-744)Cta>Gta	p.L248V	RAB34_ENST00000301043.6_Missense_Mutation_p.L248V|RAB34_ENST00000415040.2_Missense_Mutation_p.L226V|RAB34_ENST00000453384.3_Intron|RAB34_ENST00000395243.3_Missense_Mutation_p.L240V|RAB34_ENST00000395242.2_Missense_Mutation_p.L249V|RAB34_ENST00000450529.1_Missense_Mutation_p.L240V|PROCA1_ENST00000301039.2_5'Flank|PROCA1_ENST00000581289.1_5'Flank|RAB34_ENST00000436730.3_Missense_Mutation_p.L248V|RAB34_ENST00000447716.1_Missense_Mutation_p.L305V	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	248					antigen processing and presentation (GO:0019882)|Golgi to plasma membrane protein transport (GO:0043001)|lysosome localization (GO:0032418)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|vesicle (GO:0031982)	GTP binding (GO:0005525)	p.L248V(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					CTGGCAGTTAGGTAGAGGTTG	0.552																																					Pancreas(175;216 2049 29940 32498 41589)	uc002hce.2																			1	Substitution - Missense(1)		lung(1)		0						c.(742-744)CTA>GTA		Ras-related protein RAB34 isoform 1							104.0	92.0	96.0					17																	27041699		2203	4300	6503	SO:0001583	missense	83871				protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding	g.chr17:27041699G>C	AF322067	CCDS11240.1, CCDS45636.1, CCDS54101.1, CCDS58536.1	17q11.2	2008-07-18			ENSG00000109113	ENSG00000109113		"""RAB, member RAS oncogene"""	16519	protein-coding gene	gene with protein product		610917				12446704	Standard	NM_031934		Approved	RAB39, RAH	uc010was.1	P0DI83	OTTHUMG00000132680	ENST00000395245.3:c.742C>G	17.37:g.27041699G>C	ENSP00000378666:p.Leu248Val					PROCA1_uc002hca.1_5'Flank|RAB34_uc002hcg.2_Missense_Mutation_p.L240V|RAB34_uc002hcf.2_Missense_Mutation_p.L249V|RAB34_uc010was.1_Missense_Mutation_p.L305V|RAB34_uc010wat.1_Missense_Mutation_p.L297V|RAB34_uc002hch.2_Missense_Mutation_p.L248V|RAB34_uc010wau.1_Missense_Mutation_p.L226V|RAB34_uc010wav.1_Intron	p.L248V	NM_031934	NP_114140	Q9BZG1	RAB34_HUMAN			10	1366	-	Lung NSC(42;0.00431)		248					B4E3A0|E9PEJ9|Q5BJE6|Q8NCJ8|Q96AR4	Missense_Mutation	SNP	ENST00000395245.3	37	c.742C>G	CCDS11240.1	.	.	.	.	.	.	.	.	.	.	G	8.930	0.963260	0.18583	.	.	ENSG00000109113	ENST00000447716;ENST00000301043;ENST00000395243;ENST00000415040;ENST00000450529;ENST00000395242;ENST00000395245	T;T;T;T;T;T	0.70045	-0.05;-0.01;-0.45;0.3;-0.01;-0.01	5.62	3.64	0.41730	.	0.510419	0.20530	N	0.090531	T	0.47619	0.1455	N	0.14661	0.345	0.23930	N	0.996439	B;B;B;B;B	0.22080	0.009;0.029;0.064;0.02;0.023	B;B;B;B;B	0.20384	0.004;0.029;0.019;0.013;0.006	T	0.51949	-0.8640	9	0.30078	T	0.28	-0.5301	11.1833	0.48642	0.1505:0.0:0.8495:0.0	.	226;240;263;249;248	E9PEJ9;Q9BZG1-2;B4DNC0;A8MYQ9;Q9BZG1	.;.;.;.;RAB34_HUMAN	V	305;248;240;226;263;249;248	ENSP00000410403:L305V;ENSP00000301043:L248V;ENSP00000378664:L240V;ENSP00000410279:L226V;ENSP00000378663:L249V;ENSP00000378666:L248V	ENSP00000301043:L248V	L	-	1	2	RAB34	24065826	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.338000	0.43957	0.738000	0.32606	-0.253000	0.11424	CTA		PASS	0.552	RAB34-018	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345906.1	NM_031934		44	64	44	64	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27963527	27963527	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr17:27963527T>C	ENST00000269033.3	-	14	1791	c.1640A>G	c.(1639-1641)aAc>aGc	p.N547S	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.N574S	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	547					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.N547S(1)	SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCATTTAAGTTTAATTCATC	0.393																																						uc002heo.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1639-1641)AAC>AGC		slingshot 2							111.0	104.0	107.0					17																	27963527		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27963527T>C	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1640A>G	17.37:g.27963527T>C	ENSP00000269033:p.Asn547Ser					SSH2_uc010wbh.1_Missense_Mutation_p.N574S	p.N547S	NM_033389	NP_203747	Q76I76	SSH2_HUMAN			14	1640	-			547					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.1640A>G	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.008991	0.75046	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.42900	0.96;0.96	6.16	6.16	0.99307	.	0.313031	0.34828	N	0.003647	T	0.63570	0.2522	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.60717	-0.7208	10	0.36615	T	0.2	-21.281	16.8061	0.85666	0.0:0.0:0.0:1.0	.	574;547	F5H527;Q76I76	.;SSH2_HUMAN	S	547;574	ENSP00000269033:N547S;ENSP00000444743:N574S	ENSP00000269033:N547S	N	-	2	0	SSH2	24987653	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.793000	0.55484	2.367000	0.80283	0.528000	0.53228	AAC		PASS	0.393	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		62	100	62	100	---	---	---	---
CRLF3	51379	broad.mit.edu	37	17	29119460	29119460	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr17:29119460G>C	ENST00000324238.6	-	6	1081	c.957C>G	c.(955-957)ttC>ttG	p.F319L	CTD-2349P21.9_ENST00000580085.1_lincRNA|CRLF3_ENST00000544695.1_Missense_Mutation_p.F203L|CRLF3_ENST00000577725.1_Intron	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	319					G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cell growth (GO:0030308)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)		p.F319L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				CTACTTGCCTGAATGTTAATG	0.418																																					Pancreas(30;346 881 29244 33464 41299)	uc002hfr.3																			1	Substitution - Missense(1)		lung(1)		0						c.(955-957)TTC>TTG		cytokine receptor-like factor 3							115.0	111.0	112.0					17																	29119460		2203	4300	6503	SO:0001583	missense	51379				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm		g.chr17:29119460G>C	AF120151	CCDS32607.1	17q11.2	2008-05-02				ENSG00000176390			17177	protein-coding gene	gene with protein product		614853					Standard	NM_015986		Approved	CREME9, CYTOR4	uc002hfr.4	Q8IUI8		ENST00000324238.6:c.957C>G	17.37:g.29119460G>C	ENSP00000318804:p.Phe319Leu					CRLF3_uc010wbr.1_Missense_Mutation_p.F203L	p.F319L	NM_015986	NP_057070	Q8IUI8	CRLF3_HUMAN			6	1066	-		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)	319					A6NJF3|B2R8C3|Q2MLY7|Q9UNI3|Q9Y6M8	Missense_Mutation	SNP	ENST00000324238.6	37	c.957C>G	CCDS32607.1	.	.	.	.	.	.	.	.	.	.	G	35	5.548789	0.96488	.	.	ENSG00000176390	ENST00000324238;ENST00000544695	T;T	0.65549	-0.16;-0.16	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.78773	0.4336	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78198	-0.2297	10	0.48119	T	0.1	-5.7154	19.3434	0.94355	0.0:0.0:1.0:0.0	.	319	Q8IUI8	CRLF3_HUMAN	L	319;203	ENSP00000318804:F319L;ENSP00000444188:F203L	ENSP00000318804:F319L	F	-	3	2	CRLF3	26143586	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.391000	0.97249	2.560000	0.86352	0.591000	0.81541	TTC		PASS	0.418	CRLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444354.1			25	115	25	115	---	---	---	---
C17orf102	400591	broad.mit.edu	37	17	32906212	32906212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr17:32906212G>A	ENST00000357754.1	-	1	176	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	TMEM132E_ENST00000321639.5_5'Flank	NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	30								p.Q30*(1)		central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						AAACGCAGCTGAGGGAGGTGG	0.627																																						uc002hie.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(88-90)CAG>TAG		hypothetical protein LOC400591							16.0	21.0	19.0					17																	32906212		1901	4104	6005	SO:0001587	stop_gained	400591							g.chr17:32906212G>A		CCDS42297.1	17q12	2009-02-11			ENSG00000197322	ENSG00000197322			34412	protein-coding gene	gene with protein product							Standard	NM_207454		Approved	FLJ44815	uc002hie.1	A2RUQ5	OTTHUMG00000156883	ENST00000357754.1:c.88C>T	17.37:g.32906212G>A	ENSP00000350392:p.Gln30*					TMEM132E_uc002hif.2_5'Flank	p.Q30*	NM_207454	NP_997337	A2RUQ5	CQ102_HUMAN			1	177	-			30					A5PKX0|Q6ZTB3	Nonsense_Mutation	SNP	ENST00000357754.1	37	c.88C>T	CCDS42297.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641077	0.47153	.	.	ENSG00000197322	ENST00000357754	.	.	.	0.528	0.528	0.17089	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	.	.	.	.	.	.	.	X	30	.	ENSP00000350392:Q30X	Q	-	1	0	C17orf102	29930325	0.002000	0.14202	0.007000	0.13788	0.005000	0.04900	0.170000	0.16663	0.567000	0.29293	0.121000	0.15741	CAG		PASS	0.627	C17orf102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346435.1	NM_207454		11	31	11	31	---	---	---	---
PIP4K2B	8396	broad.mit.edu	37	17	36940500	36940500	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr17:36940500T>A	ENST00000269554.3	-	3	830	c.350A>T	c.(349-351)tAc>tTc	p.Y117F	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	117	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)	p.Y117F(1)		endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						CCATACCTGGTAATCCTGATC	0.493																																						uc002hqs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(349-351)TAC>TTC		phosphatidylinositol-5-phosphate 4-kinase, type							90.0	74.0	79.0					17																	36940500		2203	4300	6503	SO:0001583	missense	8396				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity	g.chr17:36940500T>A	U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"""phosphatidylinositol-4-phosphate 5-kinase, type II, beta"""	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.350A>T	17.37:g.36940500T>A	ENSP00000269554:p.Tyr117Phe					PIP4K2B_uc010wdt.1_Missense_Mutation_p.Y117F|PIP4K2B_uc010wdu.1_Missense_Mutation_p.Y53F	p.Y117F	NM_003559	NP_003550	P78356	PI42B_HUMAN			3	831	-			117			PIPK.		Q5U0E8|Q8TBP2	Missense_Mutation	SNP	ENST00000269554.3	37	c.350A>T	CCDS11329.1	.	.	.	.	.	.	.	.	.	.	T	12.60	1.985710	0.35036	.	.	ENSG00000141720	ENST00000269554;ENST00000311500	T	0.35421	1.31	5.41	5.41	0.78517	Phosphatidylinositol-4-phosphate 5-kinase, core (1);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.33990	0.0882	L	0.35644	1.08	0.80722	D	1	B;B;B	0.26483	0.093;0.15;0.017	B;B;B	0.33568	0.08;0.166;0.029	T	0.11966	-1.0566	10	0.40728	T	0.16	-17.9752	14.4184	0.67165	0.0:0.0:0.0:1.0	.	117;117;117	C9JMM2;P78356-2;P78356	.;.;PI42B_HUMAN	F	117	ENSP00000269554:Y117F	ENSP00000269554:Y117F	Y	-	2	0	PIP4K2B	34194026	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	3.079000	0.50104	2.279000	0.76181	0.459000	0.35465	TAC		PASS	0.493	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559		15	41	15	41	---	---	---	---
KCNH4	23415	broad.mit.edu	37	17	40317507	40317507	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr17:40317507C>T	ENST00000264661.3	-	11	2377	c.2045G>A	c.(2044-2046)cGg>cAg	p.R682Q	KCNH4_ENST00000607371.1_Missense_Mutation_p.R682Q	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	682					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.R682Q(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGTGAGGTCCCGGGGCAGGCC	0.632																																					NSCLC(117;707 1703 2300 21308 31858)	uc002hzb.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(2044-2046)CGG>CAG		potassium voltage-gated channel, subfamily H,							70.0	67.0	68.0					17																	40317507		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40317507C>T	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.2045G>A	17.37:g.40317507C>T	ENSP00000264661:p.Arg682Gln						p.R682Q	NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	11	2378	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	682			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000264661.3	37	c.2045G>A	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838832	0.32513	.	.	ENSG00000089558	ENST00000264661	D	0.98617	-5.03	3.92	3.92	0.45320	Cyclic nucleotide-binding-like (1);	0.000000	0.34802	N	0.003672	D	0.94624	0.8267	N	0.24115	0.695	0.37930	D	0.931992	B	0.23650	0.089	B	0.17433	0.018	D	0.91783	0.5437	10	0.45353	T	0.12	.	4.8974	0.13757	0.0:0.7243:0.0:0.2757	.	682	Q9UQ05	KCNH4_HUMAN	Q	682	ENSP00000264661:R682Q	ENSP00000264661:R682Q	R	-	2	0	KCNH4	37571033	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	3.879000	0.56138	2.201000	0.70794	0.561000	0.74099	CGG		PASS	0.632	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		5	140	5	140	---	---	---	---
C1QL1	10882	broad.mit.edu	37	17	43045094	43045094	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr17:43045094G>T	ENST00000253407.3	-	1	345	c.323C>A	c.(322-324)cCg>cAg	p.P108Q		NM_006688.3	NP_006679.1	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	108	Collagen-like.				locomotory behavior (GO:0007626)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.P108Q(1)		lung(1)|prostate(1)	2		Prostate(33;0.155)				cggcagccccggagggcccgg	0.776																																						uc002ihv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(322-324)CCG>CAG		complement component 1, q subcomponent-like 1							13.0	15.0	14.0					17																	43045094		2186	4246	6432	SO:0001583	missense	10882				locomotory behavior	collagen		g.chr17:43045094G>T	AF410771	CCDS11492.1	17q21	2010-08-18			ENSG00000131094	ENSG00000131094			24182	protein-coding gene	gene with protein product		611586				9878755	Standard	NM_006688		Approved	CRF, C1QRF, C1QTNF14	uc002ihv.3	O75973	OTTHUMG00000162944	ENST00000253407.3:c.323C>A	17.37:g.43045094G>T	ENSP00000253407:p.Pro108Gln						p.P108Q	NM_006688	NP_006679	O75973	C1QRF_HUMAN			1	551	-		Prostate(33;0.155)	108			Collagen-like.			Missense_Mutation	SNP	ENST00000253407.3	37	c.323C>A	CCDS11492.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.977343	0.34848	.	.	ENSG00000131094	ENST00000253407	T	0.71579	-0.58	4.4	3.4	0.38934	.	0.144785	0.47093	D	0.000257	T	0.60366	0.2263	L	0.44542	1.39	0.35426	D	0.793676	B	0.13145	0.007	B	0.11329	0.006	T	0.62048	-0.6936	10	0.30854	T	0.27	.	11.1722	0.48577	0.0:0.0:0.8145:0.1855	.	108	O75973	C1QRF_HUMAN	Q	108	ENSP00000253407:P108Q	ENSP00000253407:P108Q	P	-	2	0	C1QL1	40400620	0.998000	0.40836	0.592000	0.28758	0.761000	0.43186	2.910000	0.48766	1.004000	0.39156	0.462000	0.41574	CCG		PASS	0.776	C1QL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371119.3	NM_006688		16	38	16	38	---	---	---	---
EFCAB13	124989	broad.mit.edu	37	17	45473328	45473328	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr17:45473328C>A	ENST00000331493.2	+	17	2341	c.1930C>A	c.(1930-1932)Cta>Ata	p.L644I	EFCAB13_ENST00000517484.1_Missense_Mutation_p.L548I	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	644	EF-hand 3.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.L644I(1)									TGCATTGGAACTAGTGACAGT	0.328																																						uc002iln.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)|skin(1)	3						c.(1930-1932)CTA>ATA		hypothetical protein LOC124989							94.0	103.0	100.0					17																	45473328		2203	4300	6503	SO:0001583	missense	124989						calcium ion binding	g.chr17:45473328C>A	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.1930C>A	17.37:g.45473328C>A	ENSP00000332111:p.Leu644Ile					C17orf57_uc002ilm.2_Missense_Mutation_p.L548I	p.L644I	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN			17	2341	+			644			EF-hand 3.		G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	c.1930C>A	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	c	0.947	-0.707523	0.03230	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000523842	T;T;T	0.27256	1.68;1.68;1.68	3.81	-2.16	0.07080	EF-hand-like domain (1);	1.016830	0.07910	N	0.974118	T	0.24236	0.0587	L	0.59436	1.845	0.09310	N	1	B;B	0.28055	0.199;0.199	B;B	0.34452	0.183;0.183	T	0.40924	-0.9537	10	0.38643	T	0.18	-1.3022	4.5956	0.12327	0.0:0.2586:0.1805:0.5609	.	644;548	Q8IY85;G3V128	CQ057_HUMAN;.	I	644;548;170	ENSP00000332111:L644I;ENSP00000430048:L548I;ENSP00000429566:L170I	ENSP00000332111:L644I	L	+	1	2	C17orf57	42828327	0.006000	0.16342	0.000000	0.03702	0.002000	0.02628	0.025000	0.13577	-0.401000	0.07644	-0.233000	0.12211	CTA		PASS	0.328	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		50	87	50	87	---	---	---	---
COL1A1	1277	broad.mit.edu	37	17	48266307	48266307	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr17:48266307C>T	ENST00000225964.5	-	41	3120	c.3002G>A	c.(3001-3003)gGc>gAc	p.G1001D		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1001	Triple-helical region.		G -> C (in OI2). {ECO:0000269|PubMed:18996919}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.G1001D(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	TCCAGGGGGGCCCATGGGACC	0.612			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															uc002iqm.2				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	PDGFB|USP6		dermatofibrosarcoma protuberans|aneurysmal bone cyst 	COL1A1/PDGFB(372)	1	Substitution - Missense(1)		lung(1)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382						c.(3001-3003)GGC>GAC		alpha 1 type I collagen preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						59.0	63.0	62.0					17																	48266307		2202	4300	6502	SO:0001583	missense	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48266307C>T	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.3002G>A	17.37:g.48266307C>T	ENSP00000225964:p.Gly1001Asp						p.G1001D	NM_000088	NP_000079	P02452	CO1A1_HUMAN			41	3128	-			1001		G -> C (in OI2A).	Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	c.3002G>A	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737367	0.69304	.	.	ENSG00000108821	ENST00000225964	D	0.97016	-4.21	4.02	4.02	0.46733	.	0.066583	0.64402	N	0.000014	D	0.98826	0.9604	H	0.97918	4.105	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.99289	1.0898	10	0.87932	D	0	.	15.1435	0.72630	0.0:1.0:0.0:0.0	.	1001	P02452	CO1A1_HUMAN	D	1001	ENSP00000225964:G1001D	ENSP00000225964:G1001D	G	-	2	0	COL1A1	45621306	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.572000	0.82409	2.103000	0.63969	0.298000	0.19748	GGC		PASS	0.612	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			30	116	30	116	---	---	---	---
ANKFN1	162282	broad.mit.edu	37	17	54428207	54428207	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr17:54428207C>A	ENST00000318698.2	+	4	313	c.278C>A	c.(277-279)cCc>cAc	p.P93H	ANKFN1_ENST00000566473.2_Missense_Mutation_p.P93H	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	93								p.P93H(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CCCTCATCTCCCAACGCAGCC	0.453																																						uc002iun.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(277-279)CCC>CAC		ankyrin-repeat and fibronectin type III domain							96.0	95.0	96.0					17																	54428207		2203	4300	6503	SO:0001583	missense	162282							g.chr17:54428207C>A	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.278C>A	17.37:g.54428207C>A	ENSP00000321627:p.Pro93His						p.P93H	NM_153228	NP_694960	Q8N957	ANKF1_HUMAN			4	313	+			93						Missense_Mutation	SNP	ENST00000318698.2	37	c.278C>A	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862000	0.91433	.	.	ENSG00000153930	ENST00000318698	T	0.54479	0.57	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.71753	0.3377	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72308	-0.4332	10	0.87932	D	0	.	20.139	0.98050	0.0:1.0:0.0:0.0	.	93	Q8N957	ANKF1_HUMAN	H	93	ENSP00000321627:P93H	ENSP00000321627:P93H	P	+	2	0	ANKFN1	51783206	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.818000	0.86416	2.764000	0.94973	0.655000	0.94253	CCC		PASS	0.453	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		51	74	51	74	---	---	---	---
DCAF7	10238	broad.mit.edu	37	17	61661022	61661022	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr17:61661022G>C	ENST00000310827.4	+	6	904	c.687G>C	c.(685-687)tgG>tgC	p.W229C	DCAF7_ENST00000431926.1_Intron|DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000415273.2_Intron	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	229					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.W228C(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						GCCTCTGCTGGAACAAGCAGG	0.572																																						uc002jbc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(685-687)TGG>TGC		WD-repeat protein							83.0	87.0	85.0					17																	61661022		2131	4243	6374	SO:0001583	missense	10238				multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding	g.chr17:61661022G>C	U94747	CCDS74127.1	17q23.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000136485		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30915	protein-coding gene	gene with protein product	"""seven-WD-repeat protein of the AN11 family-1"", ""human anthocyanin"""	605973	"""WD repeat domain 68"""	WDR68		9192870, 20940704	Standard	NM_005828		Approved	HAN11, SWAN-1	uc002jbc.4	P61962		ENST00000310827.4:c.687G>C	17.37:g.61661022G>C	ENSP00000308344:p.Trp229Cys					DCAF7_uc002jbb.2_RNA|DCAF7_uc010wpn.1_Intron	p.W229C	NM_005828	NP_005819	P61962	DCAF7_HUMAN			6	904	+			229					B4E039|D3DU14|O15491|Q9DAE4	Missense_Mutation	SNP	ENST00000310827.4	37	c.687G>C		.	.	.	.	.	.	.	.	.	.	G	26.0	4.697485	0.88830	.	.	ENSG00000136485	ENST00000310827	T	0.66995	-0.24	5.29	5.29	0.74685	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	0.78483	0.4290	.	.	.	0.80722	D	1	P	0.41450	0.75	P	0.52710	0.707	T	0.79055	-0.1960	9	0.59425	D	0.04	-18.3566	19.1338	0.93418	0.0:0.0:1.0:0.0	.	229	P61962	DCAF7_HUMAN	C	229	ENSP00000308344:W229C	ENSP00000308344:W229C	W	+	3	0	DCAF7	59014754	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.752000	0.94435	0.655000	0.94253	TGG		PASS	0.572	DCAF7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005828		13	39	13	39	---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62018997	62018997	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr17:62018997C>T	ENST00000435607.1	-	24	4721	c.4645G>A	c.(4645-4647)Ggg>Agg	p.G1549R	SCN4A_ENST00000578147.1_Missense_Mutation_p.G1549R	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1549					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.G1549R(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTGGGGGCCCGCTGTTGAGG	0.597																																						uc002jds.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(4645-4647)GGG>AGG		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						31.0	36.0	34.0					17																	62018997		2126	4252	6378	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62018997C>T	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4645G>A	17.37:g.62018997C>T	ENSP00000396320:p.Gly1549Arg						p.G1549R	NM_000334	NP_000325	P35499	SCN4A_HUMAN			24	4722	-			1549			IV.		Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.4645G>A	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	c	13.84	2.355958	0.41700	.	.	ENSG00000007314	ENST00000435607	D	0.98264	-4.83	3.9	3.9	0.45041	Ion transport (1);	0.167546	0.52532	D	0.000079	D	0.97470	0.9172	L	0.45051	1.395	0.51767	D	0.999933	D	0.71674	0.998	P	0.55923	0.787	D	0.96526	0.9389	10	0.30078	T	0.28	.	15.4266	0.75055	0.0:1.0:0.0:0.0	.	1549	P35499	SCN4A_HUMAN	R	1549	ENSP00000396320:G1549R	ENSP00000396320:G1549R	G	-	1	0	SCN4A	59372729	0.991000	0.36638	1.000000	0.80357	0.869000	0.49853	3.741000	0.55090	2.177000	0.69029	0.556000	0.70494	GGG		PASS	0.597	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		4	38	4	38	---	---	---	---
KPNA2	3838	broad.mit.edu	37	17	66040122	66040122	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr17:66040122C>T	ENST00000537025.2	+	8	1719	c.1099C>T	c.(1099-1101)Cag>Tag	p.Q367*	KPNA2_ENST00000330459.3_Nonsense_Mutation_p.Q367*			P52292	IMA1_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	367	NLS binding site (minor). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|DNA metabolic process (GO:0006259)|NLS-bearing protein import into nucleus (GO:0006607)|regulation of DNA recombination (GO:0000018)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.Q367*(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGCCGGCCGCCAGGACCAGAT	0.468																																						uc002jgk.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(2)	2						c.(1099-1101)CAG>TAG		karyopherin alpha 2							204.0	212.0	210.0					17																	66040122		2203	4296	6499	SO:0001587	stop_gained	3838				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity	g.chr17:66040122C>T	U09559	CCDS32713.1	17q24.2	2013-02-14						"""Importins"", ""Armadillo repeat containing"""	6395	protein-coding gene	gene with protein product		600685		RCH1		8016130, 7754385	Standard	NM_002266		Approved	SRP1alpha, IPOA1, QIP2	uc002jgk.3	P52292		ENST00000537025.2:c.1099C>T	17.37:g.66040122C>T	ENSP00000438483:p.Gln367*					KPNA2_uc002jgl.2_Nonsense_Mutation_p.Q367*	p.Q367*	NM_002266	NP_002257	P52292	IMA2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		8	1231	+	all_cancers(12;1.18e-09)		367			NLS binding site (minor) (By similarity).|ARM 8.		B9EJD6|Q53YE3|Q9BRU5	Nonsense_Mutation	SNP	ENST00000537025.2	37	c.1099C>T	CCDS32713.1	.	.	.	.	.	.	.	.	.	.	C	42	9.821793	0.99272	.	.	ENSG00000182481	ENST00000330459;ENST00000537025	.	.	.	5.51	5.51	0.81932	.	0.129167	0.52532	U	0.000075	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	19.4797	0.95005	0.0:1.0:0.0:0.0	.	.	.	.	X	367	.	ENSP00000332455:Q367X	Q	+	1	0	KPNA2	63470584	0.999000	0.42202	1.000000	0.80357	0.851000	0.48451	3.900000	0.56295	2.591000	0.87537	0.552000	0.68991	CAG		PASS	0.468	KPNA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448111.1	NM_002266		63	215	63	215	---	---	---	---
KIAA0195	9772	broad.mit.edu	37	17	73486809	73486809	+	Silent	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr17:73486809C>T	ENST00000314256.7	+	11	1492	c.1098C>T	c.(1096-1098)ctC>ctT	p.L366L	KIAA0195_ENST00000375248.5_Silent_p.L376L|KIAA0195_ENST00000579208.1_Silent_p.L17L	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	366						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.L366L(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGATACTCTCAGCAGCTATA	0.572																																						uc002jnz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1096-1098)CTC>CTT		hypothetical protein LOC9772							90.0	76.0	81.0					17																	73486809		2203	4300	6503	SO:0001819	synonymous_variant	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73486809C>T		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.1098C>T	17.37:g.73486809C>T						KIAA0195_uc010wsa.1_Silent_p.L376L|KIAA0195_uc010wsb.1_Silent_p.L18L	p.L366L	NM_014738	NP_055553	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		11	1373	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		366					O75536|Q86XF1	Silent	SNP	ENST00000314256.7	37	c.1098C>T	CCDS32732.1																																																																																				PASS	0.572	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		12	88	12	88	---	---	---	---
SAP30BP	29115	broad.mit.edu	37	17	73702548	73702548	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr17:73702548A>G	ENST00000584667.1	+	11	1131	c.874A>G	c.(874-876)Aag>Gag	p.K292E	SAP30BP_ENST00000355423.3_Missense_Mutation_p.K276E	NM_013260.6	NP_037392.1			SAP30 binding protein									p.K292E(1)		kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGCGGCTCCAAGACCACCGT	0.612																																						uc002jpe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(874-876)AAG>GAG		transcriptional regulator protein							152.0	128.0	136.0					17																	73702548		2203	4300	6503	SO:0001583	missense	29115				apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr17:73702548A>G	AY082382	CCDS11726.1	17q25.1	2006-01-05				ENSG00000161526			30785	protein-coding gene	gene with protein product		610218				15496587	Standard	NM_013260		Approved	HCNGP, HTRG, HTRP	uc002jpe.3	Q9UHR5		ENST00000584667.1:c.874A>G	17.37:g.73702548A>G	ENSP00000462116:p.Lys292Glu					SAP30BP_uc002jpc.1_RNA|SAP30BP_uc010wsf.1_RNA|SAP30BP_uc010wsg.1_RNA|SAP30BP_uc002jpf.2_Missense_Mutation_p.K276E	p.K292E	NM_013260	NP_037392	Q9UHR5	S30BP_HUMAN	all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		11	928	+	all_cancers(13;6.42e-08)		292			Thr-rich.			Missense_Mutation	SNP	ENST00000584667.1	37	c.874A>G	CCDS11726.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.757593	0.89843	.	.	ENSG00000161526	ENST00000355423;ENST00000293208	.	.	.	5.58	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.76513	0.3998	M	0.70595	2.14	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.77757	-0.2468	9	0.72032	D	0.01	-12.411	11.7888	0.52057	0.8682:0.0:0.0:0.1318	.	276;292	Q9UHR5-2;Q9UHR5	.;S30BP_HUMAN	E	292;276	.	ENSP00000293208:K276E	K	+	1	0	SAP30BP	71214143	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.962000	0.93254	0.907000	0.36646	0.528000	0.53228	AAG		PASS	0.612	SAP30BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448227.1	NM_013260		61	150	61	150	---	---	---	---
RHBDF2	79651	broad.mit.edu	37	17	74476009	74476009	+	Silent	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr17:74476009C>T	ENST00000313080.4	-	4	438	c.165G>A	c.(163-165)agG>agA	p.R55R	RHBDF2_ENST00000591885.1_Intron|RHBDF2_ENST00000592378.1_Intron|RHBDF2_ENST00000389760.4_Intron	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	55					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.R55R(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						TCTTTAGCCTCCTATTCTGAA	0.483																																						uc002jrq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(163-165)AGG>AGA		rhomboid, veinlet-like 6 isoform 1							26.0	25.0	25.0					17																	74476009		2202	4299	6501	SO:0001819	synonymous_variant	79651				negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr17:74476009C>T	BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"""rhomboid, veinlet-like 6 (Drosophila)"", ""tylosis with oesophageal cancer"""	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.165G>A	17.37:g.74476009C>T						RHBDF2_uc002jrp.1_Intron|RHBDF2_uc002jrr.1_Intron|RHBDF2_uc010wtf.1_Intron|RHBDF2_uc002jrs.1_Intron	p.R55R	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN			4	458	-			55			Cytoplasmic (Potential).		A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Silent	SNP	ENST00000313080.4	37	c.165G>A	CCDS32743.1																																																																																				PASS	0.483	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450134.1	NM_024599		5	11	5	11	---	---	---	---
GPS1	2873	broad.mit.edu	37	17	80012801	80012801	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr17:80012801C>A	ENST00000306823.6	+	5	672	c.649C>A	c.(649-651)Cat>Aat	p.H217N	GPS1_ENST00000392358.2_Missense_Mutation_p.H253N|GPS1_ENST00000320548.4_Missense_Mutation_p.H197N|GPS1_ENST00000355130.2_Missense_Mutation_p.H253N|GPS1_ENST00000578552.1_Missense_Mutation_p.H213N			Q13098	CSN1_HUMAN	G protein pathway suppressor 1	217					cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)	p.H253N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GAATTGGTCTCATGTGCTCAG	0.662																																						uc002kdl.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(649-651)CAT>AAT		G protein pathway suppressor 1 isoform 2							84.0	81.0	82.0					17																	80012801		2203	4300	6503	SO:0001583	missense	2873				cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding	g.chr17:80012801C>A		CCDS11800.1, CCDS32774.1	17q25.3	2013-03-14				ENSG00000169727			4549	protein-coding gene	gene with protein product	"""COP9 signalosome subunit 1"""	601934				9535219	Standard	NM_212492		Approved	COPS1, CSN1	uc002kdl.1	Q13098		ENST00000306823.6:c.649C>A	17.37:g.80012801C>A	ENSP00000302873:p.His217Asn					GPS1_uc002kdk.1_Missense_Mutation_p.H253N|GPS1_uc010dij.1_Missense_Mutation_p.H253N|GPS1_uc002kdm.1_Missense_Mutation_p.H197N|GPS1_uc002kdn.1_Missense_Mutation_p.H213N|GPS1_uc002kdo.1_Missense_Mutation_p.H217N|GPS1_uc010wvh.1_Missense_Mutation_p.H209N	p.H217N	NM_004127	NP_004118	Q13098	CSN1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		5	694	+	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		217					Q8NA10|Q9BWL1	Missense_Mutation	SNP	ENST00000306823.6	37	c.649C>A	CCDS32774.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784515	0.49997	.	.	ENSG00000169727	ENST00000392358;ENST00000320548;ENST00000306823;ENST00000355130;ENST00000392357	T;T;T	0.75154	-0.74;-0.91;-0.74	4.65	4.65	0.58169	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.75243	0.3823	M	0.62209	1.925	0.80722	D	1	B;B;P;B;B;B	0.41131	0.171;0.038;0.739;0.067;0.023;0.031	B;B;B;B;B;B	0.42653	0.394;0.087;0.343;0.187;0.138;0.052	T	0.77064	-0.2726	10	0.41790	T	0.15	-30.4614	17.5075	0.87750	0.0:1.0:0.0:0.0	.	209;253;202;213;217;253	B4DND6;A8K070;Q13098-6;Q13098-5;Q13098;Q13098-7	.;.;.;.;CSN1_HUMAN;.	N	253;203;217;253;138	ENSP00000376167:H253N;ENSP00000302873:H217N;ENSP00000347251:H253N	ENSP00000302873:H217N	H	+	1	0	GPS1	77606090	1.000000	0.71417	1.000000	0.80357	0.370000	0.29829	7.237000	0.78164	2.150000	0.67090	0.491000	0.48974	CAT		PASS	0.662	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442176.1	NM_212492		6	87	6	87	---	---	---	---
TBCD	6904	broad.mit.edu	37	17	80724167	80724167	+	Missense_Mutation	SNP	C	C	A	rs563090446		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr17:80724167C>A	ENST00000355528.4	+	4	488	c.358C>A	c.(358-360)Cgt>Agt	p.R120S	TBCD_ENST00000539345.2_Missense_Mutation_p.R120S|TBCD_ENST00000397466.2_5'UTR	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	120					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)	p.R120S(1)				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			AACATTTCTTCGTTTATTTCC	0.388																																						uc002kfz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(358-360)CGT>AGT		beta-tubulin cofactor D							158.0	146.0	150.0					17																	80724167		1894	4104	5998	SO:0001583	missense	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80724167C>A	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.358C>A	17.37:g.80724167C>A	ENSP00000347719:p.Arg120Ser					TBCD_uc002kfx.1_Missense_Mutation_p.R103S|TBCD_uc002kfy.1_Missense_Mutation_p.R120S	p.R120S	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		4	488	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	120					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	37	c.358C>A	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.451379	0.26074	.	.	ENSG00000141556	ENST00000355528;ENST00000269368;ENST00000536182	T	0.66460	-0.21	4.78	2.63	0.31362	Armadillo-type fold (1);	.	.	.	.	T	0.60483	0.2272	L	0.59436	1.845	0.80722	D	1	B;B;B	0.28378	0.209;0.164;0.095	B;B;B	0.28784	0.043;0.094;0.061	T	0.54563	-0.8275	8	.	.	.	.	12.4598	0.55725	0.1304:0.7438:0.1258:0.0	.	120;120;120	Q9BTW9;Q9BTW9-4;F5H8C7	TBCD_HUMAN;.;.	S	120;103;120	ENSP00000347719:R120S	.	R	+	1	0	TBCD	78317456	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	3.947000	0.56652	0.550000	0.28991	-1.357000	0.01221	CGT		PASS	0.388	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		7	23	7	23	---	---	---	---
EPG5	57724	broad.mit.edu	37	18	43456279	43456279	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr18:43456279C>A	ENST00000282041.5	-	35	6005	c.5971G>T	c.(5971-5973)Gag>Tag	p.E1991*	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1991					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.E1991*(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GTATCACTCTCTAGCCAGGGG	0.458																																						uc002lbm.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(5971-5973)GAG>TAG		hypothetical protein LOC57724							90.0	86.0	87.0					18																	43456279		1992	4172	6164	SO:0001587	stop_gained	57724				autophagy			g.chr18:43456279C>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.5971G>T	18.37:g.43456279C>A	ENSP00000282041:p.Glu1991*					KIAA1632_uc010xcq.1_Nonsense_Mutation_p.E545*|KIAA1632_uc010xcr.1_Intron|KIAA1632_uc010xcs.1_Intron|KIAA1632_uc002lbn.2_Nonsense_Mutation_p.E866*	p.E1991*	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN			35	6071	-			1991					A2BDF3|Q9H8C8	Nonsense_Mutation	SNP	ENST00000282041.5	37	c.5971G>T	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	47	13.773033	0.99762	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-15.3819	18.4858	0.90828	0.0:1.0:0.0:0.0	.	.	.	.	X	1991;866	.	ENSP00000282041:E1991X	E	-	1	0	EPG5	41710277	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	6.131000	0.71670	2.808000	0.96608	0.655000	0.94253	GAG		PASS	0.458	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		48	60	48	60	---	---	---	---
CTIF	9811	broad.mit.edu	37	18	46284376	46284376	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr18:46284376A>G	ENST00000256413.3	+	8	966	c.671A>G	c.(670-672)cAg>cGg	p.Q224R	CTIF_ENST00000382998.4_Missense_Mutation_p.Q224R	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	224	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)	p.Q224R(1)|p.Q176R(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						AGGGACCACCAGAAATCCTAC	0.632																																						uc002ldc.2																			2	Substitution - Missense(2)		lung(2)		0						c.(670-672)CAG>CGG		hypothetical protein LOC9811 isoform 1							71.0	87.0	82.0					18																	46284376		2203	4300	6503	SO:0001583	missense	9811				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	g.chr18:46284376A>G	AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.671A>G	18.37:g.46284376A>G	ENSP00000256413:p.Gln224Arg					KIAA0427_uc002ldd.2_Missense_Mutation_p.Q224R|KIAA0427_uc002lde.3_5'Flank	p.Q224R	NM_014772	NP_055587	O43310	CTIF_HUMAN			8	956	+			224			Interaction with NCBP1/CBP80.		B3KTR8|Q8IVD5	Missense_Mutation	SNP	ENST00000256413.3	37	c.671A>G	CCDS11935.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.627350	0.66901	.	.	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.49720	0.77;0.77	5.46	5.46	0.80206	.	0.163978	0.42821	D	0.000659	T	0.44222	0.1283	L	0.50333	1.59	0.35833	D	0.825495	P;P	0.43938	0.822;0.543	B;B	0.40741	0.339;0.138	T	0.56129	-0.8030	10	0.35671	T	0.21	-11.434	14.1027	0.65068	1.0:0.0:0.0:0.0	.	224;224	O43310-2;O43310	.;CTIF_HUMAN	R	224;224;176	ENSP00000256413:Q224R;ENSP00000372459:Q224R	ENSP00000256413:Q224R	Q	+	2	0	CTIF	44538374	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.939000	0.92951	2.074000	0.62210	0.459000	0.35465	CAG		PASS	0.632	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		102	110	102	110	---	---	---	---
KIAA1468	57614	broad.mit.edu	37	18	59899640	59899640	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr18:59899640G>C	ENST00000398130.2	+	10	1832	c.1600G>C	c.(1600-1602)Gtg>Ctg	p.V534L	KIAA1468_ENST00000256858.6_Missense_Mutation_p.V534L|KIAA1468_ENST00000592479.1_3'UTR	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	534								p.V534L(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TGTTCCCAATGTGCTATTGGC	0.388																																						uc002lil.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6						c.(1600-1602)GTG>CTG		hypothetical protein LOC57614							112.0	101.0	105.0					18																	59899640		2203	4300	6503	SO:0001583	missense	57614						binding	g.chr18:59899640G>C	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.1600G>C	18.37:g.59899640G>C	ENSP00000381198:p.Val534Leu					KIAA1468_uc002lik.1_Missense_Mutation_p.V534L|KIAA1468_uc010xel.1_Missense_Mutation_p.V534L|KIAA1468_uc002lim.2_Missense_Mutation_p.V178L	p.V534L	NM_020854	NP_065905	Q9P260	K1468_HUMAN			10	1815	+		Colorectal(73;0.186)	534						Missense_Mutation	SNP	ENST00000398130.2	37	c.1600G>C	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	G	32	5.117630	0.94385	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	T;T	0.46451	0.87;0.87	5.57	5.57	0.84162	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.64136	0.2571	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;0.991;0.983	D;P;P	0.87578	0.998;0.85;0.773	T	0.59910	-0.7365	9	.	.	.	-14.7437	19.9024	0.96993	0.0:0.0:1.0:0.0	.	534;534;178	Q9P260-2;Q9P260;B2RD46	.;K1468_HUMAN;.	L	534	ENSP00000381198:V534L;ENSP00000256858:V534L	.	V	+	1	0	KIAA1468	58050620	1.000000	0.71417	0.997000	0.53966	0.945000	0.59286	9.226000	0.95229	2.775000	0.95449	0.650000	0.86243	GTG		PASS	0.388	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		42	113	42	113	---	---	---	---
KCNG2	26251	broad.mit.edu	37	18	77659303	77659303	+	Silent	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr18:77659303C>G	ENST00000316249.3	+	2	888	c.888C>G	c.(886-888)ctC>ctG	p.L296L	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	296					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.L296L(1)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		TGCGCGTGCTCTACGTGATGC	0.741																																						uc010xfl.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(886-888)CTC>CTG		potassium voltage-gated channel, subfamily G,							9.0	11.0	11.0					18																	77659303		2024	3951	5975	SO:0001819	synonymous_variant	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77659303C>G	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.888C>G	18.37:g.77659303C>G							p.L296L	NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	2	888	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	296			Helical; Voltage-sensor; Name=Segment S4; (Potential).			Silent	SNP	ENST00000316249.3	37	c.888C>G	CCDS12019.1																																																																																				PASS	0.741	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		5	12	5	12	---	---	---	---
AP3D1	8943	broad.mit.edu	37	19	2114168	2114168	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr19:2114168C>G	ENST00000345016.5	-	22	2788	c.2557G>C	c.(2557-2559)Gag>Cag	p.E853Q	AP3D1_ENST00000356926.4_Missense_Mutation_p.E762Q|AP3D1_ENST00000355272.6_Missense_Mutation_p.E853Q|AP3D1_ENST00000350812.6_Missense_Mutation_p.E684Q	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	853	Lys-rich.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.E853Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ctctctttctctttGTGTTTT	0.488																																						uc002luz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2557-2559)GAG>CAG		adaptor-related protein complex 3, delta 1							84.0	84.0	84.0					19																	2114168		1960	4136	6096	SO:0001583	missense	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2114168C>G	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.2557G>C	19.37:g.2114168C>G	ENSP00000344055:p.Glu853Gln					AP3D1_uc010dsv.2_5'Flank|AP3D1_uc002luy.2_Missense_Mutation_p.E762Q|AP3D1_uc002lva.2_Missense_Mutation_p.E853Q	p.E853Q	NM_003938	NP_003929	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	22	2780	-		Hepatocellular(1079;0.137)	853			Lys-rich.|Potential.		O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	c.2557G>C	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	c	9.891	1.204159	0.22205	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000350812	T;T;T;T	0.63417	2.16;-0.04;1.59;-0.04	4.88	3.85	0.44370	.	0.647106	0.12024	N	0.506650	T	0.59004	0.2162	L	0.51422	1.61	0.35633	D	0.810334	P;P;P	0.45827	0.557;0.611;0.867	B;B;P	0.44447	0.178;0.202;0.45	T	0.59005	-0.7535	10	0.13108	T	0.6	-25.1058	14.1188	0.65172	0.0:0.8479:0.1521:0.0	.	853;853;762	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	Q	762;853;853;684	ENSP00000349398:E762Q;ENSP00000344055:E853Q;ENSP00000347416:E853Q;ENSP00000342321:E684Q	ENSP00000344055:E853Q	E	-	1	0	AP3D1	2065168	1.000000	0.71417	0.566000	0.28421	0.030000	0.12068	3.760000	0.55235	1.068000	0.40764	-0.394000	0.06481	GAG		PASS	0.488	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			6	15	6	15	---	---	---	---
ZFR2	23217	broad.mit.edu	37	19	3831804	3831804	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr19:3831804G>T	ENST00000262961.4	-	4	462	c.452C>A	c.(451-453)cCc>cAc	p.P151H	ZFR2_ENST00000591965.1_5'UTR	NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	151							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.P151H(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CTCCACTATGGGCGCCTGCTG	0.677																																						uc002lyw.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(451-453)CCC>CAC		zinc finger RNA binding protein 2 isoform 1							22.0	26.0	25.0					19																	3831804		2122	4228	6350	SO:0001583	missense	23217					intracellular	nucleic acid binding|zinc ion binding	g.chr19:3831804G>T	AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"""KIAA1086"""	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.452C>A	19.37:g.3831804G>T	ENSP00000262961:p.Pro151His					ZFR2_uc010xhx.1_RNA	p.P151H	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)	4	464	-			151						Missense_Mutation	SNP	ENST00000262961.4	37	c.452C>A	CCDS45921.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926329	0.34002	.	.	ENSG00000105278	ENST00000262961;ENST00000438164	T;T	0.14022	3.29;2.54	2.71	1.65	0.23941	.	0.529823	0.17431	U	0.174474	T	0.12817	0.0311	L	0.38175	1.15	0.22693	N	0.998842	D	0.60160	0.987	P	0.48189	0.57	T	0.12293	-1.0553	10	0.72032	D	0.01	-4.4085	5.3367	0.15961	0.1671:0.0:0.8329:0.0	.	151	Q9UPR6	ZFR2_HUMAN	H	151	ENSP00000262961:P151H;ENSP00000388974:P151H	ENSP00000262961:P151H	P	-	2	0	ZFR2	3782804	0.444000	0.25649	0.001000	0.08648	0.001000	0.01503	2.910000	0.48766	0.364000	0.24374	-0.258000	0.10820	CCC		PASS	0.677	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	NM_015174		5	24	5	24	---	---	---	---
SAFB	6294	broad.mit.edu	37	19	5664121	5664121	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr19:5664121G>A	ENST00000292123.5	+	16	2349	c.2242G>A	c.(2242-2244)Gac>Aac	p.D748N	SAFB_ENST00000588852.1_Missense_Mutation_p.D748N|SAFB_ENST00000433404.1_Missense_Mutation_p.D578N|SAFB_ENST00000454510.1_Missense_Mutation_p.D679N|SAFB_ENST00000592224.1_Missense_Mutation_p.D747N|SAFB_ENST00000538656.1_Missense_Mutation_p.D590N	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	748	Arg-rich.|Interaction with POLR2A.|Interaction with SAFB2.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D748N(1)		breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		CCGCTTCCACGACTTTGACCA	0.627																																					Colon(88;338 1345 6184 8214 20897)	uc002mcf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|liver(1)|skin(1)	3						c.(2242-2244)GAC>AAC		scaffold attachment factor B							40.0	38.0	39.0					19																	5664121		2203	4300	6503	SO:0001583	missense	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5664121G>A	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.2242G>A	19.37:g.5664121G>A	ENSP00000292123:p.Asp748Asn					SAFB_uc002mcg.2_Missense_Mutation_p.D748N|SAFB_uc002mce.3_Missense_Mutation_p.D747N|SAFB_uc010xir.1_Missense_Mutation_p.D747N|SAFB_uc010xis.1_Missense_Mutation_p.D679N|SAFB_uc010xit.1_Missense_Mutation_p.D590N|SAFB_uc010xiu.1_Missense_Mutation_p.D547N	p.D748N	NM_002967	NP_002958	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	16	2295	+			748			Interaction with SAFB2.|Interaction with POLR2A.|Arg-rich.		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	ENST00000292123.5	37	c.2242G>A	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376402	0.82682	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.16897	2.31;2.45;2.44;2.44	4.99	4.99	0.66335	.	0.000000	0.53938	D	0.000042	T	0.45458	0.1343	M	0.79693	2.465	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	0.87578	0.996;0.996;0.998;0.996;0.996;0.996;0.996	T	0.45323	-0.9269	10	0.54805	T	0.06	-20.3302	16.8294	0.85940	0.0:0.0:1.0:0.0	.	547;590;679;747;748;748;747	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	N	679;643;578;748;590	ENSP00000415895:D679N;ENSP00000404545:D578N;ENSP00000292123:D748N;ENSP00000438880:D590N	ENSP00000292123:D748N	D	+	1	0	SAFB	5615121	1.000000	0.71417	0.987000	0.45799	0.952000	0.60782	5.610000	0.67668	2.480000	0.83734	0.563000	0.77884	GAC		PASS	0.627	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2			5	80	5	80	---	---	---	---
EMR1	2015	broad.mit.edu	37	19	6904052	6904052	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr19:6904052G>C	ENST00000312053.4	+	8	845	c.808G>C	c.(808-810)Gat>Cat	p.D270H	EMR1_ENST00000250572.8_Missense_Mutation_p.D270H|EMR1_ENST00000381407.5_Missense_Mutation_p.D129H|EMR1_ENST00000381404.4_Missense_Mutation_p.D218H|EMR1_ENST00000450315.3_Intron	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	270	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.D270H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGCAGATATTGATGAGTGCCG	0.463																																						uc002mfw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(808-810)GAT>CAT		egf-like module containing, mucin-like, hormone							94.0	92.0	93.0					19																	6904052		2203	4300	6503	SO:0001583	missense	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6904052G>C	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.808G>C	19.37:g.6904052G>C	ENSP00000311545:p.Asp270His					EMR1_uc010dvc.2_Missense_Mutation_p.D270H|EMR1_uc010dvb.2_Missense_Mutation_p.D218H|EMR1_uc010xji.1_Missense_Mutation_p.D129H|EMR1_uc010xjj.1_Intron	p.D270H	NM_001974	NP_001965	Q14246	EMR1_HUMAN			8	846	+	all_hematologic(4;0.166)		270			Extracellular (Potential).|EGF-like 6; calcium-binding (Potential).		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	c.808G>C	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.834623	0.50951	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407	D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76	4.06	3.03	0.35002	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.97801	0.9278	H	0.94964	3.605	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.997;0.998	D	0.97235	0.9887	9	0.87932	D	0	.	6.8041	0.23768	0.1261:0.0:0.8739:0.0	.	129;270;218;270	B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;EMR1_HUMAN	H	270;270;218;270;129	ENSP00000311545:D270H;ENSP00000370811:D218H;ENSP00000250572:D270H;ENSP00000370814:D129H	ENSP00000250572:D270H	D	+	1	0	EMR1	6855052	1.000000	0.71417	0.080000	0.20451	0.128000	0.20619	1.495000	0.35627	2.212000	0.71576	0.650000	0.86243	GAT		PASS	0.463	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			43	74	43	74	---	---	---	---
PNPLA6	10908	broad.mit.edu	37	19	7620527	7620527	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr19:7620527G>C	ENST00000221249.6	+	27	3288	c.2857G>C	c.(2857-2859)Gag>Cag	p.E953Q	PNPLA6_ENST00000545201.2_Missense_Mutation_p.E926Q|PNPLA6_ENST00000450331.3_Missense_Mutation_p.E953Q|PNPLA6_ENST00000414982.3_Missense_Mutation_p.E1001Q|PNPLA6_ENST00000600737.1_Missense_Mutation_p.E991Q	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	992					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)	p.E953Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						AAAGGCATTAGAGGAGGCGGG	0.662																																						uc010xjq.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(3001-3003)GAG>CAG		neuropathy target esterase isoform b							30.0	30.0	30.0					19																	7620527		2203	4300	6503	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7620527G>C	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.2857G>C	19.37:g.7620527G>C	ENSP00000221249:p.Glu953Gln					PNPLA6_uc002mgq.1_Missense_Mutation_p.E953Q|PNPLA6_uc010xjp.1_Missense_Mutation_p.E926Q|PNPLA6_uc002mgr.1_Missense_Mutation_p.E953Q|PNPLA6_uc002mgs.2_Missense_Mutation_p.E991Q|PNPLA6_uc002mgt.1_RNA	p.E1001Q	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN			26	3196	+			992			Patatin.|Cytoplasmic (Potential).		A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.3001G>C	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	g	9.943	1.218109	0.22373	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	4.04	4.04	0.47022	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);Lysophospholipase patatin, conserved site (1);	0.173147	0.50627	D	0.000113	T	0.69106	0.3074	M	0.62266	1.93	0.38515	D	0.948581	B;B;B;B	0.33612	0.034;0.027;0.419;0.006	B;B;B;B	0.32211	0.044;0.026;0.142;0.026	T	0.65689	-0.6107	10	0.18710	T	0.47	.	7.8617	0.29514	0.1117:0.0:0.8883:0.0	.	992;926;991;953	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	Q	953;926;1001;953	ENSP00000221249:E953Q;ENSP00000443323:E926Q;ENSP00000407509:E1001Q;ENSP00000394348:E953Q	ENSP00000221249:E953Q	E	+	1	0	PNPLA6	7526527	1.000000	0.71417	0.993000	0.49108	0.906000	0.53458	2.613000	0.46351	2.280000	0.76307	0.555000	0.69702	GAG		PASS	0.662	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		7	48	7	48	---	---	---	---
ZNF560	147741	broad.mit.edu	37	19	9583891	9583891	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr19:9583891C>G	ENST00000301480.4	-	5	415	c.202G>C	c.(202-204)Gaa>Caa	p.E68Q		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	68	KRAB 1. {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.E68Q(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						CTCAACTCTTCTTCTTCCAAC	0.428																																						uc002mlp.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						c.(202-204)GAA>CAA		zinc finger protein 560							195.0	196.0	196.0					19																	9583891		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9583891C>G	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.202G>C	19.37:g.9583891C>G	ENSP00000301480:p.Glu68Gln					ZNF560_uc010dwr.1_5'UTR	p.E68Q	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN			5	412	-			68			KRAB 1.		Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.202G>C	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	C	8.446	0.852071	0.17034	.	.	ENSG00000198028	ENST00000301480	T	0.00873	5.59	3.05	-0.528	0.11905	Krueppel-associated box (3);	.	.	.	.	T	0.00875	0.0029	L	0.38838	1.175	0.09310	N	1	B	0.21225	0.053	B	0.15052	0.012	T	0.45145	-0.9281	9	0.31617	T	0.26	.	4.9624	0.14072	0.0:0.4384:0.431:0.1306	.	68	Q96MR9	ZN560_HUMAN	Q	68	ENSP00000301480:E68Q	ENSP00000301480:E68Q	E	-	1	0	ZNF560	9444891	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.084000	0.11268	-0.011000	0.14247	0.655000	0.94253	GAA		PASS	0.428	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		104	200	104	200	---	---	---	---
PLPPR2	64748	broad.mit.edu	37	19	11474413	11474413	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr19:11474413C>T	ENST00000251473.5	+	8	1241	c.865C>T	c.(865-867)Cag>Tag	p.Q289*	DKFZP761J1410_ENST00000591608.1_Nonsense_Mutation_p.Q264*	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2												p.Q289*(1)									GCATAACTTTCAGAGCCGGCC	0.572																																						uc002mre.1																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)	1						c.(865-867)CAG>TAG		lipid phosphate phosphatase-related protein type							43.0	44.0	44.0					19																	11474413		2203	4300	6503	SO:0001587	stop_gained	64748					integral to membrane	phosphatidate phosphatase activity	g.chr19:11474413C>T																												ENST00000251473.5:c.865C>T	19.37:g.11474413C>T	ENSP00000251473:p.Gln289*					LPPR2_uc002mrf.1_Nonsense_Mutation_p.Q264*|LPPR2_uc010dxy.1_Nonsense_Mutation_p.Q96*	p.Q289*	NM_022737	NP_073574	Q96GM1	LPPR2_HUMAN			8	1202	+			289						Nonsense_Mutation	SNP	ENST00000251473.5	37	c.865C>T	CCDS12258.1	.	.	.	.	.	.	.	.	.	.	C	38	6.971674	0.97971	.	.	ENSG00000105520	ENST00000251473	.	.	.	5.95	4.91	0.64330	.	0.246386	0.41823	D	0.000818	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.1858	11.2516	0.49028	0.1427:0.7199:0.1375:0.0	.	.	.	.	X	289	.	ENSP00000251473:Q289X	Q	+	1	0	AC024575.1	11335413	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	2.036000	0.41165	1.495000	0.48549	0.655000	0.94253	CAG		PASS	0.572	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1			19	65	19	65	---	---	---	---
ZNF709	163051	broad.mit.edu	37	19	12575430	12575430	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr19:12575430G>C	ENST00000397732.3	-	4	1477	c.1306C>G	c.(1306-1308)Cga>Gga	p.R436G	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.R436G	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	436					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.R436G(1)|p.R436*(1)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCATGTATTCGAACAGAACTG	0.408																																					GBM(33;565 669 12371 29134 51667)	uc002mtv.3																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		large_intestine(1)|lung(1)		0						c.(1306-1308)CGA>GGA		zinc finger protein 709 isoform a							110.0	116.0	114.0					19																	12575430		2203	4299	6502	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575430G>C	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1306C>G	19.37:g.12575430G>C	ENSP00000380840:p.Arg436Gly					ZNF709_uc002mtw.3_Missense_Mutation_p.R404G|ZNF709_uc002mtx.3_Missense_Mutation_p.R436G	p.R436G	NM_152601	NP_689814	Q8N972	ZN709_HUMAN			4	1467	-			436			C2H2-type 12.		A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1306C>G	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956251	0.34565	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.07908	3.15;3.15	3.05	2.01	0.26516	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.308092	0.17848	N	0.159967	T	0.14657	0.0354	L	0.50919	1.6	0.09310	N	1	D	0.76494	0.999	D	0.69479	0.964	T	0.14144	-1.0483	10	0.27082	T	0.32	.	2.6218	0.04918	0.2518:0.0:0.5154:0.2327	.	436	Q8N972	ZN709_HUMAN	G	436	ENSP00000380840:R436G;ENSP00000404127:R436G	ENSP00000404127:R436G	R	-	1	2	ZNF709;CTD-2192J16.17	12436430	0.000000	0.05858	0.010000	0.14722	0.983000	0.72400	-3.437000	0.00471	0.868000	0.35678	0.591000	0.81541	CGA		PASS	0.408	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		15	209	15	209	---	---	---	---
ZNF709	163051	broad.mit.edu	37	19	12577613	12577613	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr19:12577613C>T	ENST00000397732.3	-	2	226	c.55G>A	c.(55-57)Gct>Act	p.A19T	CTD-3105H18.18_ENST00000598753.1_Missense_Mutation_p.A19T|ZNF709_ENST00000428311.1_Missense_Mutation_p.A19T	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	19	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.A19T(1)		large_intestine(3)|upper_aerodigestive_tract(3)	6						CCCAGCAAAGCCCACTCCTCC	0.473																																					GBM(33;565 669 12371 29134 51667)	uc002mtv.3																			1	Substitution - Missense(1)		lung(1)		0						c.(55-57)GCT>ACT		zinc finger protein 709 isoform a							97.0	98.0	98.0					19																	12577613		2203	4300	6503	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12577613C>T	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.55G>A	19.37:g.12577613C>T	ENSP00000380840:p.Ala19Thr					ZNF709_uc002mtw.3_5'UTR|ZNF709_uc002mtx.3_Missense_Mutation_p.A19T	p.A19T	NM_152601	NP_689814	Q8N972	ZN709_HUMAN			2	216	-			19			KRAB.		A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.55G>A	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974830	0.74360	.	.	ENSG00000242852;ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000455490;ENST00000428311	T;T;T	0.01821	4.62;4.62;4.62	3.19	3.19	0.36642	Krueppel-associated box (4);	0.486693	0.15379	N	0.265420	T	0.06826	0.0174	M	0.64404	1.975	0.33358	D	0.571904	D	0.89917	1.0	D	0.80764	0.994	T	0.32613	-0.9900	10	0.15499	T	0.54	.	12.283	0.54776	0.0:1.0:0.0:0.0	.	19	Q8N972	ZN709_HUMAN	T	19;48;19	ENSP00000380840:A19T;ENSP00000398085:A48T;ENSP00000404127:A19T	ENSP00000404127:A19T	A	-	1	0	ZNF709;CTD-2192J16.17	12438613	0.055000	0.20627	0.995000	0.50966	0.963000	0.63663	0.053000	0.14184	2.099000	0.63709	0.491000	0.48974	GCT		PASS	0.473	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		7	103	7	103	---	---	---	---
CCDC130	81576	broad.mit.edu	37	19	13875456	13875456	+	IGR	SNP	G	G	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr19:13875456G>T	ENST00000586600.1	+	0	1922				MRI1_ENST00000319545.8_Missense_Mutation_p.Q18H|MRI1_ENST00000040663.6_Missense_Mutation_p.Q18H			P13994	CC130_HUMAN	coiled-coil domain containing 130						response to virus (GO:0009615)			p.Q18H(4)		endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			TCCTAGACCAGCTGCTGCTGC	0.706																																						uc002mxe.2																			4	Substitution - Missense(4)		prostate(2)|lung(2)	ovary(1)	1						c.(52-54)CAG>CAT		translation initiation factor eIF-2B subunit							23.0	26.0	25.0					19																	13875456		2189	4284	6473	SO:0001628	intergenic_variant	84245				L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity	g.chr19:13875456G>T	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994			19.37:g.13875456G>T						MRI1_uc002mxf.2_Missense_Mutation_p.Q18H	p.Q18H	NM_001031727	NP_001026897	Q9BV20	MTNA_HUMAN			1	120	+			18					Q9BQ72	Missense_Mutation	SNP	ENST00000586600.1	37	c.54G>T	CCDS12296.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582330	0.65992	.	.	ENSG00000037757	ENST00000040663;ENST00000319545	T;T	0.37584	1.19;1.19	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.69637	0.3133	H	0.96633	3.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.77397	-0.2603	10	0.87932	D	0	-22.7382	9.3849	0.38336	0.0944:0.0:0.9056:0.0	.	18;18	Q9BV20-2;Q9BV20	.;MTNA_HUMAN	H	18	ENSP00000040663:Q18H;ENSP00000314871:Q18H	ENSP00000040663:Q18H	Q	+	3	2	MRI1	13736456	1.000000	0.71417	1.000000	0.80357	0.098000	0.18820	4.030000	0.57260	2.651000	0.90000	0.655000	0.94253	CAG		PASS	0.706	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2	NM_030818		5	41	5	41	---	---	---	---
BRD4	23476	broad.mit.edu	37	19	15349587	15349587	+	Silent	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr19:15349587C>A	ENST00000263377.2	-	19	4208	c.3987G>T	c.(3985-3987)cgG>cgT	p.R1329R	AC004257.3_ENST00000602793.1_lincRNA	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1329	C-terminal (CTD) region.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)	p.R1329R(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCTCCCGCTTCCGGGCCAACT	0.677			T	C15orf55	lethal midline carcinoma of young people																																	uc002nar.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	NUT|C15orf55		lethal midline carcinoma of young people		1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(3985-3987)CGG>CGT		bromodomain-containing protein 4 isoform long							11.0	13.0	12.0					19																	15349587		2199	4292	6491	SO:0001819	synonymous_variant	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15349587C>A	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.3987G>T	19.37:g.15349587C>A							p.R1329R	NM_058243	NP_490597	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		19	4209	-			1329					O60433|Q4G0X8|Q86YS8|Q96PD3	Silent	SNP	ENST00000263377.2	37	c.3987G>T	CCDS12328.1																																																																																				PASS	0.677	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		5	31	5	31	---	---	---	---
SUGP2	10147	broad.mit.edu	37	19	19120951	19120951	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr19:19120951C>G	ENST00000601879.1	-	5	2348	c.2051G>C	c.(2050-2052)cGt>cCt	p.R684P	SUGP2_ENST00000600377.1_Missense_Mutation_p.R698P|SUGP2_ENST00000456085.2_Missense_Mutation_p.R453P|SUGP2_ENST00000452918.2_Missense_Mutation_p.R684P|SUGP2_ENST00000337018.6_Missense_Mutation_p.R684P			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	684					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R684P(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCCTTGAGCACGGAGGAGCCC	0.667																																						uc002nkx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2050-2052)CGT>CCT		splicing factor, arginine/serine-rich 14							60.0	62.0	62.0					19																	19120951		2203	4300	6503	SO:0001583	missense	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19120951C>G	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.2051G>C	19.37:g.19120951C>G	ENSP00000472286:p.Arg684Pro					SFRS14_uc002nkz.1_Missense_Mutation_p.R698P|SFRS14_uc002nla.1_Missense_Mutation_p.R684P|SFRS14_uc002nlb.2_Missense_Mutation_p.R684P|SFRS14_uc010xqk.1_Missense_Mutation_p.R453P	p.R684P	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)		5	2197	-			684					C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	ENST00000601879.1	37	c.2051G>C	CCDS12392.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410679	0.42715	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918;ENST00000456085	T;T;T;T	0.14391	2.74;2.74;2.74;2.51	5.19	1.35	0.21983	.	0.391861	0.21398	N	0.075183	T	0.10294	0.0252	N	0.24115	0.695	0.09310	N	1	D;D;P	0.61697	0.99;0.99;0.854	P;P;B	0.50659	0.647;0.647;0.415	T	0.15122	-1.0448	10	0.62326	D	0.03	-13.4575	1.0346	0.01545	0.2709:0.3629:0.1928:0.1734	.	453;684;684	E7ETX7;A8K5G0;Q8IX01	.;.;SUGP2_HUMAN	P	684;684;684;453	ENSP00000337926:R684P;ENSP00000332373:R684P;ENSP00000389380:R684P;ENSP00000409603:R453P	ENSP00000332373:R684P	R	-	2	0	SUGP2	18981951	0.001000	0.12720	0.019000	0.16419	0.634000	0.38068	0.728000	0.26013	0.690000	0.31570	-0.137000	0.14449	CGT		PASS	0.667	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		49	90	49	90	---	---	---	---
ZNF100	163227	broad.mit.edu	37	19	21910548	21910548	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr19:21910548A>T	ENST00000358296.6	-	5	764	c.566T>A	c.(565-567)tTt>tAt	p.F189Y	ZNF100_ENST00000305570.6_Missense_Mutation_p.F125Y	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	189					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.F189Y(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TGAATTTGAAAATGTATGAAA	0.299																																						uc002nqi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(565-567)TTT>TAT		zinc finger protein 100							105.0	108.0	107.0					19																	21910548		2048	4214	6262	SO:0001583	missense	163227				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21910548A>T	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.566T>A	19.37:g.21910548A>T	ENSP00000351042:p.Phe189Tyr					ZNF100_uc002nqh.2_Missense_Mutation_p.F125Y	p.F189Y	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN			5	765	-			189			C2H2-type 1; degenerate.		Q7M4M0	Missense_Mutation	SNP	ENST00000358296.6	37	c.566T>A	CCDS42538.1	.	.	.	.	.	.	.	.	.	.	.	3.909	-0.020505	0.07634	.	.	ENSG00000197020	ENST00000358296	T	0.35789	1.29	0.993	-1.99	0.07457	Zinc finger, C2H2 (1);	.	.	.	.	T	0.29882	0.0747	M	0.65677	2.01	0.09310	N	1	B;B	0.17268	0.021;0.001	B;B	0.20577	0.03;0.009	T	0.31779	-0.9931	9	0.30078	T	0.28	.	3.5886	0.07979	0.2528:0.5042:0.2429:0.0	.	189;243	Q8IYN0;Q4G131	ZN100_HUMAN;.	Y	189	ENSP00000351042:F189Y	ENSP00000351042:F189Y	F	-	2	0	ZNF100	21702388	0.004000	0.15560	0.089000	0.20774	0.401000	0.30781	-0.774000	0.04684	-0.782000	0.04541	0.147000	0.16070	TTT		PASS	0.299	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		23	168	23	168	---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22156018	22156018	+	Silent	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr19:22156018C>T	ENST00000397126.4	-	4	1966	c.1818G>A	c.(1816-1818)gaG>gaA	p.E606E	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	606					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.E506E(2)|p.E606E(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTAGGGTTTCTCACCAGTAT	0.363																																						uc002nqp.2																			3	Substitution - coding silent(3)		lung(3)	ovary(5)|skin(2)	7						c.(1516-1518)GAG>GAA		zinc finger protein 208							55.0	58.0	57.0					19																	22156018		2091	4240	6331	SO:0001819	synonymous_variant	7757							g.chr19:22156018C>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.1818G>A	19.37:g.22156018C>T						ZNF208_uc002nqo.1_Intron	p.E506E	NM_007153	NP_009084					5	1667	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.1518G>A	CCDS54240.1																																																																																				PASS	0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		21	79	21	79	---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22157258	22157258	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr19:22157258C>G	ENST00000397126.4	-	4	726	c.578G>C	c.(577-579)aGa>aCa	p.R193T	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	193					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.R193T(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)				AGTATAAATTCTTTTATGTTG	0.353																																						uc002nqp.2																			3	Substitution - Missense(3)		lung(3)	ovary(5)|skin(2)	7						c.(577-579)AGA>ACA		zinc finger protein 208							61.0	62.0	62.0					19																	22157258		2001	4203	6204	SO:0001583	missense	7757							g.chr19:22157258C>G	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.578G>C	19.37:g.22157258C>G	ENSP00000380315:p.Arg193Thr					ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	p.R193T	NM_007153	NP_009084					4	727	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.578G>C	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	8.570	0.879824	0.17467	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.18657	2.2	2.21	-4.43	0.03568	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08223	0.0205	.	.	.	0.09310	N	1	P	0.36789	0.57	B	0.20767	0.031	T	0.15665	-1.0429	8	0.38643	T	0.18	.	4.0675	0.09868	0.1695:0.478:0.0:0.3524	.	193	O43345	ZN208_HUMAN	T	193	ENSP00000380315:R193T	ENSP00000380315:R193T	R	-	2	0	ZNF208	21949098	0.000000	0.05858	0.000000	0.03702	0.186000	0.23388	-0.722000	0.04958	-1.192000	0.02691	0.298000	0.19748	AGA		PASS	0.353	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		39	61	39	61	---	---	---	---
ZNF676	163223	broad.mit.edu	37	19	22375890	22375890	+	Missense_Mutation	SNP	G	G	T	rs201235589		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr19:22375890G>T	ENST00000397121.2	-	2	375	c.58C>A	c.(58-60)Ctg>Atg	p.L20M		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	20	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.L20M(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AAAATGATCAGGTCTGGCTTA	0.403																																						uc002nqs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(58-60)CTG>ATG		zinc finger protein 676							87.0	106.0	100.0					19																	22375890		1510	2709	4219	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22375890G>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.58C>A	19.37:g.22375890G>T	ENSP00000380310:p.Leu20Met						p.L20M	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			2	376	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	20			KRAB.		A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.58C>A	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	13.72	2.320880	0.41096	.	.	ENSG00000196109	ENST00000397121	T	0.00958	5.5	0.784	-1.57	0.08506	Krueppel-associated box (3);	.	.	.	.	T	0.02688	0.0081	M	0.75615	2.305	0.09310	N	1	D	0.58970	0.984	P	0.59595	0.86	T	0.40251	-0.9573	9	0.52906	T	0.07	.	3.7048	0.08397	0.0:0.4892:0.5108:0.0	.	20	Q8N7Q3	ZN676_HUMAN	M	20	ENSP00000380310:L20M	ENSP00000380310:L20M	L	-	1	2	ZNF676	22167730	0.007000	0.16637	0.774000	0.31636	0.776000	0.43924	-0.466000	0.06672	0.181000	0.19994	0.184000	0.17185	CTG		PASS	0.403	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		31	58	31	58	---	---	---	---
KIAA0355	9710	broad.mit.edu	37	19	34833290	34833290	+	Silent	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr19:34833290C>A	ENST00000299505.6	+	10	3324	c.2451C>A	c.(2449-2451)acC>acA	p.T817T		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	817								p.T817T(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GAAATAACACCTGGCCCAACC	0.517																																						uc002nvd.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2449-2451)ACC>ACA		hypothetical protein LOC9710							159.0	167.0	164.0					19																	34833290		2203	4300	6503	SO:0001819	synonymous_variant	9710							g.chr19:34833290C>A		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.2451C>A	19.37:g.34833290C>A							p.T817T	NM_014686	NP_055501	O15063	K0355_HUMAN			10	3310	+	Esophageal squamous(110;0.162)		817					Q2M3W4	Silent	SNP	ENST00000299505.6	37	c.2451C>A	CCDS12436.1																																																																																				PASS	0.517	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		62	122	62	122	---	---	---	---
ZNF585B	92285	broad.mit.edu	37	19	37677991	37677991	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr19:37677991T>G	ENST00000532828.2	-	5	699	c.448A>C	c.(448-450)Aaa>Caa	p.K150Q	ZNF585B_ENST00000312908.5_Intron|ZNF585B_ENST00000527838.1_Intron|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.K95Q	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K150Q(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTAGGAACTTTCAGATGTACC	0.388																																					Melanoma(93;882 1454 18863 28917 48427)	uc002ofq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(448-450)AAA>CAA		zinc finger protein 585B							91.0	92.0	92.0					19																	37677991		2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37677991T>G	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.448A>C	19.37:g.37677991T>G	ENSP00000433773:p.Lys150Gln					ZNF585B_uc002ofr.1_Intron	p.K150Q	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	702	-			150					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.448A>C	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	T	11.18	1.562012	0.27915	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.29397	1.57;1.57	2.93	2.93	0.34026	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.203097	0.24291	N	0.039819	T	0.27419	0.0673	L	0.50847	1.595	0.80722	D	1	P	0.41748	0.761	B	0.39617	0.305	T	0.08638	-1.0712	10	0.52906	T	0.07	.	10.3499	0.43929	0.0:0.0:0.0:1.0	.	150	Q52M93	Z585B_HUMAN	Q	95;150	ENSP00000436774:K95Q;ENSP00000433773:K150Q	ENSP00000436774:K95Q	K	-	1	0	ZNF585B	42369831	0.000000	0.05858	0.069000	0.20011	0.039000	0.13416	0.411000	0.21115	1.325000	0.45301	0.374000	0.22700	AAA		PASS	0.388	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		61	89	61	89	---	---	---	---
ZNF571	51276	broad.mit.edu	37	19	38055520	38055520	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr19:38055520G>A	ENST00000328550.2	-	4	1909	c.1810C>T	c.(1810-1812)Cat>Tat	p.H604Y	ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.H604Y|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.H604Y|ZNF571_ENST00000451802.2_Missense_Mutation_p.H604Y|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000590838.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	604					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.H604Y(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGCCTTGTATGTTGAGTAAGT	0.348																																						uc002ogt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1810-1812)CAT>TAT		zinc finger protein 571							50.0	48.0	49.0					19																	38055520		2203	4300	6503	SO:0001583	missense	51276				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38055520G>A	AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"""Zinc fingers, C2H2-type"", ""-"""	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.1810C>T	19.37:g.38055520G>A	ENSP00000333660:p.His604Tyr					uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Missense_Mutation_p.H604Y	p.H604Y	NM_016536	NP_057620	Q7Z3V5	ZN571_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	1911	-			604			C2H2-type 17.		Q2HIY0|Q3ZCU3|Q9NZX7	Missense_Mutation	SNP	ENST00000328550.2	37	c.1810C>T	CCDS12505.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.841220	0.51057	.	.	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	D;D;D	0.96168	-3.93;-3.93;-3.93	3.67	3.67	0.42095	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.97917	0.9315	H	0.96239	3.79	0.09310	N	1	D	0.57257	0.979	P	0.57009	0.811	D	0.93235	0.6621	9	0.87932	D	0	.	12.3732	0.55265	0.0:0.0:1.0:0.0	.	604	Q7Z3V5	ZN571_HUMAN	Y	604	ENSP00000333660:H604Y;ENSP00000392638:H604Y;ENSP00000351594:H604Y	ENSP00000333660:H604Y	H	-	1	0	ZNF571	42747360	0.984000	0.35163	0.106000	0.21319	0.106000	0.19336	3.298000	0.51818	1.855000	0.53841	0.460000	0.39030	CAT		PASS	0.348	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536		24	33	24	33	---	---	---	---
ZNF571	51276	broad.mit.edu	37	19	38056780	38056780	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr19:38056780G>A	ENST00000328550.2	-	4	649	c.550C>T	c.(550-552)Caa>Taa	p.Q184*	ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000593133.1_Nonsense_Mutation_p.Q184*|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000358744.3_Nonsense_Mutation_p.Q184*|ZNF571_ENST00000451802.2_Nonsense_Mutation_p.Q184*|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000590838.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	184					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.Q184*(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCTGATGTTGAATATAGCTT	0.363																																						uc002ogt.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(550-552)CAA>TAA		zinc finger protein 571							93.0	94.0	93.0					19																	38056780		2203	4300	6503	SO:0001587	stop_gained	51276				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38056780G>A	AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"""Zinc fingers, C2H2-type"", ""-"""	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.550C>T	19.37:g.38056780G>A	ENSP00000333660:p.Gln184*					uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Nonsense_Mutation_p.Q184*	p.Q184*	NM_016536	NP_057620	Q7Z3V5	ZN571_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	651	-			184			C2H2-type 2; atypical.		Q2HIY0|Q3ZCU3|Q9NZX7	Nonsense_Mutation	SNP	ENST00000328550.2	37	c.550C>T	CCDS12505.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438817	0.43326	.	.	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	.	.	.	3.56	-3.4	0.04853	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	1.1568	0.01797	0.2193:0.3156:0.3048:0.1602	.	.	.	.	X	184	.	ENSP00000333660:Q184X	Q	-	1	0	ZNF571	42748620	.	.	0.001000	0.08648	0.022000	0.10575	.	.	-0.454000	0.07066	0.313000	0.20887	CAA		PASS	0.363	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536		18	70	18	70	---	---	---	---
SIPA1L3	23094	broad.mit.edu	37	19	38573263	38573263	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr19:38573263A>G	ENST00000222345.6	+	3	1567	c.1058A>G	c.(1057-1059)aAc>aGc	p.N353S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	353					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)	p.N353S(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TTCGACCTCAACGAGGCGGCC	0.706																																						uc002ohk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1057-1059)AAC>AGC		signal-induced proliferation-associated 1 like							28.0	27.0	27.0					19																	38573263		2174	4252	6426	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38573263A>G	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.1058A>G	19.37:g.38573263A>G	ENSP00000222345:p.Asn353Ser						p.N353S	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	1567	+			353					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.1058A>G	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.544737	0.45280	.	.	ENSG00000105738	ENST00000222345	T	0.77229	-1.08	5.04	4.0	0.46444	.	0.166270	0.52532	D	0.000070	T	0.65281	0.2676	L	0.28054	0.825	0.32759	N	0.50534	P	0.38992	0.653	B	0.38921	0.285	T	0.69120	-0.5229	10	0.33141	T	0.24	-26.8552	10.8685	0.46869	0.8416:0.1584:0.0:0.0	.	353	O60292	SI1L3_HUMAN	S	353	ENSP00000222345:N353S	ENSP00000222345:N353S	N	+	2	0	SIPA1L3	43265103	0.944000	0.32072	0.999000	0.59377	0.969000	0.65631	3.411000	0.52672	0.727000	0.32360	0.460000	0.39030	AAC		PASS	0.706	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		26	34	26	34	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38956903	38956903	+	Missense_Mutation	SNP	C	C	A	rs139006437		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr19:38956903C>A	ENST00000359596.3	+	24	3043	c.3043C>A	c.(3043-3045)Cgc>Agc	p.R1015S	RYR1_ENST00000360985.3_Missense_Mutation_p.R1015S|RYR1_ENST00000355481.4_Missense_Mutation_p.R1015S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1015	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.R1015C(1)|p.R1015S(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CATCCCAGCGCGCCGAAACCC	0.677																																						uc002oit.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(3043-3045)CGC>AGC		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						43.0	41.0	42.0					19																	38956903		2199	4299	6498	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38956903C>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3043C>A	19.37:g.38956903C>A	ENSP00000352608:p.Arg1015Ser					RYR1_uc002oiu.2_Missense_Mutation_p.R1015S	p.R1015S	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		24	3173	+	all_cancers(60;7.91e-06)		1015			6 X approximate repeats.|2.|Cytoplasmic.|B30.2/SPRY 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.3043C>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	c	7.778	0.708859	0.15239	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.91464	-2.85;-2.85;-2.85	3.8	3.8	0.43715	B30.2/SPRY domain (1);Ryanodine receptor Ryr (1);	0.206543	0.30134	U	0.010337	D	0.92880	0.7735	M	0.68952	2.095	0.31435	N	0.672697	P;D	0.61080	0.881;0.989	P;D	0.65010	0.718;0.931	D	0.91445	0.5177	10	0.72032	D	0.01	.	8.6827	0.34218	0.2273:0.7727:0.0:0.0	.	1015;1015	P21817-2;P21817	.;RYR1_HUMAN	S	1015	ENSP00000352608:R1015S;ENSP00000347667:R1015S;ENSP00000354254:R1015S	ENSP00000347667:R1015S	R	+	1	0	RYR1	43648743	0.427000	0.25514	0.934000	0.37439	0.291000	0.27294	-0.266000	0.08631	1.988000	0.58038	0.444000	0.29173	CGC		PASS	0.677	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			11	31	11	31	---	---	---	---
PVRL2	5819	broad.mit.edu	37	19	45375120	45375120	+	Silent	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr19:45375120G>A	ENST00000252483.5	+	3	489	c.489G>A	c.(487-489)aaG>aaA	p.K163K	PVRL2_ENST00000252485.4_Silent_p.K163K	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	163	Ig-like C2-type 1.				acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)	p.K163K(2)		breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CCAAGCCCAAGAACCAAGCTG	0.622																																						uc002ozw.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(487-489)AAG>AAA		poliovirus receptor related 2 isoform delta							33.0	31.0	32.0					19																	45375120		2203	4299	6502	SO:0001819	synonymous_variant	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45375120G>A	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.489G>A	19.37:g.45375120G>A						PVRL2_uc002ozv.2_Silent_p.K163K	p.K163K	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	3	879	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	163			Ig-like C2-type 1.|Extracellular (Potential).		A8K5L5|O75455|Q6IBI6|Q96J29	Silent	SNP	ENST00000252483.5	37	c.489G>A	CCDS42576.1																																																																																				PASS	0.622	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		10	25	10	25	---	---	---	---
CCDC8	83987	broad.mit.edu	37	19	46915713	46915713	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr19:46915713G>A	ENST00000307522.3	-	1	1128	c.355C>T	c.(355-357)Cag>Tag	p.Q119*		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	119					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.Q119*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CGCGGGCCCTGGCGGCTCTTG	0.642																																						uc002pep.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(355-357)CAG>TAG		coiled-coil domain containing 8							51.0	57.0	55.0					19																	46915713		2203	4300	6503	SO:0001587	stop_gained	83987					plasma membrane		g.chr19:46915713G>A	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.355C>T	19.37:g.46915713G>A	ENSP00000303158:p.Gln119*						p.Q119*	NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	1207	-			119					Q8TB26	Nonsense_Mutation	SNP	ENST00000307522.3	37	c.355C>T	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	G	38	6.881306	0.97908	.	.	ENSG00000169515	ENST00000307522;ENST00000540252	.	.	.	3.78	-4.05	0.03998	.	2.364240	0.02238	N	0.065488	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.6536	0.34049	0.0:0.2755:0.5448:0.1797	.	.	.	.	X	119	.	ENSP00000303158:Q119X	Q	-	1	0	CCDC8	51607553	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	-0.434000	0.06939	-0.956000	0.03631	-0.262000	0.10625	CAG		PASS	0.642	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		48	74	48	74	---	---	---	---
GRIN2D	2906	broad.mit.edu	37	19	48945182	48945182	+	Silent	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr19:48945182C>T	ENST00000263269.3	+	11	2497	c.2409C>T	c.(2407-2409)atC>atT	p.I803I		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	803					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)	p.I803I(1)		autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGCGGCCCATCGACCTGGCGT	0.662																																						uc002pjc.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(3)	6						c.(2407-2409)ATC>ATT		N-methyl-D-aspartate receptor subunit 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						37.0	34.0	35.0					19																	48945182		2203	4300	6503	SO:0001819	synonymous_variant	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48945182C>T	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.2409C>T	19.37:g.48945182C>T						GRIN2D_uc010elx.2_Silent_p.I38I	p.I803I	NM_000836	NP_000827	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	11	2497	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	803			Extracellular (Potential).			Silent	SNP	ENST00000263269.3	37	c.2409C>T	CCDS12719.1																																																																																				PASS	0.662	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			4	66	4	66	---	---	---	---
HAS1	3036	broad.mit.edu	37	19	52220298	52220298	+	Missense_Mutation	SNP	C	C	G	rs200078680		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr19:52220298C>G	ENST00000222115.1	-	3	885	c.851G>C	c.(850-852)cGa>cCa	p.R284P	HAS1_ENST00000601714.1_Missense_Mutation_p.R291P|HAS1_ENST00000540069.2_Missense_Mutation_p.R283P|HAS1_ENST00000594621.1_Missense_Mutation_p.R138P	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	284					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)	p.R284P(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TACCCAGTATCGCAGGCTGCT	0.597																																					NSCLC(132;636 2450 45807 47979)	uc002pxo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(850-852)CGA>CCA		hyaluronan synthase 1							113.0	107.0	109.0					19																	52220298		2203	4300	6503	SO:0001583	missense	3036				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	g.chr19:52220298C>G	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.851G>C	19.37:g.52220298C>G	ENSP00000222115:p.Arg284Pro					HAS1_uc010epc.1_5'UTR|HAS1_uc010epd.1_Missense_Mutation_p.R249P|HAS1_uc002pxn.1_Missense_Mutation_p.R291P|HAS1_uc002pxp.1_Missense_Mutation_p.R283P	p.R284P	NM_001523	NP_001514	Q92839	HAS1_HUMAN		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	3	886	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	284			Cytoplasmic (Potential).		Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	37	c.851G>C	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	c	23.1	4.370211	0.82573	.	.	ENSG00000105509	ENST00000540069;ENST00000222115;ENST00000376737;ENST00000376738	T;T	0.48522	0.81;0.81	4.08	4.08	0.47627	.	0.000000	0.64402	U	0.000001	T	0.75376	0.3841	M	0.93763	3.455	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.83056	-0.0150	10	0.87932	D	0	-12.9004	14.2156	0.65790	0.0:1.0:0.0:0.0	.	283;284;283	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	P	283;284;141;138	ENSP00000445021:R283P;ENSP00000222115:R284P	ENSP00000222115:R284P	R	-	2	0	HAS1	56912110	0.933000	0.31639	1.000000	0.80357	0.992000	0.81027	7.676000	0.84012	2.014000	0.59158	0.489000	0.48404	CGA		PASS	0.597	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		33	101	33	101	---	---	---	---
ZNF600	162966	broad.mit.edu	37	19	53270592	53270592	+	Nonsense_Mutation	SNP	A	A	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr19:53270592A>T	ENST00000338230.3	-	3	684	c.417T>A	c.(415-417)taT>taA	p.Y139*		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	139					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.Y139*(2)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		AATTATTCCCATAGTTATTAG	0.373																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)	uc002qab.3																			2	Substitution - Nonsense(2)		prostate(1)|lung(1)		0						c.(415-417)TAT>TAA		zinc finger protein 600							108.0	114.0	112.0					19																	53270592		2200	4300	6500	SO:0001587	stop_gained	162966				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53270592A>T	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.417T>A	19.37:g.53270592A>T	ENSP00000344791:p.Tyr139*						p.Y139*	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)	3	703	-			139					Q6MZR0	Nonsense_Mutation	SNP	ENST00000338230.3	37	c.417T>A	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	17.90	3.501113	0.64298	.	.	ENSG00000189190	ENST00000338230	.	.	.	1.15	1.15	0.20763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	4.5436	0.12071	1.0:0.0:0.0:0.0	.	.	.	.	X	139	.	ENSP00000344791:Y139X	Y	-	3	2	ZNF600	57962404	0.119000	0.22226	0.001000	0.08648	0.002000	0.02628	0.566000	0.23593	0.813000	0.34350	0.248000	0.18094	TAT		PASS	0.373	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		80	133	80	133	---	---	---	---
MIR518A1	574488	broad.mit.edu	37	19	54233171	54233171	+	RNA	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr19:54233171G>A	ENST00000385068.1	+	0	0				MIR518E_ENST00000385252.1_RNA|MIR526A2_ENST00000390198.1_RNA	NR_030210.1				microRNA 518a-1																		GAGTGTTAACGCTTTGAGAAA	0.433																																						hsa-mir-518e|MI0003169																			0					0															59.0	56.0	57.0					19																	54233171		1568	3582	5150			574487							g.chr19:54233171G>A			19q13.42	2011-09-12		2008-12-18	ENSG00000207803	ENSG00000207803		"""ncRNAs / Micro RNAs"""	32120	non-coding RNA	RNA, micro				MIRN518A-1, MIRN518A1			Standard	NR_030210		Approved	hsa-mir-518a-1	uc021van.1				19.37:g.54233171G>A						MIR518A1_hsa-mir-518a-1|MI0003170_5'Flank										+									RNA	SNP	ENST00000385068.1	37	c.80G>A																																																																																					PASS	0.433	MIR518A1-201	KNOWN	basic	miRNA	miRNA		NR_030210		5	63	5	63	---	---	---	---
NLRP12	91662	broad.mit.edu	37	19	54310894	54310894	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr19:54310894C>T	ENST00000324134.6	-	4	2266	c.2098G>A	c.(2098-2100)Gcc>Acc	p.A700T	NLRP12_ENST00000391772.1_Missense_Mutation_p.A701T|NLRP12_ENST00000354278.3_Missense_Mutation_p.A700T|NLRP12_ENST00000391775.3_Missense_Mutation_p.A700T|NLRP12_ENST00000535162.1_Missense_Mutation_p.A700T|NLRP12_ENST00000351894.4_Missense_Mutation_p.A700T|NLRP12_ENST00000391773.1_Missense_Mutation_p.A701T|NLRP12_ENST00000345770.5_Missense_Mutation_p.A701T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	700					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.A700T(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCACTGTAGGCGTCCAGCAGA	0.552																																						uc002qch.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(2098-2100)GCC>ACC		NLR family, pyrin domain containing 12 isoform							105.0	88.0	94.0					19																	54310894		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54310894C>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2098G>A	19.37:g.54310894C>T	ENSP00000319377:p.Ala700Thr					NLRP12_uc010eqw.2_5'UTR|NLRP12_uc002qci.3_Missense_Mutation_p.A700T|NLRP12_uc002qcj.3_Missense_Mutation_p.A701T|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.A701T	p.A700T	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	4	2318	-	Ovarian(34;0.19)		700					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.2098G>A	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	4.409	0.075573	0.08485	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.90069	-2.54;-2.54;-2.54;-2.54;-2.54;-2.61;-2.61	3.56	-0.241	0.13043	.	0.730502	0.11206	U	0.588261	T	0.78259	0.4255	L	0.31845	0.965	0.09310	N	0.999997	B;B;B;B	0.23442	0.085;0.048;0.085;0.048	B;B;B;B	0.18263	0.019;0.021;0.019;0.007	T	0.60281	-0.7294	10	0.14252	T	0.57	.	5.6433	0.17577	0.0:0.5732:0.0:0.4268	.	701;700;700;700	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	T	700;700;700;700;700;701;701;701	ENSP00000319377:A700T;ENSP00000438030:A700T;ENSP00000340473:A700T;ENSP00000346231:A700T;ENSP00000375655:A700T;ENSP00000375653:A701T;ENSP00000375652:A701T	ENSP00000319377:A700T	A	-	1	0	NLRP12	59002706	0.000000	0.05858	0.086000	0.20670	0.097000	0.18754	-0.198000	0.09505	0.195000	0.20347	0.485000	0.47835	GCC		PASS	0.552	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		13	70	13	70	---	---	---	---
PPP1R12C	54776	broad.mit.edu	37	19	55607648	55607648	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr19:55607648G>T	ENST00000263433.3	-	7	1022	c.1007C>A	c.(1006-1008)tCt>tAt	p.S336Y	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.S262Y|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.S336Y	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C									p.S336Y(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TTTGCTGCTAGAGGGCGCTTG	0.652																																						uc002qix.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1006-1008)TCT>TAT		protein phosphatase 1, regulatory subunit 12C							93.0	105.0	101.0					19																	55607648		2203	4300	6503	SO:0001583	missense	54776					cytoplasm		g.chr19:55607648G>T	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14947	protein-coding gene	gene with protein product	"""myosin-binding subunit 85"""	613245	"""leukocyte receptor cluster (LRC) member 3"", ""protein phosphatase 1, regulatory (inhibitor) subunit 12C"""	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.1007C>A	19.37:g.55607648G>T	ENSP00000263433:p.Ser336Tyr					PPP1R12C_uc010yfs.1_Missense_Mutation_p.S262Y|PPP1R12C_uc002qiy.2_Missense_Mutation_p.S336Y	p.S336Y	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	7	1023	-			336						Missense_Mutation	SNP	ENST00000263433.3	37	c.1007C>A	CCDS12916.1	.	.	.	.	.	.	.	.	.	.	g	0.015	-1.552806	0.00918	.	.	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	T;T;T	0.70282	-0.32;-0.34;-0.47	4.58	-0.408	0.12381	.	1.280670	0.05386	N	0.538128	T	0.53481	0.1799	L	0.34521	1.04	0.09310	N	1	B;B;B	0.22346	0.068;0.003;0.068	B;B;B	0.15484	0.013;0.002;0.006	T	0.21211	-1.0252	10	0.19590	T	0.45	.	2.9861	0.05969	0.1791:0.1414:0.5376:0.1419	.	262;336;336	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	Y	336;336;262	ENSP00000263433:S336Y;ENSP00000365573:S336Y;ENSP00000387833:S262Y	ENSP00000263433:S336Y	S	-	2	0	PPP1R12C	60299460	0.013000	0.17824	0.000000	0.03702	0.006000	0.05464	0.977000	0.29475	-0.086000	0.12550	-0.807000	0.03187	TCT		PASS	0.652	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		82	202	82	202	---	---	---	---
ZNF776	284309	broad.mit.edu	37	19	58265931	58265931	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr19:58265931A>C	ENST00000317178.5	+	3	1696	c.1433A>C	c.(1432-1434)cAt>cCt	p.H478P	ZNF776_ENST00000489376.1_3'UTR	NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	478					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.H436P(1)|p.H478P(1)		cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		CTCATTCGACATCAGCAGATT	0.453																																						uc002qpx.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1432-1434)CAT>CCT		zinc finger protein 776							125.0	108.0	114.0					19																	58265931		2203	4300	6503	SO:0001583	missense	284309				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58265931A>C	AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"""Zinc fingers, C2H2-type"", ""-"""	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.1433A>C	19.37:g.58265931A>C	ENSP00000321812:p.His478Pro					ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Missense_Mutation_p.H478P	p.H478P	NM_173632	NP_775903	Q68DI1	ZN776_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)	3	1656	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	478			C2H2-type 10; degenerate.		Q6ZS36|Q8N968	Missense_Mutation	SNP	ENST00000317178.5	37	c.1433A>C	CCDS12962.2	.	.	.	.	.	.	.	.	.	.	A	18.58	3.654272	0.67472	.	.	ENSG00000152443	ENST00000317178	D	0.86865	-2.18	1.86	1.86	0.25419	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94683	0.8285	H	0.97131	3.945	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.999	D	0.93631	0.6956	9	0.87932	D	0	.	8.4641	0.32944	1.0:0.0:0.0:0.0	.	478;478	Q68DI1;B4DSC6	ZN776_HUMAN;.	P	478	ENSP00000321812:H478P	ENSP00000321812:H478P	H	+	2	0	ZNF776	62957743	0.990000	0.36364	0.003000	0.11579	0.881000	0.50899	4.744000	0.62118	0.850000	0.35239	0.260000	0.18958	CAT		PASS	0.453	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346722.2	NM_173632		39	44	39	44	---	---	---	---
ZNF418	147686	broad.mit.edu	37	19	58438048	58438048	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr19:58438048G>C	ENST00000396147.1	-	4	1792	c.1501C>G	c.(1501-1503)Cag>Gag	p.Q501E	ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000595830.1_Missense_Mutation_p.Q501E|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000599852.1_Missense_Mutation_p.Q416E|ZNF418_ENST00000425570.3_Missense_Mutation_p.Q522E	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	501					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.Q501E(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TGAACTCTCTGATGAACACGA	0.448																																						uc002qqs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1501-1503)CAG>GAG		zinc finger protein 418							134.0	136.0	135.0					19																	58438048		2197	4299	6496	SO:0001583	missense	147686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58438048G>C	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.1501C>G	19.37:g.58438048G>C	ENSP00000379451:p.Gln501Glu					ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.Q416E	p.Q501E	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)	4	1793	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	501			C2H2-type 11.		Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	ENST00000396147.1	37	c.1501C>G	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	8.369	0.834896	0.16820	.	.	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.17854	2.25;2.25	2.24	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11067	0.0270	N	0.20685	0.6	0.19775	N	0.99996	B	0.21309	0.054	B	0.20955	0.032	T	0.28996	-1.0026	9	0.62326	D	0.03	.	8.2451	0.31684	0.0:0.0:0.58:0.42	.	501	Q8TF45	ZN418_HUMAN	E	501;522;467	ENSP00000379451:Q501E;ENSP00000407039:Q522E	ENSP00000379451:Q501E	Q	-	1	0	ZNF418	63129860	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.194000	0.17135	0.259000	0.21709	-0.366000	0.07423	CAG		PASS	0.448	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460		36	158	36	158	---	---	---	---
ZNF606	80095	broad.mit.edu	37	19	58490952	58490952	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr19:58490952C>A	ENST00000341164.4	-	7	1716	c.1096G>T	c.(1096-1098)Ggt>Tgt	p.G366C	ZNF606_ENST00000536132.1_Missense_Mutation_p.G276C	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	366					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G366C(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TCTACAGTACCAATTTTTTGA	0.343																																						uc002qqw.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1096-1098)GGT>TGT		zinc finger protein 606							106.0	93.0	97.0					19																	58490952		2203	4300	6503	SO:0001583	missense	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58490952C>A	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1096G>T	19.37:g.58490952C>A	ENSP00000343617:p.Gly366Cys					ZNF606_uc010yhp.1_Missense_Mutation_p.G276C	p.G366C	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	1714	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	366					A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	c.1096G>T	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.994376	0.35226	.	.	ENSG00000166704	ENST00000341164;ENST00000536132;ENST00000551380	T;T;T	0.15139	2.45;2.45;2.45	4.62	1.46	0.22682	.	0.325766	0.22540	N	0.058736	T	0.08935	0.0221	N	0.08118	0	0.32509	N	0.537831	P	0.50710	0.938	P	0.45946	0.498	T	0.16837	-1.0389	10	0.87932	D	0	.	4.421	0.11481	0.0:0.4537:0.2751:0.2712	.	366	Q8WXB4	ZN606_HUMAN	C	366;276;366	ENSP00000343617:G366C;ENSP00000445624:G276C;ENSP00000446972:G366C	ENSP00000343617:G366C	G	-	1	0	ZNF606	63182764	0.003000	0.15002	1.000000	0.80357	0.992000	0.81027	1.129000	0.31381	0.673000	0.31224	0.655000	0.94253	GGT		PASS	0.343	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		54	100	54	100	---	---	---	---
ZNF544	27300	broad.mit.edu	37	19	58773197	58773197	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr19:58773197G>T	ENST00000596652.1	+	6	1459	c.1225G>T	c.(1225-1227)Gag>Tag	p.E409*	ZNF544_ENST00000600044.1_Nonsense_Mutation_p.E381*|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000599953.1_Nonsense_Mutation_p.E267*|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000269829.4_Nonsense_Mutation_p.E409*|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000415203.2_Nonsense_Mutation_p.E381*|ZNF544_ENST00000600220.1_Nonsense_Mutation_p.E381*|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596929.1_Intron			Q6NX49	ZN544_HUMAN	zinc finger protein 544	409					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.E409*(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		GAAGCCCTATGAGTGTGACCT	0.448																																						uc010euo.2																			1	Substitution - Nonsense(1)		lung(1)	pancreas(1)	1						c.(1225-1227)GAG>TAG		zinc finger protein 544							85.0	85.0	85.0					19																	58773197		2203	4300	6503	SO:0001587	stop_gained	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58773197G>T	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.1225G>T	19.37:g.58773197G>T	ENSP00000469635:p.Glu409*					ZNF544_uc010yhw.1_RNA|ZNF544_uc010yhx.1_Nonsense_Mutation_p.E381*|ZNF544_uc010yhy.1_Nonsense_Mutation_p.E381*|ZNF544_uc002qrt.3_Nonsense_Mutation_p.E267*|ZNF544_uc002qru.3_Nonsense_Mutation_p.E267*|uc002qrx.1_Intron	p.E409*	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	7	1699	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	409			C2H2-type 3.		A8K6J1|Q9UEX4	Nonsense_Mutation	SNP	ENST00000596652.1	37	c.1225G>T	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	G	37	6.601221	0.97697	.	.	ENSG00000198131	ENST00000269829;ENST00000415203;ENST00000441758	.	.	.	2.66	0.14	0.14804	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	6.1438	0.20275	0.0:0.1803:0.4515:0.3681	.	.	.	.	X	409;381;73	.	ENSP00000269829:E409X	E	+	1	0	ZNF544	63465009	0.000000	0.05858	0.001000	0.08648	0.263000	0.26337	-2.674000	0.00842	-0.004000	0.14419	0.491000	0.48974	GAG		PASS	0.448	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		15	98	15	98	---	---	---	---
SIRPB2	284759	broad.mit.edu	37	20	1456912	1456912	+	Missense_Mutation	SNP	G	G	A	rs372017563		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr20:1456912G>A	ENST00000359801.3	-	5	965	c.929C>T	c.(928-930)gCc>gTc	p.A310V	SIRPB2_ENST00000444444.2_Missense_Mutation_p.A212V|SIRPB2_ENST00000608747.1_5'Flank	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	344	Ig-like C1-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.A409V(1)|p.A310V(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGTAGCCAGGGCCAGTAGGAG	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19115	0.0		0.0	False		,,,				2504	0.0					uc002wfg.2																			2	Substitution - Missense(2)		lung(2)		0						c.(928-930)GCC>GTC		signal-regulatory protein beta 2 isoform 1		G	VAL/ALA,VAL/ALA	1,3135		0,1,1567	92.0	82.0	85.0		929,635	-1.2	0.0	20		85	0,7164		0,0,3582	no	missense,missense	SIRPB2	NM_001122962.1,NM_001134836.1	64,64	0,1,5149	AA,AG,GG		0.0,0.0319,0.0097	benign,benign	310/343,212/245	1456912	1,10299	1568	3582	5150	SO:0001583	missense	284759					integral to membrane		g.chr20:1456912G>A	AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16247	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type 1-like"", ""protein tyrosine phosphatase, non-receptor type substrate 1-like 3"""	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.929C>T	20.37:g.1456912G>A	ENSP00000352849:p.Ala310Val					SIRPB2_uc002wfh.3_Missense_Mutation_p.A212V	p.A310V	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN			5	1157	-			310			Cytoplasmic (Potential).		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000359801.3	37	c.929C>T	CCDS42849.1	.	.	.	.	.	.	.	.	.	.	G	5.371	0.253760	0.10185	3.19E-4	0.0	ENSG00000196209	ENST00000359801;ENST00000444444	T;T	0.02944	4.29;4.1	3.73	-1.2	0.09554	.	1.630830	0.04480	N	0.377610	T	0.01661	0.0053	N	0.08118	0	0.09310	N	1	B;B	0.17038	0.02;0.02	B;B	0.09377	0.004;0.004	T	0.46978	-0.9152	10	0.23302	T	0.38	-19.5352	3.8729	0.09044	0.3635:0.0:0.4716:0.1649	.	212;310	E9PCW6;Q5JXA9	.;SIRB2_HUMAN	V	310;212	ENSP00000352849:A310V;ENSP00000402438:A212V	ENSP00000352849:A310V	A	-	2	0	SIRPB2	1404912	0.409000	0.25368	0.019000	0.16419	0.005000	0.04900	-0.388000	0.07352	-0.180000	0.10637	0.491000	0.48974	GCC		PASS	0.602	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077544.1	NM_178459		5	144	5	144	---	---	---	---
SMOX	54498	broad.mit.edu	37	20	4163303	4163303	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr20:4163303G>C	ENST00000305958.4	+	5	1402	c.1177G>C	c.(1177-1179)Gag>Cag	p.E393Q	SMOX_ENST00000278795.3_Missense_Mutation_p.E340Q|SMOX_ENST00000339123.6_Missense_Mutation_p.E340Q|SMOX_ENST00000379460.2_Missense_Mutation_p.E393Q|SMOX_ENST00000346595.2_Intron	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	393					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)	p.E393Q(1)|p.E340Q(1)		breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	GGACGAAGCAGAGAGCCACAC	0.597																																						uc002wkm.1																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(1177-1179)GAG>CAG		spermine oxidase isoform 1	Spermine(DB00127)						128.0	115.0	120.0					20																	4163303		2203	4300	6503	SO:0001583	missense	54498				polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	g.chr20:4163303G>C	AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"""chromosome 20 open reading frame 16"""	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.1177G>C	20.37:g.4163303G>C	ENSP00000307252:p.Glu393Gln					SMOX_uc002wkk.1_Missense_Mutation_p.E340Q|SMOX_uc002wkl.1_Missense_Mutation_p.E340Q|SMOX_uc002wkn.1_Intron|SMOX_uc002wkp.2_Missense_Mutation_p.E393Q|SMOX_uc010zqo.1_Missense_Mutation_p.E317Q|SMOX_uc002wko.1_Missense_Mutation_p.E393Q	p.E393Q	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN			5	1378	+			393					A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Missense_Mutation	SNP	ENST00000305958.4	37	c.1177G>C	CCDS13075.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.339519	0.24339	.	.	ENSG00000088826	ENST00000339123;ENST00000305958;ENST00000278795;ENST00000379460;ENST00000457205	T;T;T;T;T	0.31769	1.49;1.91;1.5;1.91;1.48	5.5	5.5	0.81552	Amine oxidase (1);	0.302477	0.38058	N	0.001822	T	0.25531	0.0621	L	0.28504	0.86	0.50313	D	0.999861	B;B;B;B;B	0.28233	0.01;0.204;0.103;0.022;0.204	B;B;B;B;B	0.27715	0.012;0.082;0.038;0.009;0.046	T	0.03121	-1.1070	10	0.30078	T	0.28	-23.6715	16.9541	0.86253	0.0:0.0:1.0:0.0	.	317;393;393;340;340	B4DE63;Q9NWM0-6;Q9NWM0;Q9NWM0-2;Q9NWM0-4	.;.;SMOX_HUMAN;.;.	Q	340;393;340;393;250	ENSP00000344595:E340Q;ENSP00000307252:E393Q;ENSP00000278795:E340Q;ENSP00000368773:E393Q;ENSP00000407269:E250Q	ENSP00000278795:E340Q	E	+	1	0	SMOX	4111303	1.000000	0.71417	0.832000	0.32986	0.488000	0.33401	4.614000	0.61183	2.602000	0.87976	0.650000	0.86243	GAG		PASS	0.597	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842		15	82	15	82	---	---	---	---
BTBD3	22903	broad.mit.edu	37	20	11903866	11903866	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr20:11903866G>A	ENST00000405977.1	+	5	1746	c.1121G>A	c.(1120-1122)cGc>cAc	p.R374H	BTBD3_ENST00000399006.2_Missense_Mutation_p.R313H|BTBD3_ENST00000378226.2_Missense_Mutation_p.R374H|BTBD3_ENST00000254977.3_Missense_Mutation_p.R313H	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	374					cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.R374H(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						GTCCCCCAGCGCTGTCACCGT	0.502																																						uc002wnz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1120-1122)CGC>CAC		BTB/POZ domain containing protein 3 isoform a							81.0	72.0	75.0					20																	11903866		2203	4300	6503	SO:0001583	missense	22903							g.chr20:11903866G>A	AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"""BTB/POZ domain containing"""	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.1121G>A	20.37:g.11903866G>A	ENSP00000384545:p.Arg374His					BTBD3_uc002wny.2_Missense_Mutation_p.R313H|BTBD3_uc002woa.2_Missense_Mutation_p.R313H|BTBD3_uc010zrf.1_Missense_Mutation_p.R223H|BTBD3_uc010zrg.1_Missense_Mutation_p.R223H|BTBD3_uc010zrh.1_Missense_Mutation_p.R223H	p.R374H	NM_014962	NP_055777	Q9Y2F9	BTBD3_HUMAN			4	1480	+			374					D3DW19|Q5JY73	Missense_Mutation	SNP	ENST00000405977.1	37	c.1121G>A	CCDS13113.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627827	0.87560	.	.	ENSG00000132640	ENST00000254977;ENST00000399006;ENST00000405977;ENST00000378226	T;T;T;T	0.79845	-1.27;-1.27;-1.31;-1.31	6.16	6.16	0.99307	.	0.045969	0.85682	D	0.000000	D	0.85177	0.5637	M	0.80028	2.48	0.80722	D	1	P	0.51057	0.941	P	0.45558	0.485	D	0.86637	0.1889	10	0.66056	D	0.02	.	19.848	0.96722	0.0:0.0:1.0:0.0	.	374	Q9Y2F9	BTBD3_HUMAN	H	313;313;374;374	ENSP00000254977:R313H;ENSP00000381971:R313H;ENSP00000384545:R374H;ENSP00000367471:R374H	ENSP00000254977:R313H	R	+	2	0	BTBD3	11851866	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.346000	0.72999	2.937000	0.99478	0.650000	0.86243	CGC		PASS	0.502	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3			9	82	9	82	---	---	---	---
NAPB	63908	broad.mit.edu	37	20	23401981	23401981	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr20:23401981C>G	ENST00000377026.4	-	1	144	c.59G>C	c.(58-60)cGa>cCa	p.R20P	NAPB_ENST00000398425.3_5'UTR|NAPB_ENST00000432543.2_Missense_Mutation_p.R20P|NAPB_ENST00000472855.1_5'UTR	NM_001283018.1|NM_001283020.1|NM_022080.2	NP_001269947.1|NP_001269949.1|NP_071363.1	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, beta	20					intracellular protein transport (GO:0006886)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	extracellular vesicular exosome (GO:0070062)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)		p.R20P(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					GGCCTTGACTCGCTTCTCGGC	0.701																																						uc002wta.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(58-60)CGA>CCA		N-ethylmaleimide-sensitive factor attachment							53.0	35.0	41.0					20																	23401981		2182	4256	6438	SO:0001583	missense	63908				intracellular protein transport|vesicle-mediated transport	membrane		g.chr20:23401981C>G	AK022817	CCDS13152.1, CCDS63241.1, CCDS63242.1, CCDS74710.1	20p12.3-p11.21	2008-08-01			ENSG00000125814	ENSG00000125814			15751	protein-coding gene	gene with protein product		611270				8455721	Standard	NM_022080		Approved	SNAP-BETA, SNAPB	uc002wta.3	Q9H115	OTTHUMG00000032062	ENST00000377026.4:c.59G>C	20.37:g.23401981C>G	ENSP00000366225:p.Arg20Pro					NAPB_uc002wtc.2_5'UTR|NAPB_uc002wtb.2_Missense_Mutation_p.R20P|NAPB_uc002wtd.3_RNA|NAPB_uc010zst.1_Missense_Mutation_p.R20P	p.R20P	NM_022080	NP_071363	Q9H115	SNAB_HUMAN			1	176	-	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)		20					B4DK44|Q4G0M0|Q4G187|Q5JXF9|Q8N3C4	Missense_Mutation	SNP	ENST00000377026.4	37	c.59G>C	CCDS13152.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810087	0.50421	.	.	ENSG00000125814	ENST00000377026;ENST00000432543	T;T	0.76316	1.5;-1.01	5.11	4.17	0.49024	Tetratricopeptide-like helical (1);	0.149820	0.45867	D	0.000325	T	0.75606	0.3872	L	0.52573	1.65	0.80722	D	1	P;P;P	0.42483	0.781;0.781;0.584	P;B;P	0.44422	0.449;0.335;0.449	T	0.78368	-0.2231	10	0.87932	D	0	7.2649	12.428	0.55559	0.0:0.9181:0.0:0.0819	.	20;20;20	B4DK44;B4DIV0;Q9H115	.;.;SNAB_HUMAN	P	20	ENSP00000366225:R20P;ENSP00000413600:R20P	ENSP00000366225:R20P	R	-	2	0	NAPB	23349981	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	3.001000	0.49488	1.394000	0.46624	-0.253000	0.11424	CGA		PASS	0.701	NAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078317.2	NM_022080		3	4	3	4	---	---	---	---
DUSP15	128853	broad.mit.edu	37	20	30436696	30436696	+	Silent	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr20:30436696C>T	ENST00000278979.3	-	9	715	c.639G>A	c.(637-639)ccG>ccA	p.P213P				Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	213					positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.P213P(1)		large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ACTTTGGGTCCGGTGACCATC	0.567																																						uc002wwu.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(637-639)CCG>CCA		RecName: Full=Dual specificity protein phosphatase 15;          EC=3.1.3.48;          EC=3.1.3.16; AltName: Full=Vaccinia virus VH1-related dual-specific protein phosphatase Y; AltName: Full=VH1-related member Y;							31.0	32.0	32.0					20																	30436696		876	1991	2867	SO:0001819	synonymous_variant	128853					cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr20:30436696C>T		CCDS13193.1, CCDS42862.1	20q11.21	2011-06-09	2005-03-09		ENSG00000149599	ENSG00000149599		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16236	protein-coding gene	gene with protein product			"""dual specificity phosphatase-like 15"""			15138252	Standard	NM_080611		Approved	bA243J16.6, VHY	uc002wwx.1	Q9H1R2	OTTHUMG00000032182	ENST00000278979.3:c.639G>A	20.37:g.30436696C>T							p.P213P			Q9H1R2	DUS15_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		9	716	-			213					A6NH79|A8MVC8|Q5QP62|Q5QP63|Q5QP65|Q6PGN7|Q8N826|Q9BX24	Silent	SNP	ENST00000278979.3	37	c.639G>A		.	.	.	.	.	.	.	.	.	.	C	2.609	-0.291246	0.05568	.	.	ENSG00000149599	ENST00000447647	.	.	.	3.6	-7.2	0.01495	.	.	.	.	.	T	0.21881	0.0527	.	.	.	0.29669	N	0.84262	.	.	.	.	.	.	T	0.11155	-1.0599	4	.	.	.	.	3.4143	0.07369	0.0893:0.285:0.1715:0.4541	.	.	.	.	Q	11	.	.	R	-	2	0	DUSP15	29900357	0.000000	0.05858	0.004000	0.12327	0.011000	0.07611	-3.728000	0.00382	-3.029000	0.00267	-1.327000	0.01280	CGG		PASS	0.567	DUSP15-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078555.3	NM_080611		14	26	14	26	---	---	---	---
EPB41L1	2036	broad.mit.edu	37	20	34761748	34761748	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr20:34761748G>A	ENST00000338074.2	+	2	210	c.49G>A	c.(49-51)Gag>Aag	p.E17K	EPB41L1_ENST00000441639.1_Intron|EPB41L1_ENST00000373950.2_Intron|EPB41L1_ENST00000373941.1_Missense_Mutation_p.E17K|EPB41L1_ENST00000202028.5_Intron|EPB41L1_ENST00000373946.3_Intron	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	17					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.E17K(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AGCTCAGGAGGAGGCCCCGCA	0.622																																						uc002xfb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(49-51)GAG>AAG		erythrocyte membrane protein band 4.1-like 1							29.0	34.0	32.0					20																	34761748		2202	4300	6502	SO:0001583	missense	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34761748G>A	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.49G>A	20.37:g.34761748G>A	ENSP00000337168:p.Glu17Lys					EPB41L1_uc002xeu.2_Intron|EPB41L1_uc010zvo.1_Missense_Mutation_p.E17K|EPB41L1_uc002xev.2_Missense_Mutation_p.E17K|EPB41L1_uc002xew.2_Intron|EPB41L1_uc002xex.2_Intron|EPB41L1_uc002xey.2_Missense_Mutation_p.E17K|EPB41L1_uc002xez.2_Intron	p.E17K	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN			2	220	+	Breast(12;0.0239)		17					O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	c.49G>A	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.444810	0.43429	.	.	ENSG00000088367	ENST00000406771;ENST00000397315;ENST00000452261;ENST00000447825;ENST00000427533;ENST00000338074;ENST00000373941	T;T;D;D	0.83755	-1.41;-1.41;-1.76;-1.76	5.76	5.76	0.90799	.	.	.	.	.	T	0.77445	0.4131	N	0.19112	0.55	0.80722	D	1	B;D;P	0.55172	0.083;0.97;0.455	B;P;B	0.48704	0.027;0.587;0.081	T	0.73652	-0.3915	9	0.17832	T	0.49	.	17.045	0.86500	0.0:0.0:1.0:0.0	.	17;17;17	B7Z653;Q9H4G0;Q4VXN5	.;E41L1_HUMAN;.	K	17	ENSP00000385244:E17K;ENSP00000413262:E17K;ENSP00000337168:E17K;ENSP00000363052:E17K	ENSP00000337168:E17K	E	+	1	0	EPB41L1	34225162	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.103000	0.57783	2.879000	0.98667	0.650000	0.86243	GAG		PASS	0.622	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		8	65	8	65	---	---	---	---
DOK5	55816	broad.mit.edu	37	20	53205259	53205259	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr20:53205259A>C	ENST00000262593.5	+	4	673	c.323A>C	c.(322-324)cAg>cCg	p.Q108P	DOK5_ENST00000395939.1_5'UTR	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	108	PH.				MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)	p.Q108P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			AAAGTACTCCAGATGGAGTGT	0.453																																						uc002xwy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(322-324)CAG>CCG		docking protein 5							144.0	142.0	142.0					20																	53205259		2203	4300	6503	SO:0001583	missense	55816						insulin receptor binding	g.chr20:53205259A>C	AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"""Pleckstrin homology (PH) domain containing"""	16173	protein-coding gene	gene with protein product		608334	"""chromosome 20 open reading frame 180"""	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.323A>C	20.37:g.53205259A>C	ENSP00000262593:p.Gln108Pro					DOK5_uc010gin.2_5'UTR|DOK5_uc002xwz.2_5'UTR	p.Q108P	NM_018431	NP_060901	Q9P104	DOK5_HUMAN	Colorectal(105;0.202)		4	543	+			108			PH.		Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Missense_Mutation	SNP	ENST00000262593.5	37	c.323A>C	CCDS13446.1	.	.	.	.	.	.	.	.	.	.	A	15.71	2.912544	0.52439	.	.	ENSG00000101134	ENST00000262593	T	0.73258	-0.73	5.92	5.92	0.95590	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.161354	0.56097	D	0.000024	T	0.58075	0.2097	L	0.29908	0.895	0.80722	D	1	P	0.36712	0.566	B	0.32211	0.142	T	0.58487	-0.7628	10	0.30854	T	0.27	-10.4157	15.5474	0.76118	1.0:0.0:0.0:0.0	.	108	Q9P104	DOK5_HUMAN	P	108	ENSP00000262593:Q108P	ENSP00000262593:Q108P	Q	+	2	0	DOK5	52638666	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.319000	0.51983	2.269000	0.75478	0.460000	0.39030	CAG		PASS	0.453	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079777.2			36	55	36	55	---	---	---	---
TMPRSS15	5651	broad.mit.edu	37	21	19713822	19713822	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr21:19713822G>A	ENST00000284885.3	-	13	1505	c.1472C>T	c.(1471-1473)gCg>gTg	p.A491V		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	491	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.A491V(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						GTCATCCAACGCAATATCACT	0.388																																						uc002ykw.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						c.(1471-1473)GCG>GTG		enterokinase precursor							155.0	143.0	147.0					21																	19713822		2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19713822G>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.1472C>T	21.37:g.19713822G>A	ENSP00000284885:p.Ala491Val						p.A491V	NM_002772	NP_002763	P98073	ENTK_HUMAN			13	1503	-			491			Extracellular (Potential).|MAM.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.1472C>T	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357856	0.61403	.	.	ENSG00000154646	ENST00000284885	T	0.03272	3.99	5.64	5.64	0.86602	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.85682	D	0.000000	T	0.33381	0.0861	H	0.97516	4.02	0.53688	D	0.99997	D	0.89917	1.0	D	0.97110	1.0	T	0.54510	-0.8283	9	.	.	.	.	18.6798	0.91543	0.0:0.0:1.0:0.0	.	491	P98073	ENTK_HUMAN	V	491	ENSP00000284885:A491V	.	A	-	2	0	TMPRSS15	18635693	1.000000	0.71417	0.958000	0.39756	0.030000	0.12068	4.203000	0.58453	2.659000	0.90383	0.484000	0.47621	GCG		PASS	0.388	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		4	99	4	99	---	---	---	---
SLC7A4	6545	broad.mit.edu	37	22	21384233	21384233	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr22:21384233G>T	ENST00000382932.2	-	3	1457	c.1390C>A	c.(1390-1392)Ccc>Acc	p.P464T	AC002472.11_ENST00000450652.1_RNA|SLC7A4_ENST00000403586.1_Missense_Mutation_p.P464T	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	464					basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)	p.P464T(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCCAGGTAGGGCCTCAGGGCT	0.617																																						uc002zud.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1390-1392)CCC>ACC		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						42.0	37.0	39.0					22																	21384233		2203	4300	6503	SO:0001583	missense	6545				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity	g.chr22:21384233G>T	AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"""Solute carriers"""	11062	protein-coding gene	gene with protein product		603752	"""solute carrier family 7 (cationic amino acid transporter, y+ system), member 4"", ""solute carrier family 7 (orphan transporter), member 4"""			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.1390C>A	22.37:g.21384233G>T	ENSP00000372390:p.Pro464Thr					SLC7A4_uc002zue.2_Missense_Mutation_p.P464T	p.P464T	NM_004173	NP_004164	O43246	CTR4_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		3	1458	-	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	464					Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Missense_Mutation	SNP	ENST00000382932.2	37	c.1390C>A	CCDS33608.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474369	0.43942	.	.	ENSG00000099960	ENST00000403586;ENST00000382932	D;D	0.86230	-2.09;-2.09	5.46	4.45	0.53987	.	0.163549	0.56097	N	0.000037	D	0.89332	0.6685	M	0.71036	2.16	0.53688	D	0.999972	P	0.46859	0.885	P	0.52343	0.696	D	0.86947	0.2083	10	0.19147	T	0.46	.	13.926	0.63964	0.0:0.0:0.8466:0.1534	.	464	O43246	CTR4_HUMAN	T	464	ENSP00000384278:P464T;ENSP00000372390:P464T	ENSP00000372390:P464T	P	-	1	0	SLC7A4	19714233	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	5.428000	0.66489	1.456000	0.47831	-0.226000	0.12346	CCC		PASS	0.617	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1	NM_004173		5	75	5	75	---	---	---	---
TOP3B	8940	broad.mit.edu	37	22	22324733	22324733	+	Missense_Mutation	SNP	C	C	T	rs578029038	byFrequency	TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr22:22324733C>T	ENST00000398793.2	-	6	864	c.430G>A	c.(430-432)Gag>Aag	p.E144K	TOP3B_ENST00000413067.2_Intron|TOP3B_ENST00000357179.5_Missense_Mutation_p.E144K	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	144	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)	p.E144K(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		ACGGTCTTCTCGCCACCATGG	0.612													C|||	3	0.000599042	0.0	0.0	5008	,	,		18275	0.0		0.0	False		,,,				2504	0.0031					uc002zvs.2																			2	Substitution - Missense(2)		lung(2)	kidney(1)	1						c.(430-432)GAG>AAG		topoisomerase (DNA) III beta							88.0	73.0	78.0					22																	22324733		2203	4300	6503	SO:0001583	missense	8940				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding	g.chr22:22324733C>T	AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.430G>A	22.37:g.22324733C>T	ENSP00000381773:p.Glu144Lys					TOP3B_uc010gtm.1_5'Flank|TOP3B_uc002zvr.2_5'Flank|TOP3B_uc010gtl.2_Missense_Mutation_p.E144K|TOP3B_uc002zvt.3_Missense_Mutation_p.E144K	p.E144K	NM_003935	NP_003926	O95985	TOP3B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	6	865	-	Colorectal(54;0.105)		144			Toprim.		A0M8Q3|Q9BUP5	Missense_Mutation	SNP	ENST00000398793.2	37	c.430G>A	CCDS13797.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.400869	0.25291	.	.	ENSG00000100038	ENST00000357179;ENST00000398793;ENST00000424393	T;T;T	0.20463	2.07;2.07;2.07	4.97	3.95	0.45737	DNA topoisomerase, type IA, core domain (1);Toprim domain (1);	0.000000	0.85682	D	0.000000	T	0.13030	0.0316	N	0.19112	0.55	0.80722	D	1	B	0.15930	0.015	B	0.16289	0.015	T	0.07046	-1.0793	10	0.11794	T	0.64	2.7566	13.6137	0.62094	0.0:0.9252:0.0:0.0748	.	144	O95985	TOP3B_HUMAN	K	144	ENSP00000349705:E144K;ENSP00000381773:E144K;ENSP00000390977:E144K	ENSP00000349705:E144K	E	-	1	0	TOP3B	20654733	1.000000	0.71417	0.860000	0.33809	0.171000	0.22731	7.440000	0.80464	1.330000	0.45394	0.561000	0.74099	GAG		PASS	0.612	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935		10	41	10	41	---	---	---	---
PIWIL3	440822	broad.mit.edu	37	22	25145673	25145673	+	Silent	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr22:25145673C>G	ENST00000332271.5	-	10	1619	c.1203G>C	c.(1201-1203)ctG>ctC	p.L401L	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Silent_p.L292L|PIWIL3_ENST00000527701.1_Silent_p.L292L	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	401	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)	p.L401L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCATGTGGCACAGCTGAGGAA	0.478																																						uc003abd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(1201-1203)CTG>CTC		piwi-like 3							145.0	115.0	125.0					22																	25145673		2203	4300	6503	SO:0001819	synonymous_variant	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25145673C>G	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1203G>C	22.37:g.25145673C>G						PIWIL3_uc011ajx.1_Silent_p.L292L|PIWIL3_uc011ajy.1_Silent_p.L292L|PIWIL3_uc010gut.1_Silent_p.L401L	p.L401L	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN			10	1620	-			401			PAZ.			Silent	SNP	ENST00000332271.5	37	c.1203G>C	CCDS33623.1																																																																																				PASS	0.478	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		22	40	22	40	---	---	---	---
ZNRF3	84133	broad.mit.edu	37	22	29445639	29445639	+	Silent	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr22:29445639C>T	ENST00000544604.2	+	8	1645	c.1470C>T	c.(1468-1470)ctC>ctT	p.L490L	ZNRF3_ENST00000406323.3_Silent_p.L390L|ZNRF3_ENST00000332811.4_Silent_p.L390L|ZNRF3_ENST00000402174.1_Silent_p.L390L	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	490					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L390L(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CACCTAGCCTCGCACCCCGGG	0.682																																						uc003aeg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1168-1170)CTC>CTT		zinc and ring finger 3							23.0	27.0	25.0					22																	29445639		2081	4180	6261	SO:0001819	synonymous_variant	84133					integral to membrane	zinc ion binding	g.chr22:29445639C>T	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.1470C>T	22.37:g.29445639C>T						ZNRF3_uc003aeh.1_Silent_p.L390L	p.L390L	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN			8	1335	+			490			Cytoplasmic (Potential).		B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Silent	SNP	ENST00000544604.2	37	c.1170C>T	CCDS56225.1																																																																																				PASS	0.682	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		7	25	7	25	---	---	---	---
ZNRF3	84133	broad.mit.edu	37	22	29446217	29446217	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr22:29446217C>T	ENST00000544604.2	+	8	2223	c.2048C>T	c.(2047-2049)tCa>tTa	p.S683L	ZNRF3_ENST00000406323.3_Missense_Mutation_p.S583L|ZNRF3_ENST00000332811.4_Missense_Mutation_p.S583L|ZNRF3_ENST00000402174.1_Missense_Mutation_p.S583L	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	683					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S583L(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						AGCTCTACCTCAGAAGTGGGG	0.662																																						uc003aeg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1747-1749)TCA>TTA		zinc and ring finger 3							40.0	43.0	42.0					22																	29446217		1944	4125	6069	SO:0001583	missense	84133					integral to membrane	zinc ion binding	g.chr22:29446217C>T	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.2048C>T	22.37:g.29446217C>T	ENSP00000443824:p.Ser683Leu					ZNRF3_uc003aeh.1_Missense_Mutation_p.S583L	p.S583L	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN			8	1913	+			683			Cytoplasmic (Potential).		B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	37	c.1748C>T	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439893	0.83885	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.37	5.37	0.77165	.	0.616139	0.17140	N	0.185520	D	0.82282	0.5003	L	0.59436	1.845	0.49582	D	0.999805	D	0.54601	0.967	P	0.52627	0.704	D	0.83870	0.0273	10	0.72032	D	0.01	-14.102	16.2788	0.82658	0.0:1.0:0.0:0.0	.	683	Q9ULT6	ZNRF3_HUMAN	L	683;583;390;583;583	ENSP00000443824:S683L;ENSP00000328614:S583L;ENSP00000384456:S583L;ENSP00000384553:S583L	ENSP00000328614:S583L	S	+	2	0	ZNRF3	27776217	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.869000	0.75521	2.505000	0.84491	0.655000	0.94253	TCA		PASS	0.662	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		21	116	21	116	---	---	---	---
KREMEN1	83999	broad.mit.edu	37	22	29490392	29490392	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr22:29490392G>A	ENST00000407188.1	+	2	238	c.238G>A	c.(238-240)Gag>Aag	p.E80K	KREMEN1_ENST00000400338.2_Missense_Mutation_p.E82K|KREMEN1_ENST00000400335.4_Missense_Mutation_p.E82K|KREMEN1_ENST00000327813.5_Missense_Mutation_p.E82K			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	80	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				cell communication (GO:0007154)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.E82K(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						GGGCCTGGGTGAGCACAACTA	0.483																																						uc011akm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)	5						c.(244-246)GAG>AAG		kringle-containing transmembrane protein 1							51.0	52.0	52.0					22																	29490392		1886	4089	5975	SO:0001583	missense	83999				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding	g.chr22:29490392G>A	AB059618	CCDS43000.1, CCDS13849.1, CCDS43000.2	22q12.1	2008-03-27	2002-11-13	2002-11-15	ENSG00000183762	ENSG00000183762			17550	protein-coding gene	gene with protein product		609898	"""kringle containing transmembrane protein"""	KREMEN		11267660	Standard	NM_001039570		Approved	KRM1	uc011akm.1	Q96MU8	OTTHUMG00000030987	ENST00000407188.1:c.238G>A	22.37:g.29490392G>A	ENSP00000385431:p.Glu80Lys					KREMEN1_uc003ael.2_Missense_Mutation_p.E82K|KREMEN1_uc011akn.1_5'UTR	p.E82K	NM_032045	NP_114434	Q96MU8	KREM1_HUMAN			2	257	+			80			Extracellular (Potential).|Kringle.		B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	Missense_Mutation	SNP	ENST00000407188.1	37	c.244G>A	CCDS43000.2	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372501	0.42003	.	.	ENSG00000183762	ENST00000400335;ENST00000400338;ENST00000327813;ENST00000407188	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	4.99	4.99	0.66335	.	0.280171	0.28946	N	0.013634	T	0.57784	0.2077	L	0.39245	1.2	0.44736	D	0.997735	P;B	0.38078	0.617;0.135	B;B	0.33960	0.173;0.059	T	0.63202	-0.6690	10	0.52906	T	0.07	.	16.153	0.81636	0.0:0.0:1.0:0.0	.	82;82	Q96MU8-2;Q96MU8-3	.;.	K	82;82;82;80	ENSP00000383189:E82K;ENSP00000383192:E82K;ENSP00000331242:E82K;ENSP00000385431:E80K	ENSP00000331242:E82K	E	+	1	0	KREMEN1	27820392	0.975000	0.34042	1.000000	0.80357	0.995000	0.86356	2.985000	0.49362	2.494000	0.84150	0.650000	0.86243	GAG		PASS	0.483	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320947.1			35	53	35	53	---	---	---	---
MORC2	22880	broad.mit.edu	37	22	31345808	31345808	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr22:31345808G>A	ENST00000397641.3	-	5	655	c.247C>T	c.(247-249)Cag>Tag	p.Q83*	MORC2_ENST00000215862.4_Nonsense_Mutation_p.Q21*			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	83						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.Q21*(1)		breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TTCCCAAACTGGATCACACTG	0.478																																						uc003aje.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(61-63)CAG>TAG		MORC family CW-type zinc finger 2							106.0	95.0	99.0					22																	31345808		2203	4300	6503	SO:0001587	stop_gained	22880						ATP binding|zinc ion binding	g.chr22:31345808G>A	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.247C>T	22.37:g.31345808G>A	ENSP00000380763:p.Gln83*						p.Q21*	NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN			6	1425	-			83					B2RNB1|Q9UF28|Q9Y6V2	Nonsense_Mutation	SNP	ENST00000397641.3	37	c.61C>T		.	.	.	.	.	.	.	.	.	.	G	48	14.861769	0.99813	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	19.6526	0.95823	0.0:0.0:1.0:0.0	.	.	.	.	X	83;21	.	ENSP00000215862:Q21X	Q	-	1	0	MORC2	29675808	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.662000	0.90505	0.591000	0.81541	CAG		PASS	0.478	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		30	82	30	82	---	---	---	---
C1QTNF6	114904	broad.mit.edu	37	22	37578732	37578732	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr22:37578732C>A	ENST00000337843.2	-	3	408	c.333G>T	c.(331-333)atG>atT	p.M111I	RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000397110.2_Missense_Mutation_p.M111I|C1QTNF6_ENST00000470655.1_Intron|C1QTNF6_ENST00000255836.6_Intron	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	92	Collagen-like.				protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)		p.M111I(1)		breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						CCTCCCTGCCCATGTACCCTG	0.657																																						uc003aqw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(274-276)ATG>ATT		C1q and tumor necrosis factor related protein 6							12.0	13.0	13.0					22																	37578732		2138	4172	6310	SO:0001583	missense	114904					collagen		g.chr22:37578732C>A	AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.333G>T	22.37:g.37578732C>A	ENSP00000338812:p.Met111Ile					C1QTNF6_uc003aqx.1_Missense_Mutation_p.M111I|C1QTNF6_uc003aqy.1_Missense_Mutation_p.M111I|C1QTNF6_uc003aqz.1_Intron	p.M92I	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN			2	781	-			92			Collagen-like.		Q5H9G8|Q6ZRM7	Missense_Mutation	SNP	ENST00000337843.2	37	c.276G>T	CCDS13943.1	.	.	.	.	.	.	.	.	.	.	C	4.893	0.165954	0.09339	.	.	ENSG00000133466	ENST00000397110;ENST00000337843	T;T	0.21361	2.01;2.01	5.07	4.05	0.47172	.	0.745950	0.12783	N	0.439509	T	0.16471	0.0396	L	0.38692	1.165	0.80722	D	1	B;B	0.13145	0.005;0.007	B;B	0.14578	0.006;0.011	T	0.04140	-1.0974	10	0.22706	T;T	0.39;0.39	.	9.1026	0.36678	0.0:0.8309:0.0:0.1691	.	111;92	Q9BXI9-2;Q9BXI9	.;C1QT6_HUMAN	I	111	ENSP00000380299:M111I;ENSP00000338812:M111I	ENSP00000338812:M111I;ENSP00000338812:M111I	M	-	3	0	C1QTNF6	35908678	0.984000	0.35163	0.994000	0.49952	0.016000	0.09150	0.464000	0.21988	1.103000	0.41568	0.555000	0.69702	ATG		PASS	0.657	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318807.1	NM_182486		8	42	8	42	---	---	---	---
MICALL1	85377	broad.mit.edu	37	22	38323472	38323472	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr22:38323472C>T	ENST00000215957.6	+	9	1646	c.1520C>T	c.(1519-1521)cCa>cTa	p.P507L	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	507	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)	p.P507L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					ACACCATCGCCAGCGCTCAGC	0.672																																						uc003aui.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1519-1521)CCA>CTA		molecule interacting with Rab13							39.0	37.0	38.0					22																	38323472		2203	4300	6503	SO:0001583	missense	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38323472C>T	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.1520C>T	22.37:g.38323472C>T	ENSP00000215957:p.Pro507Leu						p.P507L	NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN			9	1604	+	Melanoma(58;0.045)		507			Pro-rich.		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	ENST00000215957.6	37	c.1520C>T	CCDS13961.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315409	0.60524	.	.	ENSG00000100139	ENST00000215957	T	0.57752	0.38	4.92	4.92	0.64577	.	0.236569	0.30302	N	0.009937	T	0.69878	0.3160	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.70920	-0.4741	10	0.48119	T	0.1	.	18.171	0.89745	0.0:1.0:0.0:0.0	.	507	Q8N3F8	MILK1_HUMAN	L	507	ENSP00000215957:P507L	ENSP00000215957:P507L	P	+	2	0	MICALL1	36653418	0.997000	0.39634	0.991000	0.47740	0.085000	0.17905	5.650000	0.67944	2.251000	0.74343	0.555000	0.69702	CCA		PASS	0.672	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		14	48	14	48	---	---	---	---
BRD1	23774	broad.mit.edu	37	22	50170800	50170800	+	Silent	SNP	C	C	A	rs376099852		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr22:50170800C>A	ENST00000216267.8	-	9	3096	c.2610G>T	c.(2608-2610)gcG>gcT	p.A870A	BRD1_ENST00000342989.5_Silent_p.A596A|BRD1_ENST00000457780.2_Missense_Mutation_p.R974L|BRD1_ENST00000404034.1_Silent_p.A870A|BRD1_ENST00000542442.1_Silent_p.A558A|BRD1_ENST00000404760.1_Silent_p.A1001A	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	870					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.A870A(1)|p.A596A(1)		endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CACATTTGGGCGCATTAAAGC	0.637																																						uc003biv.2																			2	Substitution - coding silent(2)		lung(2)	pancreas(1)	1						c.(2608-2610)GCG>GCT		bromodomain containing protein 1							60.0	62.0	61.0					22																	50170800		2203	4300	6503	SO:0001819	synonymous_variant	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50170800C>A	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.2610G>T	22.37:g.50170800C>A						BRD1_uc011arf.1_Silent_p.A596A|BRD1_uc011arg.1_Silent_p.A919A|BRD1_uc011arh.1_Silent_p.A870A|BRD1_uc003biu.3_Silent_p.A1001A	p.A870A	NM_014577	NP_055392	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	9	3097	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	870					A6ZJA4	Silent	SNP	ENST00000216267.8	37	c.2610G>T	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499811	0.44455	.	.	ENSG00000100425	ENST00000457780	T	0.15603	2.41	4.98	-9.97	0.00440	.	.	.	.	.	T	0.11537	0.0281	.	.	.	0.18873	N	0.999988	.	.	.	.	.	.	T	0.37009	-0.9724	6	0.66056	D	0.02	.	3.3541	0.07163	0.1582:0.2943:0.0863:0.4612	.	.	.	.	L	974	ENSP00000410042:R974L	ENSP00000410042:R974L	R	-	2	0	BRD1	48556804	0.000000	0.05858	0.001000	0.08648	0.104000	0.19210	-5.064000	0.00155	-1.813000	0.01226	-0.140000	0.14226	CGC		PASS	0.637	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		48	105	48	105	---	---	---	---
CRLF2	64109	broad.mit.edu	37	X	1325354	1325354	+	Silent	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chrX:1325354G>A	ENST00000381567.3	-	3	320	c.321C>T	c.(319-321)ttC>ttT	p.F107F	CRLF2_ENST00000467626.1_5'UTR|CRLF2_ENST00000381566.1_Silent_p.F107F	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	107					immunoglobulin secretion involved in immune response (GO:0002380)|inflammatory response (GO:0006954)|T-helper 2 cell cytokine production (GO:0035745)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F107F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GACTTGCGGTGAAAACGGGGT	0.493			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""																																	uc004cpm.1				Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	64109	Mis|T	cytokine receptor-like factor 2			L	P2RY8|IGH@		B-ALL|Downs associated ALL		1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(7)	7								Homo sapiens mRNA for IL-XR, complete cds.							223.0	215.0	218.0					X																	1325354		1964	4132	6096	SO:0001819	synonymous_variant	64109					extracellular region|integral to membrane|plasma membrane	receptor activity	g.chrX:1325354G>A	AF142570	CCDS75944.1, CCDS75945.1	Xp22.3 and Yp11.3	2011-10-07			ENSG00000205755	ENSG00000205755		"""Pseudoautosomal regions / PAR1"""	14281	protein-coding gene	gene with protein product		300357, 400023				11237741, 11474172	Standard	NM_022148		Approved	CRL2, TSLPR	uc004cpk.2	Q9HC73	OTTHUMG00000067432	ENST00000381567.3:c.321C>T	X.37:g.1325354G>A										Q9HC73	CRLF2_HUMAN			3		-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)						Q9H5R3	RNA	SNP	ENST00000381567.3	37	c.321C>T																																																																																					PASS	0.493	CRLF2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_022148		17	181	17	181	---	---	---	---
OFD1	8481	broad.mit.edu	37	X	13771542	13771542	+	Missense_Mutation	SNP	G	G	A	rs373202088		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chrX:13771542G>A	ENST00000340096.6	+	11	1438	c.1111G>A	c.(1111-1113)Gat>Aat	p.D371N	OFD1_ENST00000380550.3_Missense_Mutation_p.D331N|OFD1_ENST00000380567.1_Missense_Mutation_p.D231N|OFD1_ENST00000490265.1_3'UTR	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	371					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)	p.D371N(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						ACTGATTGAAGATGAAAGGAA	0.363																																						uc004cvp.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1111-1113)GAT>AAT		oral-facial-digital syndrome 1		G	ASN/ASP	0,3835		0,0,1632,571	104.0	98.0	100.0		1111	5.8	0.7	X		100	1,6727		0,1,2427,1872	no	missense	OFD1	NM_003611.2	23	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	possibly-damaging	371/1013	13771542	1,10562	2203	4300	6503	SO:0001583	missense	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13771542G>A	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.1111G>A	X.37:g.13771542G>A	ENSP00000344314:p.Asp371Asn					OFD1_uc004cvr.3_5'UTR|OFD1_uc011mil.1_5'UTR|OFD1_uc004cvq.3_Missense_Mutation_p.D231N|OFD1_uc010nen.2_Missense_Mutation_p.D370N|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Missense_Mutation_p.D330N|OFD1_uc004cvv.3_Missense_Mutation_p.D330N|OFD1_uc010neo.1_Missense_Mutation_p.D117N	p.D371N	NM_003611	NP_003602	O75665	OFD1_HUMAN			11	1470	+			371			Potential.		B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	ENST00000340096.6	37	c.1111G>A	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	.	18.95	3.730768	0.69074	0.0	1.49E-4	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567;ENST00000543598	D;D;D	0.96011	-2.26;-3.88;-1.79	5.79	5.79	0.91817	.	0.384286	0.33753	N	0.004599	D	0.93304	0.7866	L	0.50333	1.59	0.80722	D	1	B;B;B;B;B	0.30914	0.012;0.138;0.112;0.3;0.138	B;B;B;B;B	0.29785	0.012;0.049;0.032;0.107;0.049	D	0.91420	0.5158	10	0.19590	T	0.45	-5.823	18.5937	0.91223	0.0:0.0:1.0:0.0	.	194;371;331;231;371	F5H2Z4;A8K2T9;O75665-3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	N	331;371;231;194	ENSP00000369923:D331N;ENSP00000344314:D371N;ENSP00000369941:D231N	ENSP00000344314:D371N	D	+	1	0	OFD1	13681463	1.000000	0.71417	0.713000	0.30519	0.889000	0.51656	2.962000	0.49176	2.434000	0.82447	0.600000	0.82982	GAT		PASS	0.363	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		131	16	131	16	---	---	---	---
BMX	660	broad.mit.edu	37	X	15540664	15540664	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chrX:15540664C>G	ENST00000357607.2	+	7	894	c.706C>G	c.(706-708)Cca>Gca	p.P236A	BMX_ENST00000342014.6_Missense_Mutation_p.P236A|BMX_ENST00000348343.6_Missense_Mutation_p.P236A			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	236					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.P236A(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					GCAGTATATTCCAAGGGAAGA	0.483																																						uc004cww.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)	5						c.(706-708)CCA>GCA		BMX non-receptor tyrosine kinase							84.0	73.0	77.0					X																	15540664		2203	4300	6503	SO:0001583	missense	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15540664C>G	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.706C>G	X.37:g.15540664C>G	ENSP00000350224:p.Pro236Ala					BMX_uc004cwx.3_Missense_Mutation_p.P236A|BMX_uc004cwy.3_Missense_Mutation_p.P236A	p.P236A	NM_203281	NP_975010	P51813	BMX_HUMAN			7	894	+	Hepatocellular(33;0.183)		236					A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	c.706C>G	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	C	1.367	-0.587220	0.03827	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	T;T;T	0.74632	-0.86;-0.86;-0.86	5.2	3.44	0.39384	.	0.384649	0.25523	N	0.030096	T	0.51907	0.1702	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.06405	0.002	T	0.46162	-0.9211	10	0.56958	D	0.05	.	7.7386	0.28829	0.0:0.7968:0.0:0.2032	.	236	P51813	BMX_HUMAN	A	236	ENSP00000350224:P236A;ENSP00000308774:P236A;ENSP00000340082:P236A	ENSP00000340082:P236A	P	+	1	0	BMX	15450585	0.017000	0.18338	0.004000	0.12327	0.003000	0.03518	1.778000	0.38614	0.655000	0.30866	-0.191000	0.12829	CCA		PASS	0.483	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721		25	120	25	120	---	---	---	---
TMEM27	57393	broad.mit.edu	37	X	15646095	15646095	+	Silent	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chrX:15646095C>T	ENST00000380342.3	-	6	923	c.668G>A	c.(667-669)tGa>tAa	p.*223*		NM_020665.4	NP_065716.1	Q9HBJ8	TMM27_HUMAN	transmembrane protein 27	0					positive regulation of amino acid transport (GO:0051957)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of SNARE complex assembly (GO:0035543)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)	p.*223*(1)		endometrium(3)|lung(4)|ovary(1)	8	Hepatocellular(33;0.183)					AACAGCCCTTCAGAGAGGGGT	0.438																																						uc004cxc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(667-669)TGA>TAA		transmembrane protein 27 precursor							106.0	83.0	91.0					X																	15646095		2203	4300	6503	SO:0001819	synonymous_variant	57393				proteolysis	integral to membrane	metallopeptidase activity|peptidyl-dipeptidase activity	g.chrX:15646095C>T	AF229179	CCDS14170.1	Xp22	2012-04-13			ENSG00000147003	ENSG00000147003			29437	protein-coding gene	gene with protein product	"""collectrin"""	300631				11278314	Standard	NM_020665		Approved	NX17	uc004cxc.2	Q9HBJ8	OTTHUMG00000021181	ENST00000380342.3:c.668G>A	X.37:g.15646095C>T							p.*223*	NM_020665	NP_065716	Q9HBJ8	TMM27_HUMAN			6	924	-	Hepatocellular(33;0.183)		223					B2R9M1|Q6UW07	Silent	SNP	ENST00000380342.3	37	c.668G>A	CCDS14170.1																																																																																				PASS	0.438	TMEM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055879.1	NM_020665		11	53	11	53	---	---	---	---
LAS1L	81887	broad.mit.edu	37	X	64753613	64753613	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chrX:64753613G>A	ENST00000374811.3	-	2	279	c.239C>T	c.(238-240)tCa>tTa	p.S80L	LAS1L_ENST00000312391.8_Missense_Mutation_p.S80L|LAS1L_ENST00000374807.5_Missense_Mutation_p.S80L|LAS1L_ENST00000374804.5_Intron	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	80					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S80L(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						TTCGTTGCCTGACCTAAAGGG	0.517																																						uc004dwa.1																			2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	ovary(3)|large_intestine(1)	4						c.(238-240)TCA>TTA		LAS1-like							144.0	102.0	116.0					X																	64753613		2203	4300	6503	SO:0001583	missense	81887					MLL1 complex|nucleolus	protein binding	g.chrX:64753613G>A	BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.239C>T	X.37:g.64753613G>A	ENSP00000363944:p.Ser80Leu					LAS1L_uc004dwc.1_Missense_Mutation_p.S80L|LAS1L_uc004dwd.1_Intron	p.S80L	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN			2	311	-			80					A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	ENST00000374811.3	37	c.239C>T	CCDS14381.1	.	.	.	.	.	.	.	.	.	.	G	5.154	0.213931	0.09810	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000312391	.	.	.	5.35	2.97	0.34412	.	0.470122	0.23219	N	0.050583	T	0.11879	0.0289	N	0.04203	-0.255	0.26048	N	0.981521	B;B	0.02656	0.0;0.0	B;B	0.08055	0.0;0.003	T	0.17289	-1.0374	9	0.11182	T	0.66	.	1.103	0.01688	0.51:0.2044:0.1109:0.1747	.	80;80	Q9Y4W2-2;Q9Y4W2	.;LAS1L_HUMAN	L	80	.	ENSP00000308649:S80L	S	-	2	0	LAS1L	64670338	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.301000	0.33447	0.841000	0.35020	-0.340000	0.08031	TCA		PASS	0.517	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206		14	18	14	18	---	---	---	---
NAP1L2	4674	broad.mit.edu	37	X	72433467	72433467	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chrX:72433467C>G	ENST00000373517.3	-	1	1217	c.862G>C	c.(862-864)Gaa>Caa	p.E288Q	NAP1L2_ENST00000536638.1_Missense_Mutation_p.E146Q	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	288					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.E288Q(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					AAGTGAAATTCTAGTGTGAAA	0.383																																						uc004ebi.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(862-864)GAA>CAA		nucleosome assembly protein 1-like 2							49.0	48.0	48.0					X																	72433467		2202	4299	6501	SO:0001583	missense	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433467C>G	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.862G>C	X.37:g.72433467C>G	ENSP00000362616:p.Glu288Gln					NAP1L2_uc011mqj.1_Missense_Mutation_p.E146Q	p.E288Q	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN			1	1218	-	Renal(35;0.156)		288					B2RE61|B4E161|Q8TAN6	Missense_Mutation	SNP	ENST00000373517.3	37	c.862G>C	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	c	16.49	3.138735	0.56936	.	.	ENSG00000186462	ENST00000373517;ENST00000536638	T;T	0.27402	1.67;1.67	2.81	2.81	0.32909	.	0.054992	0.64402	U	0.000001	T	0.55162	0.1903	M	0.85710	2.77	0.41740	D	0.989607	D	0.76494	0.999	D	0.83275	0.996	T	0.59878	-0.7371	10	0.44086	T	0.13	-3.1694	10.7952	0.46455	0.0:1.0:0.0:0.0	.	288	Q9ULW6	NP1L2_HUMAN	Q	288;146	ENSP00000362616:E288Q;ENSP00000441555:E146Q	ENSP00000362616:E288Q	E	-	1	0	NAP1L2	72350192	1.000000	0.71417	0.923000	0.36655	0.886000	0.51366	5.987000	0.70571	1.665000	0.50811	0.415000	0.27848	GAA		PASS	0.383	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		4	72	4	72	---	---	---	---
NAP1L2	4674	broad.mit.edu	37	X	72434097	72434097	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chrX:72434097C>T	ENST00000373517.3	-	1	587	c.232G>A	c.(232-234)Gat>Aat	p.D78N	NAP1L2_ENST00000536638.1_Intron	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	78					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.D78N(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TCATCAGTATCGCCACCTTTT	0.498																																						uc004ebi.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(232-234)GAT>AAT		nucleosome assembly protein 1-like 2							150.0	120.0	131.0					X																	72434097		2203	4300	6503	SO:0001583	missense	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72434097C>T	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.232G>A	X.37:g.72434097C>T	ENSP00000362616:p.Asp78Asn					NAP1L2_uc011mqj.1_Intron	p.D78N	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN			1	588	-	Renal(35;0.156)		78					B2RE61|B4E161|Q8TAN6	Missense_Mutation	SNP	ENST00000373517.3	37	c.232G>A	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	c	11.70	1.716759	0.30413	.	.	ENSG00000186462	ENST00000373517	D	0.91237	-2.81	3.36	2.49	0.30216	.	0.382752	0.28983	U	0.013501	T	0.72787	0.3504	N	0.14661	0.345	0.09310	N	0.999993	P	0.39782	0.688	B	0.24701	0.055	T	0.64748	-0.6334	10	0.14252	T	0.57	-19.3756	5.6321	0.17516	0.0:0.8461:0.0:0.1539	.	78	Q9ULW6	NP1L2_HUMAN	N	78	ENSP00000362616:D78N	ENSP00000362616:D78N	D	-	1	0	NAP1L2	72350822	0.022000	0.18835	0.001000	0.08648	0.003000	0.03518	0.888000	0.28268	0.784000	0.33661	0.600000	0.82982	GAT		PASS	0.498	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		5	72	5	72	---	---	---	---
RGAG1	57529	broad.mit.edu	37	X	109694327	109694327	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chrX:109694327C>T	ENST00000465301.2	+	3	728	c.482C>T	c.(481-483)tCt>tTt	p.S161F	RGAG1_ENST00000540313.1_Missense_Mutation_p.S161F	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	161								p.S161F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GCACCAGATTCTGCAGAGATA	0.483																																						uc004eor.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(481-483)TCT>TTT		retrotransposon gag domain containing 1							109.0	91.0	97.0					X																	109694327		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109694327C>T	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.482C>T	X.37:g.109694327C>T	ENSP00000419786:p.Ser161Phe					RGAG1_uc011msr.1_Missense_Mutation_p.S161F	p.S161F	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			3	728	+			161					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.482C>T	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.787042	0.31593	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.57107	0.42;0.42	4.02	3.13	0.36017	.	0.000000	0.35838	N	0.002958	T	0.41903	0.1179	L	0.32530	0.975	0.34904	D	0.746813	P	0.49358	0.923	P	0.46110	0.504	T	0.51204	-0.8735	9	.	.	.	-2.2746	7.8718	0.29571	0.2459:0.7541:0.0:0.0	.	161	Q8NET4	RGAG1_HUMAN	F	161	ENSP00000419786:S161F;ENSP00000441452:S161F	.	S	+	2	0	RGAG1	109580983	1.000000	0.71417	0.989000	0.46669	0.116000	0.19942	2.460000	0.45031	1.004000	0.39156	0.600000	0.82982	TCT		PASS	0.483	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		30	71	30	71	---	---	---	---
PGRMC1	10857	broad.mit.edu	37	X	118370591	118370591	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chrX:118370591A>G	ENST00000217971.7	+	1	376	c.265A>G	c.(265-267)Ata>Gta	p.I89V	PGRMC1_ENST00000535419.1_Missense_Mutation_p.I89V	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	89	Cytochrome b5 heme-binding.				axon guidance (GO:0007411)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	heme binding (GO:0020037)|steroid binding (GO:0005496)	p.I89V(1)		lung(6)	6					Dextromethorphan(DB00514)|Nortriptyline(DB00540)	GGACCCGCGCATACTCATGGC	0.677																																						uc004erb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(265-267)ATA>GTA		progesterone receptor membrane component 1							9.0	10.0	10.0					X																	118370591		2175	4256	6431	SO:0001583	missense	10857					cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus	heme binding|protein binding|receptor activity|steroid binding	g.chrX:118370591A>G		CCDS14576.1, CCDS65313.1	Xq22-q24	2005-11-29			ENSG00000101856	ENSG00000101856			16090	protein-coding gene	gene with protein product		300435				9705155	Standard	NM_006667		Approved	HPR6.6	uc004erb.3	O00264	OTTHUMG00000022268	ENST00000217971.7:c.265A>G	X.37:g.118370591A>G	ENSP00000217971:p.Ile89Val					PGRMC1_uc011mts.1_Missense_Mutation_p.I89V	p.I89V	NM_006667	NP_006658	O00264	PGRC1_HUMAN			1	381	+			89			Cytochrome b5 heme-binding.|Cytoplasmic (Potential).		B7Z1L3|Q9UGJ9	Missense_Mutation	SNP	ENST00000217971.7	37	c.265A>G	CCDS14576.1	.	.	.	.	.	.	.	.	.	.	.	19.05	3.752926	0.69648	.	.	ENSG00000101856	ENST00000217971;ENST00000535419	T;T	0.77098	-1.07;-1.07	5.04	3.79	0.43588	Cytochrome b5 (3);	0.000000	0.85682	D	0.000000	T	0.76011	0.3928	L	0.39147	1.195	0.53688	D	0.999978	P;P	0.44659	0.747;0.84	P;P	0.53593	0.73;0.669	T	0.71576	-0.4551	10	0.25106	T	0.35	-1.6727	9.6389	0.39826	0.8271:0.1729:0.0:0.0	.	89;89	B7Z1L3;O00264	.;PGRC1_HUMAN	V	89	ENSP00000217971:I89V;ENSP00000442821:I89V	ENSP00000217971:I89V	I	+	1	0	PGRMC1	118254619	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	6.531000	0.73820	1.660000	0.50760	0.425000	0.28330	ATA		PASS	0.677	PGRMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058024.1	NM_006667		11	5	11	5	---	---	---	---
CT47A6	728062	broad.mit.edu	37	X	120094533	120094533	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chrX:120094533C>T	ENST00000443600.2	-	1	804	c.550G>A	c.(550-552)Gag>Aag	p.E184K	CT47A5_ENST00000419194.2_Intron	NM_001080141.1	NP_001073610.1	Q5JQC4	CT47A_HUMAN	cancer/testis antigen family 47, member A6	184								p.E184K(1)		large_intestine(1)|lung(4)	5						CCCAGGCCCTCGCCCGCCCGG	0.746																																						uc004eth.2																			1	Substitution - Missense(1)		lung(1)		0						c.(550-552)GAG>AAG		cancer/testis antigen family 47, member A6							1.0	2.0	2.0					X																	120094533		57	470	527	SO:0001583	missense	728062							g.chrX:120094533C>T		CCDS35386.1	Xq24	2013-10-15			ENSG00000226023	ENSG00000226023			33287	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 6"""	300785				16382448	Standard	NM_001080141		Approved	CT47.6	uc004eth.3	Q5JQC4	OTTHUMG00000022316	ENST00000443600.2:c.550G>A	X.37:g.120094533C>T	ENSP00000415974:p.Glu184Lys					CT47A1_uc004eti.2_Intron	p.E184K	NM_001080141	NP_001073610	Q5JQC4	CT47A_HUMAN			1	805	-			184					Q8N747	Missense_Mutation	SNP	ENST00000443600.2	37	c.550G>A	CCDS35386.1	.	.	.	.	.	.	.	.	.	.	-	6.499	0.460213	0.12342	.	.	ENSG00000226023	ENST00000443600	.	.	.	0.567	-1.13	0.09775	.	.	.	.	.	T	0.24084	0.0583	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21965	-1.0230	4	0.39692	T	0.17	.	.	.	.	.	.	.	.	K	184	.	ENSP00000415974:E184K	E	-	1	0	CT47A6	119922214	0.000000	0.05858	0.017000	0.16124	0.036000	0.12997	-1.421000	0.02455	-1.543000	0.01723	-1.340000	0.01251	GAG		PASS	0.746	CT47A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058129.1	NM_001080141		23	97	23	97	---	---	---	---
ARHGAP36	158763	broad.mit.edu	37	X	130215674	130215674	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chrX:130215674G>A	ENST00000276211.5	+	2	380	c.35G>A	c.(34-36)aGg>aAg	p.R12K	ARHGAP36_ENST00000370921.1_5'Flank|ARHGAP36_ENST00000370922.1_Intron	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	12					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.R12K(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						AAGGCAGCAAGGGCACTGTGC	0.522																																						uc004evz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(34-36)AGG>AAG		hypothetical protein LOC158763 precursor							149.0	103.0	118.0					X																	130215674		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:130215674G>A		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.35G>A	X.37:g.130215674G>A	ENSP00000276211:p.Arg12Lys					ARHGAP36_uc004ewa.2_Intron|ARHGAP36_uc004ewb.2_Intron|ARHGAP36_uc004ewc.2_5'Flank	p.R12K	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN			2	380	+			12					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.35G>A	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349936	0.61183	.	.	ENSG00000147256	ENST00000276211	T	0.10960	2.82	4.16	4.16	0.48862	.	0.479919	0.17944	N	0.156722	T	0.06050	0.0157	N	0.08118	0	0.80722	D	1	B	0.29766	0.256	B	0.26416	0.069	T	0.33266	-0.9875	10	0.87932	D	0	.	10.8111	0.46547	0.0:0.0:1.0:0.0	.	12	Q6ZRI8	RHG36_HUMAN	K	12	ENSP00000276211:R12K	ENSP00000276211:R12K	R	+	2	0	ARHGAP36	130043355	1.000000	0.71417	0.991000	0.47740	0.977000	0.68977	2.848000	0.48278	2.315000	0.78130	0.544000	0.68410	AGG		PASS	0.522	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		66	16	66	16	---	---	---	---
SLITRK2	84631	broad.mit.edu	37	X	144906425	144906426	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chrX:144906425_144906426TC>AT	ENST00000370490.1	+	1	6737_6738	c.2482_2483TC>AT	c.(2482-2484)TCa>ATa	p.S828I	TMEM257_ENST00000408967.2_5'Flank|SLITRK2_ENST00000428560.2_Missense_Mutation_p.S828I|SLITRK2_ENST00000413937.2_Missense_Mutation_p.S828I|SLITRK2_ENST00000434188.2_Missense_Mutation_p.S828I|SLITRK2_ENST00000447897.2_Missense_Mutation_p.S828I			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	828					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.S828T(1)|p.S828L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TAAGCCGCAATCAGAACCGGAC	0.46																																						uc004fcd.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(2482-2484)TCA>ACA|c.(2482-2484)TCA>TTA		SLIT and NTRK-like family, member 2 precursor																																				SO:0001583	missense	84631					integral to membrane		g.chrX:144906425T>A|g.chrX:144906426C>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	Exception_encountered	X.37:g.144906425_144906426delinsAT	ENSP00000359521:p.Ser828Ile					SLITRK2_uc010nsp.2_Missense_Mutation_p.S828T|SLITRK2_uc010nso.2_Missense_Mutation_p.S828T|SLITRK2_uc011mwq.1_Missense_Mutation_p.S828T|SLITRK2_uc011mwr.1_Missense_Mutation_p.S828T|SLITRK2_uc011mws.1_Missense_Mutation_p.S828T|SLITRK2_uc004fcg.2_Missense_Mutation_p.S828T|SLITRK2_uc011mwt.1_Missense_Mutation_p.S828T|CXorf1_uc004fch.2_5'Flank|SLITRK2_uc010nsp.2_Missense_Mutation_p.S828L|SLITRK2_uc010nso.2_Missense_Mutation_p.S828L|SLITRK2_uc011mwq.1_Missense_Mutation_p.S828L|SLITRK2_uc011mwr.1_Missense_Mutation_p.S828L|SLITRK2_uc011mws.1_Missense_Mutation_p.S828L|SLITRK2_uc004fcg.2_Missense_Mutation_p.S828L|SLITRK2_uc011mwt.1_Missense_Mutation_p.S828L|CXorf1_uc004fch.2_5'Flank	p.S828T|p.S828L	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	3472|3473	+	Acute lymphoblastic leukemia(192;6.56e-05)		828			Cytoplasmic (Potential).		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.2482T>A|c.2483C>T	CCDS14680.1																																																																																				PASS	0.460	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		16	70	16	70	---	---	---	---
KIAA1715	80856	broad.mit.edu	37	2	176794784	176794784	+	Frame_Shift_Del	DEL	C	C	-			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr2:176794784delC	ENST00000272748.4	-	13	1445	c.1198delG	c.(1198-1200)gccfs	p.A400fs	KIAA1715_ENST00000544803.1_Frame_Shift_Del_p.A431fs|KIAA1715_ENST00000535310.1_3'UTR	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	400					blood coagulation (GO:0007596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|limb development (GO:0060173)|regulation of chondrocyte differentiation (GO:0032330)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			ATCACTGAGGCTTCCTCATTC	0.433																																						uc002ukc.1																			0				ovary(2)|skin(1)	3						c.(1198-1200)GCCfs		Lunapark							212.0	195.0	201.0					2																	176794784		2203	4300	6503	SO:0001589	frameshift_variant	80856					integral to membrane	protein binding	g.chr2:176794784delC	AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320			21610	protein-coding gene	gene with protein product	"""lunapark"", ""limb and neural patterns"""	610236				11214970, 22729086	Standard	NM_030650		Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.1198delG	2.37:g.176794784delC	ENSP00000272748:p.Ala400fs					KIAA1715_uc010zer.1_Frame_Shift_Del_p.A431fs|KIAA1715_uc010fqw.1_Frame_Shift_Del_p.A466fs|KIAA1715_uc010zes.1_Frame_Shift_Del_p.A402fs|KIAA1715_uc002ukd.1_Frame_Shift_Del_p.A277fs|KIAA1715_uc010zet.1_RNA	p.A400fs	NM_030650	NP_085153	Q9C0E8	LNP_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0793)		13	1391	-			400			Cytoplasmic (Potential).		B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Frame_Shift_Del	DEL	ENST00000272748.4	37	c.1198delG	CCDS33332.1																																																																																					0.433	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	XM_042834		116	68	116	68	---	---	---	---
NPAT	4863	broad.mit.edu	37	11	108043724	108043724	+	Frame_Shift_Del	DEL	A	A	-			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr11:108043724delA	ENST00000278612.8	-	13	2092	c.1987delT	c.(1987-1989)tcafs	p.S665fs	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	665					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		ACAGAAGATGAAGGCTCCTGT	0.398																																						uc001pjz.3																			0				ovary(2)	2						c.(1987-1989)TCAfs		nuclear protein,  ataxia-telangiectasia locus							43.0	41.0	41.0					11																	108043724		1822	4077	5899	SO:0001589	frameshift_variant	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108043724delA	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.1987delT	11.37:g.108043724delA	ENSP00000278612:p.Ser665fs					NPAT_uc010rvv.1_5'Flank|NPAT_uc001pka.2_Frame_Shift_Del_p.S458fs	p.S663fs	NM_002519	NP_002510	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	13	2089	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	663					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Frame_Shift_Del	DEL	ENST00000278612.8	37	c.1987delT	CCDS41710.1																																																																																					0.398	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		68	44	68	44	---	---	---	---
GRK1	6011	broad.mit.edu	37	13	114321992	114321992	+	Frame_Shift_Del	DEL	G	G	-	rs535980094		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr13:114321992delG	ENST00000335678.6	+	1	523	c.291delG	c.(289-291)acgfs	p.T97fs		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	97	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			ACTATGACACGGCAGACAATG	0.582																																						uc010tkf.1																			0				ovary(2)	2						c.(289-291)ACGfs		rhodopsin kinase precursor							50.0	55.0	53.0					13																	114321992		2043	4186	6229	SO:0001589	frameshift_variant	6011				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity	g.chr13:114321992delG			13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"""rhodopsin kinase"""	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.291delG	13.37:g.114321992delG	ENSP00000334876:p.Thr97fs						p.T97fs	NM_002929	NP_002920	Q15835	RK_HUMAN	all cancers(43;0.234)		1	399	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	97			RGS.|N-terminal.		Q53X14	Frame_Shift_Del	DEL	ENST00000335678.6	37	c.291delG																																																																																						0.582	GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470655.1	NM_002929		7	23	7	23	---	---	---	---
ELL3	80237	broad.mit.edu	37	15	44066423	44066427	+	Frame_Shift_Del	DEL	CCCAG	CCCAG	-	rs139597518		TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr15:44066423_44066427delCCCAG	ENST00000319359.3	-	9	1632_1636	c.991_995delCTGGG	c.(991-996)ctgggafs	p.LG331fs	RP11-296A16.1_ENST00000417761.2_3'UTR|SERF2_ENST00000381359.1_5'Flank|ELL3_ENST00000497465.1_5'UTR	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	331					DNA-templated transcription, elongation (GO:0006354)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial to mesenchymal transition (GO:0010717)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	enhancer binding (GO:0035326)			cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		AATCTCTGCTCCCAGCTCTATGAAC	0.507																																						uc001zsw.1																			0				ovary(1)	1						c.(991-996)CTGGGAfs		elongation factor RNA polymerase II-like 3																																				SO:0001589	frameshift_variant	80237				positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex		g.chr15:44066423_44066427delCCCAG	AF276512	CCDS10102.1	15q15.1	2008-02-05			ENSG00000128886	ENSG00000128886			23113	protein-coding gene	gene with protein product		609885				10882741	Standard	NM_025165		Approved	FLJ22637	uc001zsw.1	Q9HB65	OTTHUMG00000059936	ENST00000319359.3:c.991_995delCTGGG	15.37:g.44066423_44066427delCCCAG	ENSP00000320346:p.Leu331fs					ELL3_uc001zsv.1_Frame_Shift_Del_p.L285fs|ELL3_uc001zsx.1_Frame_Shift_Del_p.L216fs|uc001zsy.2_5'Flank	p.L331fs	NM_025165	NP_079441	Q9HB65	ELL3_HUMAN		GBM - Glioblastoma multiforme(94;7.81e-07)	9	1394_1398	-		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	331_332					B3KQ66|B3KX08|Q6I9Z7|Q9H634	Frame_Shift_Del	DEL	ENST00000319359.3	37	c.991_995delCTGGG	CCDS10102.1																																																																																					0.507	ELL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133236.2	NM_025165		89	45	89	45	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10432354	10432354	+	Frame_Shift_Del	DEL	C	C	-			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chr17:10432354delC	ENST00000245503.5	-	27	3781	c.3397delG	c.(3397-3399)gccfs	p.A1133fs	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Frame_Shift_Del_p.A1133fs	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1133					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)			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						GCCCGGGAGGCCCGCTCTGCC	0.602																																						uc010coi.2																			0				ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(3397-3399)GCCfs		myosin heavy chain IIa							35.0	41.0	39.0					17																	10432354		2200	4292	6492	SO:0001589	frameshift_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10432354delC		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.3397delG	17.37:g.10432354delC	ENSP00000245503:p.Ala1133fs					uc002gml.1_Intron|MYH2_uc002gmp.3_Frame_Shift_Del_p.A1133fs|MYH2_uc010coj.2_Intron	p.A1133fs	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			27	3525	-			1133			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Frame_Shift_Del	DEL	ENST00000245503.5	37	c.3397delG	CCDS11156.1																																																																																					0.602	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		29	41	29	41	---	---	---	---
MT-CO3	4514	broad.mit.edu	37	M	9478	9478	+	Frame_Shift_Del	DEL	T	T	-			TCGA-22-5491-01A-01D-1632-08	TCGA-22-5491-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed4b5a8c-1dae-41a3-8a2a-f54fa51be4b8	e987bceb-d835-432f-968a-9369f1d58541	g.chrM:9478delT	ENST00000362079.2	+	1	272	c.272delT	c.(271-273)gttfs	p.V91fs	MT-TH_ENST00000387441.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-ND5_ENST00000361567.2_5'Flank|MT-TK_ENST00000387421.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TR_ENST00000387439.1_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-ND3_ENST00000361227.2_5'Flank			P00414	COX3_HUMAN	mitochondrially encoded cytochrome c oxidase III	91			V -> I (in dbSNP:rs2853825). {ECO:0000269|PubMed:1757091}.		aerobic electron transport chain (GO:0019646)|cellular metabolic process (GO:0044237)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						TACCTCAGAAGTTTTTTTCTT	0.522																																						uc011mfi.1																			0													Homo sapiens mRNA for OK/SW-CL.16, complete cds.																																				SO:0001589	frameshift_variant	0							g.chrM:9478delT			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198938	ENSG00000198938		"""Mitochondrial respiratory chain complex / Complex IV"""	7422	protein-coding gene	gene with protein product		516050	"""cytochrome c oxidase III"""	MTCO3			Standard			Approved	COX3, COIII, CO3		P00414		ENST00000362079.2:c.272delT	M.37:g.9478delT	ENSP00000354982:p.Val91fs					uc004cov.3_5'Flank|uc004cow.1_5'Flank|uc004cox.3_5'Flank								1		+								Q14Y83	RNA	DEL	ENST00000362079.2	37	c.816delT																																																																																						0.522	MT-CO3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024032		34	75	34	75	---	---	---	---
